ABCA4 — 4237 ClinVar variants

All ClinVar germline ABCA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1377 flagged for review →

769 Pathogenic · 248 Pathogenic/Likely pathogenic · 378 Likely pathogenic · 320 Conflicting · 201 Benign · 35 Benign/Likely benign · 1198 Likely benign · 1088 Uncertain significance

Full ABCA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1377

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 128

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

ABCA4 p.Arg1108His Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Arg2030Gln Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Arg2038Trp Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Arg212Cys Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Arg572Gln Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Arg653Cys Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Asp507Tyr Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Pro1486Leu Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Ala1038Val Pathogenic/Likely pathogenic Multiple submitters
autosomal recessive ABCA4-related retinopathy
ABCA4 p.Ala1881Val Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 19
ABCA4 p.Ala2064Thr Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Ala2064Val Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Ala64Val Likely pathogenic Multiple submitters
Stargardt disease
ABCA4 p.Arg1108Cys Pathogenic/Likely pathogenic Multiple submitters
Inborn genetic diseases
ABCA4 p.Arg1129His Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg1368Cys Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg1443Cys Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 19
ABCA4 p.Arg1443His Pathogenic/Likely pathogenic Multiple submitters
ABCA4-related disorder
ABCA4 p.Arg1640Gln Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg1860Trp Pathogenic/Likely pathogenic Multiple submitters
retinal disorder
ABCA4 p.Arg187Cys Likely pathogenic Multiple submitters
age related macular degeneration 2
ABCA4 p.Arg187His Pathogenic Multiple submitters
cone-rod dystrophy 3
ABCA4 p.Arg18Gln Pathogenic Multiple submitters
Stargardt disease
ABCA4 p.Arg18Trp Pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg2040Gln Pathogenic/Likely pathogenic Multiple submitters
age related macular degeneration 2
ABCA4 p.Arg220Cys Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg24Cys Pathogenic/Likely pathogenic Multiple submitters
cone-rod dystrophy 3
ABCA4 p.Arg24His Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 19
ABCA4 p.Arg511Cys Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg537Cys Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg602Gln Pathogenic/Likely pathogenic Multiple submitters
ABCA4-related disorder
ABCA4 p.Arg653His Pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg653Leu Likely pathogenic Multiple submitters
cone-rod dystrophy 3
ABCA4 p.Arg785Gly Pathogenic/Likely pathogenic Multiple submitters
Stargardt disease
ABCA4 p.Arg943Trp Pathogenic/Likely pathogenic Multiple submitters
ABCA4-related disorder
ABCA4 p.Asp1532Asn Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Asp915Asn Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Gln1897His Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Gln841Pro Pathogenic/Likely pathogenic Multiple submitters
Stargardt disease
ABCA4 p.Glu1036Lys Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 19
ABCA4 p.Glu1399Lys Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Glu207Lys Pathogenic/Likely pathogenic Multiple submitters
Stargardt disease
ABCA4 p.Glu328Lys Likely pathogenic Multiple submitters
cone-rod dystrophy
ABCA4 p.Glu328Val Pathogenic/Likely pathogenic Multiple submitters
cone-rod dystrophy 3
ABCA4 p.Gly1050Asp Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.His1406Arg Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.His1406Tyr Pathogenic Multiple submitters
retinitis pigmentosa
ABCA4 p.Ile1409Val Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Leu510Ile Likely pathogenic Multiple submitters
retinitis pigmentosa
ABCA4 p.Met448Val Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Phe754Ser Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa
ABCA4 p.Pro1438Ala Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Pro143Leu Pathogenic/Likely pathogenic Multiple submitters
age related macular degeneration 2
ABCA4 p.Pro309Arg Pathogenic/Likely pathogenic Multiple submitters
cone-rod dystrophy 3
ABCA4 p.Pro870Leu Pathogenic/Likely pathogenic Multiple submitters
ABCA4-related disorder
ABCA4 p.Pro981Leu Likely pathogenic Multiple submitters
retinitis pigmentosa
ABCA4 p.Ser728Gly Likely pathogenic Multiple submitters
ABCA4 p.Ser765Thr Pathogenic Multiple submitters
isolated macular dystrophy
ABCA4 p.Thr2070Arg Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Thr983Ala Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Tyr850Cys Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Val675Ile Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Ala1073Thr Likely pathogenic Single submitter
ABCA4 p.Ala1375Thr Likely pathogenic Single submitter
ABCA4 p.Ala1859Thr Likely pathogenic Single submitter
inherited retinal dystrophy
ABCA4 p.Ala2064Gly Likely pathogenic Single submitter
ABCA4 p.Ala595Thr Likely pathogenic Single submitter
ABCA4 p.Ala763Gly Likely pathogenic Single submitter
ABCA4 p.Arg124Gly Likely pathogenic Single submitter
ABCA4 p.Arg1368His Likely pathogenic Single submitter
ABCA4 p.Arg2149Leu Likely pathogenic Single submitter
ABCA4 p.Arg2263Gly Likely pathogenic Single submitter
ABCA4 p.Arg290Gln Pathogenic Single submitter
ABCA4 p.Arg653Ser Pathogenic Single submitter
ABCA4 p.Asn1442Asp Likely pathogenic Single submitter
ABCA4 p.Asn1620His Likely pathogenic Single submitter
ABCA4 p.Asn1805Ser Likely pathogenic Single submitter
ABCA4 p.Asn413Tyr Pathogenic Single submitter
ABCA4 p.Asn415Ser Pathogenic Single submitter
ABCA4 p.Asn98Ser Likely pathogenic Single submitter
ABCA4 p.Asp1102Asn Likely pathogenic Single submitter
ABCA4 p.Asp155Val Pathogenic Single submitter
ABCA4 p.Cys764Phe Likely pathogenic Single submitter
ABCA4 p.Gln110Pro Likely pathogenic Single submitter
ABCA4 p.Gly1064Ser Pathogenic Single submitter
ABCA4 p.Gly1288Ser Likely pathogenic Single submitter
ABCA4 p.Gly1398Ser Likely pathogenic Single submitter
severe early-childhood-onset retinal dystrophy
ABCA4 p.Gly1507Ala Likely pathogenic Single submitter
ABCA4 p.Gly172Cys Likely pathogenic Single submitter
ABCA4 p.Gly991Arg Pathogenic Single submitter
ABCA4 p.His566Gln Pathogenic Single submitter
retinitis pigmentosa 19
ABCA4 p.His776Gln Likely pathogenic Single submitter
ABCA4 p.Ile2113Met Likely pathogenic Single submitter
severe early-childhood-onset retinal dystrophy
ABCA4 p.Ile410Met Pathogenic Single submitter
severe early-childhood-onset retinal dystrophy
ABCA4 p.Leu1627Pro Likely pathogenic Single submitter
inherited retinal dystrophy
ABCA4 p.Leu1970Ile Likely pathogenic Single submitter
ABCA4 p.Leu2026Met Likely pathogenic Single submitter
ABCA4 p.Leu2060Met Likely pathogenic Single submitter
ABCA4 p.Leu2060Val Likely pathogenic Single submitter
ABCA4 p.Leu9Phe Likely pathogenic Single submitter
ABCA4 p.Lys22Asn Pathogenic Single submitter
ABCA4 p.Lys59Arg Likely pathogenic Single submitter
ABCA4 p.Met1045Thr Likely pathogenic Single submitter
ABCA4 p.Met1690Val Likely pathogenic Single submitter
ABCA4 p.Met1778Leu Pathogenic Single submitter
ABCA4 p.Phe1440Val Likely pathogenic Single submitter
ABCA4 p.Phe503Ser Likely pathogenic Single submitter
severe early-childhood-onset retinal dystrophy
ABCA4 p.Pro1438Thr Likely pathogenic Single submitter
ABCA4 p.Pro143Ala Likely pathogenic Single submitter
ABCA4 p.Pro291Ala Pathogenic Single submitter
ABCA4 p.Pro309Gln Likely pathogenic Single submitter
ABCA4 p.Pro597Ser Likely pathogenic Single submitter
inherited retinal dystrophy
ABCA4 p.Pro799Leu Pathogenic Single submitter
inherited retinal dystrophy
ABCA4 p.Pro870Ala Likely pathogenic Single submitter
ABCA4 p.Pro981Ala Likely pathogenic Single submitter
ABCA4 p.Pro981Ser Likely pathogenic Single submitter
ABCA4 p.Ser1789Gly Likely pathogenic Single submitter
ABCA4 p.Thr417Ala Likely pathogenic Single submitter
ABCA4 p.Thr972Ala Likely pathogenic Single submitter
ABCA4 p.Thr972Ile Likely pathogenic Single submitter
ABCA4 p.Trp1449Cys Likely pathogenic Single submitter
inherited retinal dystrophy
ABCA4 p.Tyr1652Asp Pathogenic Single submitter
ABCA4 p.Val1393Ile Pathogenic Single submitter
ABCA4 p.Val935Ile Likely pathogenic Single submitter
ABCA4 p.Val989Phe Likely pathogenic Single submitter
ABCA4 p.Ala1881Gly Pathogenic No assertion criteria
Autosomal recessive retinitis pigmentosa
ABCA4 p.Asp507Gly Likely pathogenic No assertion criteria
inherited retinal dystrophy
ABCA4 p.Glu518Ala Likely pathogenic No assertion criteria
inherited retinal dystrophy

Predictors agree, ClinVar conflicts 123

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

ABCA4 p.Ala1190Thr Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Ala192Val Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Ala199Val Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Ala626Val Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Ala854Thr Conflicting Single submitter
cone-rod dystrophy 3
ABCA4 p.Ala967Val Conflicting Single submitter
age related macular degeneration 2
ABCA4 p.Arg107Gln Conflicting Single submitter
cone-rod dystrophy 3
ABCA4 p.Arg1097Ser Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Arg1489Ser Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Arg152Gln Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Arg1898His Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Arg1925Gly Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Arg1963Ser Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Arg2107Ser Conflicting Single submitter
ABCA4 p.Arg2263Gln Conflicting Single submitter
ABCA4 p.Arg226His Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Arg226Ser Conflicting Single submitter
retinitis pigmentosa 19
ABCA4 p.Arg255Cys Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Arg255His Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Arg264His Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Arg487Gln Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Arg511His Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Arg602Pro Conflicting Single submitter
ABCA4 p.Arg943Gln Conflicting Single submitter
ABCA4-related retinopathy
ABCA4 p.Asn1235Asp Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Asn2006Ser Conflicting Single submitter
severe early-childhood-onset retinal dystrophy
ABCA4 p.Asn2013Ser Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Asn247Ser Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Asp1102Gly Conflicting Single submitter
ABCA4 p.Asp1194Glu Conflicting Single submitter
ABCA4 p.Asp249Gly Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Asp493Asn Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Cys1455Arg Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Gln515Lys Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Glu471Lys Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Glu679Val Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Glu891Asp Conflicting Single submitter
ABCA4 p.Gly1006Arg Conflicting Single submitter
severe early-childhood-onset retinal dystrophy
ABCA4 p.Gly1006Asp Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Gly1065Asp Conflicting Single submitter
retinitis pigmentosa
ABCA4 p.Gly1183Cys Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Gly1203Arg Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Gly1448Arg Conflicting Single submitter
cone-rod dystrophy 3
ABCA4 p.Gly1558Arg Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Gly1559Glu Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Gly1591Arg Conflicting Single submitter
ABCA4-related retinopathy
ABCA4 p.Gly172Ser Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Gly1844Asp Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Gly1844Cys Conflicting Single submitter
cone-rod dystrophy 3
ABCA4 p.Gly1994Glu Conflicting Single submitter
ABCA4 p.Gly2100Glu Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Gly606Asp Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Gly690Val Conflicting Single submitter
Stargardt disease
ABCA4 p.Gly968Arg Conflicting Single submitter
ABCA4 p.His1865Tyr Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.His2032Tyr Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.His423Tyr Conflicting Single submitter
ABCA4 p.Ile1100Val Conflicting Single submitter
ABCA4 p.Ile1132Thr Conflicting Single submitter
cone-rod dystrophy
ABCA4 p.Ile151Thr Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Ile156Val Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Ile1687Phe Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Ile657Val Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Leu1390Pro Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Leu1829Pro Conflicting Single submitter
retinitis pigmentosa 19
ABCA4 p.Leu1943Pro Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Leu1970Phe Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Leu335Phe Conflicting Single submitter
ABCA4 p.Leu541Pro Conflicting Single submitter
Macular dystrophy
ABCA4 p.Leu702Pro Conflicting Single submitter
severe early-childhood-onset retinal dystrophy
ABCA4 p.Leu760Val Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Leu857Pro Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Lys2049Thr Conflicting Single submitter
retinitis pigmentosa
ABCA4 p.Lys2172Arg Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Lys223Gln Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Lys524Glu Conflicting Single submitter
ABCA4 p.Met1419Thr Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Met1733Thr Conflicting Single submitter
isolated macular dystrophy
ABCA4 p.Met1777Leu Conflicting Single submitter
ABCA4-related retinopathy
ABCA4 p.Met1882Thr Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Met1984Arg Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Met2143Arg Conflicting Single submitter
ABCA4 p.Met280Leu Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Met669Ile Conflicting Single submitter
age related macular degeneration 2
ABCA4 p.Phe1533Ser Conflicting Single submitter
Stargardt disease
ABCA4 p.Phe1880Leu Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Pro1088Ser Conflicting Single submitter
cone-rod dystrophy 3
ABCA4 p.Pro1407Leu Conflicting Single submitter
ABCA4 p.Pro1660Ser Conflicting Single submitter
retinitis pigmentosa
ABCA4 p.Pro1837Leu Conflicting Single submitter
ABCA4 p.Pro2103His Conflicting Single submitter
severe early-childhood-onset retinal dystrophy
ABCA4 p.Pro62Leu Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Ser1180Leu Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Ser1518Gly Conflicting Single submitter
ABCA4 p.Ser1642Arg Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Ser206Arg Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Ser2072Asn Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Ser2127Phe Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Ser2127Pro Conflicting Single submitter
age related macular degeneration 2
ABCA4 p.Ser2129Asn Conflicting Single submitter
age related macular degeneration 2
ABCA4 p.Ser361Tyr Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Thr1089Asn Conflicting Single submitter
Stargardt disease
ABCA4 p.Thr1979Ala Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Thr771Ser Conflicting Single submitter
ABCA4 p.Thr829Met Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Thr901Ala Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Thr904Met Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Thr971Pro Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Trp1724Cys Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Tyr106Phe Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Tyr1139Cys Conflicting Single submitter
severe early-childhood-onset retinal dystrophy
ABCA4 p.Tyr1770Asp Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Tyr856Asn Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Val1020Glu Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Val1083Glu Conflicting Single submitter
cone-rod dystrophy 3
ABCA4 p.Val1433Ile Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Val1617Met Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Val1686Met Conflicting Single submitter
ABCA4-related disorder
ABCA4 p.Val1883Ala Conflicting Single submitter
Inborn genetic diseases
ABCA4 p.Val1998Ile Conflicting Single submitter
inherited retinal dystrophy
ABCA4 p.Val513Ala Conflicting Single submitter
ABCA4 p.Val643Gly Conflicting Single submitter
cone-rod dystrophy 3
ABCA4 p.Val931Ala Conflicting Single submitter

