TRPM1 — 1416 ClinVar variants

All ClinVar germline TRPM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 588 flagged for review →

46 Pathogenic · 22 Pathogenic/Likely pathogenic · 46 Likely pathogenic · 102 Conflicting · 88 Benign · 26 Benign/Likely benign · 446 Likely benign · 640 Uncertain significance

Full TRPM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 588

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

TRPM1 p.Lys541Asn Pathogenic Single submitter
TRPM1-related disorder

Predictors agree, ClinVar conflicts 35

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

TRPM1 p.Ala1257Val Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.Ala1271Thr Conflicting Single submitter
TRPM1 p.Ala1371Thr Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.Ala314Glu Conflicting Single submitter
congenital stationary night blindness 1C
TRPM1 p.Ala717Thr Conflicting Single submitter
congenital stationary night blindness 1C
TRPM1 p.Arg1006His Conflicting Single submitter
congenital stationary night blindness 1C
TRPM1 p.Arg1270Gln Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.Arg1501Cys Conflicting Single submitter
congenital stationary night blindness 1C
TRPM1 p.Arg184Gln Conflicting Single submitter
congenital stationary night blindness 1C
TRPM1 p.Arg764Gln Conflicting Single submitter
TRPM1 p.Arg939Cys Conflicting Single submitter
TRPM1-related disorder
TRPM1 p.Arg950Trp Conflicting Single submitter
TRPM1-related disorder
TRPM1 p.Asp201Val Conflicting Single submitter
congenital stationary night blindness 1C
TRPM1 p.Glu1303Gln Conflicting Single submitter
optic atrophy
TRPM1 p.Glu829Lys Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.His419Tyr Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.Ile1024Phe Conflicting Single submitter
TRPM1-related disorder
TRPM1 p.Ile885Val Conflicting Single submitter
congenital stationary night blindness 1C
TRPM1 p.Leu121Pro Conflicting Single submitter
TRPM1-related disorder
TRPM1 p.Leu491Ser Conflicting Single submitter
TRPM1 p.Met563Lys Conflicting Single submitter
TRPM1-related disorder
TRPM1 p.Met984Ile Conflicting Single submitter
inherited retinal dystrophy
TRPM1 p.Met985Leu Conflicting Single submitter
TRPM1 p.Phe1446Tyr Conflicting Single submitter
TRPM1 p.Phe853Leu Conflicting Single submitter
TRPM1-related disorder
TRPM1 p.Pro1561Ser Conflicting Single submitter
TRPM1 p.Pro603Ala Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.Pro74Ser Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.Ser432Thr Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.Thr1484Met Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.Thr1500Met Conflicting Single submitter
inherited retinal dystrophy
TRPM1 p.Thr732Ala Conflicting Single submitter
inherited retinal dystrophy
TRPM1 p.Thr749Ser Conflicting Single submitter
congenital stationary night blindness 1C
TRPM1 p.Trp64Ser Conflicting Single submitter
TRPM1-related disorder
TRPM1 p.Val1334Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 420

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 420

TRPM1 p.Ala1364Val Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ala1371Pro Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ala1453Asp Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ala1534Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ala314Val Uncertain significance Multiple submitters
TRPM1 p.Arg1006Cys Uncertain significance Multiple submitters
TRPM1-related disorder
TRPM1 p.Arg1063Trp Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg1268Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg1270Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg1282Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg1444Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg1542Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg249Gln Uncertain significance Multiple submitters
TRPM1 p.Arg306His Uncertain significance Multiple submitters
TRPM1 p.Arg329Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg405Cys Uncertain significance Multiple submitters
TRPM1 p.Arg472Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg573Trp Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg577Trp Uncertain significance Multiple submitters
TRPM1 p.Arg629Gln Uncertain significance Multiple submitters
TRPM1 p.Arg656Gln Uncertain significance Multiple submitters
TRPM1 p.Arg743Gln Uncertain significance Multiple submitters
TRPM1 p.Arg766Trp Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg789His Uncertain significance Multiple submitters
TRPM1 p.Arg834Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg939His Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg96Cys Uncertain significance Multiple submitters
TRPM1 p.Asp1263Asn Uncertain significance Multiple submitters
TRPM1 p.Asp1308Val Uncertain significance Multiple submitters
TRPM1 p.Asp1549Gly Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Asp1549His Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Asp619Ala Uncertain significance Multiple submitters
TRPM1 p.Asp619Asn Uncertain significance Multiple submitters
TRPM1 p.Asp757Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Cys1324Arg Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Gln1493Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Glu1244Gln Uncertain significance Multiple submitters
TRPM1 p.Glu1302Lys Uncertain significance Multiple submitters
TRPM1 p.Glu1303Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Glu1307Lys Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Glu1385Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Glu1491Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Glu245Lys Uncertain significance Multiple submitters
TRPM1 p.Glu680Lys Uncertain significance Multiple submitters
TRPM1 p.Glu801Gly Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Gly1003Arg Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Gly1318Glu Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Gly1377Asp Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Gly154Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Gly279Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Gly279Ser Uncertain significance Multiple submitters
TRPM1 p.Gly424Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Gly770Ser Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Gly839Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.His1594Arg Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.His38Tyr Uncertain significance Multiple submitters
TRPM1 p.His511Gln Uncertain significance Multiple submitters
TRPM1 p.Ile1259Met Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ile1429Thr Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Ile256Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ile323Met Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ile336Val Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ile474Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ile503Phe Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ile503Thr Uncertain significance Multiple submitters
TRPM1 p.Ile783Thr Uncertain significance Multiple submitters
TRPM1 p.Ile885Leu Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Ile957Val Uncertain significance Multiple submitters
TRPM1 p.Leu202Pro Uncertain significance Multiple submitters
TRPM1 p.Leu386Arg Uncertain significance Multiple submitters
TRPM1 p.Leu535Pro Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Lys102Arg Uncertain significance Multiple submitters
TRPM1 p.Lys1458Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Lys1498Thr Uncertain significance Multiple submitters
TRPM1 p.Lys1613Met Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Lys607Arg Uncertain significance Multiple submitters
TRPM1 p.Met1078Val Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Met1216Val Uncertain significance Multiple submitters
inherited retinal dystrophy
TRPM1 p.Met355Val Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Phe313Val Uncertain significance Multiple submitters
TRPM1 p.Phe367Leu Uncertain significance Multiple submitters
TRPM1 p.Phe968Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Pro1016Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Pro41Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Pro421Leu Uncertain significance Multiple submitters
TRPM1 p.Pro429Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Pro442Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Pro780Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Pro879Leu Uncertain significance Multiple submitters
TRPM1 p.Ser1272Ala Uncertain significance Multiple submitters
TRPM1 p.Ser1400Phe Uncertain significance Multiple submitters
TRPM1 p.Ser1502Phe Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ser219Arg Uncertain significance Multiple submitters
TRPM1 p.Ser411Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ser48Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ser751Gly Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Thr1278Met Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Thr1426Met Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Thr1456Arg Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Thr1489Met Uncertain significance Multiple submitters
TRPM1 p.Thr1490Met Uncertain significance Multiple submitters
hereditary macular dystrophy
TRPM1 p.Thr208Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Thr430Met Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Thr435Met Uncertain significance Multiple submitters
TRPM1 p.Thr445Pro Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Trp654Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Trp884Cys Uncertain significance Multiple submitters
TRPM1 p.Tyr1435Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Tyr948Cys Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Val1096Gly Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Val1533Gly Uncertain significance Multiple submitters
TRPM1 p.Val1602Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Val272Met Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Val391Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Val465Met Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Val870Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Val886Asp Uncertain significance Multiple submitters
TRPM1 p.Val927Met Uncertain significance Multiple submitters
TRPM1 p.Val998Met Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ala149Thr Uncertain significance Single submitter
TRPM1 p.Ala150Val Uncertain significance Single submitter
TRPM1 p.Ala1518Val Uncertain significance Single submitter
TRPM1 p.Ala1595Thr Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Ala307Asp Uncertain significance Single submitter
TRPM1 p.Ala384Ser Uncertain significance Single submitter
TRPM1 p.Ala427Glu Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Ala434Asp Uncertain significance Single submitter
TRPM1 p.Ala45Pro Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Ala45Thr Uncertain significance Single submitter
TRPM1 p.Ala45Val Uncertain significance Single submitter
TRPM1 p.Ala490Ser Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Ala604Pro Uncertain significance Single submitter
TRPM1 p.Ala717Val Uncertain significance Single submitter
TRPM1 p.Ala819Pro Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Ala819Ser Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Arg1063Gln Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Arg1224Lys Uncertain significance Single submitter
TRPM1 p.Arg1261Lys Uncertain significance Single submitter
TRPM1 p.Arg1270Gly Uncertain significance Single submitter
TRPM1 p.Arg1296Gln Uncertain significance Single submitter
TRPM1 p.Arg1320Gly Uncertain significance Single submitter
TRPM1 p.Arg1444Pro Uncertain significance Single submitter
TRPM1 p.Arg1460Lys Uncertain significance Single submitter
TRPM1 p.Arg1466Gln Uncertain significance Single submitter
TRPM1 p.Arg1466Trp Uncertain significance Single submitter
TRPM1 p.Arg1542His Uncertain significance Single submitter
TRPM1 p.Arg1542Pro Uncertain significance Single submitter
TRPM1 p.Arg1580Thr Uncertain significance Single submitter
TRPM1 p.Arg249Gly Uncertain significance Single submitter
TRPM1 p.Arg250Ser Uncertain significance Single submitter

