Disease-associated GPCR variants word cloud

The table below lists GPCR variants associated with pathological conditions. NCBI ClinVar was searched for the receptors in the GPCR Catalog with the parameter for clinical significance as 'pathological,' "likely pathological," and "drug response."

Update – June 13, 2022. All the 415 GPCRs in IUPHAR/BPS Guide to Pharmacology were searched for.
SymbolVariation nameVariant typeConditionSynonyms
HTR2CNM_000868.4(HTR2C):c.1219_1222del (p.Ser407fs)deletionInborn genetic diseases5-HT1C|5-HT2C|HTR1C|5-HTR2C|5-hydroxytryptamine receptor 1C|serotonin 1c receptor|serotonin receptor 2C|5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
CHRM3NM_001375978.1(CHRM3):c.1173_1184delinsT (p.Pro392fs)indelPrune bellyHM4|Chrm-3|M3R|cholinergic receptor, muscarinic 3|cholinergic receptor|cholinergic receptor, muscarinic 3, cardiac
CHRM3NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg)single nucleotide variantPrune bellyHM4|Chrm-3|M3R|cholinergic receptor, muscarinic 3|cholinergic receptor|cholinergic receptor, muscarinic 3, cardiac
ADRA2CNM_000683.4(ADRA2C):c.971_982del (p.Gly324_Ala327del)deletionCongestive heart failure and beta-blocker response, modifier ofα2-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
ADRB1NM_000684.3(ADRB1):c.1165G>C (p.Gly389Arg)single nucleotide variantCongestive heart failure and beta-blocker response, modifier ofADRB1R|Adrenergic receptor beta 1|B1AR|beta-1 adrenergic receptor|beta-1 adrenoreceptor|Adrb-1|beta 1-AR|adrenergic receptor
ADRB2NM_000024.6(ADRB2):c.46G>A (p.Gly16Arg)single nucleotide variantsalmeterol response - EfficacyADRB2R|ADRBR|B2AR|beta-2 adrenergic receptor|beta-2 adrenoreceptor|Adrb-2|beta 2-AR|Gpcr7|adrenoceptor beta 2, surface|adrenergic receptor
ADRB2NM_000024.6(ADRB2):c.491C>T (p.Thr164Ile)single nucleotide variantBeta-2-adrenoreceptor agonist, reduced response toADRB2R|ADRBR|B2AR|beta-2 adrenergic receptor|beta-2 adrenoreceptor|Adrb-2|beta 2-AR|Gpcr7|adrenoceptor beta 2, surface|adrenergic receptor
C3AR1NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs)duplicationAHUS, SUSCEPTIBILITY TO, 1C3AR|C3a anaphylatoxin chemotactic receptor|C3a-R|anaphylatoxin C3a receptor|complement component 3a receptor 1
AGTR1NM_000685.5(AGTR1):c.376C>T (p.Arg126Ter)single nucleotide variantRenal tubular dysgenesisAG2S|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
AGTR1NM_000685.5(AGTR1):c.845C>T (p.Thr282Met)single nucleotide variantRenal tubular dysgenesisAG2S|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
AGTR1NM_000685.5(AGTR1):c.419G>A (p.Arg140His)single nucleotide variantEssential hypertension, geneticAG2S|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
AGTR1NM_000685.5(AGTR1):c.233del (p.Leu78fs)deletionEssential hypertension, geneticAG2S|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
AGTR1NM_000685.5(AGTR1):c.879del (p.Phe293fs)deletionRenal tubular dysgenesisAG2S|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
AGTR1NM_000685.5(AGTR1):c.110dup (p.Ile38fs)duplicationRenal tubular dysgenesisAG2S|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
CASRNM_000388.4(CASR):c.393C>G (p.Cys131Trp)single nucleotide variantHypocalcemia, autosomal dominant 1, with bartter syndromeCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2528C>A (p.Ala843Glu)single nucleotide variantHypocalcemia, autosomal dominant 1, with bartter syndromeCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.186-1G>Tsingle nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1942C>T (p.Arg648Ter)single nucleotide variantInborn genetic diseasesCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2641T>C (p.Phe881Leu)single nucleotide variantHypercalcemia, familial benign type 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del)deletionHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1846C>G (p.Leu616Val)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.141A>C (p.Lys47Asn)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.108del (p.Leu37fs)deletionFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.553C>T (p.Arg185Ter)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2656C>T (p.Arg886Trp)single nucleotide variantAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.346G>A (p.Ala116Thr)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2010_2011del (p.Glu671fs)deletionFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1589G>A (p.Trp530Ter)single nucleotide variantHypocalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1378-1G>Csingle nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.186-2A>Gsingle nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1759dup (p.Asp587fs)duplicationFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1557_1560del (p.Glu519fs)deletionFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2363T>G (p.Phe788Cys)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2459C>T (p.Ser820Phe)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1394G>A (p.Arg465Gln)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1810G>A (p.Glu604Lys)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs)indelNeonatal severe primary hyperparathyroidismCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.680G>T (p.Arg227Leu)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRCASR, ALU INS, CODON 877insertionNeonatal severe primary hyperparathyroidismCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.380A>C (p.Glu127Ala)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.554G>A (p.Arg185Gln)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.889G>A (p.Glu297Lys)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2383C>T (p.Arg795Trp)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.680G>A (p.Arg227Gln)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.413C>T (p.Thr138Met)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.428G>A (p.Gly143Glu)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.185G>T (p.Arg62Met)single nucleotide variantHypercalcemia, familial benign type 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1657G>A (p.Gly553Arg)single nucleotide variantHypercalcemia, familial benign type 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1745G>T (p.Cys582Phe)single nucleotide variantHypercalcemia, familial benign type 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.539T>G (p.Phe180Cys)single nucleotide variantHypercalcemia, familial benign type 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2180T>A (p.Leu727Gln)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.38T>C (p.Leu13Pro)single nucleotide variantHypercalcemia, familial benign type 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2030del (p.Cys677fs)deletionHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.280G>T (p.Gly94Ter)single nucleotide variantNeonatal severe primary hyperparathyroidismCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1525G>A (p.Gly509Arg)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.528del (p.Asn176fs)deletionHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1852del (p.Leu618fs)deletionFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2533_2545del (p.Ser845fs)deletionHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2429G>A (p.Ser810Asn)single nucleotide variantAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2531C>T (p.Ala844Val)single nucleotide variantInborn genetic diseasesCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1661T>C (p.Ile554Thr)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2516T>C (p.Ile839Thr)single nucleotide variantNeurodevelopmental disorderCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1525G>C (p.Gly509Arg)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2254del (p.Arg752fs)deletionFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2297_2298dup (p.Glu767fs)duplicationFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2415del (p.Lys805fs)deletionFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNC_000003.11:g.(?_121973037)_(122004038_?)deldeletionAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.91dup (p.Asp31fs)duplicationFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.209G>A (p.Trp70Ter)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1868del (p.Gly623fs)deletionFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1081C>T (p.Gln361Ter)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.547_548del (p.Phe183fs)deletionHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1773_1774del (p.Ser591_Asn592insTer)deletionFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.924_925dup (p.Gln309fs)duplicationFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1054del (p.Trp352fs)deletionFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1783del (p.His595fs)deletionFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2506G>T (p.Val836Leu)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.379G>A (p.Glu127Lys)single nucleotide variantAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2008G>C (p.Gly670Arg)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.386G>A (p.Cys129Tyr)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.493-2A>Csingle nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1802del (p.Lys601fs)deletionAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.961_962del (p.Ala321fs)deletionHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2148dup (p.Lys717fs)duplicationHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2043G>T (p.Gln681His)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1542T>G (p.Tyr514Ter)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.357_358del (p.Lys119fs)deletionFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.384C>G (p.Phe128Leu)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.112_113insC (p.Phe38fs)insertionFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1377+1G>Tsingle nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1672dup (p.Glu558fs)duplicationHypercalcemia, familial benign type 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.157T>C (p.Ser53Pro)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2156G>A (p.Trp719Ter)single nucleotide variantHypercalcemia, familial benign type 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.139A>G (p.Lys47Glu)single nucleotide variantFamilial hypocalciuric hypercalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1983C>A (p.Cys661Ter)single nucleotide variantAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1A>G (p.Met1Val)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.666del (p.Ile223fs)deletionAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.349C>T (p.Gln117Ter)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.653A>G (p.Tyr218Cys)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1898_1932dup (p.Ala645fs)duplicationFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1377+2T>Asingle nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRSingle alleleinsertionFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2008G>A (p.Gly670Arg)single nucleotide variantAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.452C>T (p.Thr151Met)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1676C>A (p.Pro559His)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2405A>G (p.Asn802Ser)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1744T>A (p.Cys582Ser)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.380A>G (p.Glu127Gly)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1685G>C (p.Cys562Ser)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser)indelFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1884del (p.Phe629fs)deletionFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1934C>A (p.Ala645Asp)single nucleotide variantFamilial hypoparathyroidismCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2014C>A (p.Pro672Thr)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2435T>C (p.Leu812Pro)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2489G>A (p.Gly830Asp)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNC_000003.12:g.(?_122282103)_(122285191_?)deldeletionFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2644A>T (p.Lys882Ter)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.73C>T (p.Arg25Ter)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.643G>C (p.Asp215His)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.974G>A (p.Gly325Glu)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.662C>T (p.Pro221Leu)single nucleotide variantAutosomal dominant hypocalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.662C>A (p.Pro221Gln)single nucleotide variantHypercalcemia, familial benign type 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.85A>G (p.Lys29Glu)single nucleotide variantHypocalcemia, autosomal dominant 1, with bartter syndromeCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2482A>C (p.Thr828Pro)single nucleotide variantAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2039G>A (p.Arg680His)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.427G>A (p.Gly143Arg)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.166G>T (p.Glu56Ter)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2417T>C (p.Phe806Ser)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.554del (p.Arg185fs)deletionFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1670G>A (p.Gly557Glu)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2362T>C (p.Phe788Leu)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.448_449dup (p.Thr151fs)microsatelliteFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.354C>A (p.Asn118Lys)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.503C>T (p.Ala168Val)single nucleotide variantFamilial hypocalciuric hypercalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.382T>C (p.Phe128Leu)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.571G>A (p.Glu191Lys)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2318T>G (p.Leu773Arg)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2009G>A (p.Gly670Glu)single nucleotide variantNeonatal severe primary hyperparathyroidismCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.115C>G (p.Pro39Ala)single nucleotide variantHypercalcemia, familial benign type 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1512_1515del (p.Phe505fs)deletionFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.166del (p.Glu56fs)deletionFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2657G>C (p.Arg886Pro)single nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.733C>T (p.Gln245Ter)single nucleotide variantFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu)indelAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1835T>C (p.Phe612Ser)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2393C>T (p.Pro798Leu)single nucleotide variantAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2038C>T (p.Arg680Cys)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1652G>A (p.Arg551Lys)single nucleotide variantAutosomal dominant hypocalcemia 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1972del (p.Leu658fs)deletionFamilial benign hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.2244delinsCC (p.Ser749fs)indelHypercalcemia, familial benign type 1CaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.384C>A (p.Phe128Leu)single nucleotide variantInborn genetic diseasesCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.679C>T (p.Arg227Ter)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.1609-2A>Gsingle nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.197G>A (p.Arg66His)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs)indelHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del)deletionFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.532A>G (p.Asn178Asp)single nucleotide variantHYPOCALCEMIA, FAMILIALCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CASRNM_000388.4(CASR):c.493-2A>Gsingle nucleotide variantFamilial hypocalciuric hypercalcemiaCaR|GPRC2A|extracellular calcium-sensing receptor|divalent cation-sensing receptor|calcium-sensing receptor