Predictors lean, ClinVar uncertain 533

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 533

ABCA4 p.Glu1228Lys Uncertain significance Expert panel
ABCA4-related retinopathy
ABCA4 p.Pro2097Thr Uncertain significance Expert panel
ABCA4-related retinopathy
ABCA4 p.Val1693Ile Uncertain significance Expert panel
ABCA4-related retinopathy
ABCA4 p.Ala1255Val Uncertain significance Multiple submitters
ABCA4 p.Ala1287Val Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Ala1324Val Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Ala1326Gly Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Ala1506Thr Uncertain significance Multiple submitters
ABCA4 p.Ala1827Thr Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Ala2037Val Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Ala2147Thr Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Ala549Thr Uncertain significance Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Arg140Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Arg1585Gln Uncertain significance Multiple submitters
ABCA4 p.Arg1898Cys Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Arg1963Cys Uncertain significance Multiple submitters
ABCA4 p.Arg1963His Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Arg2269Gln Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg487Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Arg920His Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Asn269Ser Uncertain significance Multiple submitters
ABCA4 p.Asn529Ser Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Asp1204Asn Uncertain significance Multiple submitters
ABCA4-related retinopathy
ABCA4 p.Asp279Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Asp498Asn Uncertain significance Multiple submitters
ABCA4 p.Asp498Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Asp613Val Uncertain significance Multiple submitters
cone dystrophy
ABCA4 p.Cys1840Ser Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Cys748Tyr Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Gln1035Glu Uncertain significance Multiple submitters
ABCA4 p.Gln1169Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Gln1291Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Gln1513Glu Uncertain significance Multiple submitters
ABCA4-related retinopathy
ABCA4 p.Gln1667Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Gln2187Arg Uncertain significance Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Gln515Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Gln859Arg Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Glu1207Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Glu1336Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Glu1504Lys Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Glu1650Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Glu1758Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Glu1863Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Glu1942Gln Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Glu2031Lys Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Glu833Lys Uncertain significance Multiple submitters
ABCA4 p.Glu898Lys Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Gly1064Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Gly1803Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Gly1987Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Gly2162Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Gly221Arg Uncertain significance Multiple submitters
ABCA4 p.Gly825Arg Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Gly928Trp Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.His1406Asp Uncertain significance Multiple submitters
ABCA4 p.His142Tyr Uncertain significance Multiple submitters
ABCA4 p.His423Asn Uncertain significance Multiple submitters
ABCA4 p.His52Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Ile1377Val Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Ile2166Val Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Ile385Val Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Ile975Thr Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Leu1566Phe Uncertain significance Multiple submitters
cone-rod dystrophy 3
ABCA4 p.Leu1583Ile Uncertain significance Multiple submitters
ABCA4 p.Leu751Pro Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Leu980Phe Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Lys1476Glu Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Lys672Glu Uncertain significance Multiple submitters
ABCA4-related retinopathy
ABCA4 p.Met2151Ile Uncertain significance Multiple submitters
age related macular degeneration 2
ABCA4 p.Met316Thr Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Met494Val Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Met843Ile Uncertain significance Multiple submitters
ABCA4 p.Phe1416Leu Uncertain significance Multiple submitters
ABCA4 p.Phe1619Val Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Phe1697Cys Uncertain significance Multiple submitters
ABCA4-related retinopathy
ABCA4 p.Phe191Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Phe2148Leu Uncertain significance Multiple submitters
ABCA4 p.Pro1325Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Pro1464Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Pro258Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Ser1034Thr Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Ser1487Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Ser1581Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Ser709Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Ser827Thr Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Ser974Pro Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Thr1196Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Thr1989Ile Uncertain significance Multiple submitters
ABCA4-related retinopathy
ABCA4 p.Thr685Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Trp1724Ser Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Tyr2165Cys Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Val1192Ile Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Val1482Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Val1589Met Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Val1737Met Uncertain significance Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Val1854Leu Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Val2112Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Val2167Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Val248Met Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Val30Met Uncertain significance Multiple submitters
ABCA4 p.Val577Met Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Val598Met Uncertain significance Multiple submitters
ABCA4-related retinopathy
ABCA4 p.Val989Ile Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Ala1000Val Uncertain significance Single submitter
ABCA4 p.Ala1059Ser Uncertain significance Single submitter
ABCA4 p.Ala116Val Uncertain significance Single submitter
ABCA4 p.Ala1244Thr Uncertain significance Single submitter
ABCA4 p.Ala1290Thr Uncertain significance Single submitter
ABCA4 p.Ala1324Glu Uncertain significance Single submitter
ABCA4 p.Ala1402Ser Uncertain significance Single submitter
inherited retinal dystrophy
ABCA4 p.Ala1402Thr Uncertain significance Single submitter
ABCA4 p.Ala1575Val Uncertain significance Single submitter
Inborn genetic diseases
ABCA4 p.Ala1598Thr Uncertain significance Single submitter
ABCA4 p.Ala1626Asp Uncertain significance Single submitter
ABCA4 p.Ala1641Thr Uncertain significance Single submitter
ABCA4 p.Ala199Glu Uncertain significance Single submitter
Inborn genetic diseases
ABCA4 p.Ala199Thr Uncertain significance Single submitter
ABCA4 p.Ala222Val Uncertain significance Single submitter
ABCA4 p.Ala347Ser Uncertain significance Single submitter
ABCA4 p.Ala386Val Uncertain significance Single submitter
ABCA4 p.Ala389Val Uncertain significance Single submitter
ABCA4 p.Ala390Gly Uncertain significance Single submitter
ABCA4 p.Ala414Asp Uncertain significance Single submitter
ABCA4 p.Ala45Val Uncertain significance Single submitter
ABCA4 p.Ala491Thr Uncertain significance Single submitter
ABCA4 p.Ala609Pro Uncertain significance Single submitter
ABCA4 p.Ala628Thr Uncertain significance Single submitter
ABCA4 p.Ala662Glu Uncertain significance Single submitter
Inborn genetic diseases
ABCA4 p.Ala781Ser Uncertain significance Single submitter
Inborn genetic diseases
ABCA4 p.Ala781Thr Uncertain significance Single submitter
ABCA4 p.Arg1170Thr Uncertain significance Single submitter
Inborn genetic diseases
ABCA4 p.Arg1241Ser Uncertain significance Single submitter
Inborn genetic diseases
ABCA4 p.Arg1248Lys Uncertain significance Single submitter
ABCA4 p.Arg124His Uncertain significance Single submitter
ABCA4 p.Arg1300Leu Uncertain significance Single submitter
ABCA4 p.Arg145Thr Uncertain significance Single submitter
ABCA4 p.Arg1493Lys Uncertain significance Single submitter
ABCA4 p.Arg1517Cys Uncertain significance Single submitter
ABCA4-related disorder
ABCA4 p.Arg1517His Uncertain significance Single submitter
ABCA4 p.Arg1517Ser Uncertain significance Single submitter
ABCA4 p.Arg1820Gln Uncertain significance Single submitter
ABCA4 p.Arg1820Pro Uncertain significance Single submitter
ABCA4 p.Arg1820Trp Uncertain significance Single submitter
ABCA4 p.Arg1824Thr Uncertain significance Single submitter
ABCA4-related disorder
ABCA4 p.Arg1830Lys Uncertain significance Single submitter
severe early-childhood-onset retinal dystrophy
ABCA4 p.Arg1860Gln Uncertain significance Single submitter
ABCA4 p.Arg1963Leu Uncertain significance Single submitter
ABCA4 p.Arg20Gly Uncertain significance Single submitter
ABCA4 p.Arg355Lys Uncertain significance Single submitter
Inborn genetic diseases
ABCA4 p.Arg409Ser Uncertain significance Single submitter

Predictors split 593

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 593

ABCA4 p.Arg2107Cys Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Arg602Trp Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Gly1862Arg Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Gly863Ala Uncertain significance Expert panel
ABCA4-related retinopathy
ABCA4 p.Leu210Gln Likely pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Lys1081Asn Uncertain significance Expert panel
ABCA4-related retinopathy
ABCA4 p.Pro1511Leu Uncertain significance Expert panel
ABCA4-related retinopathy
ABCA4 p.Pro68Leu Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Thr1019Met Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Thr1526Met Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Tyr345Cys Pathogenic Expert panel
ABCA4-related retinopathy
ABCA4 p.Val2050Leu Likely benign Expert panel
ABCA4-related retinopathy
ABCA4 p.Ala1598Asp Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Ala1634Ser Uncertain significance Multiple submitters
ABCA4 p.Ala801Thr Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Arg1055Gln Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg1055Trp Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg1129Cys Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Arg1161Cys Likely pathogenic Multiple submitters
ABCA4-related disorder
ABCA4 p.Arg1161His Pathogenic/Likely pathogenic Multiple submitters
cone-rod dystrophy 3
ABCA4 p.Arg140Trp Uncertain significance Multiple submitters
ABCA4 p.Arg1585Trp Uncertain significance Multiple submitters
ABCA4 p.Arg1843Trp Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg226Cys Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg264Cys Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg333Trp Uncertain significance Multiple submitters
ABCA4 p.Arg487Trp Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg587Gly Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Arg785Cys Uncertain significance Multiple submitters
ABCA4 p.Arg943Leu Uncertain significance Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Asn1442Lys Pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Asn1707Lys Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Asn247Thr Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Asn582Ser Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Asn965Ser Pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Asn96Asp Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Asn96His Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Asp1124Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Asp1124Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Asp1873Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Asp586Gly Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Asp645Asn Pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Cys1490Tyr Pathogenic Multiple submitters
ABCA4-related disorder
ABCA4 p.Cys764Tyr Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Gln1356Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Gln1376His Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa
ABCA4 p.Gln636Lys Pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Gln957Arg Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Glu1666Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Glu2232Lys Uncertain significance Multiple submitters
ABCA4 p.Glu518Lys Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Glu531Gly Pathogenic/Likely pathogenic Multiple submitters
Stargardt disease
ABCA4 p.Glu53Val Uncertain significance Multiple submitters
ABCA4 p.Glu955Lys Uncertain significance Multiple submitters
ABCA4 p.Gly1032Arg Pathogenic/Likely pathogenic Multiple submitters
ABCA4 p.Gly1341Asp Uncertain significance Multiple submitters
ABCA4 p.Gly1439Asp Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Gly1507Arg Pathogenic/Likely pathogenic Multiple submitters
ABCA4-related disorder
ABCA4 p.Gly1507Trp Pathogenic/Likely pathogenic Multiple submitters
ABCA4 p.Gly1748Arg Pathogenic/Likely pathogenic Multiple submitters
Stargardt disease
ABCA4 p.Gly1931Ser Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Gly2073Ala Uncertain significance Multiple submitters
cone-rod dystrophy
ABCA4 p.Gly325Val Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Gly435Val Uncertain significance Multiple submitters
ABCA4 p.Gly631Arg Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Gly978Ser Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Gly991Val Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.His1838Asn Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.His52Gln Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Ile1130Thr Pathogenic/Likely pathogenic Multiple submitters
ABCA4 p.Ile1225Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Ile171Phe Uncertain significance Multiple submitters
ABCA4 p.Ile1802Val Uncertain significance Multiple submitters
ABCA4 p.Ile1834Thr Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Ile1846Thr Pathogenic/Likely pathogenic Multiple submitters
age related macular degeneration 2
ABCA4 p.Ile2142Met Uncertain significance Multiple submitters
ABCA4 p.Ile768Met Uncertain significance Multiple submitters
ABCA4 p.Ile777Asn Uncertain significance Multiple submitters
ABCA4 p.Ile994Val Uncertain significance Multiple submitters
retinitis pigmentosa
ABCA4 p.Leu1040Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Leu1201Arg Benign/Likely benign Multiple submitters
ABCA4-related disorder
ABCA4 p.Leu1213Phe Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Leu1430Pro Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Leu1784Arg Pathogenic Multiple submitters
Stargardt disease
ABCA4 p.Leu455Gln Pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Leu455Met Uncertain significance Multiple submitters
ABCA4 p.Leu539Val Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Leu563Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Leu790Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Leu844Arg Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Lys1033Glu Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Lys2160Glu Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Met2014Val Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Met708Val Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Phe1026Leu Uncertain significance Multiple submitters
age related macular degeneration 2
ABCA4 p.Phe1440Ser Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Phe254Leu Uncertain significance Multiple submitters
ABCA4 p.Phe337Leu Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Pro1510Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Pro1512Arg Uncertain significance Multiple submitters
ABCA4 p.Pro1649Ser Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Pro1869Leu Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Pro2090Leu Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Pro2174Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Pro927Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Pro940Arg Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Ser1071Leu Pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Ser1096Leu Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Ser1178Asn Uncertain significance Multiple submitters
ABCA4-related disorder
ABCA4 p.Ser1321Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Ser2255Ile Benign Multiple submitters
ABCA4-related disorder
ABCA4 p.Ser361Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Ser756Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Thr1187Met Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Thr1277Met Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Thr1346Met Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Thr2240Ala Pathogenic/Likely pathogenic Multiple submitters
ABCA4-related disorder
ABCA4 p.Thr366Ile Uncertain significance Multiple submitters
ABCA4 p.Thr959Ala Pathogenic/Likely pathogenic Multiple submitters
optic atrophy
ABCA4 p.Trp439Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Trp700Leu Uncertain significance Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Tyr1858Asn Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Tyr1858Cys Likely pathogenic Multiple submitters
ABCA4 p.Tyr340His Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Tyr340Ser Pathogenic/Likely pathogenic Multiple submitters
retinal disorder
ABCA4 p.Tyr639His Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Val1378Met Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Val1793Met Pathogenic/Likely pathogenic Multiple submitters
severe early-childhood-onset retinal dystrophy
ABCA4 p.Val1887Met Uncertain significance Multiple submitters
ABCA4 p.Val1896Asp Likely pathogenic Multiple submitters
retinitis pigmentosa
ABCA4 p.Val2112Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCA4 p.Val256Leu Uncertain significance Multiple submitters
inherited retinal dystrophy
ABCA4 p.Val552Ala Uncertain significance Multiple submitters
ABCA4 p.Val552Ile Benign/Likely benign Multiple submitters
inherited retinal dystrophy
ABCA4 p.Val935Ala Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
ABCA4 p.Ala1028Val Uncertain significance Single submitter
severe early-childhood-onset retinal dystrophy
ABCA4 p.Ala1073Val Conflicting Single submitter
ABCA4 p.Ala1075Thr Likely pathogenic Single submitter
ABCA4 p.Ala1357Gly Uncertain significance Single submitter
inherited retinal dystrophy
ABCA4 p.Ala1375Val Conflicting Single submitter
ABCA4 p.Ala1387Thr Uncertain significance Single submitter
ABCA4 p.Ala1506Val Uncertain significance Single submitter
inherited retinal dystrophy
ABCA4 p.Ala1634Thr Uncertain significance Single submitter
ABCA4 p.Ala1637Ser Uncertain significance Single submitter
Inborn genetic diseases
ABCA4 p.Ala1753Val Uncertain significance Single submitter
ABCA4 p.Ala1808Gly Uncertain significance Single submitter
inherited retinal dystrophy
ABCA4 p.Ala192Thr Conflicting Single submitter
ABCA4 p.Ala2037Thr Conflicting Single submitter
ABCA4 p.Ala204Thr Uncertain significance Single submitter
ABCA4 p.Ala2082Thr Likely pathogenic Single submitter