Predictors split 132

The independent predictors disagree with each other — read with care.

TRPM1 p.Ala1071Thr Uncertain significance Multiple submitters
TRPM1 p.Ala1079Val Uncertain significance Multiple submitters
TRPM1 p.Ala1240Pro Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ala150Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ala244Thr Uncertain significance Multiple submitters
TRPM1 p.Ala380Thr Likely benign Multiple submitters
TRPM1 p.Ala848Thr Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Arg766Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg789Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Arg874Trp Uncertain significance Multiple submitters
TRPM1 p.Arg963His Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Asp25Tyr Uncertain significance Multiple submitters
TRPM1 p.Asp624Asn Uncertain significance Multiple submitters
TRPM1 p.Glu1103Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Gly143Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Gly506Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ile413Val Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ile850Met Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Leu1043Phe Uncertain significance Multiple submitters
TRPM1 p.Leu1064Arg Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Leu865Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Leu893Val Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Lys241Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Lys613Glu Uncertain significance Multiple submitters
TRPM1 p.Phe416Leu Uncertain significance Multiple submitters
TRPM1 p.Trp1030Ser Uncertain significance Multiple submitters
TRPM1 p.Trp420Arg Uncertain significance Multiple submitters
TRPM1 p.Tyr945Cys Uncertain significance Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Val170Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Val275Met Likely benign Multiple submitters
TRPM1 p.Val480Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Val627Met Benign Multiple submitters
congenital stationary night blindness 1C
TRPM1 p.Val738Met Uncertain significance Multiple submitters
Inborn genetic diseases
TRPM1 p.Ala1045Gly Uncertain significance Single submitter
congenital stationary night blindness 1C
TRPM1 p.Ala1085Thr Uncertain significance Single submitter
TRPM1 p.Ala1257Glu Uncertain significance Single submitter
TRPM1 p.Ala155Ser Uncertain significance Single submitter
TRPM1 p.Ala307Ser Uncertain significance Single submitter
TRPM1 p.Ala650Ser Uncertain significance Single submitter
TRPM1 p.Ala675Gly Uncertain significance Single submitter
TRPM1 p.Ala894Glu Uncertain significance Single submitter
TRPM1 p.Ala92Gly Uncertain significance Single submitter
TRPM1 p.Ala936Glu Uncertain significance Single submitter
TRPM1 p.Arg1022Gln Conflicting Single submitter
TRPM1-related disorder
TRPM1 p.Arg1238Gln Uncertain significance Single submitter
TRPM1 p.Arg1268Trp Conflicting Single submitter
TRPM1 p.Arg1270Trp Conflicting Single submitter
TRPM1 p.Arg184Trp Uncertain significance Single submitter
TRPM1 p.Arg588Ser Uncertain significance Single submitter
congenital stationary night blindness 1C
TRPM1 p.Arg656Leu Uncertain significance Single submitter
TRPM1 p.Arg874Gln Uncertain significance Single submitter
TRPM1 p.Asn1049Thr Uncertain significance Single submitter
TRPM1 p.Asn1091Lys Uncertain significance Single submitter
TRPM1 p.Asn1109Lys Uncertain significance Single submitter
TRPM1 p.Asn131Ile Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Asn131Lys Uncertain significance Single submitter
TRPM1 p.Asn216Ser Uncertain significance Single submitter
TRPM1 p.Asn768Lys Uncertain significance Single submitter
TRPM1 p.Asn868Thr Likely benign Single submitter
TRPM1 p.Asp100Asn Uncertain significance Single submitter
TRPM1 p.Asp1058Glu Uncertain significance Single submitter
congenital stationary night blindness
TRPM1 p.Asp470Glu Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Asp497Asn Likely benign Single submitter
TRPM1 p.Asp825His Conflicting Single submitter
TRPM1 p.Asp925Glu Conflicting Single submitter
TRPM1 p.Cys186Phe Uncertain significance Single submitter
TRPM1 p.Cys954Gly Uncertain significance Single submitter
congenital stationary night blindness 1C
TRPM1 p.Cys954Ser Uncertain significance Single submitter
TRPM1 p.Gln115Glu Uncertain significance Single submitter
TRPM1 p.Gln130His Uncertain significance Single submitter
TRPM1 p.Gln941Arg Uncertain significance Single submitter
TRPM1 p.Gln943Leu Uncertain significance Single submitter
TRPM1 p.Glu1013Gly Uncertain significance Single submitter
TRPM1 p.Glu1219Ala Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Glu200Lys Uncertain significance Single submitter
TRPM1 p.Glu326Val Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Glu787Gln Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Glu844Lys Uncertain significance Single submitter
TRPM1 p.Gly565Arg Conflicting Single submitter
TRPM1 p.Gly699Ser Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.Gly86Ser Uncertain significance Single submitter
TRPM1 p.His1188Leu Conflicting Single submitter
congenital stationary night blindness 1C
TRPM1 p.His169Gln Uncertain significance Single submitter
TRPM1 p.His533Gln Uncertain significance Single submitter
TRPM1 p.Ile1221Thr Uncertain significance Single submitter
TRPM1 p.Ile195Met Likely benign Single submitter
Inborn genetic diseases
TRPM1 p.Ile515Met Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Ile850Phe Uncertain significance Single submitter
TRPM1 p.Leu109Val Uncertain significance Single submitter
TRPM1 p.Leu221Phe Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Leu332Phe Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Leu544Pro Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Lys344Asn Uncertain significance Single submitter
TRPM1 p.Lys359Asn Uncertain significance Single submitter
TRPM1 p.Lys360Asn Uncertain significance Single submitter
TRPM1 p.Lys540Thr Uncertain significance Single submitter
TRPM1 p.Lys605Glu Uncertain significance Single submitter
TRPM1 p.Lys614Met Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Lys696Asn Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Lys772Gln Uncertain significance Single submitter
TRPM1 p.Met1214Val Uncertain significance Single submitter
TRPM1 p.Met1228Arg Uncertain significance Single submitter
TRPM1 p.Met509Ile Uncertain significance Single submitter
TRPM1 p.Met509Val Uncertain significance Single submitter
congenital stationary night blindness 1C
TRPM1 p.Met638Leu Uncertain significance Single submitter
TRPM1 p.Met638Val Uncertain significance Single submitter
TRPM1 p.Met903Leu Uncertain significance Single submitter
TRPM1 p.Met985Ile Uncertain significance Single submitter
TRPM1 p.Phe1102Ile Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Pro1050Ser Uncertain significance Single submitter
TRPM1 p.Pro1069Ser Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Pro625Leu Uncertain significance Single submitter
TRPM1 p.Ser1597Arg Uncertain significance Single submitter
TRPM1 p.Ser89Phe Uncertain significance Single submitter
TRPM1 p.Thr335Ile Uncertain significance Single submitter
TRPM1 p.Thr389Ala Uncertain significance Single submitter
TRPM1 p.Trp1030Leu Uncertain significance Single submitter
TRPM1 p.Tyr78Cys Conflicting Single submitter
TRPM1 p.Tyr99Cys Uncertain significance Single submitter
TRPM1 p.Val1096Met Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Val141Ile Uncertain significance Single submitter
TRPM1 p.Val282Met Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.Val283Ala Uncertain significance Single submitter
TRPM1 p.Val334Ala Uncertain significance Single submitter
Inborn genetic diseases
TRPM1 p.Val536Met Uncertain significance Single submitter
TRPM1 p.Val627Leu Uncertain significance Single submitter
TRPM1 p.Val80Ala Uncertain significance Single submitter
TRPM1 p.Val886Ile Uncertain significance Single submitter
TRPM1 p.Val992Met Uncertain significance Single submitter
TRPM1 p.Val997Ile Conflicting Single submitter
Inborn genetic diseases
TRPM1 p.Cys1052Tyr Likely pathogenic No assertion criteria
congenital stationary night blindness
TRPM1 p.Tyr289His Uncertain significance No assertion criteria
TRPM1-related disorder