CXCR2NM_001557.4(CXCR2):c.623G>A (p.Arg208Gln)single nucleotide variantWHIM syndrome 2IL8RB|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
CXCR2NM_001557.4(CXCR2):c.968del (p.His323fs)deletionWHIM syndrome 2IL8RB|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
CXCR4NM_003467.3(CXCR4):c.994G>T (p.Gly332Ter)single nucleotide variantWHIM syndromefusin|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
CXCR4NM_003467.3(CXCR4):c.1025_1028del (p.Thr342fs)deletionWarts, hypogammaglobulinemia, infections, and myelokathexisfusin|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
CXCR4NM_003467.3(CXCR4):c.1006G>T (p.Gly336Ter)single nucleotide variantWHIM syndromefusin|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
CXCR4NM_003467.3(CXCR4):c.893_1034dup (p.Glu345_Ser346insProHisProLeuCysPheProTrpSerGlnIleTer)duplicationWHIM syndromefusin|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
CXCR4NM_003467.3(CXCR4):c.950_953del (p.Leu317fs)deletionInherited Immunodeficiency Diseasesfusin|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
CXCR4NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter)single nucleotide variantWARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 1fusin|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
CXCR4NM_003467.3(CXCR4):c.1027G>T (p.Glu343Ter)single nucleotide variantWARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 1fusin|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
CXCR4NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs)deletionWHIM syndrome 1fusin|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
CXCR4NM_003467.3(CXCR4):c.959_960del (p.Val320fs)microsatelliteWarts, hypogammaglobulinemia, infections, and myelokathexisfusin|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
CXCR4NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)single nucleotide variantWHIM syndrome 1fusin|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
CXCR4NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter)single nucleotide variantWARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 1fusin|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
ACKR3NM_020311.3(ACKR3):c.772G>A (p.Val258Met)single nucleotide variantOculomotor-abducens synkinesischemokine (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
GPR68NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)single nucleotide variantAmelogenesis imperfecta, hypomaturation type, IIa6GPR12A|Ovarian cancer G-protein coupled receptor 1|sphingosylphosphorylcholine receptor|OGR1
GPR68NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del)deletionAmelogenesis imperfecta, hypomaturation type, IIa6GPR12A|Ovarian cancer G-protein coupled receptor 1|sphingosylphosphorylcholine receptor|OGR1
GPR68NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)deletionAmelogenesis imperfecta, hypomaturation type, IIa6GPR12A|Ovarian cancer G-protein coupled receptor 1|sphingosylphosphorylcholine receptor|OGR1
GPR68NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs)indelAmelogenesis imperfectaGPR12A|Ovarian cancer G-protein coupled receptor 1|sphingosylphosphorylcholine receptor|OGR1
GPR88NM_022049.3(GPR88):c.873C>A (p.Cys291Ter)single nucleotide variantChorea, childhood-onset, with psychomotor retardationSTRG|striatum-specific G-protein coupled receptor
GPR153NM_207370.4(GPR153):c.217C>T (p.Arg73Cys)single nucleotide variantChildhood-Onset SchizophreniaPGR1
LGR4NM_018490.5(LGR4):c.286A>G (p.Ile96Val)single nucleotide variantDELAYED PUBERTY, SELF-LIMITEDGPR48|leucine-rich repeat-containing G protein-coupled receptor 4|leucine-rich repeat containing G protein-coupled receptor 4
LGR4NM_018490.5(LGR4):c.2531A>G (p.Asp844Gly)single nucleotide variantDELAYED PUBERTY, SELF-LIMITEDGPR48|leucine-rich repeat-containing G protein-coupled receptor 4|leucine-rich repeat containing G protein-coupled receptor 4
LGR4NM_018490.5(LGR4):c.1087G>T (p.Gly363Cys)single nucleotide variantDELAYED PUBERTY, SELF-LIMITEDGPR48|leucine-rich repeat-containing G protein-coupled receptor 4|leucine-rich repeat containing G protein-coupled receptor 4
LPAR6LPAR6, 4-BP INS, 69CATGinsertionAutosomal recessive woolly hair 1, with or without hypotrichosisP2RY5|LPA receptor 6|oleoyl-L-alpha-lysophosphatidic acid receptor|P2Y purinoceptor 5|purinergic receptor 5
LPAR6LPAR6, 2-BP DEL, 373AAdeletionWoolly hair, autosomal recessive 1P2RY5|LPA receptor 6|oleoyl-L-alpha-lysophosphatidic acid receptor|P2Y purinoceptor 5|purinergic receptor 5
P2RY8NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg)single nucleotide variantMultiple myelomaG-protein coupled purinergic receptor P2Y8|P2Y purinoceptor 8|purinergic receptor P2Y8
ADGRB2NM_001364857.2(ADGRB2):c.4393C>T (p.Arg1465Trp)single nucleotide variantProgressive spastic paraparesisBAI2|brain-specific angiogenesis inhibitor 2
ADGRB3NM_001704.3(ADGRB3):c.4298G>A (p.Arg1433Lys)single nucleotide variantShort statureBAI3|brain-specific angiogenesis inhibitor 3
ADGRB3NM_001704.3(ADGRB3):c.2294T>C (p.Val765Ala)single nucleotide variantShort statureBAI3|brain-specific angiogenesis inhibitor 3
CELSR1NM_001378328.1(CELSR1):c.2042del (p.Asn681fs)deletionLymphatic malformationcrash|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter)single nucleotide variantLymphatic malformationcrash|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1NM_001378328.1(CELSR1):c.6739+1G>Asingle nucleotide variantLymphatic malformationcrash|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1NM_001378328.1(CELSR1):c.5226+2T>Asingle nucleotide variantLymphatic malformationcrash|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1NM_001378328.1(CELSR1):c.5702-1G>Csingle nucleotide variantLymphatic malformationcrash|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1NM_001378328.1(CELSR1):c.5121dup (p.Ile1708fs)duplicationLymphatic malformation 9crash|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1NM_001378328.1(CELSR1):c.5871G>A (p.Trp1957Ter)single nucleotide variantLymphatic malformation 9crash|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR2NM_001408.3(CELSR2):c.8235_8246dup (p.Glu2749_Glu2752dup)duplicationOFDS IIIADGRC2 (adhesion G protein-coupled receptor C2)|MEGF3|multiple epidermal growth factor-like domains 3
CELSR2NM_001408.3(CELSR2):c.3830C>T (p.Pro1277Leu)single nucleotide variantGlobal developmental delayADGRC2 (adhesion G protein-coupled receptor C2)|MEGF3|multiple epidermal growth factor-like domains 3
CELSR2NM_001408.3(CELSR2):c.2858A>G (p.Asn953Ser)single nucleotide variantTracheoesophageal fistulaADGRC2 (adhesion G protein-coupled receptor C2)|MEGF3|multiple epidermal growth factor-like domains 3
ADGRE2NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr)single nucleotide variantVibratory urticariaEMR2 (EGF-like module-containing, mucin-like, hormone receptor-like 2)|CD312 (cluster of differentiation 312)
ADGRG1NM_201525.4(ADGRG1):c.1167+3G>Csingle nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser)single nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.1352A>G (p.Asp451Gly)single nucleotide variantInborn genetic diseasesBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe)single nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp)single nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.620+1G>Asingle nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter)single nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser)single nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter)single nucleotide variantPolymicrogyria, bilateral perisylvian, autosomal recessiveBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs)duplicationGlobal developmental delayBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.621-1G>Csingle nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter)single nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr)single nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser)single nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp)single nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.263A>G (p.Tyr88Cys)single nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.1141C>T (p.His381Tyr)single nucleotide variantCEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECTBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.-36+10587_-36+10601delmicrosatellitePolymicrogyria, bilateral perisylvian, autosomal recessiveBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro)single nucleotide variantCEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECTBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG1NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter)single nucleotide variantBilateral frontoparietal polymicrogyriaBFPP|GPR56 (G-protein coupled receptor 56)|Cyt28
ADGRG2NM_001079858.3(ADGRG2):c.2845del (p.Cys949fs)deletionCongenital bilateral aplasia of vas deferens from CFTR mutationGPR64 (G protein-coupled receptor 64)|HE6 (human epididymal 6)
ADGRG2NM_001079858.3(ADGRG2):c.1013del (p.Pro338fs)deletionCongenital bilateral aplasia of vas deferens from CFTR mutationGPR64 (G protein-coupled receptor 64)|HE6 (human epididymal 6)
ADGRG2NM_001079858.3(ADGRG2):c.2096dup (p.Phe700fs)duplicationCongenital bilateral aplasia of vas deferens from CFTR mutationGPR64 (G protein-coupled receptor 64)|HE6 (human epididymal 6)
ADGRG2NM_001079858.3(ADGRG2):c.1460del (p.Gly487fs)deletionCongenital bilateral aplasia of vas deferens from CFTR mutationGPR64 (G protein-coupled receptor 64)|HE6 (human epididymal 6)
ADGRG2NM_001079858.3(ADGRG2):c.2002_2006delinsAGA (p.Leu668fs)indelCongenital bilateral aplasia of vas deferens from CFTR mutationGPR64 (G protein-coupled receptor 64)|HE6 (human epididymal 6)
ADGRG2NM_001079858.3(ADGRG2):c.251C>G (p.Ser84Ter)single nucleotide variantCongenital bilateral aplasia of vas deferens from CFTR mutationGPR64 (G protein-coupled receptor 64)|HE6 (human epididymal 6)
ADGRG2NM_001079858.3(ADGRG2):c.1545dup (p.Glu516Ter)duplicationCongenital bilateral aplasia of vas deferens from CFTR mutationGPR64 (G protein-coupled receptor 64)|HE6 (human epididymal 6)
ADGRG2NM_001079858.3(ADGRG2):c.1731_1839+373deldeletionCongenital bilateral aplasia of vas deferens from CFTR mutationGPR64 (G protein-coupled receptor 64)|HE6 (human epididymal 6)
ADGRG2NM_001079858.3(ADGRG2):c.2473C>T (p.Arg825Ter)single nucleotide variantCongenital bilateral aplasia of vas deferens from CFTR mutationGPR64 (G protein-coupled receptor 64)|HE6 (human epididymal 6)
ADGRG2NM_001079858.3(ADGRG2):c.2033_2035delinsACTCGTGGATTGCTCTG (p.Val678fs)indelObstructive azoospermiaGPR64 (G protein-coupled receptor 64)|HE6 (human epididymal 6)
ADGRV1NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter)single nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)single nucleotide variantUsher's syndromeFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.11253C>G (p.Tyr3751Ter)single nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410dup)duplicationRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.17195C>T (p.Pro5732Leu)single nucleotide variantIdiopathic generalized epilepsyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter)single nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NC_000005.9:g.(90150019_90151557)_(90151719_90159573)deldeletionUsher SyndromesFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)single nucleotide variantUsher SyndromesFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.7406G>A (p.Trp2469Ter)single nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)single nucleotide variantUsher Syndrome, Type IIFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.7374_7375del (p.Glu2459fs)deletionRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser)single nucleotide variantIdiopathic generalized epilepsyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter)single nucleotide variantUSHER SYNDROME, TYPE IICFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.12829C>T (p.Arg4277Ter)single nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.2870dup (p.Asn957fs)duplicationRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)single nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NC_000005.9:g.(89988604_89989706)_(90074915_90077246)deldeletionUsher SyndromesFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu)single nucleotide variantAutosomal recessive sensorineural hearing lossFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs)duplicationUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.8495C>A (p.Ser2832Ter)single nucleotide variantFebrile seizures, familial, 4FEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.8737del (p.Val2913fs)deletionRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs)deletionRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)single nucleotide variantRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter)single nucleotide variantUsher syndrome type 2CFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter)single nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.9748+2T>Csingle nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.12511G>T (p.Gly4171Cys)single nucleotide variantADGRV1-related myoclonic epilepsyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)duplicationUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)single nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)deletionUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.17974-1G>Csingle nucleotide variantUsher syndrome type 2FEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)single nucleotide variantUsher syndrome type 2FEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.8620C>T (p.Gln2874Ter)single nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NC_000005.10:g.