GPCRの疾患関連遺伝子変異

Disease-associated GPCR variants word cloud

当社カタログに掲載しているGPCRを中心に、疾患関連が示唆されている遺伝子変異をNCBI ClinVarデータベースから抽出しました。Clinical significanceのパラメータを 'pathological', "likely pathological", "drug response"に設定した結果です。

2022年6月13日追記：IUPHAR/BPS Guide to Pharmacologyに掲載されている全415受容体に対象を広げ再検索しました。

Symbol	Variation name	Variant type	Condition	Synonyms
HTR2C	NM_000868.4(HTR2C):c.1219_1222del (p.Ser407fs)	deletion	Inborn genetic diseases	5-HT_1C\|5-HT2C\|HTR1C\|5-HTR2C\|5-hydroxytryptamine receptor 1C\|serotonin 1c receptor\|serotonin receptor 2C\|5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
CHRM3	NM_001375978.1(CHRM3):c.1173_1184delinsT (p.Pro392fs)	indel	Prune belly	HM4\|Chrm-3\|M3R\|cholinergic receptor, muscarinic 3\|cholinergic receptor\|cholinergic receptor, muscarinic 3, cardiac
CHRM3	NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg)	single nucleotide variant	Prune belly	HM4\|Chrm-3\|M3R\|cholinergic receptor, muscarinic 3\|cholinergic receptor\|cholinergic receptor, muscarinic 3, cardiac
ADRA2C	NM_000683.4(ADRA2C):c.971_982del (p.Gly324_Ala327del)	deletion	Congestive heart failure and beta-blocker response, modifier of	α₂-C4\|ADRA2L2\|ADRA2RL2\|Adrenergic alpha2C- receptor class I\|alpha-2 adrenergic receptor subtype C4\|alpha-2C adrenergic receptor\|alpha-2C adrenoreceptor\|Adra-2c\|adrenergic receptor
ADRB1	NM_000684.3(ADRB1):c.1165G>C (p.Gly389Arg)	single nucleotide variant	Congestive heart failure and beta-blocker response, modifier of	ADRB1R\|Adrenergic receptor beta 1\|B1AR\|beta-1 adrenergic receptor\|beta-1 adrenoreceptor\|Adrb-1\|beta 1-AR\|adrenergic receptor
ADRB2	NM_000024.6(ADRB2):c.46G>A (p.Gly16Arg)	single nucleotide variant	salmeterol response - Efficacy	ADRB2R\|ADRBR\|B2AR\|beta-2 adrenergic receptor\|beta-2 adrenoreceptor\|Adrb-2\|beta 2-AR\|Gpcr7\|adrenoceptor beta 2, surface\|adrenergic receptor
ADRB2	NM_000024.6(ADRB2):c.491C>T (p.Thr164Ile)	single nucleotide variant	Beta-2-adrenoreceptor agonist, reduced response to	ADRB2R\|ADRBR\|B2AR\|beta-2 adrenergic receptor\|beta-2 adrenoreceptor\|Adrb-2\|beta 2-AR\|Gpcr7\|adrenoceptor beta 2, surface\|adrenergic receptor
C3AR1	NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs)	duplication	AHUS, SUSCEPTIBILITY TO, 1	C3AR\|C3a anaphylatoxin chemotactic receptor\|C3a-R\|anaphylatoxin C3a receptor\|complement component 3a receptor 1
AGTR1	NM_000685.5(AGTR1):c.376C>T (p.Arg126Ter)	single nucleotide variant	Renal tubular dysgenesis	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
AGTR1	NM_000685.5(AGTR1):c.845C>T (p.Thr282Met)	single nucleotide variant	Renal tubular dysgenesis	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
AGTR1	NM_000685.5(AGTR1):c.419G>A (p.Arg140His)	single nucleotide variant	Essential hypertension, genetic	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
AGTR1	NM_000685.5(AGTR1):c.233del (p.Leu78fs)	deletion	Essential hypertension, genetic	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
AGTR1	NM_000685.5(AGTR1):c.879del (p.Phe293fs)	deletion	Renal tubular dysgenesis	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
AGTR1	NM_000685.5(AGTR1):c.110dup (p.Ile38fs)	duplication	Renal tubular dysgenesis	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
CASR	NM_000388.4(CASR):c.393C>G (p.Cys131Trp)	single nucleotide variant	Hypocalcemia, autosomal dominant 1, with bartter syndrome	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)	single nucleotide variant	Hypocalcemia, autosomal dominant 1, with bartter syndrome	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.186-1G>T	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)	single nucleotide variant	Inborn genetic diseases	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1846C>G (p.Leu616Val)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.141A>C (p.Lys47Asn)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.108del (p.Leu37fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.553C>T (p.Arg185Ter)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2656C>T (p.Arg886Trp)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.346G>A (p.Ala116Thr)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2010_2011del (p.Glu671fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1589G>A (p.Trp530Ter)	single nucleotide variant	Hypocalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1378-1G>C	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.186-2A>G	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1759dup (p.Asp587fs)	duplication	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1557_1560del (p.Glu519fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2459C>T (p.Ser820Phe)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs)	indel	Neonatal severe primary hyperparathyroidism	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.680G>T (p.Arg227Leu)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	CASR, ALU INS, CODON 877	insertion	Neonatal severe primary hyperparathyroidism	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.380A>C (p.Glu127Ala)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.889G>A (p.Glu297Lys)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.680G>A (p.Arg227Gln)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.413C>T (p.Thr138Met)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.428G>A (p.Gly143Glu)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.185G>T (p.Arg62Met)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1657G>A (p.Gly553Arg)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1745G>T (p.Cys582Phe)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.539T>G (p.Phe180Cys)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2180T>A (p.Leu727Gln)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.38T>C (p.Leu13Pro)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2030del (p.Cys677fs)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.280G>T (p.Gly94Ter)	single nucleotide variant	Neonatal severe primary hyperparathyroidism	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.528del (p.Asn176fs)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1852del (p.Leu618fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2533_2545del (p.Ser845fs)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2429G>A (p.Ser810Asn)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2531C>T (p.Ala844Val)	single nucleotide variant	Inborn genetic diseases	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1661T>C (p.Ile554Thr)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2516T>C (p.Ile839Thr)	single nucleotide variant	Neurodevelopmental disorder	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1525G>C (p.Gly509Arg)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2254del (p.Arg752fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2297_2298dup (p.Glu767fs)	duplication	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2415del (p.Lys805fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NC_000003.11:g.(?_121973037)_(122004038_?)del	deletion	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.91dup (p.Asp31fs)	duplication	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.209G>A (p.Trp70Ter)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1868del (p.Gly623fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1081C>T (p.Gln361Ter)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.547_548del (p.Phe183fs)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1773_1774del (p.Ser591_Asn592insTer)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.924_925dup (p.Gln309fs)	duplication	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1054del (p.Trp352fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1783del (p.His595fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2506G>T (p.Val836Leu)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.379G>A (p.Glu127Lys)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2008G>C (p.Gly670Arg)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.386G>A (p.Cys129Tyr)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.493-2A>C	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1802del (p.Lys601fs)	deletion	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.961_962del (p.Ala321fs)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2148dup (p.Lys717fs)	duplication	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2043G>T (p.Gln681His)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1542T>G (p.Tyr514Ter)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.357_358del (p.Lys119fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.384C>G (p.Phe128Leu)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.112_113insC (p.Phe38fs)	insertion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1377+1G>T	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1672dup (p.Glu558fs)	duplication	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.157T>C (p.Ser53Pro)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2156G>A (p.Trp719Ter)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.139A>G (p.Lys47Glu)	single nucleotide variant	Familial hypocalciuric hypercalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1983C>A (p.Cys661Ter)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1A>G (p.Met1Val)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.666del (p.Ile223fs)	deletion	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.349C>T (p.Gln117Ter)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1898_1932dup (p.Ala645fs)	duplication	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1377+2T>A	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	Single allele	insertion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2008G>A (p.Gly670Arg)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.452C>T (p.Thr151Met)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1676C>A (p.Pro559His)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.380A>G (p.Glu127Gly)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1685G>C (p.Cys562Ser)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser)	indel	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1884del (p.Phe629fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1934C>A (p.Ala645Asp)	single nucleotide variant	Familial hypoparathyroidism	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2014C>A (p.Pro672Thr)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2435T>C (p.Leu812Pro)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2489G>A (p.Gly830Asp)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NC_000003.12:g.(?_122282103)_(122285191_?)del	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2644A>T (p.Lys882Ter)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.643G>C (p.Asp215His)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.974G>A (p.Gly325Glu)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	single nucleotide variant	Autosomal dominant hypocalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.662C>A (p.Pro221Gln)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.85A>G (p.Lys29Glu)	single nucleotide variant	Hypocalcemia, autosomal dominant 1, with bartter syndrome	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2482A>C (p.Thr828Pro)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2039G>A (p.Arg680His)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.427G>A (p.Gly143Arg)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.166G>T (p.Glu56Ter)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2417T>C (p.Phe806Ser)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.554del (p.Arg185fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2362T>C (p.Phe788Leu)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.448_449dup (p.Thr151fs)	microsatellite	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.354C>A (p.Asn118Lys)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.503C>T (p.Ala168Val)	single nucleotide variant	Familial hypocalciuric hypercalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.382T>C (p.Phe128Leu)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.571G>A (p.Glu191Lys)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2009G>A (p.Gly670Glu)	single nucleotide variant	Neonatal severe primary hyperparathyroidism	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.115C>G (p.Pro39Ala)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1512_1515del (p.Phe505fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.166del (p.Glu56fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.733C>T (p.Gln245Ter)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu)	indel	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1835T>C (p.Phe612Ser)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1972del (p.Leu658fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2244delinsCC (p.Ser749fs)	indel	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.384C>A (p.Phe128Leu)	single nucleotide variant	Inborn genetic diseases	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.679C>T (p.Arg227Ter)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1609-2A>G	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.197G>A (p.Arg66His)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs)	indel	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.532A>G (p.Asn178Asp)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.493-2A>G	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CXCR2	NM_001557.4(CXCR2):c.623G>A (p.Arg208Gln)	single nucleotide variant	WHIM syndrome 2	IL8R_B\|IL-8R2\|KC receptor\|CD182\|CXC-R2\|GRO/MGSA receptor\|high affinity interleukin-8 receptor B\|CD128\|Gpcr16\|chemokine (C-X-C motif) receptor 2
CXCR2	NM_001557.4(CXCR2):c.968del (p.His323fs)	deletion	WHIM syndrome 2	IL8R_B\|IL-8R2\|KC receptor\|CD182\|CXC-R2\|GRO/MGSA receptor\|high affinity interleukin-8 receptor B\|CD128\|Gpcr16\|chemokine (C-X-C motif) receptor 2