All TRPM1 variants

Pathogenic 46

c.494-1G>C Multiple submitters TRPM1-related disorder
p.Gly279fs Multiple submitters TRPM1-related disorder
p.Ser124fs Multiple submitters congenital stationary night blindness 1C
p.Thr782fs Multiple submitters congenital stationary night blindness 1C
p.Tyr796Ter Multiple submitters
c.2700+1G>A Single submitter
c.2700+2T>G Single submitter
c.3496_3496+1del Single submitter congenital stationary night blindness 1C
p.Arg410Ter Single submitter
p.Arg834fs Single submitter
p.Cys750Ter Single submitter
p.Gln1186fs Single submitter
p.Gln1186Ter Single submitter
p.Gln135Ter Single submitter
p.Gln631fs Single submitter
p.Glu1191fs Single submitter congenital stationary night blindness 1C
p.Glu245Ter Single submitter
p.Glu617fs Single submitter Inborn genetic diseases
p.Glu658Ter Single submitter
p.Gly448fs Single submitter
p.Gly527fs Single submitter
p.Gly839Ter Single submitter
p.His255fs Single submitter
p.Ile1041fs Single submitter
p.Ile408fs Single submitter
p.Ile913fs Single submitter
p.Leu42fs Single submitter
p.Lys541Asn Single submitter TRPM1-related disorder ⚠
p.Met379fs Single submitter
p.Phe498fs Single submitter
p.Pro976fs Single submitter
p.Ser1600fs Single submitter congenital stationary night blindness 1C
p.Ser308Leu Single submitter TRPM1-related disorder
p.Trp640Ter Single submitter
p.Trp654Ter Single submitter
p.Tyr1033fs Single submitter
p.Tyr1044Ter Single submitter
p.Tyr671Ter Single submitter congenital stationary night blindness 1C
p.Tyr791Ter Single submitter congenital stationary night blindness 1C
p.Tyr920Ter Single submitter
p.Val185fs Single submitter
c.2087+2T>C No assertion criteria congenital stationary night blindness 1C
p.Gln33Ter No assertion criteria congenital stationary night blindness 1C
p.Glu436fs No assertion criteria congenital stationary night blindness 1C
p.Lys316Ter No assertion criteria congenital stationary night blindness
p.Ser904Ter No assertion criteria congenital stationary night blindness 1C

Pathogenic/Likely pathogenic 22

c.1089+3_1089+6del Multiple submitters TRPM1-related disorder
c.2316+1G>A Multiple submitters TRPM1-related disorder
c.3127+1G>A Multiple submitters inherited retinal dystrophy
c.3148+1G>A Multiple submitters TRPM1-related disorder
c.618+3_618+6del Multiple submitters TRPM1-related disorder
p.Ala848Val Multiple submitters TRPM1-related disorder
p.Arg1022Ter Multiple submitters TRPM1-related disorder
p.Arg249Ter Multiple submitters TRPM1-related disorder
p.Arg646Cys Multiple submitters TRPM1-related disorder
p.Arg656Ter Multiple submitters congenital stationary night blindness 1C
p.Arg899Ter Multiple submitters TRPM1-related disorder
p.Arg950Gln Multiple submitters TRPM1-related disorder
p.Asp113fs Multiple submitters TRPM1-related disorder
p.Gly161fs Multiple submitters TRPM1-related disorder
p.Lys457Ter Multiple submitters TRPM1-related disorder
p.Met718fs Multiple submitters TRPM1-related disorder
p.Trp1072fs Multiple submitters TRPM1-related disorder
p.Trp878Ter Multiple submitters congenital stationary night blindness 1C
p.Tyr1057Ter Multiple submitters TRPM1-related disorder
p.Tyr522Ter Multiple submitters TRPM1-related disorder
p.Tyr94Cys Multiple submitters TRPM1-related disorder
p.Val1036fs Multiple submitters TRPM1-related disorder

Likely pathogenic 46

c.1089+1G>A Multiple submitters TRPM1-related disorder
c.2317-1G>C Multiple submitters TRPM1-related disorder
c.2440-2A>G Multiple submitters TRPM1-related disorder
c.2571+1G>A Multiple submitters retinal disorder
c.3148+1G>T Multiple submitters TRPM1-related disorder
c.3630-1G>A Multiple submitters TRPM1-related disorder
c.83+1G>A Multiple submitters TRPM1-related disorder
p.Arg646His Multiple submitters TRPM1-related disorder
c.1438-2A>G Single submitter
c.1572+2T>G Single submitter TRPM1-related disorder
c.1623+1del Single submitter congenital stationary night blindness 1C
c.1623+1G>A Single submitter congenital stationary night blindness 1C
c.1764+2T>C Single submitter TRPM1-related disorder
c.1786_1794+11del Single submitter TRPM1-related disorder
c.1794+1G>A Single submitter
c.2572-2A>G Single submitter
c.279+1G>T Single submitter
c.493+1G>A Single submitter TRPM1-related disorder
c.494-3C>G Single submitter
c.618+1G>A Single submitter
c.790+2T>C Single submitter
c.84-118_98delinsGTTG Single submitter
c.966-1G>A Single submitter
c.966-2A>G Single submitter TRPM1-related disorder
p.Ala92Pro Single submitter congenital stationary night blindness 1C
p.Arg646Leu Single submitter TRPM1-related disorder
p.Asn27Ter Single submitter congenital stationary night blindness 1C
p.Asp1058del Single submitter TRPM1-related disorder
p.Gln140fs Single submitter TRPM1-related disorder
p.Glu1225fs Single submitter TRPM1-related disorder
p.Gly194Cys Single submitter TRPM1-related disorder
p.Met214fs Single submitter TRPM1-related disorder
p.Met995Thr Single submitter congenital stationary night blindness 1C
p.Pro633His Single submitter TRPM1-related disorder
p.Trp854Ter Single submitter TRPM1-related disorder
p.Tyr632Ter Single submitter TRPM1-related disorder
p.Tyr710Ter Single submitter congenital stationary night blindness 1C
p.Tyr94His Single submitter
p.Cys1052Tyr No assertion criteria congenital stationary night blindness ⚠
p.Gly127Glu No assertion criteria congenital stationary night blindness
p.Gly278Arg No assertion criteria congenital stationary night blindness
p.Leu258Pro No assertion criteria congenital stationary night blindness 1C
p.Leu779Pro No assertion criteria inherited retinal dystrophy
p.Lys1615fs No assertion criteria congenital stationary night blindness 1C
p.Met487Lys No assertion criteria congenital stationary night blindness 1C
p.Tyr94Ter No assertion criteria congenital stationary night blindness 1C