(?_90614729)_(90784051_?)deldeletionRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.1180del (p.Ser394fs)deletionRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.4379-1G>Asingle nucleotide variantTapetoretinal degenerationFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.17195del (p.Pro5732fs)deletionTapetoretinal degenerationFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter)single nucleotide variantUsher syndromeFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)single nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.16197-1G>Tsingle nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter)single nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.17662del (p.Ser5888fs)deletionRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter)single nucleotide variantUsher syndrome type 2CFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)single nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.14973-2A>Gsingle nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)single nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs)deletionUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NC_000005.10:g.(90694702_90696936)_(90829187_90840577)deldeletionUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs)deletionUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.12403+1G>Tsingle nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser)single nucleotide variantIdiopathic generalized epilepsyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)single nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.4752+2T>Gsingle nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter)single nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter)single nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.17137del (p.Ala5713fs)deletionUsher syndrome, type IIC, GPR98/PDZD7 digenicFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.13232-1G>Asingle nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.11122-1G>Csingle nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)single nucleotide variantUSHER SYNDROME, TYPE IICFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter)single nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs)deletionUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.9749-2deldeletionCONVULSIONS, FAMILIAL FEBRILE, 4FEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs)deletionUsher syndrome type 2CFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.11484_11487del (p.Asn3828fs)deletionRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.14972+1G>Tsingle nucleotide variantUsher syndrome type 2CFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.12125del (p.Met4042fs)deletionUsher syndrome type 2FEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del (p.(?))deletionRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs)duplicationUSHER SYNDROME, TYPE IIAFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=)single nucleotide variantUSHER SYNDROME, TYPE IIAFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer)microsatelliteUSHER SYNDROME, TYPE IIAFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs)deletionUSHER SYNDROME, TYPE IIAFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.16368G>C (p.Lys5456Asn)single nucleotide variantHearing impairmentFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.2680del (p.Ser894fs)deletionUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs)deletionUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs)deletionUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)deldeletionRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.5643del (p.Tyr1882fs)deletionRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)duplicationRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.9906+1G>Asingle nucleotide variantRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.10940del (p.Asn3647fs)deletionRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter)single nucleotide variantRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs)deletionUsher syndrome type 2FEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.10060_10063del (p.Thr3354fs)microsatelliteRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.9907-1G>Asingle nucleotide variantRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter)single nucleotide variantRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.2241-2A>Gsingle nucleotide variantUsher syndrome type 2FEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.16940del (p.Val5647fs)deletionRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs)duplicationUsher syndrome type 2FEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.1239-8C>Gsingle nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter)single nucleotide variantRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)deletionRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)single nucleotide variantUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter)single nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs)duplicationUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)single nucleotide variantUsher syndrome, type I, French varietyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.12101T>G (p.Phe4034Cys)single nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter)single nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter)single nucleotide variantRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)single nucleotide variantUsher's syndromeFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.1701del (p.Leu568fs)deletionRare genetic deafnessFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.3:c.16079-1455_c.16196+155deldeletionUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.8790del (p.Met2931fs)deletionUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.5504_5507del (p.Leu1835fs)microsatelliteRetinal dystrophyFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRV1NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)deletionUsher syndrome, type 2BFEB4|MASS1|USH2C|VLGR1|very large G protein-coupled receptor 1|GPR98 (G protein-coupled receptor 98)
ADGRG6NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)single nucleotide variantLethal congenital contracture syndrome 9GPR126 (G protein-coupled receptor 126)|developmentally regulated GPCR|vascular inducible GPCR
ADGRG6NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)single nucleotide variantLethal congenital contracture syndrome 9GPR126 (G protein-coupled receptor 126)|developmentally regulated GPCR|vascular inducible GPCR
ADGRG6NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter)single nucleotide variantLethal congenital contracture syndrome 9GPR126 (G protein-coupled receptor 126)|developmentally regulated GPCR|vascular inducible GPCR
ADGRG6NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs)duplicationLethal congenital contracture syndrome 9GPR126 (G protein-coupled receptor 126)|developmentally regulated GPCR|vascular inducible GPCR
GPR143NM_000273.3(GPR143):c.767+1G>Asingle nucleotide variantOcular albinism type 1MOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.346T>G (p.Cys116Gly)single nucleotide variantOcular albinism type 1MOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.456-5_463deldeletionOcular albinism, type IMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.548+2T>Csingle nucleotide variantOcular albinism type 1MOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.360+2T>Csingle nucleotide variantOcular albinism type 1MOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.361-2A>Csingle nucleotide variantOcular albinism type 1MOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.548+2T>Asingle nucleotide variantOcular albinism, type IMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NC_000023.9:g.9688757-?_9693917+?deldeletionOcular albinism type 1MOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.397T>A (p.Trp133Arg)single nucleotide variantOcular albinism, type IMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.104G>A (p.Gly35Asp)single nucleotide variantOcular albinism, type IMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143GPR143, 37-BP DELdeletionNystagmus 6, congenital, X-linkedMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.768-1G>Asingle nucleotide variantInborn genetic diseasesMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143GPR143, 2-BP INS, NT992insertionOcular albinism, type IMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.779A>G (p.Asn260Ser)single nucleotide variantAlbinismMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.12_36del (p.Leu6fs)deletionNystagmusMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143GPR143, 19-BP DUPduplicationNystagmus 6, congenital, X-linkedMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143GPR143, 14-BP DEL, NT816deletionOcular albinism, type IMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.266C>T (p.Ser89Phe)single nucleotide variantNystagmus 6, congenital, X-linkedMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.874T>G (p.Trp292Gly)single nucleotide variantAlbinismMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.695C>A (p.Thr232Lys)single nucleotide variantOcular albinism, type IMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.397T>C (p.Trp133Arg)single nucleotide variantOcular albinism, type IMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143GPR143, 17-BP DELdeletionOcular albinism, type IMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.223dup (p.Ala75fs)duplicationNettleship-Falls type ocular albinismMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR143NM_000273.3(GPR143):c.731del (p.Ile244fs)deletionNystagmus 6, congenital, X-linkedMOA1|ocular albinism 1 (Nettleship-Falls)|NYS6|Ocular albinism type 1 protein
GPR179NM_001004334.4(GPR179):c.1784+1G>Asingle nucleotide variantCongenital stationary night blindness 1EGPR158-like 1
GPR179NM_001004334.4(GPR179):c.799_803delinsTGATCTAC (p.Gln267_Val268delinsTer)indelCongenital stationary night blindnessGPR158-like 1
GPR179NM_001004334.4(GPR179):c.187del (p.Leu63fs)deletionCongenital stationary night blindness 1EGPR158-like 1
GPR179NM_001004334.4(GPR179):c.481C>T (p.Gln161Ter)single nucleotide variantCongenital stationary night blindness 1EGPR158-like 1
GPR179NM_001004334.4(GPR179):c.278del (p.Pro93fs)deletionCongenital stationary night blindness 1EGPR158-like 1
GPR179NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs)duplicationCongenital stationary night blindnessGPR158-like 1
GPR179NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)single nucleotide variantCongenital stationary night blindness 1EGPR158-like 1
GPR179NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs)duplicationNight blindness, congenital stationary (complete), 1E, autosomal recessiveGPR158-like 1
GPR179NM_001004334.4(GPR179):c.148C>T (p.Gln50Ter)single nucleotide variantCongenital stationary night blindness 1EGPR158-like 1
EDNRANM_001957.4(EDNRA):c.386A>T (p.Tyr129Phe)single nucleotide variantMandibulofacial dysostosis with alopeciaENDOR|endothelin A receptor|endothelin-1 receptor|ET-AR|Gpcr10
EDNRANM_001957.4(EDNRA):c.907G>A (p.Glu303Lys)single nucleotide variantMandibulofacial dysostosis with alopeciaENDOR|endothelin A receptor|endothelin-1 receptor|ET-AR|Gpcr10
EDNRBNM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)single nucleotide variantWAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4AHSCR|HSCR2|endothelin B receptor|ET-BR
FZD2NM_001466.4(FZD2):c.367_388dup (p.Phe130fs)duplicationCovesdem syndrome (formerly)Fz2|Frizzled-2|Drosophila polarity gene homolog 2|frizzled family receptor 2|Fzd10|Fz10
FZD2NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser)single nucleotide variantAutosomal dominant Robinow syndrome 2Fz2|Frizzled-2|Drosophila polarity gene homolog 2|frizzled family receptor 2|Fzd10|Fz10
FZD2NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)single nucleotide variantCovesdem syndrome (formerly)Fz2|Frizzled-2|Drosophila polarity gene homolog 2|frizzled family receptor 2|Fzd10|Fz10
FZD2NM_001466.4(FZD2):c.1403T>G (p.Leu468Arg)single nucleotide variantShort statureFz2|Frizzled-2|Drosophila polarity gene homolog 2|frizzled family receptor 2|Fzd10|Fz10
FZD2NM_001466.4(FZD2):c.1301G>T (p.Gly434Val)single nucleotide variantAutosomal dominant Robinow syndrome 3Fz2|Frizzled-2|Drosophila polarity gene homolog 2|frizzled family receptor 2|Fzd10|Fz10
FZD2NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val)indelAutosomal dominant Robinow syndrome 2Fz2|Frizzled-2|Drosophila polarity gene homolog 2|frizzled family receptor 2|Fzd10|Fz10
FZD2NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter)single nucleotide variantAutosomal dominant Robinow syndrome 2Fz2|Frizzled-2|Drosophila polarity gene homolog 2|frizzled family receptor 2|Fzd10|Fz10
FZD3NM_017412.4(FZD3):c.888del (p.Phe296fs)deletionColorectal cancerFz3|frizzled 3|frizzled family receptor 3|frizzled homolog 3
FZD3NM_017412.4(FZD3):c.1616dup (p.Asp539fs)duplicationHydrocephalusFz3|frizzled 3|frizzled family receptor 3|frizzled homolog 3
FZD4NM_012193.4(FZD4):c.40_49del (p.Pro14fs)microsatelliteExudative vitreoretinopathyFz4|CD344|EVR1|exudative vitreoretinopathy 1|frizzled family receptor 4|frizzled receptor 4
FZD5NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn)insertionCOLOBOMA OF IRIS, CHOROID, AND RETINAfrizzled family receptor 5|Fz5
FZD5NM_003468.4(FZD5):c.820del (p.Leu274fs)deletionCOLOBOMA OF IRIS, CHOROID, AND RETINAfrizzled family receptor 5|Fz5
FZD5NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del)deletionCOLOBOMA OF IRIS, CHOROID, AND RETINAfrizzled family receptor 5|Fz5
FZD6NM_003506.4(FZD6):c.346C>T (p.Arg116Ter)single nucleotide variantWilms' tumorFz6|frizzled family receptor 6
FZD6NM_003506.4(FZD6):c.1525C>T (p.Arg509Ter)single nucleotide variantOnychodystrophy totalis, isolatedFz6|frizzled family receptor 6
FZD6NM_003506.4(FZD6):c.1312G>A (p.Glu438Lys)single nucleotide variantOnychodystrophy totalis, isolatedFz6|frizzled family receptor 6
FZD6NM_003506.4(FZD6):c.1393-2A>Gsingle nucleotide variantOnychodystrophy totalis, isolatedFz6|frizzled family receptor 6
SMONM_005631.5(SMO):c.1198C>T (p.Arg400Cys)single nucleotide variantHypothalamic hamartomaSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
SMONM_005631.5(SMO):c.754T>C (p.Phe252Leu)single nucleotide variantHypothalamic hamartomaSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
SMONM_005631.5(SMO):c.781C>T (p.Arg261Cys)single nucleotide variantHamartoma of hypothalamusSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
