CACNA1F — 1469 ClinVar variants
All ClinVar germline CACNA1F variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 701 flagged for review →
107 Pathogenic · 13 Pathogenic/Likely pathogenic · 70 Likely pathogenic · 32 Conflicting · 56 Benign · 8 Benign/Likely benign · 448 Likely benign · 735 Uncertain significance
Full CACNA1F gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 701
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 agree, ClinVar conflicts 15
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- CACNA1F c.1276+25C>T Conflicting Single submitter
- CACNA1F p.Arg1049Trp Conflicting Single submitter
- CACNA1F p.Arg1278Cys Conflicting Single submitter
-
CACNA1F p.Arg1521Gly
Conflicting
Single submitter
congenital stationary night blindness 2A
-
CACNA1F p.Arg1835Gln
Conflicting
Single submitter
Aland island eye disease
-
CACNA1F p.Arg82Gln
Conflicting
Single submitter
inherited retinal dystrophy
- CACNA1F p.Glu880Lys Conflicting Single submitter
- CACNA1F p.Gly1007Glu Conflicting Single submitter
- CACNA1F p.Gly1855Ser Conflicting Single submitter
- CACNA1F p.Gly31Arg Conflicting Single submitter
- CACNA1F p.Gly777Val Conflicting Single submitter
- CACNA1F p.Gly815Val Conflicting Single submitter
- CACNA1F p.Gly922Ser Conflicting Single submitter
- CACNA1F p.Ile254Thr Conflicting Single submitter
-
CACNA1F p.Thr1691Ala
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 447
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 447
-
CACNA1F p.Ala108Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Ala1131Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Ala1849Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Ala1884Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Ala34Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Ala646Thr
Uncertain significance
Multiple submitters
congenital stationary night blindness 2A
- CACNA1F p.Arg1049Gln Uncertain significance Multiple submitters
-
CACNA1F p.Arg1291Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg1351Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg1621Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg441His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg512Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg614Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg889His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg926Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg926Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1F p.Asp1086Asn Uncertain significance Multiple submitters
-
CACNA1F p.Asp1771Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1F p.Asp701Tyr Uncertain significance Multiple submitters
-
CACNA1F p.Cys1494Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1F p.Cys29Gly Uncertain significance Multiple submitters
- CACNA1F p.Gln1751His Uncertain significance Multiple submitters
- CACNA1F p.Glu330Lys Uncertain significance Multiple submitters
-
CACNA1F p.Glu346Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1F p.Gly1123Asp Uncertain significance Multiple submitters
-
CACNA1F p.Gly150Arg
Uncertain significance
Multiple submitters
X-linked cone-rod dystrophy 3
-
CACNA1F p.Gly1703Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Gly472Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Gly593Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1F p.His1873Asn Uncertain significance Multiple submitters
-
CACNA1F p.Leu1045Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1F p.Leu243Phe Uncertain significance Multiple submitters
- CACNA1F p.Lys1311Thr Uncertain significance Multiple submitters
-
CACNA1F p.Lys8Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Met320Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Met565Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Phe318Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Phe585Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Pro1785Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Ser644Tyr
Uncertain significance
Multiple submitters
congenital stationary night blindness 2A
-