All ABCA4 variants

Pathogenic 769

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

c.1937+1G>A Expert panel ABCA4-related retinopathy
c.3328+2T>A Expert panel ABCA4-related retinopathy
c.4352+1G>A Expert panel ABCA4-related retinopathy
c.4773+3A>G Expert panel ABCA4-related retinopathy
c.5018+2T>C Expert panel ABCA4-related retinopathy
c.5196+1137G>A Expert panel ABCA4-related retinopathy
c.5460+1G>A Expert panel ABCA4-related retinopathy
c.5461-10T>C Expert panel ABCA4-related retinopathy
c.5714+5G>A Expert panel ABCA4-related retinopathy
p.Ala1773Val Expert panel ABCA4-related retinopathy
p.Ala1791fs Expert panel ABCA4-related retinopathy
p.Ala960fs Expert panel ABCA4-related retinopathy
p.Arg1108His Expert panel ABCA4-related retinopathy ⚠
p.Arg1129Leu Expert panel ABCA4-related retinopathy
p.Arg152Ter Expert panel ABCA4-related retinopathy
p.Arg2030Gln Expert panel ABCA4-related retinopathy ⚠
p.Arg2038Trp Expert panel ABCA4-related retinopathy ⚠
p.Arg2107Cys Expert panel ABCA4-related retinopathy ⚠
p.Arg212Cys Expert panel ABCA4-related retinopathy ⚠
p.Arg2139Pro Expert panel ABCA4-related retinopathy
p.Arg2139Trp Expert panel ABCA4-related retinopathy
p.Arg2149Ter Expert panel ABCA4-related retinopathy
p.Arg2201fs Expert panel ABCA4-related retinopathy
p.Arg408Ter Expert panel ABCA4-related retinopathy
p.Arg572Gln Expert panel ABCA4-related retinopathy ⚠
p.Arg572Pro Expert panel ABCA4-related retinopathy
p.Arg602Trp Expert panel ABCA4-related retinopathy ⚠
p.Arg653Cys Expert panel ABCA4-related retinopathy ⚠
p.Asp1918Val Expert panel ABCA4-related retinopathy
p.Asp279fs Expert panel ABCA4-related retinopathy
p.Asp507Tyr Expert panel ABCA4-related retinopathy ⚠
p.Cys2137Tyr Expert panel ABCA4-related retinopathy
p.Gln1003Ter Expert panel ABCA4-related retinopathy
p.Gln1315Ter Expert panel ABCA4-related retinopathy
p.Gln1332Ter Expert panel ABCA4-related retinopathy
p.Gln1852Ter Expert panel ABCA4-related retinopathy
p.Gln1926Ter Expert panel ABCA4-related retinopathy
p.Gln2190Ter Expert panel ABCA4-related retinopathy
p.Gln2220Ter Expert panel ABCA4-related retinopathy
p.Glu1399Ter Expert panel ABCA4-related retinopathy
p.Glu1452Ter Expert panel ABCA4-related retinopathy
p.Glu1574Ter Expert panel ABCA4-related retinopathy
p.Gly1862Arg Expert panel ABCA4-related retinopathy ⚠
p.Gly1961Glu Expert panel ABCA4-related retinopathy
p.Gly818Glu Expert panel ABCA4-related retinopathy
p.Gly963fs Expert panel ABCA4-related retinopathy
p.His2128Arg Expert panel ABCA4-related retinopathy
p.Leu1070fs Expert panel ABCA4-related retinopathy
p.Leu1138Pro Expert panel ABCA4-related retinopathy
p.Leu11Pro Expert panel ABCA4-related retinopathy
p.Leu1741fs Expert panel ABCA4-related retinopathy
p.Leu2241Pro Expert panel ABCA4-related retinopathy
p.Lys1033fs Expert panel ABCA4-related retinopathy
p.Lys1536Ter Expert panel ABCA4-related retinopathy
p.Met1Ile Expert panel ABCA4-related retinopathy
p.Met1Val Expert panel ABCA4-related retinopathy
p.Pro1380Leu Expert panel ABCA4-related retinopathy
p.Pro1486Leu Expert panel ABCA4-related retinopathy ⚠
p.Pro2097Ser Expert panel ABCA4-related retinopathy
p.Pro68Leu Expert panel ABCA4-related retinopathy ⚠
p.Ser1071fs Expert panel ABCA4-related retinopathy
p.Ser1642fs Expert panel ABCA4-related retinopathy
p.Thr1019Met Expert panel ABCA4-related retinopathy ⚠
p.Thr1519fs Expert panel ABCA4-related retinopathy
p.Thr1526Met Expert panel ABCA4-related retinopathy ⚠
p.Trp1618Ter Expert panel ABCA4-related retinopathy
p.Trp2110Ter Expert panel ABCA4-related retinopathy
p.Trp782Ter Expert panel ABCA4-related retinopathy
p.Tyr1156Ter Expert panel ABCA4-related retinopathy
p.Tyr345Cys Expert panel ABCA4-related retinopathy ⚠
p.Tyr808Ter Expert panel ABCA4-related retinopathy
p.Tyr872Ter Expert panel ABCA4-related retinopathy
c.1239+1G>C Multiple submitters inherited retinal dystrophy
c.161-1G>A Multiple submitters inherited retinal dystrophy
c.1760+2T>G Multiple submitters age related macular degeneration 2
c.2160+1G>C Multiple submitters
c.3050+1G>C Multiple submitters inherited retinal dystrophy
c.3050+5G>A Multiple submitters age related macular degeneration 2
c.3191-2A>G Multiple submitters inherited retinal dystrophy
c.4128+1G>A Multiple submitters severe early-childhood-onset retinal dystrophy
c.4253+5G>T Multiple submitters inherited retinal dystrophy
c.4539+1G>T Multiple submitters retinitis pigmentosa
c.4539+2001G>A Multiple submitters inherited retinal dystrophy
c.4539+2028C>T Multiple submitters inherited retinal dystrophy
c.4540-2A>G Multiple submitters inherited retinal dystrophy
c.4773+1G>A Multiple submitters inherited retinal dystrophy
c.4773+1G>T Multiple submitters retinal disorder
c.4848+2T>A Multiple submitters inherited retinal dystrophy
c.4848+2T>C Multiple submitters inherited retinal dystrophy
c.5196+1G>A Multiple submitters ABCA4-related disorder
c.5312+1G>A Multiple submitters severe early-childhood-onset retinal dystrophy
c.5312+2T>G Multiple submitters
c.5461-1G>T Multiple submitters severe early-childhood-onset retinal dystrophy
c.5584+6T>C Multiple submitters inherited retinal dystrophy
c.5714+1G>A Multiple submitters age related macular degeneration 2
c.5714+1G>C Multiple submitters retinitis pigmentosa 19
c.5898+1G>A Multiple submitters Stargardt disease
c.5898+2T>C Multiple submitters retinitis pigmentosa 40
c.5899-2del Multiple submitters inherited retinal dystrophy
c.6005+1G>A Multiple submitters cone dystrophy
c.6386+1G>A Multiple submitters inherited retinal dystrophy
c.6386+2C>G Multiple submitters inherited retinal dystrophy
c.67-1G>C Multiple submitters inherited retinal dystrophy
c.699_768+341del Multiple submitters retinitis pigmentosa
p.Ala1131fs Multiple submitters
p.Ala1357Glu Multiple submitters retinitis pigmentosa
p.Ala1357Thr Multiple submitters retinitis pigmentosa
p.Ala1794Pro Multiple submitters severe early-childhood-onset retinal dystrophy
p.Ala2216Val Multiple submitters inherited retinal dystrophy
p.Ala222fs Multiple submitters
p.Arg107Ter Multiple submitters inherited retinal dystrophy
p.Arg1097Ter Multiple submitters inherited retinal dystrophy
p.Arg1300Ter Multiple submitters ABCA4-related disorder
p.Arg187His Multiple submitters cone-rod dystrophy 3 ⚠
p.Arg18Gln Multiple submitters Stargardt disease ⚠
p.Arg18Trp Multiple submitters inherited retinal dystrophy ⚠
p.Arg2040Ter Multiple submitters cone-rod dystrophy 3
p.Arg2077Gln Multiple submitters inherited retinal dystrophy
p.Arg219Ter Multiple submitters inherited retinal dystrophy
p.Arg409fs Multiple submitters
p.Arg572Ter Multiple submitters inherited retinal dystrophy
p.Arg653His Multiple submitters inherited retinal dystrophy ⚠
p.Asn1318fs Multiple submitters ABCA4-related disorder
p.Asn1442Lys Multiple submitters inherited retinal dystrophy ⚠
p.Asn1632fs Multiple submitters ABCA4-related disorder
p.Asn965Ser Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Asn96fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Asn99fs Multiple submitters inherited retinal dystrophy
p.Asp2102Glu Multiple submitters Stargardt disease
p.Asp645Asn Multiple submitters inherited retinal dystrophy ⚠
p.Asp645Tyr Multiple submitters retinitis pigmentosa
p.Cys1490Tyr Multiple submitters ABCA4-related disorder ⚠
p.Cys230Ser Multiple submitters age related macular degeneration 2
p.Cys75Gly Multiple submitters retinitis pigmentosa
p.Gln1029Ter Multiple submitters inherited retinal dystrophy
p.Gln1135Ter Multiple submitters
p.Gln1291Ter Multiple submitters inherited retinal dystrophy
p.Gln1513fs Multiple submitters inherited retinal dystrophy
p.Gln1555fs Multiple submitters inherited retinal dystrophy
p.Gln285Ter Multiple submitters inherited retinal dystrophy
p.Gln294Ter Multiple submitters severe early-childhood-onset retinal dystrophy
p.Gln305Ter Multiple submitters inherited retinal dystrophy
p.Gln437fs Multiple submitters inherited retinal dystrophy
p.Gln612Ter Multiple submitters inherited retinal dystrophy
p.Gln625Ter Multiple submitters inherited retinal dystrophy
p.Gln636Lys Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Gln636Ter Multiple submitters inherited retinal dystrophy
p.Glu1087Lys Multiple submitters inherited retinal dystrophy
p.Glu1122Lys Multiple submitters inherited retinal dystrophy
p.Glu1252Ter Multiple submitters inherited retinal dystrophy
p.Glu1270Ter Multiple submitters inherited retinal dystrophy
p.Glu1501Ter Multiple submitters severe early-childhood-onset retinal dystrophy
p.Glu1650fs Multiple submitters
p.Glu328Ter Multiple submitters inherited retinal dystrophy
p.Glu898fs Multiple submitters Generalized choriocapillaris dystrophy
p.Glu898Ter Multiple submitters inherited retinal dystrophy
p.Glu89Ter Multiple submitters retinitis pigmentosa 19
p.Gly1032fs Multiple submitters inherited retinal dystrophy
p.Gly1972_Val1973insTer Multiple submitters ABCA4-related disorder
p.Gly485fs Multiple submitters Stargardt disease
p.Gly607Arg Multiple submitters cone-rod dystrophy 3
p.Gly618Arg Multiple submitters inherited retinal dystrophy
p.Gly690fs Multiple submitters inherited retinal dystrophy
p.His1370fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.His1406Tyr Multiple submitters retinitis pigmentosa ⚠
p.Ile284fs Multiple submitters
p.Leu1126Pro Multiple submitters inherited retinal dystrophy
p.Leu1157Ter Multiple submitters retinitis pigmentosa 19
p.Leu1388Pro Multiple submitters retinitis pigmentosa
p.Leu157Ter Multiple submitters
p.Leu1729Pro Multiple submitters inherited retinal dystrophy
p.Leu1784Arg Multiple submitters Stargardt disease ⚠
p.Leu1784Pro Multiple submitters cone-rod dystrophy 3
p.Leu2033Arg Multiple submitters retinitis pigmentosa 19
p.Leu2060Arg Multiple submitters cone-rod dystrophy 3
p.Leu2182_Phe2193del Multiple submitters inherited retinal dystrophy
p.Leu323fs Multiple submitters Stargardt disease
p.Leu455Gln Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Leu464Ter Multiple submitters severe early-childhood-onset retinal dystrophy
p.Leu980Ter Multiple submitters
p.Lys2049fs Multiple submitters retinitis pigmentosa 19
p.Lys2158fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Lys223fs Multiple submitters inherited retinal dystrophy
p.Lys583fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Met448fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Phe1417del Multiple submitters inherited retinal dystrophy
p.Phe2188Ser Multiple submitters cone-rod dystrophy 3
p.Phe481fs Multiple submitters
p.Phe873Leu Multiple submitters retinitis pigmentosa
p.Pro1335fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Pro1660_Leu1661insTer Multiple submitters cone-rod dystrophy 3
p.Pro32Leu Multiple submitters Stargardt disease
p.Pro944fs Multiple submitters inherited retinal dystrophy
p.Ser1071Leu Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Ser1099Ter Multiple submitters severe early-childhood-onset retinal dystrophy
p.Ser765Thr Multiple submitters isolated macular dystrophy ⚠
p.Thr1089Ile Multiple submitters inherited retinal dystrophy
p.Thr1346fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Thr2061fs Multiple submitters ABCA4-related disorder
p.Thr685_Leu686insTer Multiple submitters severe early-childhood-onset retinal dystrophy
p.Trp1408fs Multiple submitters inherited retinal dystrophy
p.Trp1461Ter Multiple submitters retinitis pigmentosa 19
p.Trp1479Ter Multiple submitters inherited retinal dystrophy
p.Trp339Ter Multiple submitters inherited retinal dystrophy
p.Trp41Ter Multiple submitters inherited retinal dystrophy
p.Trp431Ter Multiple submitters inherited retinal dystrophy
p.Trp439Ter Multiple submitters ABCA4-related disorder
p.Trp499Ter Multiple submitters cone-rod dystrophy 3
p.Trp589fs Multiple submitters cone-rod dystrophy 3
p.Trp700Ter Multiple submitters inherited retinal dystrophy
p.Tyr1027Ter Multiple submitters inherited retinal dystrophy
p.Tyr1243Ter Multiple submitters severe early-childhood-onset retinal dystrophy
p.Tyr1400Ter Multiple submitters inherited retinal dystrophy
p.Tyr1723Ter Multiple submitters inherited retinal dystrophy
p.Tyr2203Ter Multiple submitters inherited retinal dystrophy
p.Tyr362Ter Multiple submitters inherited retinal dystrophy
p.Tyr528Ter Multiple submitters inherited retinal dystrophy
p.Tyr639Ter Multiple submitters inherited retinal dystrophy
p.Val1682_Val1686del Multiple submitters retinitis pigmentosa 19
p.Val1887fs Multiple submitters age related macular degeneration 2
p.Val2062fs Multiple submitters
p.Val671fs Multiple submitters retinitis pigmentosa
c.1099+1G>C Single submitter
c.1099+2T>G Single submitter
c.1239+1G>A Single submitter
c.1240-1G>A Single submitter
c.1240-2A>G Single submitter
c.1356+1G>T Single submitter inherited retinal dystrophy
c.(1554+1_1555-1 Single submitter inherited retinal dystrophy
c.160+2T>C Single submitter inherited retinal dystrophy
c.161-1G>C Single submitter
c.161-23T>A Single submitter
c.1760+1G>A Single submitter
c.1760+2T>C Single submitter
c.1761-1G>A Single submitter
c.1937+1G>C Single submitter
c.1937+435C>G Single submitter
c.1938-619A>G Single submitter
c.2161-1G>A Single submitter severe early-childhood-onset retinal dystrophy
c.2161-2A>G Single submitter
c.2161-8G>A Single submitter
c.2382+1G>C Single submitter
c.2383-1G>A Single submitter
c.2587+1G>A Single submitter age related macular degeneration 2
c.2588-161_2615del Single submitter isolated macular dystrophy
c.2588-7_2588-5delinsGG Single submitter cone dystrophy
c.2743+1G>A Single submitter
c.2744-329_3328+339del Single submitter severe early-childhood-onset retinal dystrophy
c.(2918+1_2919-1 Single submitter inherited retinal dystrophy
c.2918+5G>A Single submitter
c.2919-2A>G Single submitter age related macular degeneration 2
c.303-2A>G Single submitter
c.3050+1G>A Single submitter
c.3050+2T>C Single submitter
c.3050+370C>T Single submitter
c.3329-2A>T Single submitter
c.3522+1G>T Single submitter
c.3522+5del Single submitter
c.3814-1G>A Single submitter
c.3814-2A>G Single submitter
c.3862+2T>C Single submitter
c.4254-2A>G Single submitter
c.4302_4352+128del Single submitter
c.4352+1G>C Single submitter
c.4353-1G>C Single submitter
c.4539+1100A>G Single submitter
c.4539+1106C>T Single submitter
c.4539+2T>G Single submitter inherited retinal dystrophy
c.4540-2A>C Single submitter
c.4634+1G>A Single submitter
c.4634+1G>C Single submitter
c.4667+2T>C Single submitter
c.4668-1G>A Single submitter
c.4668-1G>C Single submitter
c.4668-2A>G Single submitter inherited retinal dystrophy
c.4774-1G>A Single submitter
c.4774-1G>T Single submitter
c.4774-2A>G Single submitter
c.4848+1G>T Single submitter Stargardt disease
c.4849-1G>C Single submitter
c.4849-1G>T Single submitter
c.5018+1G>T Single submitter
c.5019-1G>A Single submitter
c.5019-1G>T Single submitter
c.5196+1216C>A Single submitter
c.5197-2A>C Single submitter
c.5312+2T>C Single submitter
c.5312+3A>T Single submitter
c.5461-10T>G Single submitter cone-rod dystrophy 3
c.570+2T>C Single submitter
c.571_580dup Single submitter Stargardt disease
c.571-1G>A Single submitter
c.5835+1G>T Single submitter
c.5836-1G>C Single submitter
c.5836-2A>G Single submitter
c.5836-2del Single submitter
c.5899-1G>A Single submitter
c.6005+2T>G Single submitter
c.6147+2T>A Single submitter
c.6147+2T>C Single submitter