Conflicting classifications of pathogenicity 102

c.1162+6C>A Single submitter
c.1624-8_1629del Single submitter
c.1795-8C>G Single submitter congenital stationary night blindness 1C
c.2087+3T>G Single submitter
c.2088-3C>T Single submitter
c.2088-8C>T Single submitter congenital stationary night blindness 1C
c.2316+4C>G Single submitter
c.2317-4G>A Single submitter
c.2440-12T>A Single submitter congenital stationary night blindness 1C
c.2701-10T>A Single submitter congenital stationary night blindness 1C
c.279+147T>G Single submitter congenital stationary night blindness 1C
c.280-10T>A Single submitter
c.3128-9G>A Single submitter
c.3293+5G>A Single submitter
c.3294-15G>A Single submitter congenital stationary night blindness 1C
c.493+13C>T Single submitter congenital stationary night blindness 1C
c.494-4A>C Single submitter
c.494-8G>A Single submitter congenital stationary night blindness 1C
c.84-3C>G Single submitter inherited retinal dystrophy
c.965+18C>T Single submitter
p.Ala1257Val Single submitter Inborn genetic diseases ⚠
p.Ala1271Thr Single submitter ⚠
p.Ala1371Thr Single submitter Inborn genetic diseases ⚠
p.Ala1619= Single submitter
p.Ala314= Single submitter congenital stationary night blindness 1C
p.Ala314Glu Single submitter congenital stationary night blindness 1C ⚠
p.Ala717Thr Single submitter congenital stationary night blindness 1C ⚠
p.Arg1006His Single submitter congenital stationary night blindness 1C ⚠
p.Arg1022Gln Single submitter TRPM1-related disorder ⚠
p.Arg1268Trp Single submitter ⚠
p.Arg1270Gln Single submitter Inborn genetic diseases ⚠
p.Arg1270Trp Single submitter ⚠
p.Arg1501Cys Single submitter congenital stationary night blindness 1C ⚠
p.Arg1539Ter Single submitter
p.Arg184Gln Single submitter congenital stationary night blindness 1C ⚠
p.Arg495His Single submitter hereditary macular dystrophy
p.Arg762Thr Single submitter congenital stationary night blindness 1C
p.Arg764Gln Single submitter ⚠
p.Arg939Cys Single submitter TRPM1-related disorder ⚠
p.Arg950Trp Single submitter TRPM1-related disorder ⚠
p.Asn1255fs Single submitter TRPM1-related disorder
p.Asp201Val Single submitter congenital stationary night blindness 1C ⚠
p.Asp25= Single submitter congenital stationary night blindness 1C
p.Asp825His Single submitter ⚠
p.Asp925Glu Single submitter ⚠
p.Gln485= Single submitter congenital stationary night blindness 1C
p.Glu1254Ter Single submitter TRPM1-related disorder
p.Glu1303Gln Single submitter optic atrophy ⚠
p.Glu200= Single submitter congenital stationary night blindness 1C
p.Glu829Lys Single submitter Inborn genetic diseases ⚠
p.Gly145= Single submitter
p.Gly565Arg Single submitter ⚠
p.Gly699Ser Single submitter Inborn genetic diseases ⚠
p.Gly820= Single submitter congenital stationary night blindness 1C
p.Gly87Arg Single submitter Inborn genetic diseases
p.His1188Leu Single submitter congenital stationary night blindness 1C ⚠
p.His126= Single submitter congenital stationary night blindness 1C
p.His169= Single submitter congenital stationary night blindness 1C
p.His419Tyr Single submitter Inborn genetic diseases ⚠
p.His635= Single submitter congenital stationary night blindness 1C
p.Ile1024Phe Single submitter TRPM1-related disorder ⚠
p.Ile1585= Single submitter congenital stationary night blindness 1C
p.Ile838= Single submitter congenital stationary night blindness 1C
p.Ile885Val Single submitter congenital stationary night blindness 1C ⚠
p.Leu121Pro Single submitter TRPM1-related disorder ⚠
p.Leu265= Single submitter congenital stationary night blindness 1C
p.Leu363= Single submitter congenital stationary night blindness 1C
p.Leu491Ser Single submitter ⚠
p.Leu534= Single submitter congenital stationary night blindness 1C
p.Leu926= Single submitter congenital stationary night blindness 1C
p.Lys832= Single submitter congenital stationary night blindness 1C
p.Met23Ile Single submitter
p.Met563Lys Single submitter TRPM1-related disorder ⚠
p.Met984Ile Single submitter inherited retinal dystrophy ⚠
p.Met985Leu Single submitter ⚠
p.Phe1446Tyr Single submitter ⚠
p.Phe630= Single submitter congenital stationary night blindness 1C
p.Phe853Leu Single submitter TRPM1-related disorder ⚠
p.Phe959= Single submitter congenital stationary night blindness 1C
p.Pro1436= Single submitter congenital stationary night blindness 1C
p.Pro1561Ser Single submitter ⚠
p.Pro421= Single submitter TRPM1-related disorder
p.Pro603Ala Single submitter Inborn genetic diseases ⚠
p.Pro74Ser Single submitter Inborn genetic diseases ⚠
p.Ser179Phe Single submitter congenital stationary night blindness 1C
p.Ser308= Single submitter
p.Ser432Thr Single submitter Inborn genetic diseases ⚠
p.Ser888del Single submitter TRPM1-related disorder
p.Thr10= Single submitter congenital stationary night blindness 1C
p.Thr1484Met Single submitter Inborn genetic diseases ⚠
p.Thr1500Met Single submitter inherited retinal dystrophy ⚠
p.Thr732Ala Single submitter inherited retinal dystrophy ⚠
p.Thr749Ser Single submitter congenital stationary night blindness 1C ⚠
p.Thr756= Single submitter congenital stationary night blindness 1C
p.Trp1492Ter Single submitter
p.Trp64Ser Single submitter TRPM1-related disorder ⚠
p.Tyr723= Single submitter congenital stationary night blindness 1C
p.Tyr78Cys Single submitter ⚠
p.Val1084= Single submitter congenital stationary night blindness 1C
p.Val1334Met Single submitter Inborn genetic diseases ⚠
p.Val282Met Single submitter Inborn genetic diseases ⚠
p.Val997Ile Single submitter Inborn genetic diseases ⚠