CACNA1F p.Thr1437Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Thr532Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Tyr1769His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Tyr713His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Val1341Met
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CACNA1F p.Val1362Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Val1498Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1F p.Val723Met Uncertain significance Multiple submitters
- CACNA1F c.1276+22G>A Uncertain significance Single submitter
- CACNA1F c.1276+22G>C Uncertain significance Single submitter
-
CACNA1F c.1276+24G>A
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F c.1276+8G>T Uncertain significance Single submitter
- CACNA1F p.Ala1004Thr Uncertain significance Single submitter
- CACNA1F p.Ala1022Asp Uncertain significance Single submitter
- CACNA1F p.Ala104Val Uncertain significance Single submitter
-
CACNA1F p.Ala1153Asp
Uncertain significance
Single submitter
congenital stationary night blindness 2A
-
CACNA1F p.Ala1210Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Ala123Thr Uncertain significance Single submitter
- CACNA1F p.Ala1361Thr Uncertain significance Single submitter
- CACNA1F p.Ala1518Pro Uncertain significance Single submitter
- CACNA1F p.Ala1518Val Uncertain significance Single submitter
- CACNA1F p.Ala1598Thr Uncertain significance Single submitter
- CACNA1F p.Ala1599Val Uncertain significance Single submitter
- CACNA1F p.Ala1605Thr Uncertain significance Single submitter
- CACNA1F p.Ala1702Thr Uncertain significance Single submitter
- CACNA1F p.Ala1702Val Uncertain significance Single submitter
- CACNA1F p.Ala1713Ser Uncertain significance Single submitter
-
CACNA1F p.Ala1752Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Ala1786Thr Uncertain significance Single submitter
- CACNA1F p.Ala1848Thr Uncertain significance Single submitter
-
CACNA1F p.Ala1908Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Ala1961Ser Uncertain significance Single submitter
- CACNA1F p.Ala1965Thr Uncertain significance Single submitter
- CACNA1F p.Ala204Thr Uncertain significance Single submitter
- CACNA1F p.Ala207Val Uncertain significance Single submitter
- CACNA1F p.Ala291Thr Uncertain significance Single submitter
- CACNA1F p.Ala319Thr Uncertain significance Single submitter
-
CACNA1F p.Ala430Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CACNA1F p.Ala457Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Ala480Val Uncertain significance Single submitter
- CACNA1F p.Ala523Val Uncertain significance Single submitter
- CACNA1F p.Ala576Thr Uncertain significance Single submitter
- CACNA1F p.Ala604Thr Uncertain significance Single submitter
- CACNA1F p.Ala646Pro Uncertain significance Single submitter
- CACNA1F p.Ala71Thr Uncertain significance Single submitter
- CACNA1F p.Ala746Pro Uncertain significance Single submitter
- CACNA1F p.Ala790Gly Uncertain significance Single submitter
- CACNA1F p.Ala878Val Uncertain significance Single submitter
- CACNA1F p.Arg1047Gln Uncertain significance Single submitter
- CACNA1F p.Arg1049Leu Uncertain significance Single submitter
- CACNA1F p.Arg1147Cys Uncertain significance Single submitter
- CACNA1F p.Arg1147Pro Uncertain significance Single submitter
- CACNA1F p.Arg1160Pro Uncertain significance Single submitter
- CACNA1F p.Arg1171Pro Uncertain significance Single submitter
- CACNA1F p.Arg1278Leu Uncertain significance Single submitter
- CACNA1F p.Arg1288Gln Uncertain significance Single submitter
-
CACNA1F p.Arg1288Pro
Uncertain significance
Single submitter
inherited retinal dystrophy
- CACNA1F p.Arg1303His Uncertain significance Single submitter
- CACNA1F p.Arg1367Trp Uncertain significance Single submitter
- CACNA1F p.Arg1491Gln Uncertain significance Single submitter
- CACNA1F p.Arg1521Pro Uncertain significance Single submitter
- CACNA1F p.Arg1661His Uncertain significance Single submitter
- CACNA1F p.Arg1662Gln Uncertain significance Single submitter
- CACNA1F p.Arg1709Lys Uncertain significance Single submitter
- CACNA1F p.Arg1744Gln Uncertain significance Single submitter
- CACNA1F p.Arg1768Gly Uncertain significance Single submitter
-
CACNA1F p.Arg1777His
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Arg1778His Uncertain significance Single submitter