SMONM_005631.5(SMO):c.1417G>C (p.Asp473His)single nucleotide variantBasal cell carcinomaSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
SMONM_005631.5(SMO):c.1604G>T (p.Trp535Leu)single nucleotide variantBasal cell carcinoma, somaticSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
SMONM_005631.5(SMO):c.1285A>T (p.Ile429Phe)single nucleotide variantHamartoma of hypothalamusSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
SMONM_005631.5(SMO):c.1726C>T (p.Arg576Trp)single nucleotide variantHamartoma of hypothalamusSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
SMONM_005631.5(SMO):c.1727G>A (p.Arg576Gln)single nucleotide variantHamartoma of hypothalamusSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
SMONM_005631.5(SMO):c.1685G>A (p.Arg562Gln)single nucleotide variantBasal cell carcinoma, somaticSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
SMONM_005631.5(SMO):c.1234C>T (p.Leu412Phe)single nucleotide variantCraniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut developmentSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
SMONM_005631.5(SMO):c.2291_2292del (p.Gln764fs)deletionHamartoma of hypothalamusSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
SMONM_005631.5(SMO):c.1339G>T (p.Glu447Ter)single nucleotide variantHamartoma of hypothalamusSMOH|FZD11|frizzled family member 11|bnb|smoothened, frizzled class receptor|smoothened
GABBR2NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)single nucleotide variantInborn genetic diseasesGABABR2|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
GABBR2NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp)single nucleotide variantDevelopmental and epileptic encephalopathy, 59GABABR2|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
GABBR2NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile)single nucleotide variantDevelopmental and epileptic encephalopathy, 59GABABR2|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
GABBR2NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn)single nucleotide variantDevelopmental and epileptic encephalopathy, 59GABABR2|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
GABBR2NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr)single nucleotide variantDevelopmental and epileptic encephalopathy, 59GABABR2|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
GABBR2NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile)single nucleotide variantIntellectual functioning disabilityGABABR2|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
GABBR2NM_005458.8(GABBR2):c.1700C>T (p.Ala567Val)single nucleotide variantEpileptic encephalopathyGABABR2|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
GHSRNM_198407.2(GHSR):c.611C>A (p.Ala204Glu)single nucleotide variantShort stature due to growth hormone secretagogue receptor deficiencygrowth hormone-releasing peptide receptor|GH-releasing peptide receptor|GHS-R|ghrelin receptor 1a
GHSRNM_198407.2(GHSR):c.6G>A (p.Trp2Ter)single nucleotide variantShort stature due to growth hormone secretagogue receptor deficiencygrowth hormone-releasing peptide receptor|GH-releasing peptide receptor|GHS-R|ghrelin receptor 1a
GHRHRNG_021416.1:g.4925A>Csingle nucleotide variantIsolated growth hormone deficiency, type 4GRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNM_000823.4(GHRHR):c.431T>A (p.Leu144His)single nucleotide variantIsolated growth hormone deficiency, type 4GRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNM_000823.4(GHRHR):c.418T>C (p.Ser140Pro)single nucleotide variantIGHD IBGRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNM_000823.4(GHRHR):c.725T>G (p.Phe242Cys)single nucleotide variantIsolated growth hormone deficiency, type 4GRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNM_000823.4(GHRHR):c.985A>G (p.Lys329Glu)single nucleotide variantIsolated growth hormone deficiency, type 4GRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNC_000007.14:g.31008681G>Tsingle nucleotide variantIGHD IBGRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNM_000823.4(GHRHR):c.665C>A (p.Ala222Glu)single nucleotide variantIsolated growth hormone deficiency, type 4GRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRSingle alleleindelIGHD IBGRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNM_000823.4(GHRHR):c.495C>A (p.His165Gln)single nucleotide variantIGHD IBGRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNM_000823.4(GHRHR):c.731G>A (p.Trp244Ter)single nucleotide variantISOLATED GROWTH HORMONE DEFICIENCY, TYPE IVGRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNM_000823.4(GHRHR):c.967C>T (p.Gln323Ter)single nucleotide variantISOLATED GROWTH HORMONE DEFICIENCY, TYPE IVGRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys)single nucleotide variantISOLATED GROWTH HORMONE DEFICIENCY, TYPE IVGRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNM_000823.4(GHRHR):c.57+1G>Asingle nucleotide variantIsolated growth hormone deficiency, type 4GRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GHRHRNM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)single nucleotide variantIGHD IBGRF receptor|GRFR|growth hormone-releasing factor receptor|Ghrfr
GCGRGCGR, ARG8TERvariationGCGR-related hyperglucagonemiaGGR|GL-R|GR
GCGRGCGR, 1-BP INS, EX4insertionGCGR-related hyperglucagonemiaGGR|GL-R|GR
GCGRGCGR, GLN327TERvariationGCGR-related hyperglucagonemiaGGR|GL-R|GR
GCGRNM_000160.5(GCGR):c.879-1G>Asingle nucleotide variantGCGR-related hyperglucagonemiaGGR|GL-R|GR
GCGRNM_000160.5(GCGR):c.187G>A (p.Asp63Asn)single nucleotide variantGCGR-related hyperglucagonemiaGGR|GL-R|GR
GCGRNM_000160.5(GCGR):c.256C>T (p.Pro86Ser)single nucleotide variantGCGR-related hyperglucagonemiaGGR|GL-R|GR
FSHRNM_000145.4(FSHR):c.662T>G (p.Val221Gly)single nucleotide variantOVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVEFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1760C>A (p.Pro587His)single nucleotide variantGonadal dysgenesis, XX typeFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.374T>G (p.Leu125Arg)single nucleotide variantGenetic non-acquired premature ovarian failureFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1801C>G (p.Leu601Val)single nucleotide variantOVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVEFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.566C>T (p.Ala189Val)single nucleotide variantOvarian dysgenesis 1Follitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.2T>C (p.Met1Thr)single nucleotide variantAmenorrheaFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1345A>G (p.Thr449Ala)single nucleotide variantOvarian hyperstimulation syndromeFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1679_1685del (p.Asn560fs)deletionGenetic non-acquired premature ovarian failureFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.683C>T (p.Thr228Ile)single nucleotide variantGenetic non-acquired premature ovarian failureFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1763T>C (p.Ile588Thr)single nucleotide variantGenetic non-acquired premature ovarian failureFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.884C>T (p.Ser295Phe)single nucleotide variantGenetic non-acquired premature ovarian failureFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1396G>A (p.Glu466Lys)single nucleotide variantGenetic non-acquired premature ovarian failureFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1862C>T (p.Ala621Val)single nucleotide variantOvarian dysgenesis 1Follitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1384G>C (p.Ala462Pro)single nucleotide variantOvarian dysgenesis 1Follitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.349C>T (p.Gln117Ter)single nucleotide variantGenetic non-acquired premature ovarian failureFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1717C>T (p.Arg573Cys)single nucleotide variantOvarian dysgenesis 1Follitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.671A>T (p.Asp224Val)single nucleotide variantOVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVEFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1346C>T (p.Thr449Ile)single nucleotide variantOvarian hyperstimulation syndromeFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1699G>A (p.Asp567Asn)single nucleotide variantOvarian hyperstimulation syndromeFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1555C>A (p.Pro519Thr)single nucleotide variantOvarian dysgenesis 1Follitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1634T>C (p.Ile545Thr)single nucleotide variantOvarian hyperstimulation syndromeFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1255G>A (p.Ala419Thr)single nucleotide variantOvarian dysgenesis 1Follitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1043C>G (p.Pro348Arg)single nucleotide variantOVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVEFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.1724C>T (p.Ala575Val)single nucleotide variantOVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVEFollitropin receptor|LGR1|FSH-R
FSHRNM_000145.4(FSHR):c.383C>A (p.Ser128Tyr)single nucleotide variantOvarian hyperstimulation syndromeFollitropin receptor|LGR1|FSH-R
LHCGRLHCGR, 33-BP INS, NT54insertionLeydig cell agenesisChoriogonadotropin receptor|LCGR|LGR2|LHR|lutropin-choriogonadotropic hormone receptor|LH-R
LHCGRLHCGR, EX10DELdeletionLeydig cell hypoplasia, partialChoriogonadotropin receptor|LCGR|LGR2|LHR|lutropin-choriogonadotropic hormone receptor|LH-R
LHCGRLHCGR, LEU-GLN INS, CODON 19-20insertionLuteinizing hormone/choriogonadotropin receptor, lq variantChoriogonadotropin receptor|LCGR|LGR2|LHR|lutropin-choriogonadotropic hormone receptor|LH-R
LHCGRLHCGR, 6-BP DEL, NT1822deletionLuteinizing hormone resistance, femaleChoriogonadotropin receptor|LCGR|LGR2|LHR|lutropin-choriogonadotropic hormone receptor|LH-R
TSHRTSHR, 18-BP DEL, 4-BP INSindelHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.970C>T (p.Gln324Ter)single nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.326G>A (p.Arg109Gln)single nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1228G>A (p.Asp410Asn)single nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1575C>A (p.Phe525Leu)single nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1170T>G (p.Cys390Trp)single nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1430C>T (p.Thr477Ile)single nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1960A>T (p.Ile654Phe)single nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.548A>G (p.Lys183Arg)single nucleotide variantFamilial gestational hyperthyroidismThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.842G>A (p.Ser281Asn)single nucleotide variantHyperthyroidism, nonautoimmuneThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1887G>T (p.Leu629Phe)single nucleotide variantHyperthyroidism, nonautoimmuneThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1514G>A (p.Ser505Asn)single nucleotide variantHyperthyroidism, nonautoimmuneThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.2015G>A (p.Cys672Tyr)single nucleotide variantHyperthyroidism, nonautoimmuneThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1526T>C (p.Val509Ala)single nucleotide variantHyperthyroidism, nonautoimmuneThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1915C>T (p.Pro639Ser)single nucleotide variantHyperthyroidism, nonautoimmuneThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1897G>C (p.Asp633His)single nucleotide variantTHYROID CARCINOMA WITH THYROTOXICOSIS, SOMATICThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1291G>A (p.Gly431Ser)single nucleotide variantHyperthyroidism, nonautoimmuneThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1891T>C (p.Phe631Leu)single nucleotide variantThyroid adenoma, hyperfunctioning, somaticThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1867_1868delinsAT (p.Ala623Ile)indelThyroid adenoma, hyperfunctioning, somaticThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1856A>G (p.Asp619Gly)single nucleotide variantThyroid adenoma, hyperfunctioning, somaticThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.928C>T (p.Arg310Cys)single nucleotide variantnot specifiedThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1358T>C (p.Met453Thr)single nucleotide variantHyperthyroidism, nonautoimmuneThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1798T>C (p.Cys600Arg)single nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRTSHR, 2-BP DEL, 654ACdeletionHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.545+3G>Csingle nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.545+2_545+3delmicrosatelliteHypothyroidism, congenital, nongoitrous, 1Thyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1400T>C (p.Leu467Pro)single nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.545+5G>Tsingle nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.842G>T (p.Ser281Ile)single nucleotide variantThyroid adenoma, hyperfunctioning, somaticThyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.1777del (p.Ala593fs)deletionHypothyroidism, congenital, nongoitrous, 1Thyrotropin Receptor|LGR3|TSH-R
TSHRNM_000369.5(TSHR):c.500T>A (p.Ile167Asn)single nucleotide variantHypothyroidism due to TSH receptor mutationsThyrotropin Receptor|LGR3|TSH-R
GNRHRNM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)single nucleotide variantIsolated GnRH Deficiencyluteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.842C>T (p.Thr281Ile)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.651C>A (p.Ser217Arg)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.350T>G (p.Leu117Arg)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.941T>A (p.Leu314Ter)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.415C>T (p.Arg139Cys)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.31C>A (p.Gln11Lys)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.94A>G (p.Thr32Ala)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.416G>A (p.Arg139His)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.511G>A (p.Ala171Thr)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)single nucleotide variantIsolated congenital hypogonadotropic hypogonadismluteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.523-1G>Asingle nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.392T>C (p.Met131Thr)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.959C>T (p.Pro320Leu)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.386C>A (p.Ala129Asp)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
GNRHRNM_000406.3(GNRHR):c.806C>T (p.Thr269Met)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmialuteinizing hormone-releasing hormone (LHRH) receptor|GNRHR1|LHRH receptor|Type I GnRHR|gnRH receptor|GnRH-R|GnRH I receptor|GnRHR|luliberin receptor|LHRHR
KISS1RNM_032551.5(KISS1R):c.443T>C (p.Leu148Ser)single nucleotide variantHypogonadotropic hypogonadism 8 without anosmiaGPR54|Metastin receptor|hOT7T175|kiSS-1 receptor|kiSS-1R|KiSS1-derived peptide receptor