Benign 88

c.1089+144G>T Multiple submitters
c.1163-38G>A Multiple submitters
c.1264-35T>C Multiple submitters
c.1437+114T>A Multiple submitters
c.1438-61G>A Multiple submitters
c.1572+117C>T Multiple submitters
c.1572+14A>G Multiple submitters congenital stationary night blindness 1C
c.1572+62G>A Multiple submitters
c.1764+163T>G Multiple submitters
c.1764+9C>G Multiple submitters congenital stationary night blindness 1C
c.1765-64A>C Multiple submitters
c.1794+46T>C Multiple submitters
c.2087+194T>C Multiple submitters
c.2316+82G>T Multiple submitters
c.279+413G>A Multiple submitters
c.3+38T>C Multiple submitters
c.3148+118G>A Multiple submitters
c.3149-24G>C Multiple submitters
c.4-36G>A Multiple submitters congenital stationary night blindness 1C
c.4-71G>A Multiple submitters
c.494-162G>A Multiple submitters
c.494-67A>C Multiple submitters
c.54+53A>G Multiple submitters
c.790+61C>T Multiple submitters
c.83+193G>C Multiple submitters
c.83+218A>G Multiple submitters
c.84-225C>T Multiple submitters
c.-33T>C Multiple submitters
c.-83-86A>G Multiple submitters
c.*251A>G Multiple submitters congenital stationary night blindness 1C
c.*571G>A Multiple submitters congenital stationary night blindness 1C
p.Arg1444Gly Multiple submitters congenital stationary night blindness 1C
p.Arg6Trp Multiple submitters
p.Asn1251Thr Multiple submitters congenital stationary night blindness 1C
p.Asn802= Multiple submitters congenital stationary night blindness 1C
p.Asn847= Multiple submitters congenital stationary night blindness 1C
p.Glu1397Ter Multiple submitters congenital stationary night blindness 1C
p.His1520Gln Multiple submitters congenital stationary night blindness 1C
p.Leu9Phe Multiple submitters
p.Pro1401Thr Multiple submitters congenital stationary night blindness 1C
p.Ser54Asn Multiple submitters congenital stationary night blindness 1C
p.Thr1336Met Multiple submitters congenital stationary night blindness 1C
p.Thr435= Multiple submitters congenital stationary night blindness 1C
p.Tyr548= Multiple submitters congenital stationary night blindness 1C
p.Tyr791= Multiple submitters congenital stationary night blindness 1C
p.Val1417Ile Multiple submitters congenital stationary night blindness 1C
p.Val627Met Multiple submitters congenital stationary night blindness 1C ⚠
c.1090-187dup Single submitter
c.1162+257T>C Single submitter
c.1163-136G>A Single submitter
c.1264-300T>C Single submitter
c.1572+18del Single submitter
c.1572+214A>G Single submitter
c.1624-219T>C Single submitter
c.1764+265T>C Single submitter
c.1765-303C>T Single submitter
c.1795-238G>A Single submitter
c.2088-18C>T Single submitter
c.2088-269G>C Single submitter
c.2088-3dup Single submitter
c.2316+123C>A Single submitter
c.2571+161C>T Single submitter
c.2571+184C>T Single submitter
c.2700+319A>C Single submitter
c.279+86G>C Single submitter
c.280-262C>T Single submitter
c.2952+258T>A Single submitter
c.2953-312C>G Single submitter
c.3+313G>A Single submitter
c.3128-248G>A Single submitter
c.3128-281C>T Single submitter
c.3148+183T>G Single submitter
c.3149-162C>T Single submitter
c.3149-8dup Single submitter
c.3294-17dup Single submitter
c.3629+268G>C Single submitter
c.4-170C>T Single submitter
c.4-230G>A Single submitter
c.493+170A>T Single submitter
c.494-202C>T Single submitter
c.54+198C>T Single submitter
c.790+20C>T Single submitter
c.791-113G>A Single submitter
c.791-309A>G Single submitter
c.*549T>C Single submitter congenital stationary night blindness 1C
c.*723T>C Single submitter congenital stationary night blindness 1C
p.Glu905Gly Single submitter
p.Leu1557= Single submitter

Benign/Likely benign 26

c.1263+10dup Multiple submitters
c.1263+19G>A Multiple submitters
c.1573-10T>C Multiple submitters congenital stationary night blindness 1C
c.2316+11C>T Multiple submitters congenital stationary night blindness 1C
c.2316+12G>A Multiple submitters congenital stationary night blindness 1C
c.3293+7G>A Multiple submitters
p.Ala717Pro Multiple submitters congenital stationary night blindness 1C
p.Arg1327His Multiple submitters congenital stationary night blindness 1C
p.Arg1444Cys Multiple submitters congenital stationary night blindness 1C
p.Arg1501His Multiple submitters congenital stationary night blindness 1C
p.Glu1303Lys Multiple submitters congenital stationary night blindness 1C
p.Gly243= Multiple submitters congenital stationary night blindness 1C
p.Gly459Val Multiple submitters
p.Gly86= Multiple submitters
p.Gly877= Multiple submitters congenital stationary night blindness 1C
p.Ile195= Multiple submitters
p.Leu996= Multiple submitters
p.Lys205= Multiple submitters congenital stationary night blindness 1C
p.Pro421Thr Multiple submitters congenital stationary night blindness 1C
p.Pro429Thr Multiple submitters congenital stationary night blindness 1C
p.Pro516= Multiple submitters
p.Thr1313Met Multiple submitters congenital stationary night blindness 1C
p.Tyr78= Multiple submitters congenital stationary night blindness 1C
p.Val1582Met Multiple submitters congenital stationary night blindness 1C
p.Val1604= Multiple submitters congenital stationary night blindness 1C
p.Val997= Multiple submitters congenital stationary night blindness 1C

Likely benign 446

Showing the top 300 by review status; the full set is in the sitemap.