- CACNA1F p.Arg1779His Uncertain significance Single submitter
- CACNA1F p.Arg1799His Uncertain significance Single submitter
- CACNA1F p.Arg1814His Uncertain significance Single submitter
-
CACNA1F p.Arg1816Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
- CACNA1F p.Arg1833Gln Uncertain significance Single submitter
-
CACNA1F p.Arg1862Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Arg1862Gly Uncertain significance Single submitter
- CACNA1F p.Arg1862His Uncertain significance Single submitter
- CACNA1F p.Arg1902Gln Uncertain significance Single submitter
- CACNA1F p.Arg1905His Uncertain significance Single submitter
- CACNA1F p.Arg1950Cys Uncertain significance Single submitter
- CACNA1F p.Arg1950His Uncertain significance Single submitter
- CACNA1F p.Arg1950Leu Uncertain significance Single submitter
- CACNA1F p.Arg206Lys Uncertain significance Single submitter
- CACNA1F p.Arg385Cys Uncertain significance Single submitter
- CACNA1F p.Arg385Leu Uncertain significance Single submitter
- CACNA1F p.Arg392Gly Uncertain significance Single submitter
- CACNA1F p.Arg392Trp Uncertain significance Single submitter
- CACNA1F p.Arg448His Uncertain significance Single submitter
-
CACNA1F p.Arg448Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Arg499His Uncertain significance Single submitter
- CACNA1F p.Arg505Pro Uncertain significance Single submitter
- CACNA1F p.Arg512Leu Uncertain significance Single submitter
- CACNA1F p.Arg617His Uncertain significance Single submitter
- CACNA1F p.Arg67Trp Uncertain significance Single submitter
- CACNA1F p.Arg680Gln Uncertain significance Single submitter
- CACNA1F p.Arg792Ser Uncertain significance Single submitter
-
CACNA1F p.Arg850Lys
Uncertain significance
Single submitter
X-linked cone-rod dystrophy 3
- CACNA1F p.Arg884Gln Uncertain significance Single submitter
- CACNA1F p.Arg889Cys Uncertain significance Single submitter
- CACNA1F p.Arg958Gln Uncertain significance Single submitter
- CACNA1F p.Arg958Leu Uncertain significance Single submitter
-
CACNA1F p.Arg961Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
- CACNA1F p.Arg964Gln Uncertain significance Single submitter
- CACNA1F p.Arg987Gln Uncertain significance Single submitter
- CACNA1F p.Arg987Trp Uncertain significance Single submitter
-
CACNA1F p.Asn1053Lys
Uncertain significance
Single submitter
inherited retinal dystrophy
- CACNA1F p.Asn124Asp Uncertain significance Single submitter
- CACNA1F p.Asn1264Ser Uncertain significance Single submitter
-
CACNA1F p.Asn1353Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Asn1354Lys Uncertain significance Single submitter
-
CACNA1F p.Asn161Ser
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 239
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 239
-
CACNA1F p.Ala1242Val
Uncertain significance
Multiple submitters
congenital stationary night blindness 2A
-
CACNA1F p.Ala1408Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Ala1574Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Ala950Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg1160Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg1777Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg1814Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg439Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg495Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg498Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg508Gln
Benign/Likely benign
Multiple submitters
congenital stationary night blindness 2A
-
CACNA1F p.Arg512Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg512His
Benign/Likely benign
Multiple submitters
Aland island eye disease
-
CACNA1F p.Arg513Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Arg513Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1F p.Arg584His Uncertain significance Multiple submitters
- CACNA1F p.Asp1943His Uncertain significance Multiple submitters
-
CACNA1F p.Asp1955Asn
Uncertain significance
Multiple submitters
congenital stationary night blindness 2A
-
CACNA1F p.Asp422Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Glu1629Ala
Uncertain significance
Multiple submitters
congenital stationary night blindness 2A