Pathogenic/Likely pathogenic 248

c.1100-2A>T Multiple submitters
c.1357-2A>G Multiple submitters inherited retinal dystrophy
c.160+1G>A Multiple submitters inherited retinal dystrophy
c.160+5G>A Multiple submitters retinitis pigmentosa
c.160+5G>C Multiple submitters
c.1761-2A>G Multiple submitters severe early-childhood-onset retinal dystrophy
c.2160+1G>T Multiple submitters inherited retinal dystrophy
c.2382+1G>A Multiple submitters Stargardt disease
c.2382+4A>G Multiple submitters inherited retinal dystrophy
c.2587+2T>C Multiple submitters retinitis pigmentosa 19
c.302+1G>A Multiple submitters inherited retinal dystrophy
c.302+4A>C Multiple submitters retinitis pigmentosa 19
c.3329-1G>A Multiple submitters inherited retinal dystrophy
c.3522+1G>A Multiple submitters severe early-childhood-onset retinal dystrophy
c.3523-1G>A Multiple submitters severe early-childhood-onset retinal dystrophy
c.3523-2A>G Multiple submitters severe early-childhood-onset retinal dystrophy
c.4253+4C>T Multiple submitters Inborn genetic diseases
c.4253+5G>A Multiple submitters severe early-childhood-onset retinal dystrophy
c.4254-1G>C Multiple submitters inherited retinal dystrophy
c.4254-5T>A Multiple submitters Stargardt disease
c.4352+61G>A Multiple submitters severe early-childhood-onset retinal dystrophy
c.442+2T>A Multiple submitters severe early-childhood-onset retinal dystrophy
c.4539+2064C>T Multiple submitters severe early-childhood-onset retinal dystrophy
c.4634+1del Multiple submitters inherited retinal dystrophy
c.4667+1G>A Multiple submitters inherited retinal dystrophy
c.4848+1G>A Multiple submitters cone-rod dystrophy 3
c.4849-2A>G Multiple submitters retinitis pigmentosa
c.5018+5G>A Multiple submitters severe early-childhood-onset retinal dystrophy
c.5196+1056A>G Multiple submitters inherited retinal dystrophy
c.5196+2T>C Multiple submitters inherited retinal dystrophy
c.5196+3_5196+6del Multiple submitters retinitis pigmentosa
c.5460+1G>T Multiple submitters inherited retinal dystrophy
c.571-1G>T Multiple submitters
c.5714+1G>T Multiple submitters severe early-childhood-onset retinal dystrophy
c.6005+1G>T Multiple submitters inherited retinal dystrophy
c.6148-2A>G Multiple submitters inherited retinal dystrophy
c.6479+1G>A Multiple submitters inherited retinal dystrophy
c.6479+1G>C Multiple submitters severe early-childhood-onset retinal dystrophy
c.67-2A>G Multiple submitters inherited retinal dystrophy
c.6729+5_6729+19del Multiple submitters severe early-childhood-onset retinal dystrophy
c.6816+2T>A Multiple submitters inherited retinal dystrophy
c.6817-2A>G Multiple submitters severe early-childhood-onset retinal dystrophy
c.859-9T>C Multiple submitters inherited retinal dystrophy
p.Ala1038Val Multiple submitters autosomal recessive ABCA4-related retinopathy ⚠
p.Ala1598Asp Multiple submitters inherited retinal dystrophy ⚠
p.Ala1794Asp Multiple submitters inherited retinal dystrophy
p.Ala1881Val Multiple submitters retinitis pigmentosa 19 ⚠
p.Ala2064Thr Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Ala2064Val Multiple submitters inherited retinal dystrophy ⚠
p.Ala60Val Multiple submitters cone-rod dystrophy 3
p.Ala801Thr Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Arg1098Cys Multiple submitters inherited retinal dystrophy
p.Arg1108Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1108Leu Multiple submitters inherited retinal dystrophy
p.Arg1129Cys Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Arg1129His Multiple submitters inherited retinal dystrophy ⚠
p.Arg1161His Multiple submitters cone-rod dystrophy 3 ⚠
p.Arg1368Cys Multiple submitters inherited retinal dystrophy ⚠
p.Arg1443Cys Multiple submitters retinitis pigmentosa 19 ⚠
p.Arg1443His Multiple submitters ABCA4-related disorder ⚠
p.Arg1556Thr Multiple submitters inherited retinal dystrophy
p.Arg1640Gln Multiple submitters inherited retinal dystrophy ⚠
p.Arg1843Trp Multiple submitters inherited retinal dystrophy ⚠
p.Arg1860Trp Multiple submitters retinal disorder ⚠
p.Arg18Pro Multiple submitters inherited retinal dystrophy
p.Arg1925Ile Multiple submitters inherited retinal dystrophy
p.Arg2030Ter Multiple submitters ABCA4-related retinopathy
p.Arg2040Gln Multiple submitters age related macular degeneration 2 ⚠
p.Arg2077Gly Multiple submitters inherited retinal dystrophy
p.Arg2077Trp Multiple submitters cone-rod dystrophy 3
p.Arg2106Cys Multiple submitters ABCA4-related retinopathy
p.Arg2106His Multiple submitters severe early-childhood-onset retinal dystrophy
p.Arg220Cys Multiple submitters inherited retinal dystrophy ⚠
p.Arg24Cys Multiple submitters cone-rod dystrophy 3 ⚠
p.Arg24His Multiple submitters retinitis pigmentosa 19 ⚠
p.Arg511Cys Multiple submitters inherited retinal dystrophy ⚠
p.Arg537Cys Multiple submitters inherited retinal dystrophy ⚠
p.Arg602Gln Multiple submitters ABCA4-related disorder ⚠
p.Arg681Ter Multiple submitters age related macular degeneration 2
p.Arg785Gly Multiple submitters Stargardt disease ⚠
p.Arg943Trp Multiple submitters ABCA4-related disorder ⚠
p.Asn1799Asp Multiple submitters inherited retinal dystrophy
p.Asn1805Asp Multiple submitters age related macular degeneration 2
p.Asn1818fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Asn96Asp Multiple submitters inherited retinal dystrophy ⚠
p.Asn96His Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Asp1093Glu Multiple submitters inherited retinal dystrophy
p.Asp1102Tyr Multiple submitters inherited retinal dystrophy
p.Asp1532Asn Multiple submitters inherited retinal dystrophy ⚠
p.Asp342fs Multiple submitters inherited retinal dystrophy
p.Asp576His Multiple submitters inherited retinal dystrophy
p.Asp586Gly Multiple submitters inherited retinal dystrophy ⚠
p.Asp846Val Multiple submitters inherited retinal dystrophy
p.Asp915Asn Multiple submitters inherited retinal dystrophy ⚠
p.Cys1140Trp Multiple submitters ABCA4-related disorder
p.Cys1488Arg Multiple submitters inherited retinal dystrophy
p.Cys1488Phe Multiple submitters cone-rod dystrophy 3
p.Cys1488Tyr Multiple submitters inherited retinal dystrophy
p.Cys1502Phe Multiple submitters inherited retinal dystrophy
p.Cys2150Tyr Multiple submitters inherited retinal dystrophy
p.Cys54Tyr Multiple submitters cone-rod dystrophy 3
p.Cys764Tyr Multiple submitters inherited retinal dystrophy ⚠
p.Gln1376His Multiple submitters retinitis pigmentosa ⚠
p.Gln1523Ter Multiple submitters inherited retinal dystrophy
p.Gln1713Arg Multiple submitters
p.Gln1713Lys Multiple submitters inherited retinal dystrophy
p.Gln1897His Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Gln21Ter Multiple submitters severe early-childhood-onset retinal dystrophy
p.Gln447Ter Multiple submitters cone-rod dystrophy 3
p.Gln635Ter Multiple submitters inherited retinal dystrophy
p.Gln841Pro Multiple submitters Stargardt disease ⚠
p.Gln876Ter Multiple submitters severe early-childhood-onset retinal dystrophy
p.Glu1022Lys Multiple submitters ABCA4-related disorder
p.Glu1036Lys Multiple submitters retinitis pigmentosa 19 ⚠
p.Glu1087Asp Multiple submitters inherited retinal dystrophy
p.Glu1228Ter Multiple submitters inherited retinal dystrophy
p.Glu1399Lys Multiple submitters inherited retinal dystrophy ⚠
p.Glu189fs Multiple submitters inherited retinal dystrophy
p.Glu207Lys Multiple submitters Stargardt disease ⚠
p.Glu2096Gly Multiple submitters ABCA4-related disorder
p.Glu2096Lys Multiple submitters inherited retinal dystrophy
p.Glu2131Lys Multiple submitters inherited retinal dystrophy
p.Glu328Val Multiple submitters cone-rod dystrophy 3 ⚠
p.Glu531Gly Multiple submitters Stargardt disease ⚠
p.Glu616Lys Multiple submitters severe early-childhood-onset retinal dystrophy
p.Glu905fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Gly1032Arg Multiple submitters ⚠
p.Gly1050Asp Multiple submitters inherited retinal dystrophy ⚠
p.Gly1110fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Gly1136Glu Multiple submitters inherited retinal dystrophy
p.Gly1439Asp Multiple submitters inherited retinal dystrophy ⚠
p.Gly1507Arg Multiple submitters ABCA4-related disorder ⚠
p.Gly1507Trp Multiple submitters ⚠
p.Gly1748Arg Multiple submitters Stargardt disease ⚠
p.Gly1771Arg Multiple submitters inherited retinal dystrophy
p.Gly1961Arg Multiple submitters ABCA4-related disorder
p.Gly1975Arg Multiple submitters inherited retinal dystrophy
p.Gly1977Ser Multiple submitters Autosomal recessive ABCA4-related disorders
p.Gly2041Asp Multiple submitters Stargardt disease
p.Gly2074Val Multiple submitters ABCA4-related disorder
p.Gly550Arg Multiple submitters retinitis pigmentosa 19
p.Gly631Arg Multiple submitters inherited retinal dystrophy ⚠
p.Gly65Glu Multiple submitters cone-rod dystrophy 3
p.Gly72Arg Multiple submitters ABCA4-related disorder
p.Gly766del Multiple submitters retinitis pigmentosa 19
p.Gly978Ser Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Gly991Val Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.His1118Tyr Multiple submitters severe early-childhood-onset retinal dystrophy
p.His1406Arg Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.His1838Arg Multiple submitters inherited retinal dystrophy
p.His1838Asn Multiple submitters inherited retinal dystrophy ⚠
p.His1838Asp Multiple submitters ABCA4-related disorder
p.His1838Tyr Multiple submitters inherited retinal dystrophy
p.His2032Arg Multiple submitters inherited retinal dystrophy
p.Ile1130Thr Multiple submitters ⚠
p.Ile1409Val Multiple submitters inherited retinal dystrophy ⚠
p.Ile1775Asn Multiple submitters ABCA4-related disorder
p.Ile1846Thr Multiple submitters age related macular degeneration 2 ⚠
p.Ile619fs Multiple submitters inherited retinal dystrophy
p.Ile994fs Multiple submitters inherited retinal dystrophy
p.Leu1014Arg Multiple submitters severe early-childhood-onset retinal dystrophy
p.Leu1138His Multiple submitters inherited retinal dystrophy
p.Leu1430Pro Multiple submitters inherited retinal dystrophy ⚠
p.Leu1583Pro Multiple submitters ABCA4-related disorder
p.Leu1850Pro Multiple submitters inherited retinal dystrophy
p.Leu1940Pro Multiple submitters ABCA4-related disorder
p.Leu2026Pro Multiple submitters age related macular degeneration 2
p.Leu2027Phe Multiple submitters ABCA4-related disorder
p.Leu2033Pro Multiple submitters severe early-childhood-onset retinal dystrophy
p.Leu2109Pro Multiple submitters inherited retinal dystrophy
p.Leu210fs Multiple submitters ABCA4-related retinopathy
p.Leu2229Pro Multiple submitters retinitis pigmentosa
p.Leu244Pro Multiple submitters inherited retinal dystrophy
p.Leu296fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Leu37fs Multiple submitters inherited retinal dystrophy
p.Leu510Pro Multiple submitters
p.Leu541fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Leu611Pro Multiple submitters cone-rod dystrophy 3
p.Lys1437Ter Multiple submitters inherited retinal dystrophy
p.Lys1978Glu Multiple submitters age related macular degeneration 2
p.Lys2056Ter Multiple submitters inherited retinal dystrophy
p.Lys2160Glu Multiple submitters inherited retinal dystrophy ⚠
p.Lys678Asn Multiple submitters retinitis pigmentosa
p.Met1Thr Multiple submitters Stargardt disease
p.Met448Val Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Met669fs Multiple submitters inherited retinal dystrophy
p.Phe1440Ser Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Phe1880fs Multiple submitters retinitis pigmentosa
p.Phe418Ser Multiple submitters inherited retinal dystrophy
p.Phe525Ser Multiple submitters inherited retinal dystrophy
p.Phe608Ile Multiple submitters inherited retinal dystrophy
p.Phe655Cys Multiple submitters severe early-childhood-onset retinal dystrophy
p.Phe754Ser Multiple submitters retinitis pigmentosa ⚠
p.Phe938Ser Multiple submitters inherited retinal dystrophy
p.Pro1438Ala Multiple submitters inherited retinal dystrophy ⚠
p.Pro143fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Pro143Leu Multiple submitters age related macular degeneration 2 ⚠
p.Pro1660Leu Multiple submitters inherited retinal dystrophy
p.Pro1776Leu Multiple submitters Stargardt disease
p.Pro309Arg Multiple submitters cone-rod dystrophy 3 ⚠
p.Pro640Leu Multiple submitters inherited retinal dystrophy
p.Pro68Arg Multiple submitters ABCA4-related disorder
p.Pro870Leu Multiple submitters ABCA4-related disorder ⚠
p.Ser100Pro Multiple submitters inherited retinal dystrophy
p.Ser1096Leu Multiple submitters inherited retinal dystrophy ⚠
p.Ser1689Pro Multiple submitters inherited retinal dystrophy
p.Ser1696Asn Multiple submitters inherited retinal dystrophy
p.Ser2080fs Multiple submitters inherited retinal dystrophy
p.Ser336Cys Multiple submitters inherited retinal dystrophy
p.Ser34_Leu35del Multiple submitters ABCA4-related retinopathy
p.Ser445Arg Multiple submitters inherited retinal dystrophy
p.Ser728Arg Multiple submitters
p.Ser765Asn Multiple submitters Stargardt disease
p.Ser795Asn Multiple submitters severe early-childhood-onset retinal dystrophy
p.Ser84fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Thr1019Ala Multiple submitters ABCA4-related retinopathy
p.Thr1726fs Multiple submitters age related macular degeneration 2
p.Thr1979Ile Multiple submitters inherited retinal dystrophy
p.Thr1986_Gly1987insTer Multiple submitters retinitis pigmentosa 19
p.Thr2070Arg Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Thr2240Ala Multiple submitters ABCA4-related disorder ⚠
p.Thr959Ala Multiple submitters optic atrophy ⚠
p.Thr971Asn Multiple submitters cone-rod dystrophy 3
p.Thr972Asn Multiple submitters inherited retinal dystrophy
p.Thr983Ala Multiple submitters inherited retinal dystrophy ⚠
p.Thr983Ile Multiple submitters inherited retinal dystrophy
p.Trp1461Cys Multiple submitters severe early-childhood-onset retinal dystrophy
p.Trp1724Ter Multiple submitters ABCA4-related disorder
p.Trp31Ter Multiple submitters inherited retinal dystrophy
p.Trp663Ter Multiple submitters retinitis pigmentosa 19
p.Tyr1557Cys Multiple submitters inherited retinal dystrophy
p.Tyr1779Ter Multiple submitters inherited retinal dystrophy
p.Tyr1858Asn Multiple submitters inherited retinal dystrophy ⚠
p.Tyr245Ter Multiple submitters retinal disorder
p.Tyr340His Multiple submitters inherited retinal dystrophy ⚠
p.Tyr340Ser Multiple submitters retinal disorder ⚠
p.Tyr603His Multiple submitters inherited retinal dystrophy
p.Tyr954Ser Multiple submitters inherited retinal dystrophy
p.Val1764fs Multiple submitters inherited retinal dystrophy
p.Val1793Met Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Val1921Met Multiple submitters severe early-childhood-onset retinal dystrophy
p.Val2114= Multiple submitters retinitis pigmentosa 19
p.Val2236fs Multiple submitters cone-rod dystrophy 3
p.Val521fs Multiple submitters severe early-childhood-onset retinal dystrophy
p.Val630fs Multiple submitters retinitis pigmentosa 19
p.Val675Ile Multiple submitters inherited retinal dystrophy ⚠
p.Val767Asp Multiple submitters inherited retinal dystrophy
p.Val935Ala Multiple submitters inherited retinal dystrophy ⚠