KISS1RNM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg)single nucleotide variantHypogonadotropic hypogonadism 8 without anosmiaGPR54|Metastin receptor|hOT7T175|kiSS-1 receptor|kiSS-1R|KiSS1-derived peptide receptor
KISS1RNM_032551.5(KISS1R):c.969C>A (p.Tyr323Ter)single nucleotide variantAbnormality of the genitourinary systemGPR54|Metastin receptor|hOT7T175|kiSS-1 receptor|kiSS-1R|KiSS1-derived peptide receptor
KISS1RNM_032551.5(KISS1R):c.710G>C (p.Arg237Pro)single nucleotide variantPituitary stalk interruption syndromeGPR54|Metastin receptor|hOT7T175|kiSS-1 receptor|kiSS-1R|KiSS1-derived peptide receptor
KISS1RNM_032551.5(KISS1R):c.937T>C (p.Tyr313His)single nucleotide variantHypogonadotropic hypogonadism 8 without anosmiaGPR54|Metastin receptor|hOT7T175|kiSS-1 receptor|kiSS-1R|KiSS1-derived peptide receptor
KISS1RKISS1R, 155-BP DELdeletionHypogonadotropic hypogonadism 8 without anosmiaGPR54|Metastin receptor|hOT7T175|kiSS-1 receptor|kiSS-1R|KiSS1-derived peptide receptor
KISS1RNM_032551.5(KISS1R):c.991C>T (p.Arg331Ter)single nucleotide variantHypogonadotropic hypogonadism 8 without anosmiaGPR54|Metastin receptor|hOT7T175|kiSS-1 receptor|kiSS-1R|KiSS1-derived peptide receptor
S1PR2NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro)single nucleotide variantDeafness, autosomal recessive 68edg5|Gpcr13|endothelial differentiation G protein-coupled receptor 5|G protein-coupled receptor 13|GPCR18|S1P receptor 2
S1PR2NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys)single nucleotide variantDeafness, autosomal recessive 68edg5|Gpcr13|endothelial differentiation G protein-coupled receptor 5|G protein-coupled receptor 13|GPCR18|S1P receptor 2
MC1RNM_002386.4(MC1R):c.840del (p.Phe280fs)deletionBLOND HAIR/FAIR SKINMSH-R|melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC1RNM_002386.4(MC1R):c.894C>G (p.Tyr298Ter)single nucleotide variantSkin and Hair HypopigmentationMSH-R|melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC1RNM_002386.4(MC1R):c.512C>G (p.Ala171Gly)single nucleotide variantSkin and Hair HypopigmentationMSH-R|melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC2RNM_000529.2(MC2R):c.424G>T (p.Val142Leu)single nucleotide variantGlucocorticoid deficiency, due to ACTH unresponsivenessACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.459dup (p.Ile154fs)duplicationGlucocorticoid DeficiencyACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.409C>T (p.Arg137Trp)single nucleotide variantGlucocorticoid DeficiencyACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.752G>T (p.Cys251Phe)single nucleotide variantFAMILIAL GLUCOCORTICOID DEFICIENCY 1ACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RMC2R, 1-BP INS, 1347AinsertionFAMILIAL GLUCOCORTICOID DEFICIENCY 1ACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.319G>A (p.Asp107Asn)single nucleotide variantFAMILIAL GLUCOCORTICOID DEFICIENCY 1ACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.382C>T (p.Arg128Cys)single nucleotide variantFAMILIAL GLUCOCORTICOID DEFICIENCY 1ACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.360C>G (p.Ser120Arg)single nucleotide variantFAMILIAL GLUCOCORTICOID DEFICIENCY 1ACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.676G>C (p.Gly226Arg)single nucleotide variantACTH resistanceACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.601C>T (p.Arg201Ter)single nucleotide variantFAMILIAL GLUCOCORTICOID DEFICIENCY 1ACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.573C>A (p.Cys191Ter)single nucleotide variantGlucocorticoid DeficiencyACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.376G>T (p.Ala126Ser)single nucleotide variantAdrenal unresponsiveness to acthACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.674T>G (p.Leu225Arg)single nucleotide variantGlucocorticoid deficiency, due to ACTH unresponsivenessACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.702del (p.Phe235fs)deletionGlucocorticoid deficiency, due to ACTH unresponsivenessACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.410G>C (p.Arg137Pro)single nucleotide variantGlucocorticoid DeficiencyACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.433C>T (p.Arg145Cys)single nucleotide variantGlucocorticoid DeficiencyACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.465G>C (p.Trp155Cys)single nucleotide variantGlucocorticoid DeficiencyACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.560del (p.Val187fs)deletionGlucocorticoid DeficiencyACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.437G>A (p.Arg146His)single nucleotide variantGlucocorticoid deficiency 1ACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.761A>G (p.Tyr254Cys)single nucleotide variantFAMILIAL GLUCOCORTICOID DEFICIENCY 1ACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2RNM_000529.2(MC2R):c.221G>T (p.Ser74Ile)single nucleotide variantGlucocorticoid DeficiencyACTHR|melanocortin 2 receptor|adrenocorticotropic hormone receptor|melanocortin 2 receptor (adrenocorticotropic hormone)
MC4RNM_005912.3(MC4R):c.258G>T (p.Leu86Phe)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.496G>A (p.Val166Ile)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.494G>A (p.Arg165Gln)single nucleotide variantObesity
MC4RNM_005912.3(MC4R):c.861T>A (p.Tyr287Ter)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.831T>A (p.Cys277Ter)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.268G>A (p.Asp90Asn)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.466C>T (p.Gln156Ter)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RGRCh37/hg19 18q21.32(chr18:57940764-58095560)x1copy number lossSee cases
MC4RNM_005912.3(MC4R):c.206T>G (p.Ile69Arg)single nucleotide variantObesity, autosomal dominant
MC4RNM_005912.3(MC4R):c.811T>C (p.Cys271Arg)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.896C>A (p.Pro299His)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.835_836dup (p.Phe280fs)microsatelliteObesity disorder
MC4RNM_005912.3(MC4R):c.538T>C (p.Ser180Pro)single nucleotide variantObesity disorder
MC4RNM_005912.3(MC4R):c.656C>T (p.Ala219Val)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RMC4R, 15-BP DELdeletionBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.185A>G (p.Asn62Ser)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.289A>G (p.Asn97Asp)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.750_751del (p.Ile251fs)deletionObesity, autosomal dominant
MC4RNM_005912.3(MC4R):c.305T>G (p.Ile102Ser)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.947T>G (p.Ile316Ser)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.838T>C (p.Phe280Leu)single nucleotide variantOBESITY, SUSCEPTIBILITY TO
MC4RI125KvariationBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.812G>A (p.Cys271Tyr)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RMC4R, 4-BP DEL, 211CTCTdeletionBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.407C>T (p.Ser136Phe)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.493C>T (p.Arg165Trp)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.542G>A (p.Gly181Asp)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RMC4R, 2-BP INS, 279GTinsertionBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RMC4R, 4-BP DEL, NT631deletionBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.449C>T (p.Thr150Ile)single nucleotide variantObesity, autosomal dominant
MC4RMC4R, 4-BP INS, NT732insertionBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.148G>A (p.Val50Met)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.172A>T (p.Ser58Cys)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.508A>G (p.Ile170Val)single nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RMC4R, 1-BP INS, 112AinsertionBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4RNM_005912.3(MC4R):c.181G>A (p.Glu61Lys)single nucleotide variantObesity, autosomal dominant
GRM1NM_001278064.2(GRM1):c.26dup (p.Ala11fs)duplicationAutosomal recessive spinocerebellar ataxia 13GPRC1A|metabotropic glutamate receptor 1|wobl|MGLUR1|SCAR13|glutamate receptor, metabotropic 1|glutamate receptor
GRM1NM_001278064.2(GRM1):c.1360C>T (p.Leu454Phe)single nucleotide variantAutosomal recessive spinocerebellar ataxia 13GPRC1A|metabotropic glutamate receptor 1|wobl|MGLUR1|SCAR13|glutamate receptor, metabotropic 1|glutamate receptor
GRM1NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs)duplicationSpinocerebellar ataxia 44GPRC1A|metabotropic glutamate receptor 1|wobl|MGLUR1|SCAR13|glutamate receptor, metabotropic 1|glutamate receptor
GRM1NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys)single nucleotide variantSpinocerebellar ataxia 44GPRC1A|metabotropic glutamate receptor 1|wobl|MGLUR1|SCAR13|glutamate receptor, metabotropic 1|glutamate receptor
GRM1NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)single nucleotide variantAutosomal recessive spinocerebellar ataxia 13GPRC1A|metabotropic glutamate receptor 1|wobl|MGLUR1|SCAR13|glutamate receptor, metabotropic 1|glutamate receptor
GRM6NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)deldeletionLeber congenital amaurosisGprc1f|mGluR6|nob4|nerg1|nob2|nob3|glutamate receptor
GRM6GRM6, 1-BP INS, 720GinsertionNIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVEGprc1f|mGluR6|nob4|nerg1|nob2|nob3|glutamate receptor
GRM6NM_000843.4(GRM6):c.577del (p.Val193fs)deletionCongenital stationary night blindnessGprc1f|mGluR6|nob4|nerg1|nob2|nob3|glutamate receptor
GRM6NM_000843.4(GRM6):c.722-1G>Tsingle nucleotide variantNIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVEGprc1f|mGluR6|nob4|nerg1|nob2|nob3|glutamate receptor
GRM7NM_000844.4(GRM7):c.1975C>T (p.Arg659Ter)single nucleotide variantNeurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesmGluR7|GLUR7|GPRC1G|mGlu7a receptor|glutamate receptor
GRM7NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys)single nucleotide variantNeurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesmGluR7|GLUR7|GPRC1G|mGlu7a receptor|glutamate receptor
GRM7NM_000844.4(GRM7):c.1757G>A (p.Trp586Ter)single nucleotide variantNeurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesmGluR7|GLUR7|GPRC1G|mGlu7a receptor|glutamate receptor
GRM7NM_000844.4(GRM7):c.2496T>G (p.Ser832Arg)single nucleotide variantNeurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesmGluR7|GLUR7|GPRC1G|mGlu7a receptor|glutamate receptor
GRM7NM_000844.4(GRM7):c.461T>C (p.Ile154Thr)single nucleotide variantHypoplasia of the corpus callosummGluR7|GLUR7|GPRC1G|mGlu7a receptor|glutamate receptor
GRM7NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp)single nucleotide variantNeurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesmGluR7|GLUR7|GPRC1G|mGlu7a receptor|glutamate receptor
GRM7NM_000844.4(GRM7):c.2671G>A (p.Glu891Lys)single nucleotide variantNeurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesmGluR7|GLUR7|GPRC1G|mGlu7a receptor|glutamate receptor
GRM7NM_000844.4(GRM7):c.1180G>A (p.Glu394Lys)single nucleotide variantBilateral multifocal epileptiform dischargesmGluR7|GLUR7|GPRC1G|mGlu7a receptor|glutamate receptor
GRM8GRCh38/hg38 7q31.33(chr7:126029439-126947804)x1copy number lossSee casesGprc1h|mGluR8|GLUR8|mGluR8b|glutamate receptor
ACKR1NM_002036.4(ACKR1):c.286_299del (p.Trp96fs)deletionDUFFY NULL; Fy(a-b-)Duffy antigen/chemokine receptor|atypical chemokine receptor 1|CD234|Dfy|Duffy blood group, atypical chemokine receptor|Darc
ACKR1NM_002036.4(ACKR1):c.265C>T (p.Arg89Cys)single nucleotide variantDUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPEDuffy antigen/chemokine receptor|atypical chemokine receptor 1|CD234|Dfy|Duffy blood group, atypical chemokine receptor|Darc
ACKR1NM_002036.3(ACKR1):c.-67T>Csingle nucleotide variantPlasmodium vivax, resistance toDuffy antigen/chemokine receptor|atypical chemokine receptor 1|CD234|Dfy|Duffy blood group, atypical chemokine receptor|Darc
OPRM1NM_000914.5(OPRM1):c.204C>T (p.Ile68=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2309C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2441T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2288C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2293deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2324C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2911G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2389G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2905A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3052G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2910C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3090A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2917T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2368C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3182A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.268C>T (p.Leu90=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.224C>T (p.Ala75Val)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*554T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.290+4deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3191A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3209T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3230C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3237C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.223G>C (p.Ala75Pro)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.290+16G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.276_277del (p.Met92fs)deletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3097A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2942deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.243C>T (p.Cys81=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.234del (p.Ile79fs)deletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.230del (p.Tyr77fs)deletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.290+6deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2959deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-190C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.215C>T (p.Thr72Met)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-179A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-191G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-265T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-172G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-148C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-111deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-109G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-105G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-102C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.193C>T (p.Pro65Ser)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-167G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10999G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-281C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-59TC[1]microsatelliteTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*596C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NC_000006.12:g.154010479C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-427A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.194C>T (p.Pro65Leu)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-196G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*571T>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-301T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-98deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-191G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2994C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-194C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-271deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-304G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145280.4(OPRM1):c.