CXCR4	NM_003467.3(CXCR4):c.994G>T (p.Gly332Ter)	single nucleotide variant	WHIM syndrome	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1025_1028del (p.Thr342fs)	deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1006G>T (p.Gly336Ter)	single nucleotide variant	WHIM syndrome	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.893_1034dup (p.Glu345_Ser346insProHisProLeuCysPheProTrpSerGlnIleTer)	duplication	WHIM syndrome	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.950_953del (p.Leu317fs)	deletion	Inherited Immunodeficiency Diseases	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter)	single nucleotide variant	WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 1	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1027G>T (p.Glu343Ter)	single nucleotide variant	WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 1	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs)	deletion	WHIM syndrome 1	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.959_960del (p.Val320fs)	microsatellite	Warts, hypogammaglobulinemia, infections, and myelokathexis	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)	single nucleotide variant	WHIM syndrome 1	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter)	single nucleotide variant	WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 1	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
ACKR3	NM_020311.3(ACKR3):c.772G>A (p.Val258Met)	single nucleotide variant	Oculomotor-abducens synkinesis	chemokine (C-X-C motif) receptor 7\|chemokine orphan receptor 1\|CXCR7\|Cxcr7\|GPR159\|G-protein coupled receptor 159\|G-protein coupled receptor RDC1 homolog\|RDC-1
GPR68	NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)	single nucleotide variant	Amelogenesis imperfecta, hypomaturation type, IIa6	GPR12A\|Ovarian cancer G-protein coupled receptor 1\|sphingosylphosphorylcholine receptor\|OGR1
GPR68	NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del)	deletion	Amelogenesis imperfecta, hypomaturation type, IIa6	GPR12A\|Ovarian cancer G-protein coupled receptor 1\|sphingosylphosphorylcholine receptor\|OGR1
GPR68	NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)	deletion	Amelogenesis imperfecta, hypomaturation type, IIa6	GPR12A\|Ovarian cancer G-protein coupled receptor 1\|sphingosylphosphorylcholine receptor\|OGR1
GPR68	NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs)	indel	Amelogenesis imperfecta	GPR12A\|Ovarian cancer G-protein coupled receptor 1\|sphingosylphosphorylcholine receptor\|OGR1
GPR88	NM_022049.3(GPR88):c.873C>A (p.Cys291Ter)	single nucleotide variant	Chorea, childhood-onset, with psychomotor retardation	STRG\|striatum-specific G-protein coupled receptor
GPR153	NM_207370.4(GPR153):c.217C>T (p.Arg73Cys)	single nucleotide variant	Childhood-Onset Schizophrenia	PGR1
LGR4	NM_018490.5(LGR4):c.286A>G (p.Ile96Val)	single nucleotide variant	DELAYED PUBERTY, SELF-LIMITED	GPR48\|leucine-rich repeat-containing G protein-coupled receptor 4\|leucine-rich repeat containing G protein-coupled receptor 4
LGR4	NM_018490.5(LGR4):c.2531A>G (p.Asp844Gly)	single nucleotide variant	DELAYED PUBERTY, SELF-LIMITED	GPR48\|leucine-rich repeat-containing G protein-coupled receptor 4\|leucine-rich repeat containing G protein-coupled receptor 4
LGR4	NM_018490.5(LGR4):c.1087G>T (p.Gly363Cys)	single nucleotide variant	DELAYED PUBERTY, SELF-LIMITED	GPR48\|leucine-rich repeat-containing G protein-coupled receptor 4\|leucine-rich repeat containing G protein-coupled receptor 4
LPAR6	LPAR6, 4-BP INS, 69CATG	insertion	Autosomal recessive woolly hair 1, with or without hypotrichosis	P2RY5\|LPA receptor 6\|oleoyl-L-alpha-lysophosphatidic acid receptor\|P2Y purinoceptor 5\|purinergic receptor 5
LPAR6	LPAR6, 2-BP DEL, 373AA	deletion	Woolly hair, autosomal recessive 1	P2RY5\|LPA receptor 6\|oleoyl-L-alpha-lysophosphatidic acid receptor\|P2Y purinoceptor 5\|purinergic receptor 5
P2RY8	NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg)	single nucleotide variant	Multiple myeloma	G-protein coupled purinergic receptor P2Y8\|P2Y purinoceptor 8\|purinergic receptor P2Y8
ADGRB2	NM_001364857.2(ADGRB2):c.4393C>T (p.Arg1465Trp)	single nucleotide variant	Progressive spastic paraparesis	BAI2\|brain-specific angiogenesis inhibitor 2
ADGRB3	NM_001704.3(ADGRB3):c.4298G>A (p.Arg1433Lys)	single nucleotide variant	Short stature	BAI3\|brain-specific angiogenesis inhibitor 3
ADGRB3	NM_001704.3(ADGRB3):c.2294T>C (p.Val765Ala)	single nucleotide variant	Short stature	BAI3\|brain-specific angiogenesis inhibitor 3
CELSR1	NM_001378328.1(CELSR1):c.2042del (p.Asn681fs)	deletion	Lymphatic malformation	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter)	single nucleotide variant	Lymphatic malformation	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.6739+1G>A	single nucleotide variant	Lymphatic malformation	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.5226+2T>A	single nucleotide variant	Lymphatic malformation	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.5702-1G>C	single nucleotide variant	Lymphatic malformation	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.5121dup (p.Ile1708fs)	duplication	Lymphatic malformation 9	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.5871G>A (p.Trp1957Ter)	single nucleotide variant	Lymphatic malformation 9	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR2	NM_001408.3(CELSR2):c.8235_8246dup (p.Glu2749_Glu2752dup)	duplication	OFDS III	ADGRC2 (adhesion G protein-coupled receptor C2)\|MEGF3\|multiple epidermal growth factor-like domains 3
CELSR2	NM_001408.3(CELSR2):c.3830C>T (p.Pro1277Leu)	single nucleotide variant	Global developmental delay	ADGRC2 (adhesion G protein-coupled receptor C2)\|MEGF3\|multiple epidermal growth factor-like domains 3
CELSR2	NM_001408.3(CELSR2):c.2858A>G (p.Asn953Ser)	single nucleotide variant	Tracheoesophageal fistula	ADGRC2 (adhesion G protein-coupled receptor C2)\|MEGF3\|multiple epidermal growth factor-like domains 3
ADGRE2	NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr)	single nucleotide variant	Vibratory urticaria	EMR2 (EGF-like module-containing, mucin-like, hormone receptor-like 2)\|CD312 (cluster of differentiation 312)
ADGRG1	NM_201525.4(ADGRG1):c.1167+3G>C	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1352A>G (p.Asp451Gly)	single nucleotide variant	Inborn genetic diseases	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.620+1G>A	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter)	single nucleotide variant	Polymicrogyria, bilateral perisylvian, autosomal recessive	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs)	duplication	Global developmental delay	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.621-1G>C	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.263A>G (p.Tyr88Cys)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1141C>T (p.His381Tyr)	single nucleotide variant	CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.-36+10587_-36+10601del	microsatellite	Polymicrogyria, bilateral perisylvian, autosomal recessive	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro)	single nucleotide variant	CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG2	NM_001079858.3(ADGRG2):c.2845del (p.Cys949fs)	deletion	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.1013del (p.Pro338fs)	deletion	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.2096dup (p.Phe700fs)	duplication	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.1460del (p.Gly487fs)	deletion	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.2002_2006delinsAGA (p.Leu668fs)	indel	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.251C>G (p.Ser84Ter)	single nucleotide variant	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.1545dup (p.Glu516Ter)	duplication	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.1731_1839+373del	deletion	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.2473C>T (p.Arg825Ter)	single nucleotide variant	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.2033_2035delinsACTCGTGGATTGCTCTG (p.Val678fs)	indel	Obstructive azoospermia	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRV1	NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)	single nucleotide variant	Usher's syndrome	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.11253C>G (p.Tyr3751Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410dup)	duplication	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17195C>T (p.Pro5732Leu)	single nucleotide variant	Idiopathic generalized epilepsy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del	deletion	Usher Syndromes	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	single nucleotide variant	Usher Syndromes	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7406G>A (p.Trp2469Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)	single nucleotide variant	Usher Syndrome, Type II	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7374_7375del (p.Glu2459fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser)	single nucleotide variant	Idiopathic generalized epilepsy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter)	single nucleotide variant	USHER SYNDROME, TYPE IIC	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12829C>T (p.Arg4277Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2870dup (p.Asn957fs)	duplication	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del	deletion	Usher Syndromes	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu)	single nucleotide variant	Autosomal recessive sensorineural hearing loss	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs)	duplication	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8495C>A (p.Ser2832Ter)	single nucleotide variant	Febrile seizures, familial, 4	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8737del (p.Val2913fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs)	deletion	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter)	single nucleotide variant	Usher syndrome type 2C	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9748+2T>C	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12511G>T (p.Gly4171Cys)	single nucleotide variant	ADGRV1-related myoclonic epilepsy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)	duplication	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17974-1G>C	single nucleotide variant	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)	single nucleotide variant	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8620C>T (p.Gln2874Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NC_000005.10:g.(?_90614729)_(90784051_?)del	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1180del (p.Ser394fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.4379-1G>A	single nucleotide variant	Tapetoretinal degeneration	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17195del (p.Pro5732fs)	deletion	Tapetoretinal degeneration	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter)	single nucleotide variant	Usher syndrome	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16197-1G>T	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17662del (p.Ser5888fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter)	single nucleotide variant	Usher syndrome type 2C	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14973-2A>G	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12403+1G>T	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser)	single nucleotide variant	Idiopathic generalized epilepsy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.4752+2T>G	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17137del (p.Ala5713fs)	deletion	Usher syndrome, type IIC, GPR98/PDZD7 digenic	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.13232-1G>A	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.11122-1G>C	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)	single nucleotide variant	USHER SYNDROME, TYPE IIC	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9749-2del	deletion	CONVULSIONS, FAMILIAL FEBRILE, 4	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs)	deletion	Usher syndrome type 2C	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.11484_11487del (p.Asn3828fs)	deletion	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14972+1G>T	single nucleotide variant	Usher syndrome type 2C	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12125del (p.Met4042fs)	deletion	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del (p.(?))	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs)	duplication	USHER SYNDROME, TYPE IIA	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=)	single nucleotide variant	USHER SYNDROME, TYPE IIA	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer)	microsatellite	USHER SYNDROME, TYPE IIA	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs)	deletion	USHER SYNDROME, TYPE IIA	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16368G>C (p.Lys5456Asn)	single nucleotide variant	Hearing impairment	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2680del (p.Ser894fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)del	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.5643del (p.Tyr1882fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)	duplication	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9906+1G>A	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.10940del (p.Asn3647fs)	deletion	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter)	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs)	deletion	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.10060_10063del (p.Thr3354fs)	microsatellite	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9907-1G>A	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter)	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2241-2A>G	single nucleotide variant	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16940del (p.Val5647fs)	deletion	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs)	duplication	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1239-8C>G	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter)	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)	deletion	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs)	duplication	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)	single nucleotide variant	Usher syndrome, type I, French variety	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12101T>G (p.Phe4034Cys)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)	single nucleotide variant	Usher's syndrome	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1701del (p.Leu568fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.3:c.16079-1455_c.16196+155del	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8790del (p.Met2931fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.5504_5507del (p.Leu1835fs)	microsatellite	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRG6	NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)	single nucleotide variant	Lethal congenital contracture syndrome 9	GPR126 (G protein-coupled receptor 126)\|developmentally regulated GPCR\|vascular inducible GPCR