-
CACNA1F p.Glu799Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Gly1270Arg
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- CACNA1F p.Gly1384Arg Uncertain significance Multiple submitters
- CACNA1F p.Gly1673Trp Benign Multiple submitters
-
CACNA1F p.Gly23Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Gly815Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1F p.His627Tyr Uncertain significance Multiple submitters
- CACNA1F p.Ile645Val Uncertain significance Multiple submitters
-
CACNA1F p.Leu1062Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Met1378Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Met721Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1F p.Pro1167Leu Uncertain significance Multiple submitters
-
CACNA1F p.Thr1245Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Thr1509Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1F p.Thr1625Pro Uncertain significance Multiple submitters
-
CACNA1F p.Thr562Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1F p.Val370Ile
Uncertain significance
Multiple submitters
X-linked cone-rod dystrophy 3
-
CACNA1F c.1276+21C>T
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F c.1276+33C>T Uncertain significance Single submitter
-
CACNA1F p.Ala1064Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Ala1067Gly Uncertain significance Single submitter
- CACNA1F p.Ala1079Val Uncertain significance Single submitter
- CACNA1F p.Ala1114Ser Uncertain significance Single submitter
-
CACNA1F p.Ala123Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
- CACNA1F p.Ala1248Thr Benign Single submitter
- CACNA1F p.Ala1473Val Uncertain significance Single submitter
- CACNA1F p.Ala1890Thr Uncertain significance Single submitter
- CACNA1F p.Ala1910Asp Uncertain significance Single submitter
- CACNA1F p.Ala241Gly Uncertain significance Single submitter
- CACNA1F p.Ala284Gly Uncertain significance Single submitter
- CACNA1F p.Ala284Thr Uncertain significance Single submitter
- CACNA1F p.Ala319Ser Uncertain significance Single submitter
- CACNA1F p.Ala411Thr Uncertain significance Single submitter
-
CACNA1F p.Ala536Thr
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1F p.Ala78Val Likely benign Single submitter
-
CACNA1F p.Ala885Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Arg1043Trp Uncertain significance Single submitter
- CACNA1F p.Arg1099Gly Uncertain significance Single submitter
- CACNA1F p.Arg1130His Likely benign Single submitter
- CACNA1F p.Arg1161His Uncertain significance Single submitter
- CACNA1F p.Arg1161Leu Uncertain significance Single submitter
- CACNA1F p.Arg1161Pro Uncertain significance Single submitter
- CACNA1F p.Arg1171Gly Uncertain significance Single submitter
- CACNA1F p.Arg1171Ser Uncertain significance Single submitter
- CACNA1F p.Arg1278His Conflicting Single submitter
- CACNA1F p.Arg1351Gln Uncertain significance Single submitter
- CACNA1F p.Arg1386Gln Uncertain significance Single submitter
- CACNA1F p.Arg1386Trp Uncertain significance Single submitter
-
CACNA1F p.Arg1465Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Arg1465His Uncertain significance Single submitter
- CACNA1F p.Arg1477Cys Uncertain significance Single submitter
-
CACNA1F p.Arg1477His
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Arg1540Gln Uncertain significance Single submitter
- CACNA1F p.Arg1549Trp Uncertain significance Single submitter
- CACNA1F p.Arg1586Gln Uncertain significance Single submitter
- CACNA1F p.Arg1587Gln Uncertain significance Single submitter
- CACNA1F p.Arg1587Trp Likely benign Single submitter
- CACNA1F p.Arg1611Gln Uncertain significance Single submitter
- CACNA1F p.Arg1611Trp Uncertain significance Single submitter
- CACNA1F p.Arg1621Trp Uncertain significance Single submitter
- CACNA1F p.Arg1661Cys Uncertain significance Single submitter
- CACNA1F p.Arg1662Trp Uncertain significance Single submitter
-
CACNA1F p.Arg1744Trp
Uncertain significance
Single submitter
inherited retinal dystrophy
- CACNA1F p.Arg1778Cys Conflicting Single submitter
- CACNA1F p.Arg1788Gln Uncertain significance Single submitter
- CACNA1F p.Arg1788Trp Uncertain significance Single submitter