Likely pathogenic 378

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

p.Cys2133Arg Expert panel ABCA4-related retinopathy
p.Glu830Ter Expert panel ABCA4-related retinopathy
p.Gly1886Glu Expert panel ABCA4-related retinopathy
p.Leu210Gln Expert panel ABCA4-related retinopathy ⚠
p.Pro1511His Expert panel ABCA4-related retinopathy
c.2588-1G>A Multiple submitters severe early-childhood-onset retinal dystrophy
c.3328+1G>A Multiple submitters severe early-childhood-onset retinal dystrophy
c.5898+5G>A Multiple submitters inherited retinal dystrophy
c.6282+1G>C Multiple submitters inherited retinal dystrophy
p.Ala64Val Multiple submitters Stargardt disease ⚠
p.Arg1161Cys Multiple submitters ABCA4-related disorder ⚠
p.Arg187Cys Multiple submitters age related macular degeneration 2 ⚠
p.Arg653Leu Multiple submitters cone-rod dystrophy 3 ⚠
p.Cys54Gly Multiple submitters age related macular degeneration 2
p.Cys75Tyr Multiple submitters
p.Gln635Lys Multiple submitters inherited retinal dystrophy
p.Gln957Arg Multiple submitters inherited retinal dystrophy ⚠
p.Glu328Lys Multiple submitters cone-rod dystrophy ⚠
p.Gly1091Glu Multiple submitters inherited retinal dystrophy
p.Gly2152Cys Multiple submitters inherited retinal dystrophy
p.Gly618Glu Multiple submitters inherited retinal dystrophy
p.Ile1812Asn Multiple submitters retinitis pigmentosa
p.Leu1250Pro Multiple submitters retinitis pigmentosa
p.Leu2035Pro Multiple submitters Stargardt disease
p.Leu2140Arg Multiple submitters inherited retinal dystrophy
p.Leu510Ile Multiple submitters retinitis pigmentosa ⚠
p.Leu844Arg Multiple submitters inherited retinal dystrophy ⚠
p.Pro1088Arg Multiple submitters severe early-childhood-onset retinal dystrophy
p.Pro62Ser Multiple submitters retinitis pigmentosa
p.Pro640Ser Multiple submitters severe early-childhood-onset retinal dystrophy
p.Pro981Leu Multiple submitters retinitis pigmentosa ⚠
p.Ser1789Arg Multiple submitters retinitis pigmentosa
p.Ser728Gly Multiple submitters ⚠
p.Ser795Arg Multiple submitters Generalized choriocapillaris dystrophy
p.Thr1981Arg Multiple submitters inherited retinal dystrophy
p.Trp2110Arg Multiple submitters retinal disorder
p.Tyr1858Cys Multiple submitters ⚠
p.Tyr850Cys Multiple submitters inherited retinal dystrophy ⚠
p.Val1896Asp Multiple submitters retinitis pigmentosa ⚠
c.1239+1G>T Single submitter retinitis pigmentosa 19
c.1240-8G>A Single submitter inherited retinal dystrophy
c.1248_1554+248del Single submitter Stargardt disease 3
c.1554+1G>A Single submitter
c.1555-1G>T Single submitter
c.1555-2A>C Single submitter Stargardt disease
c.160+2T>A Single submitter inherited retinal dystrophy
c.1938-1G>A Single submitter severe early-childhood-onset retinal dystrophy
c.1938-1G>C Single submitter
c.2161-6T>C Single submitter
c.2651_2653+2del Single submitter
c.2653+1G>C Single submitter
c.2653+2T>A Single submitter
c.2653+2T>C Single submitter
c.2654-1G>A Single submitter
c.2654-2A>C Single submitter cone-rod dystrophy 3
c.2654-2A>G Single submitter
c.2743_2743+24del Single submitter
c.2744-1G>T Single submitter
c.2744-2A>G Single submitter retinitis pigmentosa 19
c.2918+1G>A Single submitter
c.(2918+765_2918+775 Single submitter severe early-childhood-onset retinal dystrophy
c.2919-1G>C Single submitter
c.2919-2_2925del Single submitter
c.2919-826T>A Single submitter retinitis pigmentosa
c.302+2T>G Single submitter severe early-childhood-onset retinal dystrophy
c.303-3C>G Single submitter inherited retinal dystrophy
c.3051-1G>C Single submitter
c.3190+2_3190+18del Single submitter
c.3191-11T>A Single submitter inherited retinal dystrophy
c.3607+1G>A Single submitter inherited retinal dystrophy
c.3863-2A>G Single submitter
c.4128+2T>C Single submitter
c.4253+1G>A Single submitter
c.4254-1G>A Single submitter inherited retinal dystrophy
c.443-2A>G Single submitter Stargardt disease
c.443-2dup Single submitter retinitis pigmentosa
c.4539+2065C>G Single submitter
c.4540-65_4561delinsCGCTGTGTTCTCTGAGGCAATGAGACACCCACGTTAATTACCTTGGAACTTGAGGACTTATAAGTAGT Single submitter
c.4540-8T>A Single submitter
c.4774-1G>C Single submitter
c.5312+2_5312+3del Single submitter retinitis pigmentosa 19
c.5313-2A>G Single submitter inherited retinal dystrophy
c.5461-6T>C Single submitter severe early-childhood-onset retinal dystrophy
c.5461-6T>G Single submitter age related macular degeneration 2
c.5584+2T>C Single submitter
c.570+1_570+8del Single submitter
c.570+2T>G Single submitter inherited retinal dystrophy
c.571-2A>T Single submitter cone-rod dystrophy 3
c.5898+5del Single submitter
c.6006-1G>A Single submitter severe early-childhood-onset retinal dystrophy
c.6006-2A>G Single submitter
c.6148-698_6670del Single submitter severe early-childhood-onset retinal dystrophy
c.66+1del Single submitter
c.66+1G>C Single submitter
c.66+2T>C Single submitter
c.859-1G>C Single submitter
p.Ala1073Thr Single submitter ⚠
p.Ala1075Asp Single submitter severe early-childhood-onset retinal dystrophy
p.Ala1075Thr Single submitter ⚠
p.Ala1075Val Single submitter
p.Ala1219Val Single submitter
p.Ala1375Thr Single submitter ⚠
p.Ala1695Thr Single submitter
p.Ala1695Val Single submitter
p.Ala1781Glu Single submitter inherited retinal dystrophy
p.Ala1853Asp Single submitter inherited retinal dystrophy
p.Ala1859Thr Single submitter inherited retinal dystrophy ⚠
p.Ala1881Asp Single submitter
p.Ala1996Thr Single submitter
p.Ala2064Gly Single submitter ⚠
p.Ala2082Asp Single submitter
p.Ala2082Thr Single submitter ⚠
p.Ala2082Val Single submitter
p.Ala2216Glu Single submitter
p.Ala595Thr Single submitter ⚠
p.Ala60Glu Single submitter ⚠
p.Ala60Thr Single submitter
p.Ala763Asp Single submitter
p.Ala763Gly Single submitter ⚠
p.Ala801Val Single submitter
p.Arg1108fs Single submitter severe early-childhood-onset retinal dystrophy
p.Arg1129Gly Single submitter severe early-childhood-onset retinal dystrophy
p.Arg124Gly Single submitter ⚠
p.Arg1368His Single submitter ⚠
p.Arg1705Gly Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Arg1705Leu Single submitter inherited retinal dystrophy
p.Arg2040Pro Single submitter
p.Arg2077Leu Single submitter
p.Arg2149Leu Single submitter ⚠
p.Arg2149Pro Single submitter Stargardt disease
p.Arg2263Gly Single submitter ⚠
p.Arg2263Ter Single submitter
p.Arg24Gly Single submitter ⚠
p.Arg508Pro Single submitter inherited retinal dystrophy ⚠
p.Asn1436Ile Single submitter ⚠
p.Asn1442Asp Single submitter ⚠
p.Asn1620His Single submitter ⚠
p.Asn1805Ser Single submitter ⚠
p.Asn1974Ser Single submitter
p.Asn545fs Single submitter
p.Asn965Asp Single submitter inherited retinal dystrophy
p.Asn965Ile Single submitter cone-rod dystrophy 3
p.Asn965Lys Single submitter inherited retinal dystrophy
p.Asn98Ser Single submitter ⚠
p.Asp1079fs Single submitter inherited retinal dystrophy
p.Asp1093Val Single submitter
p.Asp1102Asn Single submitter ⚠
p.Asp1128Glu Single submitter
p.Asp1420His Single submitter ⚠
p.Asp1918Gly Single submitter
p.Asp2024Gly Single submitter ⚠
p.Asp2095Val Single submitter
p.Asp600Asn Single submitter ⚠
p.Asp645Gly Single submitter
p.Asp846Gly Single submitter severe early-childhood-onset retinal dystrophy
p.Cys1490Arg Single submitter ⚠
p.Cys1490Gly Single submitter inherited retinal dystrophy
p.Cys1797Arg Single submitter
p.Cys1840Phe Single submitter
p.Cys1967Tyr Single submitter
p.Cys2066Ter Single submitter
p.Cys2150Arg Single submitter severe early-childhood-onset retinal dystrophy
p.Cys230Tyr Single submitter
p.Cys641Ser Single submitter ⚠
p.Cys75Arg Single submitter
p.Cys764Phe Single submitter ⚠
p.Cys886fs Single submitter inherited retinal dystrophy
p.Gln1067Ter Single submitter severe early-childhood-onset retinal dystrophy
p.Gln110Pro Single submitter ⚠
p.Gln1376Pro Single submitter severe early-childhood-onset retinal dystrophy
p.Gln1897_Phe1901del Single submitter severe early-childhood-onset retinal dystrophy
p.Gln2220fs Single submitter severe early-childhood-onset retinal dystrophy
p.Gln2238Arg Single submitter inherited retinal dystrophy
p.Gln612Pro Single submitter age related macular degeneration 2
p.Gln617Pro Single submitter ⚠
p.Gln623Pro Single submitter ⚠
p.Gln820Pro Single submitter
p.Glu1022Asp Single submitter ⚠
p.Glu1057Ter Single submitter severe early-childhood-onset retinal dystrophy
p.Glu1447fs Single submitter inherited retinal dystrophy
p.Glu1520Gln Single submitter severe early-childhood-onset retinal dystrophy
p.Glu2096Asp Single submitter
p.Glu2233Val Single submitter severe early-childhood-onset retinal dystrophy
p.Glu599_Leu611del Single submitter Abnormality of the eye
p.Glu677Gln Single submitter ⚠
p.Glu677Lys Single submitter
p.Glu939Ter Single submitter
p.Gly1288Ser Single submitter ⚠
p.Gly1398Ser Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Gly1507Ala Single submitter ⚠
p.Gly1578fs Single submitter
p.Gly1653Glu Single submitter severe early-childhood-onset retinal dystrophy
p.Gly172Cys Single submitter ⚠
p.Gly1886Arg Single submitter inherited retinal dystrophy
p.Gly1949fs Single submitter inherited retinal dystrophy
p.Gly1972fs Single submitter inherited retinal dystrophy
p.Gly1975Val Single submitter severe early-childhood-onset retinal dystrophy
p.Gly1977Arg Single submitter inherited retinal dystrophy
p.Gly1977Cys Single submitter
p.Gly2015Val Single submitter severe early-childhood-onset retinal dystrophy
p.Gly2146Asp Single submitter
p.Gly2152Ser Single submitter severe early-childhood-onset retinal dystrophy
p.Gly550Glu Single submitter
p.Gly607Val Single submitter severe early-childhood-onset retinal dystrophy
p.Gly803Glu Single submitter
p.Gly818Arg Single submitter
p.Gly831Trp Single submitter ⚠
p.Gly851Asp Single submitter inherited retinal dystrophy
p.Gly966Glu Single submitter
p.Gly968Val Single submitter
p.Gly978Ala Single submitter ⚠
p.Gly978Asp Single submitter inherited retinal dystrophy
p.Gly985Arg Single submitter inherited retinal dystrophy
p.His1118Asn Single submitter
p.His1118Gln Single submitter
p.His776Gln Single submitter ⚠
p.Ile1084Thr Single submitter
p.Ile1272Thr Single submitter inherited retinal dystrophy
p.Ile203fs Single submitter inherited retinal dystrophy
p.Ile2113Met Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Ile2142Asn Single submitter
p.Ile2171fs Single submitter inherited retinal dystrophy
p.Ile571Ser Single submitter severe early-childhood-onset retinal dystrophy
p.Ile951Thr Single submitter
p.Ile958Asn Single submitter severe early-childhood-onset retinal dystrophy
p.Leu1030Gln Single submitter inherited retinal dystrophy ⚠
p.Leu1138Phe Single submitter
p.Leu1274Pro Single submitter
p.Leu1350Pro Single submitter
p.Leu157Trp Single submitter
p.Leu1627Pro Single submitter inherited retinal dystrophy ⚠
p.Leu1841Gln Single submitter
p.Leu1874Pro Single submitter
p.Leu1940Gln Single submitter
p.Leu1943Arg Single submitter
p.Leu1970Arg Single submitter
p.Leu1970Ile Single submitter ⚠
p.Leu1970Pro Single submitter inherited retinal dystrophy
p.Leu2026Met Single submitter ⚠
p.Leu2058Gln Single submitter
p.Leu2060Met Single submitter ⚠
p.Leu2060Pro Single submitter
p.Leu2060Val Single submitter ⚠
p.Leu253His Single submitter severe early-childhood-onset retinal dystrophy
p.Leu29Arg Single submitter inherited retinal dystrophy
p.Leu323Arg Single submitter cone-rod dystrophy 3 ⚠
p.Leu323Pro Single submitter
p.Leu510His Single submitter ⚠
p.Leu539fs Single submitter severe early-childhood-onset retinal dystrophy
p.Leu661Arg Single submitter
p.Leu70Pro Single submitter
p.Leu737Ser Single submitter
p.Leu737Ter Single submitter
p.Leu750Pro Single submitter
p.Leu760Pro Single submitter retinitis pigmentosa 19 ⚠
p.Leu797Pro Single submitter
p.Leu9Phe Single submitter ⚠
p.Lys1069Glu Single submitter
p.Lys13Glu Single submitter
p.Lys19Asn Single submitter
p.Lys2076Thr Single submitter
p.Lys2078Gln Single submitter severe early-childhood-onset retinal dystrophy
p.Lys59Arg Single submitter ⚠
p.Lys59Glu Single submitter
p.Met1045Thr Single submitter ⚠
p.Met1115Arg Single submitter cone-rod dystrophy 3
p.Met1115Lys Single submitter
p.Met1690Thr Single submitter optic atrophy
p.Met1690Val Single submitter ⚠
p.Met1777Arg Single submitter
p.Met1778Lys Single submitter severe early-childhood-onset retinal dystrophy
p.Met1984Leu Single submitter
p.Met2108_Asn2111delinsArgHis Single submitter severe early-childhood-onset retinal dystrophy
p.Met2143Lys Single submitter severe early-childhood-onset retinal dystrophy
p.Met573Ile Single submitter inherited retinal dystrophy ⚠
p.Met746Lys Single submitter
p.Phe1383fs Single submitter severe early-childhood-onset retinal dystrophy
p.Phe1440Val Single submitter ⚠
p.Phe1861fs Single submitter inherited retinal dystrophy
p.Phe250fs Single submitter inherited retinal dystrophy
p.Phe503Ser Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Phe553Val Single submitter
p.Phe608Leu Single submitter
p.Phe755Val Single submitter
p.Pro1088Leu Single submitter
p.Pro1407Ser Single submitter ⚠
p.Pro1438Leu Single submitter ⚠
p.Pro1438Thr Single submitter ⚠
p.Pro143Ala Single submitter ⚠
p.Pro1511Thr Single submitter
p.Pro309Gln Single submitter ⚠
p.Pro402Ala Single submitter Macular dystrophy ⚠
p.Pro597Ser Single submitter inherited retinal dystrophy ⚠
p.Pro62Thr Single submitter
p.Pro640Ala Single submitter inherited retinal dystrophy
p.Pro640Arg Single submitter
p.Pro640His Single submitter
p.Pro640Thr Single submitter severe early-childhood-onset retinal dystrophy
p.Pro775Ser Single submitter
p.Pro775Thr Single submitter ⚠