ADGRG6	NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)	single nucleotide variant	Lethal congenital contracture syndrome 9	GPR126 (G protein-coupled receptor 126)\|developmentally regulated GPCR\|vascular inducible GPCR
ADGRG6	NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter)	single nucleotide variant	Lethal congenital contracture syndrome 9	GPR126 (G protein-coupled receptor 126)\|developmentally regulated GPCR\|vascular inducible GPCR
ADGRG6	NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs)	duplication	Lethal congenital contracture syndrome 9	GPR126 (G protein-coupled receptor 126)\|developmentally regulated GPCR\|vascular inducible GPCR
GPR143	NM_000273.3(GPR143):c.767+1G>A	single nucleotide variant	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.346T>G (p.Cys116Gly)	single nucleotide variant	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.456-5_463del	deletion	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.548+2T>C	single nucleotide variant	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.360+2T>C	single nucleotide variant	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.361-2A>C	single nucleotide variant	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.548+2T>A	single nucleotide variant	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NC_000023.9:g.9688757-?_9693917+?del	deletion	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.397T>A (p.Trp133Arg)	single nucleotide variant	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.104G>A (p.Gly35Asp)	single nucleotide variant	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	GPR143, 37-BP DEL	deletion	Nystagmus 6, congenital, X-linked	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.768-1G>A	single nucleotide variant	Inborn genetic diseases	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	GPR143, 2-BP INS, NT992	insertion	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.779A>G (p.Asn260Ser)	single nucleotide variant	Albinism	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.12_36del (p.Leu6fs)	deletion	Nystagmus	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	GPR143, 19-BP DUP	duplication	Nystagmus 6, congenital, X-linked	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	GPR143, 14-BP DEL, NT816	deletion	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.266C>T (p.Ser89Phe)	single nucleotide variant	Nystagmus 6, congenital, X-linked	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.874T>G (p.Trp292Gly)	single nucleotide variant	Albinism	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.695C>A (p.Thr232Lys)	single nucleotide variant	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.397T>C (p.Trp133Arg)	single nucleotide variant	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	GPR143, 17-BP DEL	deletion	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.223dup (p.Ala75fs)	duplication	Nettleship-Falls type ocular albinism	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.731del (p.Ile244fs)	deletion	Nystagmus 6, congenital, X-linked	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR179	NM_001004334.4(GPR179):c.1784+1G>A	single nucleotide variant	Congenital stationary night blindness 1E	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.799_803delinsTGATCTAC (p.Gln267_Val268delinsTer)	indel	Congenital stationary night blindness	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.187del (p.Leu63fs)	deletion	Congenital stationary night blindness 1E	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.481C>T (p.Gln161Ter)	single nucleotide variant	Congenital stationary night blindness 1E	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.278del (p.Pro93fs)	deletion	Congenital stationary night blindness 1E	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs)	duplication	Congenital stationary night blindness	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)	single nucleotide variant	Congenital stationary night blindness 1E	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs)	duplication	Night blindness, congenital stationary (complete), 1E, autosomal recessive	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.148C>T (p.Gln50Ter)	single nucleotide variant	Congenital stationary night blindness 1E	GPR158-like 1
EDNRA	NM_001957.4(EDNRA):c.386A>T (p.Tyr129Phe)	single nucleotide variant	Mandibulofacial dysostosis with alopecia	ENDOR\|endothelin A receptor\|endothelin-1 receptor\|ET-AR\|Gpcr10
EDNRA	NM_001957.4(EDNRA):c.907G>A (p.Glu303Lys)	single nucleotide variant	Mandibulofacial dysostosis with alopecia	ENDOR\|endothelin A receptor\|endothelin-1 receptor\|ET-AR\|Gpcr10
EDNRB	NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)	single nucleotide variant	WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A	HSCR\|HSCR2\|endothelin B receptor\|ET-BR
FZD2	NM_001466.4(FZD2):c.367_388dup (p.Phe130fs)	duplication	Covesdem syndrome (formerly)	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser)	single nucleotide variant	Autosomal dominant Robinow syndrome 2	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)	single nucleotide variant	Covesdem syndrome (formerly)	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1403T>G (p.Leu468Arg)	single nucleotide variant	Short stature	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1301G>T (p.Gly434Val)	single nucleotide variant	Autosomal dominant Robinow syndrome 3	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val)	indel	Autosomal dominant Robinow syndrome 2	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter)	single nucleotide variant	Autosomal dominant Robinow syndrome 2	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD3	NM_017412.4(FZD3):c.888del (p.Phe296fs)	deletion	Colorectal cancer	Fz3\|frizzled 3\|frizzled family receptor 3\|frizzled homolog 3
FZD3	NM_017412.4(FZD3):c.1616dup (p.Asp539fs)	duplication	Hydrocephalus	Fz3\|frizzled 3\|frizzled family receptor 3\|frizzled homolog 3
FZD4	NM_012193.4(FZD4):c.40_49del (p.Pro14fs)	microsatellite	Exudative vitreoretinopathy	Fz4\|CD344\|EVR1\|exudative vitreoretinopathy 1\|frizzled family receptor 4\|frizzled receptor 4
FZD5	NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn)	insertion	COLOBOMA OF IRIS, CHOROID, AND RETINA	frizzled family receptor 5\|Fz5
FZD5	NM_003468.4(FZD5):c.820del (p.Leu274fs)	deletion	COLOBOMA OF IRIS, CHOROID, AND RETINA	frizzled family receptor 5\|Fz5
FZD5	NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del)	deletion	COLOBOMA OF IRIS, CHOROID, AND RETINA	frizzled family receptor 5\|Fz5
FZD6	NM_003506.4(FZD6):c.346C>T (p.Arg116Ter)	single nucleotide variant	Wilms' tumor	Fz6\|frizzled family receptor 6
FZD6	NM_003506.4(FZD6):c.1525C>T (p.Arg509Ter)	single nucleotide variant	Onychodystrophy totalis, isolated	Fz6\|frizzled family receptor 6
FZD6	NM_003506.4(FZD6):c.1312G>A (p.Glu438Lys)	single nucleotide variant	Onychodystrophy totalis, isolated	Fz6\|frizzled family receptor 6
FZD6	NM_003506.4(FZD6):c.1393-2A>G	single nucleotide variant	Onychodystrophy totalis, isolated	Fz6\|frizzled family receptor 6
SMO	NM_005631.5(SMO):c.1198C>T (p.Arg400Cys)	single nucleotide variant	Hypothalamic hamartoma	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.754T>C (p.Phe252Leu)	single nucleotide variant	Hypothalamic hamartoma	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.781C>T (p.Arg261Cys)	single nucleotide variant	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1417G>C (p.Asp473His)	single nucleotide variant	Basal cell carcinoma	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1604G>T (p.Trp535Leu)	single nucleotide variant	Basal cell carcinoma, somatic	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1285A>T (p.Ile429Phe)	single nucleotide variant	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1726C>T (p.Arg576Trp)	single nucleotide variant	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1727G>A (p.Arg576Gln)	single nucleotide variant	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1685G>A (p.Arg562Gln)	single nucleotide variant	Basal cell carcinoma, somatic	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1234C>T (p.Leu412Phe)	single nucleotide variant	Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.2291_2292del (p.Gln764fs)	deletion	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1339G>T (p.Glu447Ter)	single nucleotide variant	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
GABBR2	NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)	single nucleotide variant	Inborn genetic diseases	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp)	single nucleotide variant	Developmental and epileptic encephalopathy, 59	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile)	single nucleotide variant	Developmental and epileptic encephalopathy, 59	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn)	single nucleotide variant	Developmental and epileptic encephalopathy, 59	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 59	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile)	single nucleotide variant	Intellectual functioning disability	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.1700C>T (p.Ala567Val)	single nucleotide variant	Epileptic encephalopathy	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GHSR	NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)	single nucleotide variant	Short stature due to growth hormone secretagogue receptor deficiency	growth hormone-releasing peptide receptor\|GH-releasing peptide receptor\|GHS-R\|ghrelin receptor 1a
GHSR	NM_198407.2(GHSR):c.6G>A (p.Trp2Ter)	single nucleotide variant	Short stature due to growth hormone secretagogue receptor deficiency	growth hormone-releasing peptide receptor\|GH-releasing peptide receptor\|GHS-R\|ghrelin receptor 1a
GHRHR	NG_021416.1:g.4925A>C	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.431T>A (p.Leu144His)	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro)	single nucleotide variant	IGHD IB	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys)	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu)	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NC_000007.14:g.31008681G>T	single nucleotide variant	IGHD IB	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu)	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	Single allele	indel	IGHD IB	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.495C>A (p.His165Gln)	single nucleotide variant	IGHD IB	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter)	single nucleotide variant	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.967C>T (p.Gln323Ter)	single nucleotide variant	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys)	single nucleotide variant	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.57+1G>A	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)	single nucleotide variant	IGHD IB	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GCGR	GCGR, ARG8TER	variation	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
GCGR	GCGR, 1-BP INS, EX4	insertion	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
GCGR	GCGR, GLN327TER	variation	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
GCGR	NM_000160.5(GCGR):c.879-1G>A	single nucleotide variant	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
GCGR	NM_000160.5(GCGR):c.187G>A (p.Asp63Asn)	single nucleotide variant	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
GCGR	NM_000160.5(GCGR):c.256C>T (p.Pro86Ser)	single nucleotide variant	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
FSHR	NM_000145.4(FSHR):c.662T>G (p.Val221Gly)	single nucleotide variant	OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1760C>A (p.Pro587His)	single nucleotide variant	Gonadal dysgenesis, XX type	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.374T>G (p.Leu125Arg)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1801C>G (p.Leu601Val)	single nucleotide variant	OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.566C>T (p.Ala189Val)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.2T>C (p.Met1Thr)	single nucleotide variant	Amenorrhea	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1345A>G (p.Thr449Ala)	single nucleotide variant	Ovarian hyperstimulation syndrome	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1679_1685del (p.Asn560fs)	deletion	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.683C>T (p.Thr228Ile)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1763T>C (p.Ile588Thr)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.884C>T (p.Ser295Phe)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1396G>A (p.Glu466Lys)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1862C>T (p.Ala621Val)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1384G>C (p.Ala462Pro)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.349C>T (p.Gln117Ter)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1717C>T (p.Arg573Cys)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.671A>T (p.Asp224Val)	single nucleotide variant	OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1346C>T (p.Thr449Ile)	single nucleotide variant	Ovarian hyperstimulation syndrome	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1699G>A (p.Asp567Asn)	single nucleotide variant	Ovarian hyperstimulation syndrome	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1555C>A (p.Pro519Thr)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1634T>C (p.Ile545Thr)	single nucleotide variant	Ovarian hyperstimulation syndrome	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1255G>A (p.Ala419Thr)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1043C>G (p.Pro348Arg)	single nucleotide variant	OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1724C>T (p.Ala575Val)	single nucleotide variant	OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.383C>A (p.Ser128Tyr)	single nucleotide variant	Ovarian hyperstimulation syndrome	Follitropin receptor\|LGR1\|FSH-R
LHCGR	LHCGR, 33-BP INS, NT54	insertion	Leydig cell agenesis	Choriogonadotropin receptor\|LCGR\|LGR2\|LHR\|lutropin-choriogonadotropic hormone receptor\|LH-R
LHCGR	LHCGR, EX10DEL	deletion	Leydig cell hypoplasia, partial	Choriogonadotropin receptor\|LCGR\|LGR2\|LHR\|lutropin-choriogonadotropic hormone receptor\|LH-R