c.1089+18A>G Multiple submitters
c.1089+7G>C Multiple submitters
c.1162+8C>T Multiple submitters
c.1163-20C>T Multiple submitters
c.1438-18G>C Multiple submitters
c.1438-19C>T Multiple submitters
c.1623+10C>T Multiple submitters
c.1624-7T>C Multiple submitters
c.1764+11G>A Multiple submitters
c.1764+20T>C Multiple submitters
c.1795-7C>T Multiple submitters
c.2087+13C>T Multiple submitters
c.2087+14G>A Multiple submitters
c.2316+5G>A Multiple submitters
c.2439+16G>C Multiple submitters
c.2439+17A>C Multiple submitters
c.2440-16G>A Multiple submitters
c.2701-13G>C Multiple submitters
c.2701-4T>C Multiple submitters
c.2952+13A>G Multiple submitters
c.2952+18G>A Multiple submitters
c.3149-17C>T Multiple submitters
p.Arg1063= Multiple submitters
c.3293+16G>A Multiple submitters
c.494-10C>T Multiple submitters
c.619-18C>T Multiple submitters
c.83+17G>A Multiple submitters
c.965+14C>T Multiple submitters
c.965+17G>A Multiple submitters
c.965+19G>A Multiple submitters
c.*447G>C Multiple submitters congenital stationary night blindness 1C
p.Ala1525= Multiple submitters
p.Ala244= Multiple submitters
p.Ala380Thr Multiple submitters ⚠
p.Ala894= Multiple submitters
p.Arg1063= Multiple submitters
p.Arg184= Multiple submitters
p.Arg517= Multiple submitters
p.Asn1247= Multiple submitters
p.Asn1300= Multiple submitters Inborn genetic diseases
p.Asn1370= Multiple submitters
p.Asn390= Multiple submitters
p.Asn694= Multiple submitters
p.Asn922= Multiple submitters
p.Asp309= Multiple submitters
p.Asp599= Multiple submitters
p.Asp713= Multiple submitters
p.Glu1243= Multiple submitters
p.Glu1438= Multiple submitters
p.Gly128= Multiple submitters
p.Ile1259= Multiple submitters
p.Ile39= Multiple submitters
p.Ile555= Multiple submitters
p.Ile885= Multiple submitters
p.Ile890= Multiple submitters
p.Leu1242= Multiple submitters
p.Leu1256= Multiple submitters
p.Leu1570= Multiple submitters
p.Leu274= Multiple submitters
p.Leu557= Multiple submitters
p.Leu989= Multiple submitters
p.Lys338= Multiple submitters
p.Phe1002= Multiple submitters
p.Phe968= Multiple submitters
p.Pro1069= Multiple submitters
p.Pro1315= Multiple submitters
p.Pro1447= Multiple submitters
p.Pro429= Multiple submitters
p.Pro545= Multiple submitters
p.Pro769= Multiple submitters
p.Pro879= Multiple submitters
p.Ser1482= Multiple submitters
p.Ser304= Multiple submitters
p.Ser681= Multiple submitters
p.Ser795= Multiple submitters
p.Thr1398= Multiple submitters
p.Thr1426= Multiple submitters
p.Thr1450Met Multiple submitters congenital stationary night blindness 1C
p.Thr1484= Multiple submitters
p.Thr1490= Multiple submitters
p.Thr1500= Multiple submitters
p.Thr153= Multiple submitters
p.Thr159= Multiple submitters
p.Thr430= Multiple submitters
p.Thr840= Multiple submitters
p.Tyr1044= Multiple submitters
p.Tyr94= Multiple submitters
p.Val141= Multiple submitters
p.Val275Met Multiple submitters ⚠
p.Val283= Multiple submitters
c.1090-14T>C Single submitter
c.1090-8A>G Single submitter
c.1162+15A>G Single submitter
c.1162+18G>A Single submitter
c.1163-15T>C Single submitter
c.1163-17G>T Single submitter
c.1163-18G>A Single submitter
c.1163-19C>T Single submitter
c.1263+16T>C Single submitter
c.1263+17T>C Single submitter
c.1263+18C>T Single submitter
c.1263+19G>T Single submitter
c.1264-11G>A Single submitter
c.1264-159G>A Single submitter
c.1264-18G>A Single submitter
c.1264-18G>T Single submitter
c.1264-19T>C Single submitter
c.1264-4G>A Single submitter
c.1264-7A>C Single submitter
c.1437+26G>A Single submitter
c.1438-10G>A Single submitter
c.1438-16C>G Single submitter
c.1438-18G>A Single submitter
c.1438-8C>G Single submitter
c.1572+10C>G Single submitter
c.1572+20G>T Single submitter
c.1623+13T>C Single submitter
c.1623+19A>G Single submitter
c.1623+20A>G Single submitter
c.1623+9A>G Single submitter
c.1624-12C>T Single submitter
c.1764+12T>C Single submitter
c.1764+13G>T Single submitter
c.1764+16T>C Single submitter
c.1765-10C>T Single submitter
c.1765-16C>T Single submitter
c.1765-18T>C Single submitter
c.1765-21del Single submitter
c.1765-21dup Single submitter
c.1794+8G>T Single submitter
c.1795-15T>C Single submitter
c.2087+12G>A Single submitter
c.2087+15G>C Single submitter
c.2088-10T>C Single submitter
c.2088-11T>C Single submitter
c.2088-12C>G Single submitter
c.2316+18C>T Single submitter
c.2316+19G>A Single submitter
c.2317-15A>G Single submitter
c.2317-19A>G Single submitter
c.2317-5C>T Single submitter
c.2317-9G>C Single submitter
c.2439+15T>G Single submitter
c.2439+17A>T Single submitter
c.2439+20C>T Single submitter
c.2439+7G>C Single submitter
c.2439+9C>T Single submitter
c.2440-10T>C Single submitter
c.2440-13C>G Single submitter
c.2440-14G>C Single submitter
c.2440-14G>T Single submitter
c.2440-15T>C Single submitter
c.2440-8T>C Single submitter
c.2572-10TTTC[3] Single submitter
c.2572-12T>C Single submitter
c.2572-16C>T Single submitter
c.2572-18_2572-17insAA Single submitter
c.2700+13A>G Single submitter
c.2700+14A>C Single submitter
c.2700+16G>T Single submitter
c.2700+19T>C Single submitter
c.2700+20C>G Single submitter
c.2701-8G>T Single submitter
c.279+180A>G Single submitter
c.279+184T>C Single submitter
c.279+216G>A Single submitter
c.279+8A>C Single submitter
c.279+92_279+94del Single submitter
c.280-19G>A Single submitter
c.280-4A>T Single submitter
c.2952+11G>T Single submitter
c.2952+18G>C Single submitter
c.2952+20G>C Single submitter
c.2953-9C>A Single submitter
c.3127+19G>C Single submitter
c.3127+19G>T Single submitter
c.3127+7G>A Single submitter
c.3128-6A>G Single submitter
c.3128-8T>C Single submitter
c.3148+11A>G Single submitter
c.3148+18T>G Single submitter
c.3149-13T>A Single submitter
c.3149-15A>G Single submitter
c.3149-4T>A Single submitter
c.3293+14C>T Single submitter
c.3293+15C>T Single submitter
c.3293+17A>G Single submitter
c.3293+9C>G Single submitter
c.3294-10C>A Single submitter
c.3294-10C>T Single submitter
c.3294-17A>G Single submitter
c.3630-16C>T Single submitter
c.3630-18T>C Single submitter
c.3630-200C>T Single submitter
c.3630-4C>T Single submitter
c.4-13C>T Single submitter
c.493+11G>A Single submitter
c.493+19C>T Single submitter
c.493+20C>G Single submitter
c.494-11G>T Single submitter
c.494-14A>G Single submitter
c.494-15A>G Single submitter
c.494-17C>T Single submitter
c.494-5C>T Single submitter
c.54+16C>T Single submitter
c.618+12C>T Single submitter
c.618+19A>G Single submitter
c.619-10A>G Single submitter
c.619-134C>T Single submitter
c.619-14G>A Single submitter
c.619-15T>C Single submitter
c.619-20del Single submitter
c.619-9C>A Single submitter
c.790+17G>T Single submitter
c.790+7G>T Single submitter
c.791-13G>C Single submitter
c.791-20G>A Single submitter
c.791-7del Single submitter
c.83+14C>A Single submitter
c.83+16C>T Single submitter
c.83+7T>G Single submitter
c.84-14G>T Single submitter
c.84-16_84-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG Single submitter
c.84-16_84-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG Single submitter
c.84-16_84-15insGGG Single submitter
c.84-16T>A Single submitter
c.84-16T>C Single submitter
c.84-17_84-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA Single submitter
c.84-17_84-16insATTACGAACA Single submitter
c.84-18C>G Single submitter
c.84-18C>T Single submitter
c.84-19_84-18insAACAATAT Single submitter
c.84-19_84-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT Single submitter
c.84-19G>T Single submitter
c.84-20_84-19insATA Single submitter
c.84-20T>A Single submitter
c.84-20T>C Single submitter
c.965+15G>A Single submitter
c.965+16C>G Single submitter
c.965+16C>T Single submitter
c.966-12T>A Single submitter
c.966-13T>G Single submitter
c.966-18T>C Single submitter
c.966-20C>T Single submitter
c.-20T>C Single submitter
c.-2A>G Single submitter
c.*206A>G Single submitter congenital stationary night blindness 1C
p.Ala1005= Single submitter
p.Ala1008= Single submitter
p.Ala1079= Single submitter
p.Ala1271= Single submitter
p.Ala1356= Single submitter
p.Ala1371= Single submitter
p.Ala345= Single submitter
p.Ala352= Single submitter
p.Ala400= Single submitter
p.Ala444= Single submitter
p.Ala486= Single submitter
p.Ala675= Single submitter
p.Ala737= Single submitter
p.Arg1238= Single submitter
p.Arg1268= Single submitter
p.Arg1444= Single submitter
p.Arg1591fs Single submitter
p.Arg250= Single submitter
p.Arg405= Single submitter
p.Arg766= Single submitter
p.Asn1213= Single submitter
p.Asn1251= Single submitter
p.Asn1555= Single submitter
p.Asn1581fs Single submitter
p.Asn236= Single submitter
p.Asn582= Single submitter
p.Asn828= Single submitter
p.Asn868Thr Single submitter ⚠
p.Asn971Ser Single submitter
p.Asp1058= Single submitter
p.Asp1263= Single submitter
p.Asp1333= Single submitter
p.Asp1477= Single submitter
p.Asp376= Single submitter
p.Asp497Asn Single submitter ⚠
p.Asp538= Single submitter
p.Asp554= Single submitter
p.Asp623= Single submitter
p.Asp744= Single submitter
p.Asp818= Single submitter
p.Cys1052= Single submitter
p.Cys186= Single submitter
p.Gln1412Ter Single submitter
p.Gln1418= Single submitter
p.Gln689= Single submitter
p.Glu1013= Single submitter
p.Glu1302= Single submitter
p.Glu1330= Single submitter
p.Glu1397= Single submitter
p.Glu1491= Single submitter
p.Glu277= Single submitter
p.Glu320= Single submitter
p.Glu356= Single submitter