Conflicting classifications of pathogenicity 320

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

c.1099+12G>T Single submitter ABCA4-related disorder
c.1240-8G>C Single submitter ABCA4-related disorder
c.1937+15C>T Single submitter ABCA4-related disorder
c.1937+5G>A Single submitter inherited retinal dystrophy
c.2383-12G>A Single submitter ABCA4-related disorder
c.2588-12C>G Single submitter ABCA4-related disorder
c.2653+2del Single submitter severe early-childhood-onset retinal dystrophy
c.2654-8T>G Single submitter inherited retinal dystrophy
c.2743+11G>A Single submitter ABCA4-related disorder
c.2743+12A>C Single submitter ABCA4-related disorder
c.2744-5C>T Single submitter ABCA4-related disorder
c.2919-10T>C Single submitter ABCA4-related disorder
c.302+4A>G Single submitter cone-rod dystrophy 3
c.3051-15G>T Single submitter ABCA4-related disorder
c.3051-16T>A Single submitter
c.3051-19C>G Single submitter inherited retinal dystrophy
c.3328+18G>A Single submitter inherited retinal dystrophy
c.3329-11C>T Single submitter inherited retinal dystrophy
c.3523-9C>G Single submitter ABCA4-related disorder
c.3607+13C>T Single submitter ABCA4-related disorder
c.3813+7T>C Single submitter
c.4128+11C>T Single submitter inherited retinal dystrophy
c.4128+12G>A Single submitter ABCA4-related disorder
c.4128+16G>A Single submitter inherited retinal dystrophy
c.4129-17C>T Single submitter inherited retinal dystrophy
c.4253+43G>A Single submitter ABCA4-related disorder
c.4253+6C>T Single submitter
c.4352+13G>A Single submitter ABCA4-related disorder
c.4352+14C>T Single submitter ABCA4-related disorder
c.4352+15G>A Single submitter inherited retinal dystrophy
c.4352+5G>T Single submitter inherited retinal dystrophy
c.4353-4T>C Single submitter inherited retinal dystrophy
c.4540-2036C>A Single submitter severe early-childhood-onset retinal dystrophy
c.4540-5C>G Single submitter
c.4540-8T>C Single submitter
c.4668-15C>T Single submitter ABCA4-related disorder
c.4848+13T>C Single submitter ABCA4-related disorder
c.4849-4C>T Single submitter
c.5196+1136C>A Single submitter inherited retinal dystrophy
c.5312+11T>C Single submitter ABCA4-related disorder
c.5312+8G>A Single submitter
c.5714+5G>T Single submitter
c.5836-3C>A Single submitter retinitis pigmentosa
c.6282+9G>A Single submitter inherited retinal dystrophy
c.6730-19G>A Single submitter
c.769-3C>T Single submitter inherited retinal dystrophy
c.769-784C>T Single submitter inherited retinal dystrophy
c.859-14_859-13del Single submitter inherited retinal dystrophy
c.*136G>A Single submitter ABCA4-related disorder
p.Ala1021= Single submitter ABCA4-related disorder
p.Ala1073Val Single submitter ⚠
p.Ala1190Thr Single submitter ABCA4-related disorder ⚠
p.Ala1375Val Single submitter ⚠
p.Ala1506= Single submitter ABCA4-related disorder
p.Ala192Thr Single submitter ⚠
p.Ala192Val Single submitter ABCA4-related disorder ⚠
p.Ala199Val Single submitter ABCA4-related disorder ⚠
p.Ala2037Thr Single submitter ⚠
p.Ala2084Thr Single submitter inherited retinal dystrophy ⚠
p.Ala538= Single submitter ABCA4-related disorder
p.Ala626Val Single submitter Inborn genetic diseases ⚠
p.Ala854Thr Single submitter cone-rod dystrophy 3 ⚠
p.Ala967Val Single submitter age related macular degeneration 2 ⚠
p.Arg1002Gln Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Arg1002Trp Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Arg107Gln Single submitter cone-rod dystrophy 3 ⚠
p.Arg1097= Single submitter inherited retinal dystrophy
p.Arg1097Ser Single submitter inherited retinal dystrophy ⚠
p.Arg1098His Single submitter ⚠
p.Arg1137Gly Single submitter inherited retinal dystrophy ⚠
p.Arg124Cys Single submitter age related macular degeneration 2 ⚠
p.Arg1443= Single submitter ABCA4-related disorder
p.Arg1489Ser Single submitter inherited retinal dystrophy ⚠
p.Arg152Gln Single submitter ABCA4-related disorder ⚠
p.Arg1705Gln Single submitter ABCA4-related disorder ⚠
p.Arg1705Trp Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Arg1843Gln Single submitter ⚠
p.Arg1898His Single submitter Inborn genetic diseases ⚠
p.Arg1925Gly Single submitter inherited retinal dystrophy ⚠
p.Arg1963Ser Single submitter Inborn genetic diseases ⚠
p.Arg2038Gln Single submitter age related macular degeneration 2 ⚠
p.Arg2107His Single submitter Autosomal recessive ABCA4-related disorders ⚠
p.Arg2107Ser Single submitter ⚠
p.Arg212His Single submitter ABCA4-related disorder ⚠
p.Arg219Thr Single submitter inherited retinal dystrophy ⚠
p.Arg2263Gln Single submitter ⚠
p.Arg226His Single submitter ABCA4-related disorder ⚠
p.Arg226Leu Single submitter ABCA4-related retinopathy ⚠
p.Arg226Ser Single submitter retinitis pigmentosa 19 ⚠
p.Arg255Cys Single submitter inherited retinal dystrophy ⚠
p.Arg255His Single submitter inherited retinal dystrophy ⚠
p.Arg264His Single submitter inherited retinal dystrophy ⚠
p.Arg283Gly Single submitter inherited retinal dystrophy ⚠
p.Arg290= Single submitter
p.Arg290Trp Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Arg487Gln Single submitter ABCA4-related disorder ⚠
p.Arg500= Single submitter ABCA4-related disorder
p.Arg508Cys Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Arg511His Single submitter inherited retinal dystrophy ⚠
p.Arg537His Single submitter ABCA4-related disorder ⚠
p.Arg602Pro Single submitter ⚠
p.Arg681Gln Single submitter inherited retinal dystrophy ⚠
p.Arg811Cys Single submitter ⚠
p.Arg811His Single submitter ⚠
p.Arg943Gln Single submitter ABCA4-related retinopathy ⚠
p.Asn1235Asp Single submitter inherited retinal dystrophy ⚠
p.Asn1469= Single submitter
p.Asn1588Tyr Single submitter retinitis pigmentosa 19 ⚠
p.Asn1799Ser Single submitter retinal disorder ⚠
p.Asn1826= Single submitter Inborn genetic diseases
p.Asn1868Ile Single submitter ABCA4-related retinopathy ⚠
p.Asn2006Ser Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Asn2013Ser Single submitter Inborn genetic diseases ⚠
p.Asn247= Single submitter ABCA4-related disorder
p.Asn247Ser Single submitter inherited retinal dystrophy ⚠
p.Asn343= Single submitter ABCA4-related disorder
p.Asn380Lys Single submitter ABCA4-related disorder ⚠
p.Asn504His Single submitter ⚠
p.Asn96Lys Single submitter inherited retinal dystrophy ⚠
p.Asn98Lys Single submitter inherited retinal dystrophy ⚠
p.Asp1102Gly Single submitter ⚠
p.Asp1194Glu Single submitter ⚠
p.Asp155Asn Single submitter isolated macular dystrophy ⚠
p.Asp1995Val Single submitter ⚠
p.Asp249Gly Single submitter inherited retinal dystrophy ⚠
p.Asp403Val Single submitter retinitis pigmentosa ⚠
p.Asp493Asn Single submitter Inborn genetic diseases ⚠
p.Asp644= Single submitter ABCA4-related disorder
p.Cys1150Tyr Single submitter inherited retinal dystrophy ⚠
p.Cys1455Arg Single submitter inherited retinal dystrophy ⚠
p.Cys1502= Single submitter Inborn genetic diseases
p.Gln1060Pro Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Gln1376= Single submitter ABCA4-related disorder
p.Gln1412Ter Single submitter inherited retinal dystrophy
p.Gln1513Arg Single submitter inherited retinal dystrophy ⚠
p.Gln515Lys Single submitter Inborn genetic diseases ⚠
p.Gln623Arg Single submitter inherited retinal dystrophy ⚠
p.Gln957Lys Single submitter inherited retinal dystrophy ⚠
p.Glu1271Asp Single submitter optic atrophy ⚠
p.Glu1447Val Single submitter cone-rod dystrophy ⚠
p.Glu161Lys Single submitter inherited retinal dystrophy ⚠
p.Glu432Lys Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Glu471Lys Single submitter Inborn genetic diseases ⚠
p.Glu679Val Single submitter inherited retinal dystrophy ⚠
p.Glu891Asp Single submitter ⚠
p.Gly1006Arg Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Gly1006Asp Single submitter inherited retinal dystrophy ⚠
p.Gly1032= Single submitter ABCA4-related disorder
p.Gly1050Ser Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Gly1065Asp Single submitter retinitis pigmentosa ⚠
p.Gly1110= Single submitter
p.Gly1183Cys Single submitter ABCA4-related disorder ⚠
p.Gly1203Arg Single submitter ABCA4-related disorder ⚠
p.Gly1203Glu Single submitter ABCA4-related disorder ⚠
p.Gly1289= Single submitter ABCA4-related disorder
p.Gly1448Arg Single submitter cone-rod dystrophy 3 ⚠
p.Gly1558Arg Single submitter inherited retinal dystrophy ⚠
p.Gly1559Glu Single submitter inherited retinal dystrophy ⚠
p.Gly1591Arg Single submitter ABCA4-related retinopathy ⚠
p.Gly1623Val Single submitter ⚠
p.Gly172Ser Single submitter inherited retinal dystrophy ⚠
p.Gly1844Asp Single submitter ABCA4-related disorder ⚠
p.Gly1844Cys Single submitter cone-rod dystrophy 3 ⚠
p.Gly1862Ser Single submitter inherited retinal dystrophy ⚠
p.Gly1994Glu Single submitter ⚠
p.Gly2100Glu Single submitter ABCA4-related disorder ⚠
p.Gly606Asp Single submitter inherited retinal dystrophy ⚠
p.Gly607= Single submitter ABCA4-related disorder
p.Gly690Val Single submitter Stargardt disease ⚠
p.Gly968Arg Single submitter ⚠
p.His1215del Single submitter inherited retinal dystrophy
p.His1865Tyr Single submitter ABCA4-related disorder ⚠
p.His1941Pro Single submitter Stargardt disease ⚠
p.His2032Tyr Single submitter inherited retinal dystrophy ⚠
p.His423Tyr Single submitter ⚠
p.His914= Single submitter
p.Ile1100Val Single submitter ⚠
p.Ile1132Thr Single submitter cone-rod dystrophy ⚠
p.Ile1133Thr Single submitter inherited retinal dystrophy ⚠
p.Ile151Thr Single submitter inherited retinal dystrophy ⚠
p.Ile156= Single submitter ABCA4-related disorder
p.Ile1562Thr Single submitter Stargardt disease ⚠
p.Ile156Val Single submitter Inborn genetic diseases ⚠
p.Ile1687Phe Single submitter inherited retinal dystrophy ⚠
p.Ile1747= Single submitter ABCA4-related disorder
p.Ile2113= Single submitter
p.Ile2231= Single submitter ABCA4-related disorder
p.Ile385= Single submitter inherited retinal dystrophy
p.Ile657Val Single submitter inherited retinal dystrophy ⚠
p.Leu1062Ile Single submitter retinitis pigmentosa ⚠
p.Leu1221= Single submitter
p.Leu1390Pro Single submitter inherited retinal dystrophy ⚠
p.Leu1473Met Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Leu1580Ser Single submitter inherited retinal dystrophy ⚠
p.Leu1795Val Single submitter retinitis pigmentosa ⚠
p.Leu1829Pro Single submitter retinitis pigmentosa 19 ⚠
p.Leu1943Pro Single submitter inherited retinal dystrophy ⚠
p.Leu1970Phe Single submitter inherited retinal dystrophy ⚠
p.Leu200Pro Single submitter ⚠
p.Leu2241Val Single submitter inherited retinal dystrophy ⚠
p.Leu319Arg Single submitter inherited retinal dystrophy ⚠
p.Leu335Phe Single submitter ⚠
p.Leu421= Single submitter Late-onset cone-rod dystrophy
p.Leu541Pro Single submitter Macular dystrophy ⚠
p.Leu702Pro Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Leu760Val Single submitter ABCA4-related disorder ⚠
p.Leu857Pro Single submitter inherited retinal dystrophy ⚠
p.Lys1069Arg Single submitter ABCA4-related disorder ⚠
p.Lys1710Gln Single submitter ⚠
p.Lys2049Thr Single submitter retinitis pigmentosa ⚠
p.Lys2172Arg Single submitter inherited retinal dystrophy ⚠
p.Lys223Gln Single submitter inherited retinal dystrophy ⚠
p.Lys346Thr Single submitter inherited retinal dystrophy ⚠
p.Lys524Glu Single submitter ⚠
p.Lys583Asn Single submitter inherited retinal dystrophy ⚠
p.Met1419Thr Single submitter inherited retinal dystrophy ⚠
p.Met1733Thr Single submitter isolated macular dystrophy ⚠
p.Met1777Leu Single submitter ABCA4-related retinopathy ⚠
p.Met1777Val Single submitter Cone dystrophy and rod monochromatism ⚠
p.Met1882Thr Single submitter inherited retinal dystrophy ⚠
p.Met1984Arg Single submitter inherited retinal dystrophy ⚠
p.Met2143Arg Single submitter ⚠
p.Met280Leu Single submitter Inborn genetic diseases ⚠
p.Met448Lys Single submitter inherited retinal dystrophy ⚠
p.Met659Ile Single submitter ⚠
p.Met669Ile Single submitter age related macular degeneration 2 ⚠
p.Phe1533Ser Single submitter Stargardt disease ⚠
p.Phe1692= Single submitter ABCA4-related disorder
p.Phe1880Leu Single submitter ABCA4-related disorder ⚠
p.Phe191= Single submitter
p.Phe2193= Single submitter inherited retinal dystrophy
p.Phe718= Single submitter inherited retinal dystrophy
p.Pro1088Ser Single submitter cone-rod dystrophy 3 ⚠
p.Pro1380= Single submitter inherited retinal dystrophy
p.Pro1407Leu Single submitter ⚠
p.Pro1660Ser Single submitter retinitis pigmentosa ⚠
p.Pro1761Arg Single submitter inherited retinal dystrophy ⚠
p.Pro1780Ala Single submitter optic atrophy ⚠
p.Pro1837Leu Single submitter ⚠
p.Pro196Leu Single submitter inherited retinal dystrophy ⚠
p.Pro2103His Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Pro291Leu Single submitter inherited retinal dystrophy ⚠
p.Pro327= Single submitter ABCA4-related disorder
p.Pro564= Single submitter ABCA4-related disorder
p.Pro62Leu Single submitter inherited retinal dystrophy ⚠
p.Pro799= Single submitter inherited retinal dystrophy
p.Pro870Ser Single submitter ⚠
p.Ser1180= Single submitter ABCA4-related disorder
p.Ser1180Leu Single submitter Inborn genetic diseases ⚠
p.Ser1467= Single submitter
p.Ser1518Gly Single submitter ⚠
p.Ser1531= Single submitter ABCA4-related disorder
p.Ser1642Arg Single submitter inherited retinal dystrophy ⚠
p.Ser1642Ile Single submitter inherited retinal dystrophy ⚠
p.Ser1696Gly Single submitter ⚠
p.Ser1736= Single submitter inherited retinal dystrophy
p.Ser206= Single submitter Inborn genetic diseases
p.Ser206Arg Single submitter ABCA4-related disorder ⚠
p.Ser2072Asn Single submitter inherited retinal dystrophy ⚠
p.Ser2127Phe Single submitter inherited retinal dystrophy ⚠
p.Ser2127Pro Single submitter age related macular degeneration 2 ⚠
p.Ser2129Asn Single submitter age related macular degeneration 2 ⚠
p.Ser361Tyr Single submitter Inborn genetic diseases ⚠
p.Ser839= Single submitter ABCA4-related disorder
p.Thr1089Asn Single submitter Stargardt disease ⚠
p.Thr1253= Single submitter ABCA4-related disorder
p.Thr1253Met Single submitter ABCA4-related disorder ⚠
p.Thr1428Met Single submitter ABCA4-related disorder ⚠
p.Thr1519= Single submitter inherited retinal dystrophy
p.Thr1526= Single submitter ABCA4-related disorder
p.Thr1537Met Single submitter cone-rod dystrophy 3 ⚠
p.Thr1655= Single submitter inherited retinal dystrophy
p.Thr1979Ala Single submitter inherited retinal dystrophy ⚠
p.Thr417= Single submitter inherited retinal dystrophy
p.Thr716= Single submitter inherited retinal dystrophy
p.Thr716Met Single submitter inherited retinal dystrophy ⚠
p.Thr771Ser Single submitter ⚠
p.Thr829= Single submitter ABCA4-related disorder
p.Thr829Met Single submitter inherited retinal dystrophy ⚠
p.Thr897Ile Single submitter ABCA4-related disorder ⚠
p.Thr901Ala Single submitter ABCA4-related disorder ⚠
p.Thr904Met Single submitter Inborn genetic diseases ⚠
p.Thr959Ser Single submitter retinitis pigmentosa ⚠
p.Thr971Pro Single submitter inherited retinal dystrophy ⚠
p.Thr977Met Single submitter ABCA4-related retinopathy ⚠
p.Trp1724Cys Single submitter inherited retinal dystrophy ⚠
p.Trp339Gly Single submitter inherited retinal dystrophy ⚠
p.Tyr106Phe Single submitter inherited retinal dystrophy ⚠
p.Tyr1095= Single submitter ABCA4-related disorder
p.Tyr1139Cys Single submitter severe early-childhood-onset retinal dystrophy ⚠
p.Tyr1156= Single submitter
p.Tyr1538Phe Single submitter Inborn genetic diseases ⚠
p.Tyr1770Asp Single submitter inherited retinal dystrophy ⚠
p.Tyr345Ser Single submitter retinitis pigmentosa 19 ⚠
p.Tyr440Cys Single submitter ABCA4-related disorder ⚠
p.Tyr603Phe Single submitter ⚠
p.Tyr856Asn Single submitter inherited retinal dystrophy ⚠
p.Tyr97Cys Single submitter ⚠
p.Val1020Glu Single submitter inherited retinal dystrophy ⚠
p.Val1083Glu Single submitter cone-rod dystrophy 3 ⚠