- CACNA1F p.Arg1799Cys Likely benign Single submitter
- CACNA1F p.Arg1905Cys Uncertain significance Single submitter
- CACNA1F p.Arg300His Uncertain significance Single submitter
- CACNA1F p.Arg392Gln Likely benign Single submitter
- CACNA1F p.Arg402Gln Uncertain significance Single submitter
- CACNA1F p.Arg402Leu Uncertain significance Single submitter
- CACNA1F p.Arg402Trp Uncertain significance Single submitter
- CACNA1F p.Arg437His Uncertain significance Single submitter
- CACNA1F p.Arg439His Uncertain significance Single submitter
- CACNA1F p.Arg441Cys Uncertain significance Single submitter
- CACNA1F p.Arg486Cys Uncertain significance Single submitter
- CACNA1F p.Arg498His Uncertain significance Single submitter
- CACNA1F p.Arg499Cys Uncertain significance Single submitter
- CACNA1F p.Arg501Cys Uncertain significance Single submitter
- CACNA1F p.Arg502Gln Uncertain significance Single submitter
- CACNA1F p.Arg502Gly Uncertain significance Single submitter
- CACNA1F p.Arg505Gln Uncertain significance Single submitter
- CACNA1F p.Arg505Gly Uncertain significance Single submitter
-
CACNA1F p.Arg505Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Arg508Trp Uncertain significance Single submitter
- CACNA1F p.Arg510Cys Likely benign Single submitter
- CACNA1F p.Arg513Pro Uncertain significance Single submitter
- CACNA1F p.Arg584Cys Uncertain significance Single submitter
- CACNA1F p.Arg70Gln Conflicting Single submitter
- CACNA1F p.Arg83Gln Uncertain significance Single submitter
- CACNA1F p.Arg83Trp Uncertain significance Single submitter
- CACNA1F p.Arg921Cys Uncertain significance Single submitter
- CACNA1F p.Arg921His Uncertain significance Single submitter
-
CACNA1F p.Arg926His
Conflicting
Single submitter
CACNA1F-related retinopathy
- CACNA1F p.Asn1513Ser Uncertain significance Single submitter
- CACNA1F p.Asn1536Ser Uncertain significance Single submitter
- CACNA1F p.Asn307Ser Uncertain significance Single submitter
- CACNA1F p.Asn864Ser Uncertain significance Single submitter
- CACNA1F p.Asp1241Asn Uncertain significance Single submitter
- CACNA1F p.Asp1943Asn Conflicting Single submitter
- CACNA1F p.Asp1952Asn Uncertain significance Single submitter
- CACNA1F p.Asp1952His Uncertain significance Single submitter
- CACNA1F p.Asp473Asn Uncertain significance Single submitter
- CACNA1F p.Asp475Asn Uncertain significance Single submitter
- CACNA1F p.Cys1796Arg Uncertain significance Single submitter
- CACNA1F p.Cys591Phe Uncertain significance Single submitter
- CACNA1F p.Glu1090Gly Uncertain significance Single submitter
- CACNA1F p.Glu1202Lys Uncertain significance Single submitter
- CACNA1F p.Glu1271Lys Uncertain significance Single submitter
- CACNA1F p.Glu1376Asp Uncertain significance Single submitter
- CACNA1F p.Glu1398Lys Uncertain significance Single submitter
- CACNA1F p.Glu1557Lys Uncertain significance Single submitter
- CACNA1F p.Glu1721Lys Uncertain significance Single submitter
- CACNA1F p.Glu1944Lys Uncertain significance Single submitter
- CACNA1F p.Glu474Lys Uncertain significance Single submitter
- CACNA1F p.Glu809Asp Uncertain significance Single submitter
- CACNA1F p.Gly1266Asp Uncertain significance Single submitter
- CACNA1F p.Gly194Trp Uncertain significance Single submitter
- CACNA1F p.Gly195Glu Uncertain significance Single submitter
- CACNA1F p.Gly271Arg Likely benign Single submitter
- CACNA1F p.Gly287Arg Uncertain significance Single submitter
- CACNA1F p.Gly287Val Uncertain significance Single submitter
- CACNA1F p.Gly479Arg Benign Single submitter
-
CACNA1F p.Gly573Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
- CACNA1F p.Gly852Ser Uncertain significance Single submitter
- CACNA1F p.Ile1006Val Uncertain significance Single submitter
-
CACNA1F p.Ile1110Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1F p.Ile1323Val Uncertain significance Single submitter
- CACNA1F p.Ile1422Val Uncertain significance Single submitter
All CACNA1F variants
Pathogenic 107
- c.1118+1G>C Multiple submitters congenital stationary night blindness
- c.2543+1G>A Multiple submitters X-linked CACNA1F-related disorders
- c.276delG Multiple submitters
- c.2928+1G>A Multiple submitters