LHCGR	LHCGR, LEU-GLN INS, CODON 19-20	insertion	Luteinizing hormone/choriogonadotropin receptor, lq variant	Choriogonadotropin receptor\|LCGR\|LGR2\|LHR\|lutropin-choriogonadotropic hormone receptor\|LH-R
LHCGR	LHCGR, 6-BP DEL, NT1822	deletion	Luteinizing hormone resistance, female	Choriogonadotropin receptor\|LCGR\|LGR2\|LHR\|lutropin-choriogonadotropic hormone receptor\|LH-R
TSHR	TSHR, 18-BP DEL, 4-BP INS	indel	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.970C>T (p.Gln324Ter)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.326G>A (p.Arg109Gln)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1228G>A (p.Asp410Asn)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1575C>A (p.Phe525Leu)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1430C>T (p.Thr477Ile)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.548A>G (p.Lys183Arg)	single nucleotide variant	Familial gestational hyperthyroidism	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.842G>A (p.Ser281Asn)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1887G>T (p.Leu629Phe)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1514G>A (p.Ser505Asn)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.2015G>A (p.Cys672Tyr)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1526T>C (p.Val509Ala)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1915C>T (p.Pro639Ser)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1897G>C (p.Asp633His)	single nucleotide variant	THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1291G>A (p.Gly431Ser)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1891T>C (p.Phe631Leu)	single nucleotide variant	Thyroid adenoma, hyperfunctioning, somatic	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1867_1868delinsAT (p.Ala623Ile)	indel	Thyroid adenoma, hyperfunctioning, somatic	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1856A>G (p.Asp619Gly)	single nucleotide variant	Thyroid adenoma, hyperfunctioning, somatic	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.928C>T (p.Arg310Cys)	single nucleotide variant	not specified	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1358T>C (p.Met453Thr)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1798T>C (p.Cys600Arg)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	TSHR, 2-BP DEL, 654AC	deletion	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.545+3G>C	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.545+2_545+3del	microsatellite	Hypothyroidism, congenital, nongoitrous, 1	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1400T>C (p.Leu467Pro)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.545+5G>T	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.842G>T (p.Ser281Ile)	single nucleotide variant	Thyroid adenoma, hyperfunctioning, somatic	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1777del (p.Ala593fs)	deletion	Hypothyroidism, congenital, nongoitrous, 1	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.500T>A (p.Ile167Asn)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
GNRHR	NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)	single nucleotide variant	Isolated GnRH Deficiency	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.651C>A (p.Ser217Arg)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.941T>A (p.Leu314Ter)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.415C>T (p.Arg139Cys)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.31C>A (p.Gln11Lys)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.416G>A (p.Arg139His)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	single nucleotide variant	Isolated congenital hypogonadotropic hypogonadism	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.523-1G>A	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.392T>C (p.Met131Thr)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.959C>T (p.Pro320Leu)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.386C>A (p.Ala129Asp)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.806C>T (p.Thr269Met)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
KISS1R	NM_032551.5(KISS1R):c.443T>C (p.Leu148Ser)	single nucleotide variant	Hypogonadotropic hypogonadism 8 without anosmia	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	NM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg)	single nucleotide variant	Hypogonadotropic hypogonadism 8 without anosmia	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	NM_032551.5(KISS1R):c.969C>A (p.Tyr323Ter)	single nucleotide variant	Abnormality of the genitourinary system	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	NM_032551.5(KISS1R):c.710G>C (p.Arg237Pro)	single nucleotide variant	Pituitary stalk interruption syndrome	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	NM_032551.5(KISS1R):c.937T>C (p.Tyr313His)	single nucleotide variant	Hypogonadotropic hypogonadism 8 without anosmia	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	KISS1R, 155-BP DEL	deletion	Hypogonadotropic hypogonadism 8 without anosmia	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	NM_032551.5(KISS1R):c.991C>T (p.Arg331Ter)	single nucleotide variant	Hypogonadotropic hypogonadism 8 without anosmia	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
S1PR2	NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro)	single nucleotide variant	Deafness, autosomal recessive 68	edg5\|Gpcr13\|endothelial differentiation G protein-coupled receptor 5\|G protein-coupled receptor 13\|GPCR18\|S1P receptor 2
S1PR2	NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys)	single nucleotide variant	Deafness, autosomal recessive 68	edg5\|Gpcr13\|endothelial differentiation G protein-coupled receptor 5\|G protein-coupled receptor 13\|GPCR18\|S1P receptor 2
MC1R	NM_002386.4(MC1R):c.840del (p.Phe280fs)	deletion	BLOND HAIR/FAIR SKIN	MSH-R\|melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC1R	NM_002386.4(MC1R):c.894C>G (p.Tyr298Ter)	single nucleotide variant	Skin and Hair Hypopigmentation	MSH-R\|melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC1R	NM_002386.4(MC1R):c.512C>G (p.Ala171Gly)	single nucleotide variant	Skin and Hair Hypopigmentation	MSH-R\|melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC2R	NM_000529.2(MC2R):c.424G>T (p.Val142Leu)	single nucleotide variant	Glucocorticoid deficiency, due to ACTH unresponsiveness	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.459dup (p.Ile154fs)	duplication	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.752G>T (p.Cys251Phe)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	MC2R, 1-BP INS, 1347A	insertion	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.319G>A (p.Asp107Asn)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.382C>T (p.Arg128Cys)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.360C>G (p.Ser120Arg)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.676G>C (p.Gly226Arg)	single nucleotide variant	ACTH resistance	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.601C>T (p.Arg201Ter)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.573C>A (p.Cys191Ter)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.376G>T (p.Ala126Ser)	single nucleotide variant	Adrenal unresponsiveness to acth	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.674T>G (p.Leu225Arg)	single nucleotide variant	Glucocorticoid deficiency, due to ACTH unresponsiveness	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.702del (p.Phe235fs)	deletion	Glucocorticoid deficiency, due to ACTH unresponsiveness	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.410G>C (p.Arg137Pro)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.433C>T (p.Arg145Cys)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.465G>C (p.Trp155Cys)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.560del (p.Val187fs)	deletion	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.437G>A (p.Arg146His)	single nucleotide variant	Glucocorticoid deficiency 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC4R	NM_005912.3(MC4R):c.258G>T (p.Leu86Phe)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.496G>A (p.Val166Ile)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.494G>A (p.Arg165Gln)	single nucleotide variant	Obesity
MC4R	NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.831T>A (p.Cys277Ter)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.268G>A (p.Asp90Asn)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	GRCh37/hg19 18q21.32(chr18:57940764-58095560)x1	copy number loss	See cases
MC4R	NM_005912.3(MC4R):c.206T>G (p.Ile69Arg)	single nucleotide variant	Obesity, autosomal dominant
MC4R	NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.896C>A (p.Pro299His)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)	microsatellite	Obesity disorder
MC4R	NM_005912.3(MC4R):c.538T>C (p.Ser180Pro)	single nucleotide variant	Obesity disorder
MC4R	NM_005912.3(MC4R):c.656C>T (p.Ala219Val)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	MC4R, 15-BP DEL	deletion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.185A>G (p.Asn62Ser)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.289A>G (p.Asn97Asp)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.750_751del (p.Ile251fs)	deletion	Obesity, autosomal dominant
MC4R	NM_005912.3(MC4R):c.305T>G (p.Ile102Ser)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.947T>G (p.Ile316Ser)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.838T>C (p.Phe280Leu)	single nucleotide variant	OBESITY, SUSCEPTIBILITY TO
MC4R	I125K	variation	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	MC4R, 4-BP DEL, 211CTCT	deletion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.407C>T (p.Ser136Phe)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.493C>T (p.Arg165Trp)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.542G>A (p.Gly181Asp)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	MC4R, 2-BP INS, 279GT	insertion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	MC4R, 4-BP DEL, NT631	deletion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)	single nucleotide variant	Obesity, autosomal dominant
MC4R	MC4R, 4-BP INS, NT732	insertion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.148G>A (p.Val50Met)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.172A>T (p.Ser58Cys)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.508A>G (p.Ile170Val)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	MC4R, 1-BP INS, 112A	insertion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)	single nucleotide variant	Obesity, autosomal dominant
GRM1	NM_001278064.2(GRM1):c.26dup (p.Ala11fs)	duplication	Autosomal recessive spinocerebellar ataxia 13	GPRC1A\|metabotropic glutamate receptor 1\|wobl\|MGLUR1\|SCAR13\|glutamate receptor, metabotropic 1\|glutamate receptor
GRM1	NM_001278064.2(GRM1):c.1360C>T (p.Leu454Phe)	single nucleotide variant	Autosomal recessive spinocerebellar ataxia 13	GPRC1A\|metabotropic glutamate receptor 1\|wobl\|MGLUR1\|SCAR13\|glutamate receptor, metabotropic 1\|glutamate receptor
GRM1	NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs)	duplication	Spinocerebellar ataxia 44	GPRC1A\|metabotropic glutamate receptor 1\|wobl\|MGLUR1\|SCAR13\|glutamate receptor, metabotropic 1\|glutamate receptor
GRM1	NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys)	single nucleotide variant	Spinocerebellar ataxia 44	GPRC1A\|metabotropic glutamate receptor 1\|wobl\|MGLUR1\|SCAR13\|glutamate receptor, metabotropic 1\|glutamate receptor
GRM1	NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)	single nucleotide variant	Autosomal recessive spinocerebellar ataxia 13	GPRC1A\|metabotropic glutamate receptor 1\|wobl\|MGLUR1\|SCAR13\|glutamate receptor, metabotropic 1\|glutamate receptor
GRM6	NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del	deletion	Leber congenital amaurosis	Gprc1f\|mGluR6\|nob4\|nerg1\|nob2\|nob3\|glutamate receptor
GRM6	GRM6, 1-BP INS, 720G	insertion	NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE	Gprc1f\|mGluR6\|nob4\|nerg1\|nob2\|nob3\|glutamate receptor
GRM6	NM_000843.4(GRM6):c.577del (p.Val193fs)	deletion	Congenital stationary night blindness	Gprc1f\|mGluR6\|nob4\|nerg1\|nob2\|nob3\|glutamate receptor
GRM6	NM_000843.4(GRM6):c.722-1G>T	single nucleotide variant	NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE	Gprc1f\|mGluR6\|nob4\|nerg1\|nob2\|nob3\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.1975C>T (p.Arg659Ter)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.1757G>A (p.Trp586Ter)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.2496T>G (p.Ser832Arg)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.461T>C (p.Ile154Thr)	single nucleotide variant	Hypoplasia of the corpus callosum	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.2671G>A (p.Glu891Lys)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.1180G>A (p.Glu394Lys)	single nucleotide variant	Bilateral multifocal epileptiform discharges	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM8	GRCh38/hg38 7q31.33(chr7:126029439-126947804)x1	copy number loss	See cases	Gprc1h\|mGluR8\|GLUR8\|mGluR8b\|glutamate receptor
ACKR1	NM_002036.4(ACKR1):c.286_299del (p.Trp96fs)	deletion	DUFFY NULL; Fy(a-b-)	Duffy antigen/chemokine receptor\|atypical chemokine receptor 1\|CD234\|Dfy\|Duffy blood group, atypical chemokine receptor\|Darc
ACKR1	NM_002036.4(ACKR1):c.265C>T (p.Arg89Cys)	single nucleotide variant	DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE	Duffy antigen/chemokine receptor\|atypical chemokine receptor 1\|CD234\|Dfy\|Duffy blood group, atypical chemokine receptor\|Darc
ACKR1	NM_002036.3(ACKR1):c.-67T>C	single nucleotide variant	Plasmodium vivax, resistance to	Duffy antigen/chemokine receptor\|atypical chemokine receptor 1\|CD234\|Dfy\|Duffy blood group, atypical chemokine receptor\|Darc