Uncertain significance 640

Showing the top 300 by review status; the full set is in the sitemap.

c.279+5G>A Multiple submitters
c.3127+18A>G Multiple submitters
c.494-35_518dup Multiple submitters
p.Ala1071Thr Multiple submitters ⚠
p.Ala1079Val Multiple submitters ⚠
p.Ala1240Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala1257= Multiple submitters
p.Ala1364Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1371Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala1453Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala150Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1534Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala244Thr Multiple submitters ⚠
p.Ala314Val Multiple submitters ⚠
p.Ala848Thr Multiple submitters congenital stationary night blindness 1C ⚠
p.Arg1006Cys Multiple submitters TRPM1-related disorder ⚠
p.Arg1063Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1268Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1270Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg1282Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1282Trp Multiple submitters
p.Arg1444Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg1542Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg249Gln Multiple submitters ⚠
p.Arg306His Multiple submitters ⚠
p.Arg329Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg405Cys Multiple submitters ⚠
p.Arg472Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg472Trp Multiple submitters retinitis pigmentosa
p.Arg573Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg577Trp Multiple submitters ⚠
p.Arg629Gln Multiple submitters ⚠
p.Arg656Gln Multiple submitters ⚠
p.Arg743Gln Multiple submitters ⚠
p.Arg766Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg766Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg789Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg789His Multiple submitters ⚠
p.Arg834Ile Multiple submitters Inborn genetic diseases ⚠
p.Arg874Trp Multiple submitters ⚠
p.Arg939His Multiple submitters Inborn genetic diseases ⚠
p.Arg963His Multiple submitters congenital stationary night blindness 1C ⚠
p.Arg96Cys Multiple submitters ⚠
p.Asp1263Asn Multiple submitters ⚠
p.Asp1308Val Multiple submitters ⚠
p.Asp1392fs Multiple submitters congenital stationary night blindness 1C
p.Asp1549Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1549His Multiple submitters congenital stationary night blindness 1C ⚠
p.Asp25Tyr Multiple submitters ⚠
p.Asp619Ala Multiple submitters ⚠
p.Asp619Asn Multiple submitters ⚠
p.Asp624Asn Multiple submitters ⚠
p.Asp624Glu Multiple submitters
p.Asp757Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp825Tyr Multiple submitters Inborn genetic diseases
p.Cys1324Arg Multiple submitters congenital stationary night blindness 1C ⚠
p.Gln1493Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln396Arg Multiple submitters Inborn genetic diseases
p.Glu1103Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu1244Gln Multiple submitters ⚠
p.Glu1302Lys Multiple submitters ⚠
p.Glu1303Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu1307Lys Multiple submitters congenital stationary night blindness 1C ⚠
p.Glu1385Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1491Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu245Lys Multiple submitters ⚠
p.Glu468Gln Multiple submitters Inborn genetic diseases
p.Glu680Lys Multiple submitters ⚠
p.Glu801Gly Multiple submitters Inborn genetic diseases ⚠
p.Gly1003Arg Multiple submitters congenital stationary night blindness 1C ⚠
p.Gly1318Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly1377Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly143Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly154Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly160Arg Multiple submitters Inborn genetic diseases
p.Gly279Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly279Ser Multiple submitters ⚠
p.Gly322Arg Multiple submitters
p.Gly322Glu Multiple submitters
p.Gly424Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly459Arg Multiple submitters Inborn genetic diseases
p.Gly506Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly606Arg Multiple submitters Inborn genetic diseases
p.Gly699Cys Multiple submitters Inborn genetic diseases
p.Gly770Ser Multiple submitters congenital stationary night blindness 1C ⚠
p.Gly839Arg Multiple submitters Inborn genetic diseases ⚠
p.His1594Arg Multiple submitters congenital stationary night blindness 1C ⚠
p.His38Tyr Multiple submitters ⚠
p.His511Gln Multiple submitters ⚠
p.Ile1048Val Multiple submitters Inborn genetic diseases
p.Ile1259Met Multiple submitters Inborn genetic diseases ⚠
p.Ile1382_Ser1383insTer Multiple submitters
p.Ile1429Thr Multiple submitters congenital stationary night blindness 1C ⚠
p.Ile256Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile323Met Multiple submitters Inborn genetic diseases ⚠
p.Ile336Val Multiple submitters Inborn genetic diseases ⚠
p.Ile413Val Multiple submitters Inborn genetic diseases ⚠
p.Ile474Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile503Phe Multiple submitters Inborn genetic diseases ⚠
p.Ile503Thr Multiple submitters ⚠
p.Ile553Thr Multiple submitters Inborn genetic diseases
p.Ile783Thr Multiple submitters ⚠
p.Ile850Met Multiple submitters Inborn genetic diseases ⚠
p.Ile885Leu Multiple submitters congenital stationary night blindness 1C ⚠
p.Ile957Val Multiple submitters ⚠
p.Leu1043Phe Multiple submitters ⚠
p.Leu1064Arg Multiple submitters congenital stationary night blindness 1C ⚠
p.Leu202Pro Multiple submitters ⚠
p.Leu386Arg Multiple submitters ⚠
p.Leu535Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu865Gln Multiple submitters Inborn genetic diseases ⚠
p.Leu893Val Multiple submitters Inborn genetic diseases ⚠
p.Lys102Arg Multiple submitters ⚠
p.Lys1458Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys1498Thr Multiple submitters ⚠
p.Lys1613Met Multiple submitters Inborn genetic diseases ⚠
p.Lys241Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys607Arg Multiple submitters ⚠
p.Lys613Glu Multiple submitters ⚠
p.Met1078Val Multiple submitters Inborn genetic diseases ⚠
p.Met1216Val Multiple submitters inherited retinal dystrophy ⚠
p.Met355Val Multiple submitters Inborn genetic diseases ⚠
p.Phe313Val Multiple submitters ⚠
p.Phe367Leu Multiple submitters ⚠
p.Phe416Leu Multiple submitters ⚠
p.Phe968Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1016Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro41Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro421Leu Multiple submitters ⚠
p.Pro429Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro442Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro780Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro837Leu Multiple submitters Inborn genetic diseases
p.Pro879Leu Multiple submitters ⚠
p.Ser1272Ala Multiple submitters ⚠
p.Ser1400Phe Multiple submitters ⚠