Benign 201

c.1100-143G>A Multiple submitters
c.1100-186T>G Multiple submitters
c.1240-14C>T Multiple submitters ABCA4-related disorder
c.1240-65del Multiple submitters severe early-childhood-onset retinal dystrophy
c.1356+10dup Multiple submitters
c.1356+5_1356+6insC Multiple submitters
c.1761-54G>A Multiple submitters
c.2160+49T>C Multiple submitters
c.2654-47T>C Multiple submitters
c.2654-48G>C Multiple submitters
c.2744-124G>A Multiple submitters
c.302+101C>T Multiple submitters
c.302+20C>T Multiple submitters
c.302+26A>G Multiple submitters severe early-childhood-onset retinal dystrophy
c.3051-195C>A Multiple submitters
c.3190+101G>A Multiple submitters
c.3329-34A>G Multiple submitters
c.3862+106C>A Multiple submitters
c.3863-87C>A Multiple submitters
c.4128+156C>T Multiple submitters age related macular degeneration 2
c.4128+201C>T Multiple submitters
c.4129-119C>T Multiple submitters
c.4254-171C>T Multiple submitters
c.4254-38G>A Multiple submitters
c.4352+32A>G Multiple submitters
c.4352+54A>G Multiple submitters severe early-childhood-onset retinal dystrophy
c.4353-220G>A Multiple submitters
c.4353-230G>A Multiple submitters
c.4353-300C>T Multiple submitters
c.442+80G>T Multiple submitters
c.443-124A>G Multiple submitters
c.4774-17_4774-16del Multiple submitters age related macular degeneration 2
c.5018+8A>G Multiple submitters
c.5196+1015A>G Multiple submitters
c.5196+20G>A Multiple submitters
c.5197-95T>C Multiple submitters
c.5313-109A>G Multiple submitters
c.5460+62G>A Multiple submitters
c.5461-284C>T Multiple submitters
c.5461-291A>C Multiple submitters
c.5461-337G>A Multiple submitters
c.5585-70C>T Multiple submitters cone-rod dystrophy 3
c.570+20C>T Multiple submitters
c.570+80T>C Multiple submitters
c.5715-25A>C Multiple submitters age related macular degeneration 2
c.5835+122T>G Multiple submitters
c.5836-43C>A Multiple submitters age related macular degeneration 2
c.5898+186T>C Multiple submitters
c.5898+234G>A Multiple submitters
c.6006-16G>A Multiple submitters age related macular degeneration 2
c.6006-85G>A Multiple submitters
c.6282+176C>T Multiple submitters
c.6282+193C>T Multiple submitters
c.6283-347G>A Multiple submitters
c.6480-101G>A Multiple submitters
c.6480-102A>G Multiple submitters
c.6480-129G>C Multiple submitters
c.66+81A>G Multiple submitters
c.67-141G>A Multiple submitters
c.67-150G>A Multiple submitters
c.6729+51C>G Multiple submitters
c.6730-3T>C Multiple submitters ABCA4-related disorder
c.6816+28G>C Multiple submitters
c.6817-202T>A Multiple submitters
c.6817-85C>T Multiple submitters
c.768+62C>T Multiple submitters
c.769-32T>C Multiple submitters
c.769-86A>G Multiple submitters
p.Ala626= Multiple submitters cone-rod dystrophy 3
p.Asn79= Multiple submitters
p.Asp2095= Multiple submitters ABCA4-related disorder
p.Ile2023= Multiple submitters ABCA4-related disorder
p.Pro47= Multiple submitters cone-rod dystrophy 3
p.Ser2255Ile Multiple submitters ABCA4-related disorder ⚠
c.1099+123T>C Single submitter
c.1100-14T>C Single submitter
c.1239+49TG[13] Single submitter
c.1356+3_1356+4insG Single submitter
c.1356+6_1356+7insC Single submitter
c.1554+19del Single submitter
c.160+212G>T Single submitter
c.160+278G>A Single submitter
c.161-275G>A Single submitter
c.161-288G>A Single submitter
c.161-327C>A Single submitter
c.1761-37G>A Single submitter
c.1938-822_1938-808del Single submitter
c.2160+470T>C Single submitter
c.2161-139T>C Single submitter
c.2587+216C>A Single submitter
c.2653+204T>G Single submitter
c.2744-244G>A Single submitter
c.2744-262C>G Single submitter
c.2744-9del Single submitter
c.2744-9dup Single submitter
c.2918+115C>T Single submitter
c.302+330T>C Single submitter
c.303-71del Single submitter
c.3050+170T>C Single submitter
c.3050+328A>G Single submitter
c.3050+538_3050+541del Single submitter
c.3051-297dup Single submitter
c.3329-112del Single submitter
c.3522+10T>G Single submitter
c.3608-11del Single submitter
c.3608-277T>C Single submitter
c.3608-291T>G Single submitter
c.3862+215G>A Single submitter
c.4129-278G>T Single submitter
c.4253+106A>G Single submitter
c.4352+168A>G Single submitter
c.442+213T>C Single submitter
c.443-241del Single submitter
c.443-244C>G Single submitter
c.4539+1702A>G Single submitter
c.4539+1770C>A Single submitter
c.4539+2029C>G Single submitter
c.4540-2095G>C Single submitter
c.4540-2169A>G Single submitter
c.4774-18_4774-17delinsGT Single submitter
c.4774-18del Single submitter
c.4774-27T>C Single submitter
c.5018+129A>C Single submitter
c.5018+209C>A Single submitter
c.5019-176T>C Single submitter
c.5019-285A>G Single submitter
c.5196+1078del Single submitter
c.5196+1364GT[6] Single submitter
c.5197-186T>C Single submitter
c.5312+227T>C Single submitter
c.5312+290_5312+291insT Single submitter
c.5312+304A>G Single submitter
c.5313-193A>G Single submitter
c.5313-283T>G Single submitter
c.5460+168_5460+179del Single submitter
c.5460+222C>G Single submitter
c.5461-44dup Single submitter
c.5461-51del Single submitter
c.5584+123G>A Single submitter
c.5585-120G>A Single submitter
c.570+1697del Single submitter
c.570+1887C>T Single submitter
c.570+1888A>G Single submitter
c.570+2008C>T Single submitter
c.571-1949A>C Single submitter
c.5714+152del Single submitter
c.5714+321G>A Single submitter
c.5715-220C>G Single submitter
c.5715-300T>C Single submitter
c.5836-167C>T Single submitter
c.5899-183G>A Single submitter
c.6005+156_6005+160del Single submitter
c.6005+281C>T Single submitter
c.6005+328A>G Single submitter
c.6005+330del Single submitter
c.6006-8del Single submitter
c.6147+187G>C Single submitter
c.6147+219T>A Single submitter
c.6147+8del Single submitter
c.6148-184A>T Single submitter
c.6148-215G>A Single submitter
c.6148-242C>G Single submitter
c.6148-297C>T Single submitter
c.6148-389G>A Single submitter
c.6148-492T>C Single submitter
c.6148-655T>C Single submitter
c.6148-686G>A Single submitter
c.6148-745A>G Single submitter
c.6148-777T>C Single submitter
c.6148-794C>T Single submitter
c.6148-809C>T Single submitter
c.6283-3del Single submitter
c.6479+238A>G Single submitter
c.6479+269G>A Single submitter
c.6479+283T>C Single submitter
c.66+208G>A Single submitter
c.66+234A>G Single submitter
c.67-5del Single submitter
c.6729+312C>T Single submitter
c.6730-27C>G Single submitter
c.6816+127C>T Single submitter
c.768+12dup Single submitter
c.768+434A>G Single submitter
c.769-264T>C Single submitter
c.-34C>T Single submitter
c.-41G>T Single submitter
c.-94G>T Single submitter
c.+10C>A Single submitter
p.Asn78= Single submitter
p.Asp832= Single submitter
p.Glu128= Single submitter
p.Glu1501Asp Single submitter
p.Leu1894= Single submitter
p.Leu455= Single submitter
p.Leu962= Single submitter
p.Ser416= Single submitter
p.Thr224= Single submitter
p.Thr311= Single submitter
p.Val77Met Single submitter
c.4539+2061G>A No assertion criteria ABCA4-related disorder
c.859-529GTT[5] No assertion criteria ABCA4-related disorder

Benign/Likely benign 35

c.1356+11_1356+12insG Multiple submitters
c.1761-50G>A Multiple submitters
c.3050+16A>G Multiple submitters
c.3051-14T>A Multiple submitters ABCA4-related disorder
c.3191-20C>T Multiple submitters
c.3813+9G>C Multiple submitters
c.4253+13G>A Multiple submitters ABCA4-related disorder
c.5196+1159G>A Multiple submitters severe early-childhood-onset retinal dystrophy
c.5836-11G>A Multiple submitters ABCA4-related disorder
c.6282+7G>A Multiple submitters ABCA4-related disorder
c.67-11T>G Multiple submitters
c.6729+21C>T Multiple submitters
c.6729+61G>A Multiple submitters
c.859-11C>T Multiple submitters
c.-92C>T Multiple submitters ABCA4-related disorder
c.*134G>A Multiple submitters ABCA4-related disorder
c.*372A>G Multiple submitters ABCA4-related disorder
p.Ala1375= Multiple submitters
p.Arg1300Gln Multiple submitters ABCA4-related disorder
p.Asp2177Asn Multiple submitters ABCA4-related disorder
p.Gly606= Multiple submitters inherited retinal dystrophy
p.His423= Multiple submitters ABCA4-related disorder
p.Leu1201Arg Multiple submitters ABCA4-related disorder ⚠
p.Leu1769= Multiple submitters
p.Leu1938= Multiple submitters ABCA4-related disorder
p.Leu2085= Multiple submitters inherited retinal dystrophy
p.Leu988= Multiple submitters ABCA4-related disorder
p.Pro1401= Multiple submitters inherited retinal dystrophy
p.Pro1948= Multiple submitters ABCA4-related disorder
p.Pro1948Leu Multiple submitters
p.Ser1071= Multiple submitters
p.Ser1099= Multiple submitters
p.Thr243= Multiple submitters
p.Val2244= Multiple submitters ABCA4-related disorder
p.Val552Ile Multiple submitters inherited retinal dystrophy ⚠

Likely benign 1198

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

c.2383-13C>T Expert panel ABCA4-related retinopathy
p.Gln1904= Expert panel ABCA4-related retinopathy
p.Gly1398= Expert panel ABCA4-related retinopathy
p.Tyr2165= Expert panel ABCA4-related retinopathy
p.Val2050Leu Expert panel ABCA4-related retinopathy ⚠
p.Val2114Met Expert panel ABCA4-related retinopathy
c.1239+71T>A Multiple submitters
c.1760+169T>A Multiple submitters
c.1760+22G>T Multiple submitters
c.1938-773A>G Multiple submitters
c.2383-10C>G Multiple submitters
c.2588-33C>T Multiple submitters
c.3050+362_3050+370del Multiple submitters
c.3051-193T>C Multiple submitters
c.3328+125T>A Multiple submitters
c.3522+31C>A Multiple submitters
c.3814-162G>C Multiple submitters
c.4129-16G>A Multiple submitters
c.4129-70T>A Multiple submitters
c.4253+7G>A Multiple submitters
c.4667+133C>T Multiple submitters
c.4668-113G>A Multiple submitters
c.4668-38C>T Multiple submitters
c.5196+899C>T Multiple submitters
c.5197-93C>T Multiple submitters
c.5898+20C>T Multiple submitters
c.67-237C>T Multiple submitters
p.Ala1324= Multiple submitters inherited retinal dystrophy
p.Ala1357= Multiple submitters
p.Ala389= Multiple submitters
p.Ala788Thr Multiple submitters
p.Ala854= Multiple submitters
p.Arg1300= Multiple submitters inherited retinal dystrophy
p.Arg154= Multiple submitters inherited retinal dystrophy
p.Asp1121= Multiple submitters inherited retinal dystrophy
p.Asp1432= Multiple submitters
p.Asp2176= Multiple submitters inherited retinal dystrophy
p.Asp947= Multiple submitters inherited retinal dystrophy
p.Cys1797= Multiple submitters Inborn genetic diseases
p.Cys654= Multiple submitters
p.Cys779= Multiple submitters Inborn genetic diseases
p.Glu921= Multiple submitters
p.Gly1258= Multiple submitters
p.Leu1985= Multiple submitters
p.Leu323= Multiple submitters
p.Leu611= Multiple submitters
p.Pro1088= Multiple submitters
p.Pro1500= Multiple submitters
p.Pro1869= Multiple submitters Inborn genetic diseases
p.Pro2090= Multiple submitters inherited retinal dystrophy
p.Pro2174= Multiple submitters
p.Pro291= Multiple submitters
p.Ser591= Multiple submitters
p.Thr1346= Multiple submitters
p.Thr300= Multiple submitters
p.Thr904= Multiple submitters inherited retinal dystrophy
p.Tyr954= Multiple submitters inherited retinal dystrophy
p.Val1212= Multiple submitters
p.Val1297Ile Multiple submitters Inborn genetic diseases
c.1099+166G>A Single submitter
c.1099+80A>G Single submitter
c.1100-12G>A Single submitter
c.1100-16C>A Single submitter
c.1100-17C>T Single submitter
c.1100-20T>C Single submitter
c.1100-7C>G Single submitter
c.1100-8C>T Single submitter
c.1239+10C>A Single submitter
c.1239+10C>G Single submitter
c.1239+11A>T Single submitter
c.1239+15G>T Single submitter
c.1239+17G>A Single submitter
c.1239+18C>T Single submitter
c.1239+19T>G Single submitter
c.1239+49TG[10] Single submitter
c.1239+49TG[9] Single submitter
c.1239+66G>A Single submitter
c.1239+7T>C Single submitter
c.1239+9C>G Single submitter
c.1240-11T>C Single submitter
c.1240-12G>C Single submitter
c.1240-19G>T Single submitter
c.1240-20_1240-9dup Single submitter
c.1356+10G>A Single submitter
c.1356+10G>C Single submitter
c.1356+11_1356+12insC Single submitter
c.1356+11T>C Single submitter
c.1356+11T>G Single submitter
c.1356+12dup Single submitter
c.1356+13G>T Single submitter
c.1356+14dup Single submitter
c.1356+14G>A Single submitter
c.1356+16G>A Single submitter
c.1356+173G>A Single submitter
c.1356+20G>A Single submitter
c.1356+7_1356+8insA Single submitter
c.1356+7G>A Single submitter
c.1356+9_1356+10dup Single submitter
c.1356+9_1356+10insC Single submitter
c.1356+9_1356+10insT Single submitter
c.1357-110C>A Single submitter
c.1357-20C>T Single submitter
c.1357-4C>G Single submitter
c.1357-7T>C Single submitter
c.1554+11G>A Single submitter
c.1554+16C>A Single submitter
c.1554+16C>T Single submitter
c.1554+18C>A Single submitter
c.1554+287T>C Single submitter
c.1554+8G>C Single submitter
c.1555-18C>T Single submitter
c.1555-4G>A Single submitter
c.1555-7T>C Single submitter
c.1555-8C>G Single submitter
c.1555-9T>C Single submitter
c.160+14G>A Single submitter
c.160+16T>C Single submitter
c.160+17A>G Single submitter
c.160+8T>A Single submitter
c.160+8T>C Single submitter
c.160+9A>T Single submitter
c.161-19C>G Single submitter
c.161-20C>T Single submitter
c.161-9G>C Single submitter
c.1761-10_1761-9del Single submitter
c.1761-10G>C Single submitter
c.1761-14C>T Single submitter
c.1761-5C>G Single submitter
c.1761-64G>A Single submitter
c.1761-9T>C Single submitter
c.1937+12G>T Single submitter
c.1937+16G>A Single submitter
c.1937+17C>T Single submitter
c.1937+18G>A Single submitter
c.1937+18G>T Single submitter
c.1937+37C>T Single submitter
c.1937+8T>A Single submitter
c.1938-12C>T Single submitter
c.1938-14T>C Single submitter
c.1938-15C>T Single submitter
c.1938-17C>T Single submitter
c.1938-227G>A Single submitter
c.1938-5T>C Single submitter
c.1938-621G>T Single submitter
c.1938-6C>T Single submitter
c.2160+11T>A Single submitter
c.2160+11T>C Single submitter
c.2160+12G>A Single submitter
c.2160+13G>A Single submitter
c.2160+15G>A Single submitter
c.2160+19G>A Single submitter
c.2160+9A>G Single submitter
c.2161-10T>C Single submitter
c.2161-18A>G Single submitter
c.2161-20G>A Single submitter
c.2161-287dup Single submitter
c.2161-7dup Single submitter
c.2161-9T>C Single submitter
c.2382+10T>G Single submitter
c.2382+13G>A Single submitter
c.2382+14G>T Single submitter
c.2382+18G>A Single submitter
c.2382+20C>A Single submitter
c.2382+8C>G Single submitter
c.2383-10C>T Single submitter
c.2383-19C>T Single submitter
c.2383-6C>T Single submitter
c.2587+12C>T Single submitter
c.2587+15C>T Single submitter
c.2587+16T>C Single submitter
c.2587+18T>C Single submitter
c.2587+19A>G Single submitter
c.2587+20G>T Single submitter
c.2587+8T>A Single submitter
c.2588-10C>T Single submitter
c.2588-11T>C Single submitter
c.2588-12CT[4] Single submitter
c.2588-15T>C Single submitter
c.2588-18_2588-15del Single submitter
c.2588-18A>C Single submitter
c.2588-20T>C Single submitter
c.2588-6T>G Single submitter
c.2653+14A>T Single submitter
c.2653+16C>T Single submitter
c.2653+239T>C Single submitter
c.2653+23C>G Single submitter
c.2653+57C>T Single submitter
c.2653+9T>C Single submitter
c.2654-11G>A Single submitter
c.2654-16C>T Single submitter
c.2654-36C>T Single submitter
c.2654-6G>A Single submitter
c.2654-9T>C Single submitter
c.2743+10C>G Single submitter
c.2743+10C>T Single submitter
c.2743+13T>C Single submitter
c.2743+155G>T Single submitter
c.2743+17G>A Single submitter
c.2743+7C>T Single submitter
c.2744-13T>C Single submitter
c.2744-16T>C Single submitter
c.2744-19T>A Single submitter
c.2744-7dup Single submitter
c.2744-8C>T Single submitter
c.2918+195G>A Single submitter
c.2919-14C>G Single submitter
c.2919-14C>T Single submitter
c.2919-15G>A Single submitter
c.2919-16C>T Single submitter
c.2919-383C>T Single submitter
c.2919-826T>C Single submitter
c.2919-9G>A Single submitter
c.302+15C>T Single submitter
c.302+20_302+22del Single submitter
c.302+20C>G Single submitter
c.302+8T>C Single submitter
c.303-144G>C Single submitter
c.303-18G>A Single submitter
c.3050+18T>C Single submitter
c.3050+19G>A Single submitter
c.3050+509A>G Single submitter
c.3050+7G>A Single submitter
c.3051-15G>A Single submitter
c.3051-18G>A Single submitter
c.3051-18G>C Single submitter
c.3051-19C>T Single submitter
c.3190+16T>C Single submitter
c.3190+16T>G Single submitter
c.3190+19A>G Single submitter
c.3191-10G>A Single submitter
c.3191-19G>A Single submitter inherited retinal dystrophy
c.3191-3dup Single submitter
c.3191-7C>T Single submitter
c.3191-9T>C Single submitter
c.3328+13G>T Single submitter
c.3328+14C>T Single submitter
c.3328+16C>T Single submitter
c.3328+17A>C Single submitter
c.3328+645T>C Single submitter
c.3329-13C>T Single submitter
c.3329-14C>T Single submitter
c.3329-19C>T Single submitter
c.3329-7C>T Single submitter
c.3329-8C>A Single submitter
c.3329-8C>T Single submitter
c.3522+18G>A Single submitter
c.3522+18G>C Single submitter
c.3522+7G>A Single submitter
c.3523-12C>T Single submitter
c.3523-14T>A Single submitter
c.3523-15A>G Single submitter
c.3523-16C>T Single submitter
c.3523-17C>T Single submitter
c.3523-18C>T Single submitter
c.3523-19T>G Single submitter
c.3523-230G>T Single submitter
c.3523-234G>A Single submitter
c.3523-288C>T Single submitter
c.3523-28T>C Single submitter
c.3523-4G>T Single submitter
c.3523-85C>T Single submitter
c.3523-8T>G Single submitter
c.3607+12A>G Single submitter
c.3607+14G>A Single submitter
c.3607+14G>C Single submitter
c.3608-12T>C Single submitter
c.3608-17C>A Single submitter
c.3608-19G>T Single submitter
c.3608-20A>C Single submitter
c.3608-20A>G Single submitter
c.3608-7G>A Single submitter
c.3608-8T>C Single submitter
c.3813+11G>A Single submitter
c.3813+14T>C Single submitter
c.3813+9G>A Single submitter
c.3814-11C>T Single submitter
c.3814-23CT[2] Single submitter
c.3814-5G>A Single submitter
c.3814-6T>C Single submitter
c.3862+11G>A Single submitter
c.3862+12del Single submitter
c.3862+14G>A Single submitter
c.3862+232G>A Single submitter
c.3862+8G>A Single submitter
c.3863-11T>C Single submitter
c.3863-13T>A Single submitter
c.3863-13TC[5] Single submitter
c.3863-14A>G Single submitter
c.3863-15A>C Single submitter
c.3863-17T>A Single submitter
c.3863-64del Single submitter
c.3863-7A>G Single submitter
c.4128+11C>A Single submitter
c.4128+15C>G Single submitter
c.4128+15C>T Single submitter
c.4128+16G>C Single submitter
c.4128+16G>T Single submitter
c.4128+19_4128+20insGCTCC Single submitter
c.4128+8T>G Single submitter
c.4129-14C>A Single submitter