OPRM1	NM_000914.5(OPRM1):c.204C>T (p.Ile68=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2309C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2441T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2288C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2293del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2324C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2911G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2389G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2905A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3052G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2910C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3090A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2917T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2368C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3182A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.268C>T (p.Leu90=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.224C>T (p.Ala75Val)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*554T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+4del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3191A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3209T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3230C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3237C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.223G>C (p.Ala75Pro)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+16G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.276_277del (p.Met92fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3097A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2942del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.243C>T (p.Cys81=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.234del (p.Ile79fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.230del (p.Tyr77fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+6del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2959del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-190C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.215C>T (p.Thr72Met)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-179A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-191G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-265T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-172G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-148C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-111del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-109G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-105G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-102C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.193C>T (p.Pro65Ser)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-167G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10999G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-281C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-59TC[1]	microsatellite	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*596C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NC_000006.12:g.154010479C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-427A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.194C>T (p.Pro65Leu)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-196G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*571T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-301T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-98del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-191G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2994C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-194C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-271del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-304G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145280.4(OPRM1):c.-11+28170G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-354G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-358A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-384T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-259A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*544G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*135C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10410C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*133T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*137C>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.390_391del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*416A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*129T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*424T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*466C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.487_488del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*494del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*511C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*513G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*515C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*523T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*446T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*124C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.132_133del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*55G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-209G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*19C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*37G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*114T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*94C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*9C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*131T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1174C>T (p.Leu392=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8354T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8366G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*108C>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8425C>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9688T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9696del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*96C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9741A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9737G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9838del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9790del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10943G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9792A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9833G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9875G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9956del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10452C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9965C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10370C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10420C>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10381C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10394G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10409C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*549del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9968A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10411del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10589C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10875C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9783A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10915T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10596C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10606C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10619C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10629T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10688T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10672C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10913C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10525G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10912T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10906A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10889G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10879C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10924del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-225T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.644-83G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-237G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-27C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-111A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*309T>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-119C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.322_323del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*356C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2251A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.118A>G (p.Asn40Asp)	single nucleotide variant	Opioid dependence, susceptibility to, 1	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*796C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*789T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*788G>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*764C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*720C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*674G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*662T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-12C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-7C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-3C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-2A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.736C>T (p.Pro246Ser)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+18C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11281G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9998A>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11239C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*291del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*286A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*659T>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*262C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*217G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*192T>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*183T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*175A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*169C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*148C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*138T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*222G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.739G>A (p.Val247Met)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*656G>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*642G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10853del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10860C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-228C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11189A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10357C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-125G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10336C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10248G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-128T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8234G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8253G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8309del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8322G>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8336C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9971C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10840C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10823C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10820C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10800C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*637C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*600G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*375C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*338G>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11280C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-121T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-127G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*653A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10695A>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10757A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10758A>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10759A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10761C>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10777T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10785C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10799A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10726del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9979C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.742C>T (p.Leu248Phe)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.755T>G (p.Val252Gly)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+168T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11335T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11339G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11342T>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2097G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2071G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2049T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2048C>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2043T>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2027G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1816del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1768A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1753A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1751G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1748A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1738A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2046G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1709C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+274A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+286del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+291C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1650T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+204_1164+205del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1670del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1702T>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1660C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1742A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1701G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+273A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+275del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+270G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+258C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+224C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+212C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1705T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+266C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.754G>A (p.Val252Met)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1739A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+164G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+163T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+15C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+24G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+161A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1039C>T (p.Arg347Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1027G>T (p.Glu343Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.958T>C (p.Trp320Arg)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.866C>A (p.Ala289Asp)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.853C>T (p.Leu285=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.809C>T (p.Ser270Phe)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.800del (p.Leu267fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.767T>G (p.Leu256Arg)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.762T>G (p.Tyr254Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.760T>A (p.Tyr254Asn)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.757T>G (p.Cys253Gly)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.640C>T (p.Gln214Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2250G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2249G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2208A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.528G>C (p.Lys176Asn)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+162C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.629C>T (p.Thr210Ile)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.604C>T (p.Leu202Phe)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.596C>T (p.Ala199Val)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.582G>A (p.Trp194Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.575G>T (p.Cys192Phe)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1727G>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.550C>T (p.Arg184Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.529G>A (p.Ala177Thr)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11334T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.523G>A (p.Val175Ile)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.506T>G (p.Ile169Ser)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.468C>T (p.Ser156=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2144G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2204T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.549C>T (p.Pro183=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10019del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11182A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10113T>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.152del (p.Asp51fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.182C>T (p.Pro61Leu)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+18G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.27C>T (p.Asn9=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+22del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-99T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-11C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-55A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-11C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-2G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-1+11G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-1+51G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-1+70G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-10C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-1+86_-1+87del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-128T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-126C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.78del (p.Ser27fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.74C>A (p.Ala25Glu)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.53C>T (p.Ala18Val)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.7A>G (p.Ser3Gly)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+556del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1583C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1584A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10072G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1587C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1591C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1598G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1582G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-123G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.345A>T (p.Ala115=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-31T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-35C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-25C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-20C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-14C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-7C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-2C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-71C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-28T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-122A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-121T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-17C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+121G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+122G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3445T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3440A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3328T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3322A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2628A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3321A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2722G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2900A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2875G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2846G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2811T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2801A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3240A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11101G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+314A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10972G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2876A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1839A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2529C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2016T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-130C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11116A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+72C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+118G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2499C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2464G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2462C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2459A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+87G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2139G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2509del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2031C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-1977del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-1976A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-1972G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-1971G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-1967A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-33A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2049G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+522del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1585G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+469C>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+47A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+40G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+31G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+478A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.392T>G (p.Leu131Arg)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.644-121T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.644-25T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1070_1071del (p.Ser357fs)	microsatellite	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1074C>T (p.Ser358=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1133C>T (p.Thr378Met)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1149T>C (p.Asp383=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1150A>G (p.Arg384Gly)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1154C>A (p.Thr385Asn)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1159C>A (p.His387Asn)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164G>A (p.Gln388=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+9T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+35G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10127A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10130C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10138A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10170A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10182del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10201C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+52G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10259G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+107del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2279C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+83C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+77T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+75G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+36G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2259G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+88C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*669G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+106T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2260C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1852G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1855T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+103del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1906C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1924C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1956A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1844G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1966C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1978T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+307del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1995C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2011A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11121A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11117C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1973A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.388T>A (p.Tyr130Asn)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1842C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1834G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+409T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+427G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+448del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2004G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+151del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1902T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.644-125T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.644-129A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+115del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+138del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+154A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+109T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+173T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
PTH1R	NM_000316.3(PTH1R):c.310C>T (p.Arg104Ter)	single nucleotide variant	Chondrodysplasia Blomstrand type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu)	single nucleotide variant	Chondrodysplasia Blomstrand type	PPR\|PTHR\|PTHR1
PTH1R	PTH1R, 1-BP DEL, 1122G	deletion	Chondrodysplasia Blomstrand type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1373T>G (p.Ile458Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Jansen type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.668A>G (p.His223Arg)	single nucleotide variant	Metaphyseal chondrodysplasia Murk Jansen type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1049+29C>T	single nucleotide variant	Chondrodysplasia Blomstrand type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.463G>T (p.Glu155Ter)	single nucleotide variant	UNERUPTED SECOND PRIMARY MOLAR	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1229C>G (p.Thr410Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Jansen type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1148G>A (p.Arg383Gln)	single nucleotide variant	Chondrodysplasia Blomstrand type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.639-2A>G	single nucleotide variant	Primary failure of tooth eruption	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.723C>G (p.Asp241Glu)	single nucleotide variant	Pseudohypoparathyroidism	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1453C>T (p.Arg485Ter)	single nucleotide variant	Eiken skeletal dysplasia	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.611T>A (p.Val204Glu)	single nucleotide variant	PRIMARY FAILURE OF TOOTH ERUPTION, NONSYNDROMIC	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1228A>C (p.Thr410Pro)	single nucleotide variant	Metaphyseal chondrodysplasia, Jansen type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.543+1G>A	single nucleotide variant	UNERUPTED SECOND PRIMARY MOLAR	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1050-3C>G	single nucleotide variant	UNERUPTED SECOND PRIMARY MOLAR	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1373T>A (p.Ile458Lys)	single nucleotide variant	Metaphyseal chondrodysplasia Murk Jansen type	PPR\|PTHR\|PTHR1
PTH2R	NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe)	single nucleotide variant	Intellectual disability syndrome	PTHR2