p.Ser1502Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser219Arg Multiple submitters ⚠
p.Ser411Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser48Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser751Gly Multiple submitters Inborn genetic diseases ⚠
p.Thr1278Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1323fs Multiple submitters
p.Thr1426Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1456Arg Multiple submitters congenital stationary night blindness 1C ⚠
p.Thr1489Met Multiple submitters ⚠
p.Thr1490Met Multiple submitters hereditary macular dystrophy ⚠
p.Thr208Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr389Lys Multiple submitters Inborn genetic diseases
p.Thr430Met Multiple submitters Inborn genetic diseases ⚠
p.Thr435Met Multiple submitters ⚠
p.Thr445Pro Multiple submitters congenital stationary night blindness 1C ⚠
p.Thr813= Multiple submitters
p.Trp1030Ser Multiple submitters ⚠
p.Trp420Arg Multiple submitters ⚠
p.Trp654Arg Multiple submitters Inborn genetic diseases ⚠
p.Trp884Cys Multiple submitters ⚠
p.Tyr1435Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr945Cys Multiple submitters congenital stationary night blindness 1C ⚠
p.Tyr948Cys Multiple submitters congenital stationary night blindness 1C ⚠
p.Val1096Gly Multiple submitters Inborn genetic diseases ⚠
p.Val1533Gly Multiple submitters ⚠
p.Val1602Leu Multiple submitters Inborn genetic diseases ⚠
p.Val170Ile Multiple submitters Inborn genetic diseases ⚠
p.Val196Met Multiple submitters
p.Val272Met Multiple submitters Inborn genetic diseases ⚠
p.Val391Ile Multiple submitters Inborn genetic diseases ⚠
p.Val465Met Multiple submitters Inborn genetic diseases ⚠
p.Val480Leu Multiple submitters Inborn genetic diseases ⚠
p.Val738Met Multiple submitters Inborn genetic diseases ⚠
p.Val870Ile Multiple submitters Inborn genetic diseases ⚠
p.Val886Asp Multiple submitters ⚠
p.Val927Met Multiple submitters ⚠
p.Val998Met Multiple submitters Inborn genetic diseases ⚠
c.1264-3C>G Single submitter
c.1572+3G>C Single submitter
c.1623+4A>G Single submitter
c.1623+5G>A Single submitter congenital stationary night blindness 1C
c.2087+5G>C Single submitter
c.2087+6T>C Single submitter congenital stationary night blindness 1C
c.2088-5C>T Single submitter
c.2316+4C>A Single submitter
c.2440-13C>A Single submitter congenital stationary night blindness 1C
c.2701-3C>T Single submitter
c.279+160C>T Single submitter
c.279+187A>C Single submitter
c.2953-14T>G Single submitter
c.3293+4C>T Single submitter
c.3293+5del Single submitter
c.790+6T>G Single submitter
c.791-13G>T Single submitter
c.791-5T>C Single submitter
c.84-16_84-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG Single submitter
c.84-3C>T Single submitter
c.-101A>G Single submitter congenital stationary night blindness 1C
c.-143G>C Single submitter congenital stationary night blindness 1C
c.*228C>T Single submitter congenital stationary night blindness 1C
c.*229G>A Single submitter congenital stationary night blindness 1C
c.*240G>T Single submitter congenital stationary night blindness 1C
c.*250T>C Single submitter congenital stationary night blindness 1C
c.*350C>G Single submitter congenital stationary night blindness 1C
c.*482A>G Single submitter congenital stationary night blindness 1C
c.*651C>T Single submitter congenital stationary night blindness 1C
c.*65A>G Single submitter congenital stationary night blindness 1C
c.*664A>G Single submitter congenital stationary night blindness 1C
p.Ala1045Gly Single submitter congenital stationary night blindness 1C ⚠
p.Ala1085Thr Single submitter ⚠
p.Ala1257Glu Single submitter ⚠
p.Ala149Gly Single submitter
p.Ala149Thr Single submitter ⚠
p.Ala150Val Single submitter ⚠
p.Ala1518Val Single submitter ⚠
p.Ala155Ser Single submitter ⚠
p.Ala1595Thr Single submitter Inborn genetic diseases ⚠
p.Ala307Asp Single submitter ⚠
p.Ala307Ser Single submitter ⚠
p.Ala384Ser Single submitter ⚠
p.Ala427Glu Single submitter Inborn genetic diseases ⚠
p.Ala434Asp Single submitter ⚠
p.Ala45Pro Single submitter Inborn genetic diseases ⚠
p.Ala45Thr Single submitter ⚠
p.Ala45Val Single submitter ⚠
p.Ala482Asp Single submitter
p.Ala490Ser Single submitter Inborn genetic diseases ⚠
p.Ala604Pro Single submitter ⚠
p.Ala650Ser Single submitter ⚠
p.Ala675Gly Single submitter ⚠
p.Ala717Val Single submitter ⚠
p.Ala819Pro Single submitter Inborn genetic diseases ⚠
p.Ala819Ser Single submitter Inborn genetic diseases ⚠
p.Ala894Glu Single submitter ⚠
p.Ala92Gly Single submitter ⚠
p.Ala936Glu Single submitter ⚠
p.Arg1063Gln Single submitter Inborn genetic diseases ⚠
p.Arg1224Lys Single submitter ⚠
p.Arg1238Gln Single submitter ⚠
p.Arg1238Ter Single submitter
p.Arg1261Lys Single submitter ⚠
p.Arg1270Gly Single submitter ⚠
p.Arg1296Gln Single submitter ⚠
p.Arg1320Gly Single submitter ⚠
p.Arg1444Pro Single submitter ⚠
p.Arg1460Lys Single submitter ⚠
p.Arg1466Gln Single submitter ⚠
p.Arg1466Trp Single submitter ⚠
p.Arg1542His Single submitter ⚠
p.Arg1542Pro Single submitter ⚠
p.Arg1580Thr Single submitter ⚠
p.Arg184Trp Single submitter ⚠
p.Arg249Gly Single submitter ⚠
p.Arg250Ser Single submitter ⚠
p.Arg28Gly Single submitter ⚠
p.Arg306Cys Single submitter ⚠
p.Arg306Ser Single submitter ⚠
p.Arg410Gln Single submitter Inborn genetic diseases ⚠
p.Arg568Cys Single submitter ⚠
p.Arg573Gln Single submitter ⚠
p.Arg577Gln Single submitter ⚠
p.Arg588Ser Single submitter congenital stationary night blindness 1C ⚠
p.Arg656Leu Single submitter ⚠
p.Arg874Gln Single submitter ⚠
p.Asn1049Thr Single submitter ⚠
p.Asn1091Lys Single submitter ⚠
p.Asn1109Lys Single submitter ⚠
p.Asn1109Ser Single submitter
p.Asn131Ile Single submitter Inborn genetic diseases ⚠
p.Asn131Lys Single submitter ⚠
p.Asn1555Lys Single submitter ⚠
p.Asn216Ser Single submitter ⚠
p.Asn236Asp Single submitter ⚠
p.Asn343Asp Single submitter ⚠
p.Asn343Ser Single submitter ⚠
p.Asn36Lys Single submitter congenital stationary night blindness 1C ⚠
p.Asn478Lys Single submitter ⚠
p.Asn481Lys Single submitter ⚠
p.Asn694Asp Single submitter
p.Asn768Lys Single submitter ⚠
p.Asp100Asn Single submitter ⚠
p.Asp1058Glu Single submitter congenital stationary night blindness ⚠
p.Asp1260Asn Single submitter ⚠
p.Asp1263Val Single submitter ⚠
p.Asp1387Glu Single submitter ⚠
p.Asp1416Val Single submitter ⚠
p.Asp1448Asn Single submitter ⚠
p.Asp1448His Single submitter ⚠
p.Asp1526Asn Single submitter ⚠
p.Asp1549Glu Single submitter ⚠
p.Asp201His Single submitter ⚠
p.Asp25Asn Single submitter ⚠
p.Asp309His Single submitter ⚠
p.Asp376Asn Single submitter congenital stationary night blindness 1C
p.Asp407Tyr Single submitter Inborn genetic diseases ⚠
p.Asp470Glu Single submitter Inborn genetic diseases ⚠
p.Asp623Asn Single submitter congenital stationary night blindness 1C ⚠
p.Asp682Glu Single submitter ⚠
p.Cys1275Ser Single submitter ⚠
p.Cys1454Tyr Single submitter ⚠
p.Cys1494Arg Single submitter Inborn genetic diseases ⚠
p.Cys186Phe Single submitter ⚠
p.Cys357Arg Single submitter ⚠