Uncertain significance 1088

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

c.2588-3del Expert panel ABCA4-related retinopathy
c.4128+15del Expert panel ABCA4-related retinopathy
c.5197-4C>T Expert panel ABCA4-related retinopathy
c.858+4dup Expert panel ABCA4-related retinopathy
p.Glu1228Lys Expert panel ABCA4-related retinopathy ⚠
p.Gly863Ala Expert panel ABCA4-related retinopathy ⚠
p.Ile1802= Expert panel ABCA4-related retinopathy
p.Lys1081Asn Expert panel ABCA4-related retinopathy ⚠
p.Pro1511Leu Expert panel ABCA4-related retinopathy ⚠
p.Pro2097Thr Expert panel ABCA4-related retinopathy ⚠
p.Trp1624Gly Expert panel ABCA4-related retinopathy
p.Val1693Ile Expert panel ABCA4-related retinopathy ⚠
c.1099+3A>C Multiple submitters inherited retinal dystrophy
c.1100-3C>T Multiple submitters ABCA4-related disorder
c.1356+4dup Multiple submitters severe early-childhood-onset retinal dystrophy
c.1356+5_1356+6insT Multiple submitters
c.1937+3G>A Multiple submitters inherited retinal dystrophy
c.302+68C>T Multiple submitters inherited retinal dystrophy
c.303-3C>T Multiple submitters cone-rod dystrophy 3
c.3862+6G>A Multiple submitters
c.5460+3G>A Multiple submitters Stargardt disease
c.5460+6C>T Multiple submitters ABCA4-related disorder
c.570+1798A>G Multiple submitters inherited retinal dystrophy
c.5714+4C>T Multiple submitters inherited retinal dystrophy
c.769-7A>G Multiple submitters
c.*10C>A Multiple submitters ABCA4-related disorder
p.Ala1255Val Multiple submitters ⚠
p.Ala1287Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1324Val Multiple submitters ABCA4-related disorder ⚠
p.Ala1326Gly Multiple submitters ABCA4-related disorder ⚠
p.Ala1506Thr Multiple submitters ⚠
p.Ala1634Ser Multiple submitters ⚠
p.Ala1827Thr Multiple submitters ABCA4-related disorder ⚠
p.Ala2037Val Multiple submitters inherited retinal dystrophy ⚠
p.Ala2147Thr Multiple submitters ABCA4-related disorder ⚠
p.Ala549Thr Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Arg1055Gln Multiple submitters inherited retinal dystrophy ⚠
p.Arg1055Trp Multiple submitters inherited retinal dystrophy ⚠
p.Arg140Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg140Trp Multiple submitters ⚠
p.Arg1585Gln Multiple submitters ⚠
p.Arg1585Trp Multiple submitters ⚠
p.Arg1898Cys Multiple submitters ABCA4-related disorder ⚠
p.Arg1963Cys Multiple submitters ⚠
p.Arg1963His Multiple submitters Inborn genetic diseases ⚠
p.Arg2269Gln Multiple submitters inherited retinal dystrophy ⚠
p.Arg2269Ter Multiple submitters severe early-childhood-onset retinal dystrophy
p.Arg226Cys Multiple submitters inherited retinal dystrophy ⚠
p.Arg264Cys Multiple submitters inherited retinal dystrophy ⚠
p.Arg333Trp Multiple submitters ⚠
p.Arg487Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg487Trp Multiple submitters inherited retinal dystrophy ⚠
p.Arg587Gly Multiple submitters inherited retinal dystrophy ⚠
p.Arg785Cys Multiple submitters ⚠
p.Arg920His Multiple submitters inherited retinal dystrophy ⚠
p.Arg943Leu Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Asn1707Lys Multiple submitters ABCA4-related disorder ⚠
p.Asn247Thr Multiple submitters inherited retinal dystrophy ⚠
p.Asn269Ser Multiple submitters ⚠
p.Asn529Ser Multiple submitters inherited retinal dystrophy ⚠
p.Asn582Ser Multiple submitters inherited retinal dystrophy ⚠
p.Asp1124Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1124Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1204Asn Multiple submitters ABCA4-related retinopathy ⚠
p.Asp1873Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp279Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp498Asn Multiple submitters ⚠
p.Asp498Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp613Val Multiple submitters cone dystrophy ⚠
p.Cys1840Ser Multiple submitters inherited retinal dystrophy ⚠
p.Cys748Tyr Multiple submitters inherited retinal dystrophy ⚠
p.Gln1035Glu Multiple submitters ⚠
p.Gln1169Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln1291Leu Multiple submitters Inborn genetic diseases ⚠
p.Gln1356Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln1513Glu Multiple submitters ABCA4-related retinopathy ⚠
p.Gln1667Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln2187Arg Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Gln515Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln859Arg Multiple submitters inherited retinal dystrophy ⚠
p.Glu1207Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1336Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1504Lys Multiple submitters ABCA4-related disorder ⚠
p.Glu1650Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1666Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1758Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu1863Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1942Gln Multiple submitters inherited retinal dystrophy ⚠
p.Glu2031Lys Multiple submitters inherited retinal dystrophy ⚠
p.Glu2232Lys Multiple submitters ⚠
p.Glu518Lys Multiple submitters ABCA4-related disorder ⚠
p.Glu53Val Multiple submitters ⚠
p.Glu833Lys Multiple submitters ⚠
p.Glu898Lys Multiple submitters ABCA4-related disorder ⚠
p.Glu955Lys Multiple submitters ⚠
p.Gly1064Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly1341Asp Multiple submitters ⚠
p.Gly1803Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly1931Ser Multiple submitters inherited retinal dystrophy ⚠
p.Gly1987Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly2073Ala Multiple submitters cone-rod dystrophy ⚠
p.Gly2162Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly221Arg Multiple submitters ⚠
p.Gly325Val Multiple submitters Inborn genetic diseases ⚠
p.Gly435Val Multiple submitters ⚠
p.Gly825Arg Multiple submitters inherited retinal dystrophy ⚠
p.Gly928Trp Multiple submitters inherited retinal dystrophy ⚠
p.Gly963= Multiple submitters ABCA4-related disorder
p.His1406Asp Multiple submitters ⚠
p.His142Tyr Multiple submitters ⚠
p.His423Asn Multiple submitters ⚠
p.His423Cys Multiple submitters Stargardt disease
p.His52Asp Multiple submitters Inborn genetic diseases ⚠
p.His52Gln Multiple submitters inherited retinal dystrophy ⚠
p.Ile1225Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1377Val Multiple submitters inherited retinal dystrophy ⚠
p.Ile171Phe Multiple submitters ⚠
p.Ile1802Val Multiple submitters ⚠
p.Ile1834Thr Multiple submitters inherited retinal dystrophy ⚠
p.Ile2142Met Multiple submitters ⚠
p.Ile2166Val Multiple submitters inherited retinal dystrophy ⚠
p.Ile385Val Multiple submitters Inborn genetic diseases ⚠
p.Ile768Met Multiple submitters ⚠
p.Ile777Asn Multiple submitters ⚠
p.Ile975Thr Multiple submitters inherited retinal dystrophy ⚠
p.Ile994Val Multiple submitters retinitis pigmentosa ⚠
p.Leu1040Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu1213Phe Multiple submitters inherited retinal dystrophy ⚠
p.Leu1566Phe Multiple submitters cone-rod dystrophy 3 ⚠
p.Leu1583Ile Multiple submitters ⚠
p.Leu455Met Multiple submitters ⚠
p.Leu539Val Multiple submitters ABCA4-related disorder ⚠
p.Leu563Gln Multiple submitters Inborn genetic diseases ⚠
p.Leu751Pro Multiple submitters inherited retinal dystrophy ⚠
p.Leu790Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu980Phe Multiple submitters inherited retinal dystrophy ⚠
p.Lys1033Glu Multiple submitters ABCA4-related disorder ⚠
p.Lys1476Glu Multiple submitters inherited retinal dystrophy ⚠
p.Lys672Glu Multiple submitters ABCA4-related retinopathy ⚠
p.Met2014Val Multiple submitters Inborn genetic diseases ⚠
p.Met2151Ile Multiple submitters age related macular degeneration 2 ⚠
p.Met316Thr Multiple submitters inherited retinal dystrophy ⚠
p.Met494Val Multiple submitters Inborn genetic diseases ⚠
p.Met708Val Multiple submitters Inborn genetic diseases ⚠
p.Met843Ile Multiple submitters ⚠
p.Phe1026Leu Multiple submitters age related macular degeneration 2 ⚠
p.Phe1416Leu Multiple submitters ⚠
p.Phe1619Val Multiple submitters Inborn genetic diseases ⚠
p.Phe1697Cys Multiple submitters ABCA4-related retinopathy ⚠
p.Phe191Ile Multiple submitters Inborn genetic diseases ⚠
p.Phe2148Leu Multiple submitters ⚠
p.Phe254Leu Multiple submitters ⚠
p.Phe337Leu Multiple submitters inherited retinal dystrophy ⚠
p.Pro1325Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1464Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1510Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1512Arg Multiple submitters ⚠
p.Pro1649Ser Multiple submitters ABCA4-related disorder ⚠
p.Pro1869Leu Multiple submitters inherited retinal dystrophy ⚠
p.Pro2090Leu Multiple submitters inherited retinal dystrophy ⚠
p.Pro2174Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro258Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro927Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro940Arg Multiple submitters ABCA4-related disorder ⚠
p.Ser1034Thr Multiple submitters ABCA4-related disorder ⚠
p.Ser1178Asn Multiple submitters ABCA4-related disorder ⚠
p.Ser1321Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser1487Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser1581Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser361Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser709Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser756Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser827Thr Multiple submitters ABCA4-related disorder ⚠
p.Ser974Pro Multiple submitters inherited retinal dystrophy ⚠
p.Thr1187Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1196Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr1277Met Multiple submitters inherited retinal dystrophy ⚠
p.Thr1346Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1989Ile Multiple submitters ABCA4-related retinopathy ⚠
p.Thr366Ile Multiple submitters ⚠
p.Thr685Ile Multiple submitters Inborn genetic diseases ⚠
p.Trp1724Ser Multiple submitters inherited retinal dystrophy ⚠
p.Trp439Cys Multiple submitters Inborn genetic diseases ⚠
p.Trp700Leu Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Tyr2165Cys Multiple submitters inherited retinal dystrophy ⚠
p.Tyr639His Multiple submitters Inborn genetic diseases ⚠
p.Val1192Ile Multiple submitters ABCA4-related disorder ⚠
p.Val1378Met Multiple submitters Inborn genetic diseases ⚠
p.Val1482Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1589Met Multiple submitters inherited retinal dystrophy ⚠
p.Val1737Met Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
p.Val1854Leu Multiple submitters inherited retinal dystrophy ⚠
p.Val1887Met Multiple submitters ⚠
p.Val2112Ile Multiple submitters Inborn genetic diseases ⚠
p.Val2112Leu Multiple submitters Inborn genetic diseases ⚠
p.Val2167Ile Multiple submitters Inborn genetic diseases ⚠
p.Val248Met Multiple submitters Inborn genetic diseases ⚠
p.Val256Leu Multiple submitters inherited retinal dystrophy ⚠
p.Val30Met Multiple submitters ⚠
p.Val552Ala Multiple submitters ⚠
p.Val577Met Multiple submitters inherited retinal dystrophy ⚠
p.Val598Met Multiple submitters ABCA4-related retinopathy ⚠
p.Val989Ile Multiple submitters ABCA4-related disorder ⚠
c.1099+10C>G Single submitter
c.1554+5G>A Single submitter
c.1554+6G>C Single submitter
c.1555-10CT[2] Single submitter
c.1555-1278G>A Single submitter
c.1555-15T>A Single submitter
c.161-545G>A Single submitter
c.1937+3G>C Single submitter
c.1937+4A>T Single submitter
c.1938-18T>C Single submitter
c.1938-621G>A Single submitter inherited retinal dystrophy
c.2383-13C>A Single submitter
c.2383-6C>G Single submitter
c.2588-7_2588-6delinsGG Single submitter
c.2653+5G>A Single submitter
c.2654-3C>A Single submitter
c.2654-7G>A Single submitter
c.2744-402G>A Single submitter severe early-childhood-onset retinal dystrophy
c.302+5G>C Single submitter
c.302+6T>A Single submitter
c.302+6T>G Single submitter inherited retinal dystrophy
c.303-19T>G Single submitter
c.3050+230A>G Single submitter ABCA4-related disorder
c.3050+363_3050+390del Single submitter
c.3050+4dup Single submitter
c.3050+6C>T Single submitter
c.3051-19C>A Single submitter inherited retinal dystrophy
c.3051-3T>C Single submitter
c.3328+5C>G Single submitter
c.3329-25G>A Single submitter severe early-childhood-onset retinal dystrophy
c.3329-3C>A Single submitter
c.3522+5G>C Single submitter
c.3523-3C>G Single submitter
c.3523-6T>C Single submitter inherited retinal dystrophy
c.3608-35A>G Single submitter severe early-childhood-onset retinal dystrophy
c.3862+3A>G Single submitter
c.4128+8T>C Single submitter inherited retinal dystrophy
c.4253+3G>C Single submitter
c.4254-5T>G Single submitter
c.4352+2dup Single submitter
c.4352+4A>G Single submitter
c.4353-8T>G Single submitter retinitis pigmentosa 1
c.442+6C>A Single submitter
c.443-5_443-2del Single submitter inherited retinal dystrophy
c.4539+2000G>A Single submitter inherited retinal dystrophy
c.4539+2084C>T Single submitter inherited retinal dystrophy
c.4540-1573C>T Single submitter severe early-childhood-onset retinal dystrophy
c.4634+6A>G Single submitter
c.4667+3A>G Single submitter
c.4667+6A>T Single submitter
c.4668-11_4668-4del Single submitter
c.4774-3T>C Single submitter
c.4774-9G>A Single submitter severe early-childhood-onset retinal dystrophy
c.4849-8C>G Single submitter retinitis pigmentosa 19
c.5018+6C>T Single submitter
c.5019-3_5019-2insCAGTGG Single submitter
c.5196+1013A>G Single submitter severe early-childhood-onset retinal dystrophy
c.5196+1211A>C Single submitter ABCA4-related disorder
c.5196+6T>C Single submitter
c.5197-3G>A Single submitter
c.5197-4C>A Single submitter severe early-childhood-onset retinal dystrophy
c.5312+5_5312+14del Single submitter
c.5313-5C>G Single submitter
c.570+1818G>T Single submitter severe early-childhood-onset retinal dystrophy
c.570+5G>T Single submitter
c.571-3C>A Single submitter
c.5714+103A>G Single submitter severe early-childhood-onset retinal dystrophy
c.5714+19C>A Single submitter inherited retinal dystrophy
c.5715-3T>C Single submitter
c.5715-5T>G Single submitter
c.5836-7C>T Single submitter
c.5899-3T>C Single submitter
c.6005+5G>A Single submitter inherited retinal dystrophy
c.6006-3C>A Single submitter
c.6147+8A>C Single submitter ABCA4-related disorder
c.6148-471C>T Single submitter
c.6282+2dup Single submitter
c.6283-3C>A Single submitter inherited retinal dystrophy
c.6283-3C>T Single submitter
c.6386+3A>C Single submitter
c.66+3A>C Single submitter
c.67-2830C>T Single submitter
c.6816+5C>T Single submitter
c.6816+6C>T Single submitter
c.768+3A>T Single submitter
c.769-5431G>A Single submitter
c.859-13T>C Single submitter severe early-childhood-onset retinal dystrophy
c.859-256_859-235delinsGGGATTACAGGTGAGAGCCACC Single submitter
c.*147C>T Single submitter ABCA4-related disorder
c.*228A>T Single submitter ABCA4-related disorder
c.*23C>T Single submitter ABCA4-related disorder
c.*254C>A Single submitter ABCA4-related disorder
c.*284T>C Single submitter ABCA4-related disorder
c.*299G>C Single submitter ABCA4-related disorder
p.1279DS[1] Single submitter
p.162TL[1] Single submitter
p.Ala1000Val Single submitter ⚠