-11+28170G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-354G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-358A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-384T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-259A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*544G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*135C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10410C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*133T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*137C>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*390_*391deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*416A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*129T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*424T>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*466C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*487_*488deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*494deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*511C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*513G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*515C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*523T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*446T>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*124C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*132_*133deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*55G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-209G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*19C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*37G>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*114T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*94C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*9C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*131T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1174C>T (p.Leu392=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-8354T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-8366G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*108C>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-8425C>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9688T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9696deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*96C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9741A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9737G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9838deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9790deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10943G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9792A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9833G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9875G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9956deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10452C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9965C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10370C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10420C>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10381C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10394G>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10409C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*549deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9968A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10411deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10589C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10875C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9783A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10915T>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10596C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10606C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10619C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10629T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10688T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10672C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10913C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10525G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10912T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10906A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10889G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10879C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10924deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-225T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.644-83G>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-237G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-27C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-111A>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*309T>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-119C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*322_*323deldeletionUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*356C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2251A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.118A>G (p.Asn40Asp)single nucleotide variantOpioid dependence, susceptibility to, 1Mu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*796C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*789T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*788G>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*764C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*720C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*674G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*662T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-12C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-7C>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-3C>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-2A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.736C>T (p.Pro246Ser)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+18C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11281G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9998A>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11239C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*291deldeletionUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*286A>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*659T>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*262C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*217G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*192T>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*183T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*175A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*169C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*148C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*138T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*222G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.739G>A (p.Val247Met)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*656G>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*642G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10853deldeletionUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10860C>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-228C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11189A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10357C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-125G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10336C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10248G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-128T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-8234G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-8253G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-8309deldeletionUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-8322G>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-8336C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9971C>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10840C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10823C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10820C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10800C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*637C>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*600G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*375C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*338G>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11280C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-121T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-127G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*653A>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10695A>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10757A>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10758A>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10759A>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10761C>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10777T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10785C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10799A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10726deldeletionUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-9979C>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.742C>T (p.Leu248Phe)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.755T>G (p.Val252Gly)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+168T>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11335T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11339G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11342T>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+2097G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+2071G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+2049T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+2048C>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+2043T>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+2027G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1816deldeletionUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1768A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1753A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1751G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1748A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1738A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+2046G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1709C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+274A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+286deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+291C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1650T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+204_1164+205deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1670deldeletionUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1702T>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1660C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1742A>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1701G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+273A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+275deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+270G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+258C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+224C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+212C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1705T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+266C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.754G>A (p.Val252Met)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1739A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+164G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+163T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+15C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+24G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+161A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1039C>T (p.Arg347Ter)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1027G>T (p.Glu343Ter)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.958T>C (p.Trp320Arg)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.866C>A (p.Ala289Asp)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.853C>T (p.Leu285=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.809C>T (p.Ser270Phe)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.800del (p.Leu267fs)deletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.767T>G (p.Leu256Arg)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.762T>G (p.Tyr254Ter)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.760T>A (p.Tyr254Asn)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.757T>G (p.Cys253Gly)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.640C>T (p.Gln214Ter)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2250G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2249G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2208A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.528G>C (p.Lys176Asn)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+162C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.629C>T (p.Thr210Ile)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.604C>T (p.Leu202Phe)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.596C>T (p.Ala199Val)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.582G>A (p.Trp194Ter)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.575G>T (p.Cys192Phe)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1727G>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.550C>T (p.Arg184Ter)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.529G>A (p.Ala177Thr)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11334T>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.523G>A (p.Val175Ile)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.506T>G (p.Ile169Ser)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.468C>T (p.Ser156=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2144G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2204T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.549C>T (p.Pro183=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10019deldeletionUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11182A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10113T>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.152del (p.Asp51fs)deletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.182C>T (p.Pro61Leu)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.290+18G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.27C>T (p.Asn9=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.290+22deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-99T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.1-11C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-55A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-11C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-2G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-1+11G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-1+51G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-1+70G>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.1-10C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.