PROKR1	NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln)	single nucleotide variant	Aganglionic megacolon	GPR73a\|VEGFR-1\|ZAQ\|GPR73\|G-protein coupled receptor ZAQ\|G protein-coupled receptor 73
PROKR2	NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln)	single nucleotide variant	PROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)	single nucleotide variant	Kallmann syndrome 3	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.343G>A (p.Val115Met)	single nucleotide variant	PROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.969G>A (p.Met323Ile)	single nucleotide variant	HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.97T>C (p.Tyr33His)	single nucleotide variant	Kallmann syndrome 3	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.685G>C (p.Gly229Arg)	single nucleotide variant	Kallmann syndrome 3	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.691G>A (p.Glu231Lys)	single nucleotide variant	Kallmann syndrome 3	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
TBXA2R	NM_001060.6(TBXA2R):c.787-2A>G	single nucleotide variant	Abnormal platelet aggregation	prostanoid TP receptor\|TXA2-R
TBXA2R	NM_001060.6(TBXA2R):c.548G>A (p.Cys183Tyr)	single nucleotide variant	BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR	prostanoid TP receptor\|TXA2-R
TACR3	NM_001059.3(TACR3):c.692C>T (p.Thr231Ile)	single nucleotide variant	Hypogonadotropic hypogonadism 11 with or without anosmia	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.766T>C (p.Tyr256His)	single nucleotide variant	HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.623G>A (p.Trp208Ter)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.511G>C (p.Ala171Pro)	single nucleotide variant	Delayed puberty	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.278G>A (p.Gly93Asp)	single nucleotide variant	HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser)	single nucleotide variant	HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.737+1G>A	single nucleotide variant	Hypogonadotropic hypogonadism 11 with or without anosmia	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.824G>A (p.Trp275Ter)	single nucleotide variant	HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TRHR	NM_003301.7(TRHR):c.392T>C (p.Ile131Thr)	single nucleotide variant	Hypothyroidism, congenital, nongoitrous, 7	TRH receptor\|thyroliberin receptor\|TRH-R\|TRH-R1
TRHR	NM_003301.7(TRHR):c.242C>G (p.Pro81Arg)	single nucleotide variant	Hypothyroidism, congenital, nongoitrous, 7	TRH receptor\|thyroliberin receptor\|TRH-R\|TRH-R1
TRHR	NM_003301.7(TRHR):c.49C>T (p.Arg17Ter)	single nucleotide variant	Hypothyroidism, congenital, nongoitrous, 7	TRH receptor\|thyroliberin receptor\|TRH-R\|TRH-R1
TRHR	NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr)	indel	Hypothyroidism, congenital, nongoitrous, 7	TRH receptor\|thyroliberin receptor\|TRH-R\|TRH-R1
AVPR2	NM_000054.7(AVPR2):c.738dup (p.Arg247fs)	duplication	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.602G>A (p.Gly201Asp)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.839A>G (p.Tyr280Cys)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.213G>A (p.Trp71Ter)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.102del (p.Leu35fs)	deletion	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.410G>A (p.Arg137His)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.313T>G (p.Phe105Val)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.137T>A (p.Ile46Lys)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.335G>T (p.Cys112Phe)	single nucleotide variant	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.410G>T (p.Arg137Leu)	single nucleotide variant	Nephrogenic syndrome of inappropriate antidiuresis	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.176T>C (p.Leu59Pro)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.290T>C (p.Leu97Pro)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.424del (p.Cys142fs)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.682_683insC (p.Ile228fs)	insertion	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.878G>A (p.Trp293Ter)	single nucleotide variant	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.395C>A (p.Ala132Asp)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.857C>T (p.Pro286Leu)	single nucleotide variant	Inborn genetic diseases	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.24del (p.Ala9fs)	deletion	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.809_810del (p.Val270fs)	microsatellite	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)	single nucleotide variant	Nephrogenic syndrome of inappropriate antidiuresis	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.472del (p.Arg158fs)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.553G>T (p.Gly185Cys)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del)	microsatellite	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.816G>A (p.Met272Ile)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.770dup (p.Gly257_Glu258insTer)	duplication	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.738del (p.Arg247fs)	deletion	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.554del (p.Gly185fs)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.838dup (p.Tyr280fs)	duplication	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.752_758del (p.Arg251fs)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.966del (p.Trp323fs)	deletion	Nephrogenic Diabetes Insipidus, Type I	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.388A>T (p.Ile130Phe)	single nucleotide variant	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.819_821del (p.Leu274del)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.963C>A (p.Asn321Lys)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.853G>C (p.Ala285Pro)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.673C>T (p.Gln225Ter)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.814A>G (p.Met272Val)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.607C>T (p.Arg203Cys)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)	deletion	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.770del (p.Gly257fs)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.513C>G (p.Ser171Arg)	single nucleotide variant	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
TAS2R38	NM_176817.5(TAS2R38):c.886A>G (p.Ile296Val)	single nucleotide variant	Phenylthiocarbamide tasting	phenylthiocarbamide tasting\|PTC\|T2R61\|taste receptor, type 2, member 38
TAS2R38	NM_176817.5(TAS2R38):c.145G>C (p.Ala49Pro)	single nucleotide variant	Phenylthiocarbamide tasting	phenylthiocarbamide tasting\|PTC\|T2R61\|taste receptor, type 2, member 38
OPN1SW	NM_001708.2(OPN1SW):c.640T>C (p.Ser214Pro)	single nucleotide variant	Tritanopia	opsin 1, short wave sensitive\|opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)\|opsin 1\|opsin 1 (cone pigments)
OPN1SW	NM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser)	single nucleotide variant	Tritanopia	opsin 1, short wave sensitive\|opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)\|opsin 1\|opsin 1 (cone pigments)
OPN1LW	NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter)	single nucleotide variant	Color blindness blue mono cone monochromatic type	psin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)\|opsin 1 (cone pigments)\|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LW	NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)	single nucleotide variant	Color blindness blue mono cone monochromatic type	psin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)\|opsin 1 (cone pigments)\|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LW	NM_020061.6(OPN1LW):c.1013G>A (p.Gly338Glu)	single nucleotide variant	COLORBLINDNESS, PARTIAL, PROTAN SERIES	psin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)\|opsin 1 (cone pigments)\|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LW	NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del	deletion	Color blindness blue mono cone monochromatic type	psin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)\|opsin 1 (cone pigments)\|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LW	NM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter)	single nucleotide variant	Color blindness blue mono cone monochromatic type	psin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)\|opsin 1 (cone pigments)\|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1MW	NM_000513.2(OPN1MW):c.282C>A (p.Asn94Lys)	single nucleotide variant	DEUTAN COLORBLINDNESS	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
OPN1MW	NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg)	single nucleotide variant	Color blindness blue mono cone monochromatic type	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
OPN1MW	NM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln)	single nucleotide variant	DEUTAN COLORBLINDNESS	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
OPN1MW	NM_000513.2(OPN1MW):c.807_948del (p.Met269fs)	deletion	Achromatopsia	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
OPN1MW	NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg)	single nucleotide variant	Cone dystrophy 5, X-linked	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
OPN1MW	NM_000513.2(OPN1MW):c.-112A>C	single nucleotide variant	DEUTAN COLORBLINDNESS	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
RHO	NM_000539.3(RHO):c.50C>T (p.Thr17Met)	single nucleotide variant	AllHighlyPenetrant
RHO	NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.851G>A (p.Gly284Asp)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.571T>A (p.Tyr191Asn)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.1039C>T (p.Pro347Ser)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.392T>C (p.Leu131Pro)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.560G>T (p.Cys187Phe)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.549dup (p.Gln184fs)	duplication	Neuropathy, congenital hypomyelinating, 2
RHO	NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del)	deletion	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.647T>G (p.Met216Arg)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.1028G>A (p.Ser343Asn)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.260T>A (p.Val87Asp)	single nucleotide variant	Fundus albipunctatus
RHO	NM_000539.3(RHO):c.886A>G (p.Lys296Glu)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.544G>A (p.Gly182Ser)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.800C>T (p.Pro267Leu)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.979_982del (p.Pro327fs)	deletion	Retinitis pigmentosa
RHO	NM_000539.3(RHO):c.67C>G (p.Pro23Ala)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	single nucleotide variant	Retinitis pigmentosa
RHO	NM_000539.3(RHO):c.946del (p.Cys316fs)	deletion	Autosomal dominant retinitis pigmentosa
RHO	NM_000539.3(RHO):c.520G>A (p.Gly174Ser)	single nucleotide variant	Retinitis pigmentosa
RHO	NM_000539.3(RHO):c.482G>A (p.Trp161Ter)	single nucleotide variant	Retinitis pigmentosa 4, autosomal recessive
RHO	NM_000539.3(RHO):c.632A>C (p.His211Pro)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.68C>A (p.Pro23His)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.620T>G (p.Met207Arg)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.875C>A (p.Ala292Glu)	single nucleotide variant	Congenital stationary night blindness autosomal dominant 1
RHO	NM_000539.3(RHO):c.891C>G (p.Ser297Arg)	single nucleotide variant	Pigmentary retinal dystrophy
RHO	NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.745G>T (p.Glu249Ter)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.532T>C (p.Tyr178His)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.353_361+3del	deletion	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.929del (p.Asn310fs)	deletion	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.886A>C (p.Lys296Gln)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.647T>A (p.Met216Lys)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.538C>G (p.Pro180Ala)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.341G>T (p.Gly114Val)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.548_638dup (p.Ile214fs)	duplication	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.497C>T (p.Ala166Val)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.563G>A (p.Gly188Glu)	single nucleotide variant	AllHighlyPenetrant
RHO	NM_000539.3(RHO):c.937-2A>T	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.557C>G (p.Ser186Trp)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.317G>T (p.Gly106Val)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.45T>G (p.Asn15Lys)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.908C>G (p.Pro303Arg)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.265G>C (p.Gly89Arg)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.328T>G (p.Cys110Gly)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.538C>A (p.Pro180Thr)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.302G>T (p.Gly101Val)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.325G>A (p.Gly109Arg)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.152G>T (p.Gly51Val)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.560G>A (p.Cys187Tyr)	single nucleotide variant	Retinitis pigmentosa
RHO	NM_000539.3(RHO):c.977del (p.Asn326fs)	deletion	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.1040del (p.Pro347fs)	deletion	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.218A>G (p.Asn73Ser)	single nucleotide variant	Retinitis pigmentosa
RHO	NM_000539.3(RHO):c.362G>T (p.Gly121Val)	single nucleotide variant	Congenital stationary night blindness autosomal dominant 1
RHO	NM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu)	indel	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.67C>T (p.Pro23Ser)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.559T>C (p.Cys187Arg)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.730C>T (p.Gln244Ter)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.643C>G (p.Pro215Ala)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.937-2A>G	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter)	indel	Retinal dystrophy
RHO	NM_000539.3(RHO):c.512C>A (p.Pro171Gln)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.673C>T (p.Gln225Ter)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	single nucleotide variant	NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED

Retrieved June 13, 2022, from https://www.ncbi.nlm.nih.gov/clinvar/

Download

zip圧縮タブ区切りテキスト

カテゴリー: Resources

Cookie	期間	説明
cookielawinfo-checkbox-advertisement	1 year	Set by the GDPR Cookie Consent plugin, this cookie is used to record the user consent for the cookies in the "Advertisement" category .
cookielawinfo-checkbox-analytics	1 year	Set by the GDPR Cookie Consent plugin, this cookie is used to record the user consent for the cookies in the "Analytics" category .
cookielawinfo-checkbox-functional	1 year	The cookie is set by GDPR cookie consent to record the user consent for the cookies in the category "Functional".
cookielawinfo-checkbox-necessary	1 year	Set by the GDPR Cookie Consent plugin, this cookie is used to record the user consent for the cookies in the "Necessary" category .
cookielawinfo-checkbox-others	1 year	Set by the GDPR Cookie Consent plugin, this cookie is used to store the user consent for cookies in the category "Others".
cookielawinfo-checkbox-performance	1 year	Set by the GDPR Cookie Consent plugin, this cookie is used to store the user consent for cookies in the category "Performance".

Cookie	期間	説明
_ga	2 years	The _ga cookie, installed by Google Analytics, calculates visitor, session and campaign data and also keeps track of site usage for the site's analytics report. The cookie stores information anonymously and assigns a randomly generated number to recognize unique visitors.
_ga_9W219ZGFBP	2 years	This cookie is installed by Google Analytics.
_gat_gtag_UA_126616094_1	1 minute	Set by Google to distinguish users.
_gid	1 day	Installed by Google Analytics, _gid cookie stores information on how visitors use a website, while also creating an analytics report of the website's performance. Some of the data that are collected include the number of visitors, their source, and the pages they visit anonymously.

Cookie	期間	説明
ANONCHK	10 minutes	The ANONCHK cookie, set by Bing, is used to store a user's session ID and also verify the clicks from ads on the Bing search engine. The cookie helps in reporting and personalization as well.
MUID	1 year 24 days	Bing sets this cookie to recognize unique web browsers visiting Microsoft sites. This cookie is used for advertising, site analytics, and other operations.

Cookie	期間	説明
_clck	1 year	No description
_clsk	1 day	No description
CLID	1 year	No description
SM	session	No description available.
SRM_B	1 year 24 days	No description available.
woocommerce_recently_viewed	session	Description unavailable.
wp_wcpt_session_5e76287f3bc84629a6e944e7e1484fb6	2 days	No description

GPCRの疾患関連遺伝子変異

海外向け試験委託方法案内動画公開

Microsoft for Startups