-1+86_-1+87deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.1-128T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.1-126C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.78del (p.Ser27fs)deletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.74C>A (p.Ala25Glu)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.53C>T (p.Ala18Val)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.7A>G (p.Ser3Gly)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+556deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1583C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1584A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10072G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1587C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1591C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1598G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1582G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.1-123G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.345A>T (p.Ala115=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-31T>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-35C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-25C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-20C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-14C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-7C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-2C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.-71C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-28T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.1-122A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.1-121T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.1-17C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.290+121G>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.290+122G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3445T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3440A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3328T>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3322A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2628A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3321A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2722G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2900A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2875G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2846G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2811T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2801A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-3240A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11101G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+314A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10972G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2876A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1839A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2529C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2016T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_001145279.4(OPRM1):c.1-130C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11116A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.290+72C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.290+118G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2499C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2464G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2462C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2459A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.290+87G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2139G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2509deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2031C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-1977deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-1976A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-1972G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-1971G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-1967A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-33A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2049G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+522deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1585G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+469C>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+47A>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+40G>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+31G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+478A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.392T>G (p.Leu131Arg)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.644-121T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.644-25T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1070_1071del (p.Ser357fs)microsatelliteTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1074C>T (p.Ser358=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1133C>T (p.Thr378Met)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1149T>C (p.Asp383=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1150A>G (p.Arg384Gly)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1154C>A (p.Thr385Asn)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1159C>A (p.His387Asn)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164G>A (p.Gln388=)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+9T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+35G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10127A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10130C>Tsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10138A>Csingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10170A>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10182deldeletionUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10201C>Gsingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+52G>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-10259G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.290+107deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2279C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+83C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+77T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+75G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+36G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2259G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+88C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.*669G>Asingle nucleotide variantUltram responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+106T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.291-2260C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1852G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1855T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+103deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1906C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1924C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1956A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1844G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1966C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1978T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+307deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1995C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+2011A>Gsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11121A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1165-11117C>Tsingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1973A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.388T>A (p.Tyr130Asn)single nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1842C>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1834G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+409T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+427G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+448deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+2004G>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+151deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.1164+1902T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.644-125T>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.644-129A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+115deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+138deldeletionTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+154A>Csingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+109T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
OPRM1NM_000914.5(OPRM1):c.643+173T>Asingle nucleotide variantTramadol responseMu receptor|MOP|OP3|MOPr|opioid receptor, mu 1|opioid receptor
PTH1RNM_000316.3(PTH1R):c.310C>T (p.Arg104Ter)single nucleotide variantChondrodysplasia Blomstrand typePPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.395C>T (p.Pro132Leu)single nucleotide variantChondrodysplasia Blomstrand typePPR|PTHR|PTHR1
PTH1RPTH1R, 1-BP DEL, 1122GdeletionChondrodysplasia Blomstrand typePPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.1373T>G (p.Ile458Arg)single nucleotide variantMetaphyseal chondrodysplasia, Jansen typePPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.668A>G (p.His223Arg)single nucleotide variantMetaphyseal chondrodysplasia Murk Jansen typePPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.1049+29C>Tsingle nucleotide variantChondrodysplasia Blomstrand typePPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.463G>T (p.Glu155Ter)single nucleotide variantUNERUPTED SECOND PRIMARY MOLARPPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.1229C>G (p.Thr410Arg)single nucleotide variantMetaphyseal chondrodysplasia, Jansen typePPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.1148G>A (p.Arg383Gln)single nucleotide variantChondrodysplasia Blomstrand typePPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.639-2A>Gsingle nucleotide variantPrimary failure of tooth eruptionPPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.723C>G (p.Asp241Glu)single nucleotide variantPseudohypoparathyroidismPPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.1453C>T (p.Arg485Ter)single nucleotide variantEiken skeletal dysplasiaPPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.611T>A (p.Val204Glu)single nucleotide variantPRIMARY FAILURE OF TOOTH ERUPTION, NONSYNDROMICPPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.1228A>C (p.Thr410Pro)single nucleotide variantMetaphyseal chondrodysplasia, Jansen typePPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.543+1G>Asingle nucleotide variantUNERUPTED SECOND PRIMARY MOLARPPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.1050-3C>Gsingle nucleotide variantUNERUPTED SECOND PRIMARY MOLARPPR|PTHR|PTHR1
PTH1RNM_000316.3(PTH1R):c.1373T>A (p.Ile458Lys)single nucleotide variantMetaphyseal chondrodysplasia Murk Jansen typePPR|PTHR|PTHR1
PTH2RNM_005048.4(PTH2R):c.473C>T (p.Ser158Phe)single nucleotide variantIntellectual disability syndromePTHR2
PROKR1NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln)single nucleotide variantAganglionic megacolonGPR73a|VEGFR-1|ZAQ|GPR73|G-protein coupled receptor ZAQ|G protein-coupled receptor 73
PROKR2NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln)single nucleotide variantPROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyGPR73b|VEGFR-2|GPR73a|GPRg2|I5E
PROKR2NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)single nucleotide variantKallmann syndrome 3GPR73b|VEGFR-2|GPR73a|GPRg2|I5E
PROKR2NM_144773.4(PROKR2):c.343G>A (p.Val115Met)single nucleotide variantPROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyGPR73b|VEGFR-2|GPR73a|GPRg2|I5E
PROKR2NM_144773.4(PROKR2):c.969G>A (p.Met323Ile)single nucleotide variantHYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIAGPR73b|VEGFR-2|GPR73a|GPRg2|I5E
PROKR2NM_144773.4(PROKR2):c.97T>C (p.Tyr33His)single nucleotide variantKallmann syndrome 3GPR73b|VEGFR-2|GPR73a|GPRg2|I5E
PROKR2NM_144773.4(PROKR2):c.685G>C (p.Gly229Arg)single nucleotide variantKallmann syndrome 3GPR73b|VEGFR-2|GPR73a|GPRg2|I5E
PROKR2NM_144773.4(PROKR2):c.691G>A (p.Glu231Lys)single nucleotide variantKallmann syndrome 3GPR73b|VEGFR-2|GPR73a|GPRg2|I5E
TBXA2RNM_001060.6(TBXA2R):c.787-2A>Gsingle nucleotide variantAbnormal platelet aggregationprostanoid TP receptor|TXA2-R
TBXA2RNM_001060.6(TBXA2R):c.548G>A (p.Cys183Tyr)single nucleotide variantBLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTORprostanoid TP receptor|TXA2-R
TACR3NM_001059.3(TACR3):c.692C>T (p.Thr231Ile)single nucleotide variantHypogonadotropic hypogonadism 11 with or without anosmiaNeurokinin B receptor|neurokinin beta receptor|Nmkr|Tac3r|neuromedin K receptor|NK-3 receptor|SP-N receptor
TACR3NM_001059.3(TACR3):c.766T>C (p.Tyr256His)single nucleotide variantHYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIANeurokinin B receptor|neurokinin beta receptor|Nmkr|Tac3r|neuromedin K receptor|NK-3 receptor|SP-N receptor
TACR3NM_001059.3(TACR3):c.623G>A (p.Trp208Ter)single nucleotide variantHypogonadotropic hypogonadism 7 with or without anosmiaNeurokinin B receptor|neurokinin beta receptor|Nmkr|Tac3r|neuromedin K receptor|NK-3 receptor|SP-N receptor
TACR3NM_001059.3(TACR3):c.511G>C (p.Ala171Pro)single nucleotide variantDelayed pubertyNeurokinin B receptor|neurokinin beta receptor|Nmkr|Tac3r|neuromedin K receptor|NK-3 receptor|SP-N receptor
TACR3NM_001059.3(TACR3):c.278G>A (p.Gly93Asp)single nucleotide variantHYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIANeurokinin B receptor|neurokinin beta receptor|Nmkr|Tac3r|neuromedin K receptor|NK-3 receptor|SP-N receptor
TACR3NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser)single nucleotide variantHYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIANeurokinin B receptor|neurokinin beta receptor|Nmkr|Tac3r|neuromedin K receptor|NK-3 receptor|SP-N receptor
TACR3NM_001059.3(TACR3):c.737+1G>Asingle nucleotide variantHypogonadotropic hypogonadism 11 with or without anosmiaNeurokinin B receptor|neurokinin beta receptor|Nmkr|Tac3r|neuromedin K receptor|NK-3 receptor|SP-N receptor
TACR3NM_001059.3(TACR3):c.824G>A (p.Trp275Ter)single nucleotide variantHYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIANeurokinin B receptor|neurokinin beta receptor|Nmkr|Tac3r|neuromedin K receptor|NK-3 receptor|SP-N receptor
TRHRNM_003301.7(TRHR):c.392T>C (p.Ile131Thr)single nucleotide variantHypothyroidism, congenital, nongoitrous, 7TRH receptor|thyroliberin receptor|TRH-R|TRH-R1
TRHRNM_003301.7(TRHR):c.242C>G (p.Pro81Arg)single nucleotide variantHypothyroidism, congenital, nongoitrous, 7TRH receptor|thyroliberin receptor|TRH-R|TRH-R1
TRHRNM_003301.7(TRHR):c.49C>T (p.Arg17Ter)single nucleotide variantHypothyroidism, congenital, nongoitrous, 7TRH receptor|thyroliberin receptor|TRH-R|TRH-R1
TRHRNM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr)indelHypothyroidism, congenital, nongoitrous, 7TRH receptor|thyroliberin receptor|TRH-R|TRH-R1
AVPR2NM_000054.7(AVPR2):c.738dup (p.Arg247fs)duplicationDiabetes insipidus nephrogenic type 1ADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.602G>A (p.Gly201Asp)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.839A>G (p.Tyr280Cys)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.213G>A (p.Trp71Ter)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.102del (p.Leu35fs)deletionDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.410G>A (p.Arg137His)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.313T>G (p.Phe105Val)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.137T>A (p.Ile46Lys)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.335G>T (p.Cys112Phe)single nucleotide variantDiabetes insipidus nephrogenic type 1ADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.410G>T (p.Arg137Leu)single nucleotide variantNephrogenic syndrome of inappropriate antidiuresisADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.176T>C (p.Leu59Pro)single nucleotide variantNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.290T>C (p.Leu97Pro)single nucleotide variantNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.424del (p.Cys142fs)deletionNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.682_683insC (p.Ile228fs)insertionDiabetes insipidus nephrogenic type 1ADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.878G>A (p.Trp293Ter)single nucleotide variantDiabetes insipidus nephrogenic type 1ADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.395C>A (p.Ala132Asp)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.857C>T (p.Pro286Leu)single nucleotide variantInborn genetic diseasesADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.24del (p.Ala9fs)deletionDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.809_810del (p.Val270fs)microsatelliteDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)single nucleotide variantNephrogenic syndrome of inappropriate antidiuresisADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.472del (p.Arg158fs)deletionNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.553G>T (p.Gly185Cys)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del)microsatelliteDiabetes insipidus nephrogenic type 1ADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.816G>A (p.Met272Ile)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.770dup (p.Gly257_Glu258insTer)duplicationDiabetes insipidus nephrogenic type 1ADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.738del (p.Arg247fs)deletionDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.554del (p.Gly185fs)deletionNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.838dup (p.Tyr280fs)duplicationNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.752_758del (p.Arg251fs)deletionNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys)single nucleotide variantNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.966del (p.Trp323fs)deletionNephrogenic Diabetes Insipidus, Type IADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.388A>T (p.Ile130Phe)single nucleotide variantDiabetes insipidus nephrogenic type 1ADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.819_821del (p.Leu274del)deletionNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.963C>A (p.Asn321Lys)single nucleotide variantNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.853G>C (p.Ala285Pro)single nucleotide variantNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.673C>T (p.Gln225Ter)single nucleotide variantNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.814A>G (p.Met272Val)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.607C>T (p.Arg203Cys)single nucleotide variantDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly)single nucleotide variantNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)deletionDiabetes insipidus, nephrogenic, X-linkedADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.770del (p.Gly257fs)deletionNephrogenic diabetes insipidusADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
AVPR2NM_000054.7(AVPR2):c.513C>G (p.Ser171Arg)single nucleotide variantDiabetes insipidus nephrogenic type 1ADHR|DIR3|antidiuretic hormone receptor|renal-type arginine vasopressin receptor
TAS2R38NM_176817.5(TAS2R38):c.886A>G (p.Ile296Val)single nucleotide variantPhenylthiocarbamide tastingphenylthiocarbamide tasting|PTC|T2R61|taste receptor, type 2, member 38
TAS2R38NM_176817.5(TAS2R38):c.145G>C (p.Ala49Pro)single nucleotide variantPhenylthiocarbamide tastingphenylthiocarbamide tasting|PTC|T2R61|taste receptor, type 2, member 38
OPN1SWNM_001708.2(OPN1SW):c.640T>C (p.Ser214Pro)single nucleotide variantTritanopiaopsin 1, short wave sensitive|opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)|opsin 1|opsin 1 (cone pigments)
OPN1SWNM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser)single nucleotide variantTritanopiaopsin 1, short wave sensitive|opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)|opsin 1|opsin 1 (cone pigments)
OPN1LWNM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter)single nucleotide variantColor blindness blue mono cone monochromatic typepsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)|opsin 1 (cone pigments)|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LWNM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)single nucleotide variantColor blindness blue mono cone monochromatic typepsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)|opsin 1 (cone pigments)|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LWNM_020061.6(OPN1LW):c.1013G>A (p.Gly338Glu)single nucleotide variantCOLORBLINDNESS, PARTIAL, PROTAN SERIESpsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)|opsin 1 (cone pigments)|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LWNC_000023.11:g.(154153459_154153462)_(154154925_154154928)deldeletionColor blindness blue mono cone monochromatic typepsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)|opsin 1 (cone pigments)|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LWNM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter)single nucleotide variantColor blindness blue mono cone monochromatic typepsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)|opsin 1 (cone pigments)|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1MWNM_000513.2(OPN1MW):c.282C>A (p.Asn94Lys)single nucleotide variantDEUTAN COLORBLINDNESSopsin 1 (cone pigments), medium-wave-sensitive|opsin 1 (cone pigments)|opsin 1, medium wave sensitive|opsin 1
OPN1MWNM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg)single nucleotide variantColor blindness blue mono cone monochromatic typeopsin 1 (cone pigments), medium-wave-sensitive|opsin 1 (cone pigments)|opsin 1, medium wave sensitive|opsin 1
OPN1MWNM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln)single nucleotide variantDEUTAN COLORBLINDNESSopsin 1 (cone pigments), medium-wave-sensitive|opsin 1 (cone pigments)|opsin 1, medium wave sensitive|opsin 1
OPN1MWNM_000513.2(OPN1MW):c.807_948del (p.Met269fs)deletionAchromatopsiaopsin 1 (cone pigments), medium-wave-sensitive|opsin 1 (cone pigments)|opsin 1, medium wave sensitive|opsin 1
OPN1MWNM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg)single nucleotide variantCone dystrophy 5, X-linkedopsin 1 (cone pigments), medium-wave-sensitive|opsin 1 (cone pigments)|opsin 1, medium wave sensitive|opsin 1
OPN1MWNM_000513.2(OPN1MW):c.-112A>Csingle nucleotide variantDEUTAN COLORBLINDNESSopsin 1 (cone pigments), medium-wave-sensitive|opsin 1 (cone pigments)|opsin 1, medium wave sensitive|opsin 1
RHONM_000539.3(RHO):c.50C>T (p.Thr17Met)single nucleotide variantAllHighlyPenetrant
RHONM_000539.3(RHO):c.173C>G (p.Thr58Arg)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.851G>A (p.Gly284Asp)single nucleotide variantRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.571T>A (p.Tyr191Asn)single nucleotide variantRetinitis pigmentosa 4
RHONM_000539.3(RHO):c.1039C>T (p.Pro347Ser)single nucleotide variantRP 4
RHONM_000539.3(RHO):c.392T>C (p.Leu131Pro)single nucleotide variantRP 4
RHONM_000539.3(RHO):c.560G>T (p.Cys187Phe)single nucleotide variantRetinitis pigmentosa 4
RHONM_000539.3(RHO):c.549dup (p.Gln184fs)duplicationNeuropathy, congenital hypomyelinating, 2
RHONM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del)deletionRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.647T>G (p.Met216Arg)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.1028G>A (p.Ser343Asn)single nucleotide variantRP 4
RHONM_000539.3(RHO):c.260T>A (p.Val87Asp)single nucleotide variantFundus albipunctatus
RHONM_000539.3(RHO):c.886A>G (p.Lys296Glu)single nucleotide variantRP 4
RHONM_000539.3(RHO):c.544G>A (p.Gly182Ser)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.800C>T (p.Pro267Leu)single nucleotide variantTapetoretinal degeneration
RHONM_000539.3(RHO):c.180C>A (p.Tyr60Ter)single nucleotide variantRP 4
RHONM_000539.3(RHO):c.979_982del (p.Pro327fs)deletionRetinitis pigmentosa
RHONM_000539.3(RHO):c.67C>G (p.Pro23Ala)single nucleotide variantRP 4
RHONM_000539.3(RHO):c.541G>A (p.Glu181Lys)single nucleotide variantRetinitis pigmentosa
RHONM_000539.3(RHO):c.946del (p.Cys316fs)deletionAutosomal dominant retinitis pigmentosa
RHONM_000539.3(RHO):c.520G>A (p.Gly174Ser)single nucleotide variantRetinitis pigmentosa
RHONM_000539.3(RHO):c.482G>A (p.Trp161Ter)single nucleotide variantRetinitis pigmentosa 4, autosomal recessive
RHONM_000539.3(RHO):c.632A>C (p.His211Pro)single nucleotide variantRP 4
RHONM_000539.3(RHO):c.68C>A (p.Pro23His)single nucleotide variantRetinitis pigmentosa 4
RHONM_000539.3(RHO):c.1040C>T (p.Pro347Leu)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.620T>G (p.Met207Arg)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.875C>A (p.Ala292Glu)single nucleotide variantCongenital stationary night blindness autosomal dominant 1
RHONM_000539.3(RHO):c.891C>G (p.Ser297Arg)single nucleotide variantPigmentary retinal dystrophy
RHONM_000539.3(RHO):c.316G>A (p.Gly106Arg)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.158C>G (p.Pro53Arg)single nucleotide variantTapetoretinal degeneration
RHONM_000539.3(RHO):c.745G>T (p.Glu249Ter)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.329G>A (p.Cys110Tyr)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.532T>C (p.Tyr178His)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.353_361+3deldeletionRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.929del (p.Asn310fs)deletionRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.886A>C (p.Lys296Gln)single nucleotide variantRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.647T>A (p.Met216Lys)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.538C>G (p.Pro180Ala)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.341G>T (p.Gly114Val)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.548_638dup (p.Ile214fs)duplicationTapetoretinal degeneration
RHONM_000539.3(RHO):c.497C>T (p.Ala166Val)single nucleotide variantTapetoretinal degeneration
RHONM_000539.3(RHO):c.563G>A (p.Gly188Glu)single nucleotide variantAllHighlyPenetrant
RHONM_000539.3(RHO):c.937-2A>Tsingle nucleotide variantRetinitis pigmentosa 4
RHONM_000539.3(RHO):c.557C>G (p.Ser186Trp)single nucleotide variantRetinitis pigmentosa 4
RHONM_000539.3(RHO):c.317G>T (p.Gly106Val)single nucleotide variantRetinitis pigmentosa 4
RHONM_000539.3(RHO):c.45T>G (p.Asn15Lys)single nucleotide variantRetinitis pigmentosa 4
RHONM_000539.3(RHO):c.908C>G (p.Pro303Arg)single nucleotide variantTapetoretinal degeneration
RHONM_000539.3(RHO):c.265G>C (p.Gly89Arg)single nucleotide variantTapetoretinal degeneration
RHONM_000539.3(RHO):c.328T>G (p.Cys110Gly)single nucleotide variantRP 4
RHONM_000539.3(RHO):c.538C>A (p.Pro180Thr)single nucleotide variantRP 4
RHONM_000539.3(RHO):c.302G>T (p.Gly101Val)single nucleotide variantRP 4
RHONM_000539.3(RHO):c.325G>A (p.Gly109Arg)single nucleotide variantRetinitis pigmentosa 4
RHONM_000539.3(RHO):c.152G>T (p.Gly51Val)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.560G>A (p.Cys187Tyr)single nucleotide variantRetinitis pigmentosa
RHONM_000539.3(RHO):c.977del (p.Asn326fs)deletionRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.1040del (p.Pro347fs)deletionRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.218A>G (p.Asn73Ser)single nucleotide variantRetinitis pigmentosa
RHONM_000539.3(RHO):c.362G>T (p.Gly121Val)single nucleotide variantCongenital stationary night blindness autosomal dominant 1
RHONM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu)indelRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.67C>T (p.Pro23Ser)single nucleotide variantRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.559T>C (p.Cys187Arg)single nucleotide variantRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.730C>T (p.Gln244Ter)single nucleotide variantRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.643C>G (p.Pro215Ala)single nucleotide variantRP 4
RHONM_000539.3(RHO):c.937-2A>Gsingle nucleotide variantRP 4
RHONM_000539.3(RHO):c.511C>T (p.Pro171Ser)single nucleotide variantRetinal dystrophy
RHONM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter)indelRetinal dystrophy
RHONM_000539.3(RHO):c.512C>A (p.Pro171Gln)single nucleotide variantTapetoretinal degeneration
RHONM_000539.3(RHO):c.673C>T (p.Gln225Ter)single nucleotide variantRETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHONM_000539.3(RHO):c.281C>T (p.Thr94Ile)single nucleotide variantNIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED

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