- c.4260+2del Multiple submitters Aland island eye disease
- p.Arg1288Ter Multiple submitters inherited retinal dystrophy
- p.Arg1351Ter Multiple submitters optic atrophy
- p.Arg1491Ter Multiple submitters congenital stationary night blindness 2A
- p.Arg1816Ter Multiple submitters congenital stationary night blindness 2A
- p.Arg502Ter Multiple submitters inherited retinal dystrophy
- p.Arg50Ter Multiple submitters congenital stationary night blindness 2A
- p.Arg614Ter Multiple submitters congenital stationary night blindness 2A
- p.Arg82Ter Multiple submitters CACNA1F-related disorder
- p.Arg958Ter Multiple submitters inherited retinal dystrophy
- p.Arg978Ter Multiple submitters
- p.Gln542Ter Multiple submitters Inborn genetic diseases
- p.Glu1134Ter Multiple submitters
- p.Leu1045fs Multiple submitters CACNA1F-related disorder
- c.1015-2A>G Single submitter cone-rod dystrophy
- c.1651+1G>A Single submitter retinal disorder
- c.2086-2A>C Single submitter
- c.2543+4_2543+5del Single submitter retinal disorder
- c.3088_3089+2del Single submitter
- c.4260+1G>A Single submitter
- p.Ala1004fs Single submitter
- p.Ala284fs Single submitter
- p.Arg1160fs Single submitter
- p.Arg1285fs Single submitter
- p.Arg1496Ter Single submitter
- p.Arg262Ter Single submitter congenital stationary night blindness
- p.Arg290Cys Single submitter
- p.Arg486fs Single submitter
- p.Arg884Ter Single submitter congenital stationary night blindness 2A
- p.Asn1354fs Single submitter retinal disorder
- p.Asn1733fs Single submitter
- p.Asp167fs Single submitter
- p.Cys1140Ter Single submitter
- p.Cys267Ter Single submitter CACNA1F-related disorder
- p.Cys299Ter Single submitter
- p.Cys587Ter Single submitter
- p.Gln1000Ter Single submitter
- p.Gln1135Ter Single submitter
- p.Gln1732fs Single submitter
- p.Gln1767Ter Single submitter
- p.Gln182Ter Single submitter
- p.Gln389fs Single submitter
- p.Gln391Ter Single submitter
- p.Gln53Ter Single submitter X-linked cone-rod dystrophy 3
- p.Gln606Ter Single submitter
- p.Gln845Ter Single submitter
- p.Glu275fs Single submitter
- p.Glu378fs Single submitter
- p.Glu412Ter Single submitter
- p.Glu469fs Single submitter
- p.Glu806Ter Single submitter
- p.Gly1076fs Single submitter
- p.Gly185Ter Single submitter
- p.Ile1546fs Single submitter
- p.Ile745Thr Single submitter
- p.Leu234fs Single submitter
- p.Leu321fs Single submitter CACNA1F-related retinopathy
- p.Leu560fs Single submitter
- p.Leu619fs Single submitter X-linked cone-rod dystrophy 3
- p.Leu652fs Single submitter
- p.Lys145fs Single submitter
- p.Lys1553Ter Single submitter
- p.Lys232Ter Single submitter congenital stationary night blindness 2A
- p.Met931fs Single submitter
- p.Phe1124fs Single submitter
- p.Phe115fs Single submitter
- p.Phe1309fs Single submitter
- p.Phe742Cys Single submitter congenital stationary night blindness
- p.Pro1167fs Single submitter congenital stationary night blindness 2A
- p.Pro197fs Single submitter
- p.Pro835fs Single submitter X-linked cone-rod dystrophy 3
- p.Ser1601fs Single submitter
- p.Ser466fs Single submitter
- p.Ser579fs Single submitter
- p.Ser873fs Single submitter
- p.Thr1437fs Single submitter
- p.Thr47fs Single submitter
- p.Trp1827Ter Single submitter
- p.Trp338Ter Single submitter inherited retinal dystrophy
- p.Trp349fs Single submitter congenital stationary night blindness 2A
- p.Trp442Ter Single submitter
- p.Trp91Ter Single submitter CACNA1F-related disorder
- p.Tyr1016Ter Single submitter
- p.Tyr132Ter Single submitter
- p.Tyr149Ter Single submitter
- p.Tyr1812Ter Single submitter
- p.Tyr268Ter Single submitter
- c.1877+1G>T No assertion criteria X-linked cone-rod dystrophy 3
- c.3090-23_3104del No assertion criteria inherited retinal dystrophy
- c.3439-1_3442delinsTGG No assertion criteria X-linked cone-rod dystrophy 3
- c.3598-133_3709-76del No assertion criteria Aland island eye disease
- c.621_1392delinsCTCATTG No assertion criteria inherited retinal dystrophy
- p.Ala65fs No assertion criteria congenital stationary night blindness
- p.Cys925fs No assertion criteria congenital stationary night blindness
- p.Glu1641fs No assertion criteria inherited retinal dystrophy
- p.Glu824Ter No assertion criteria congenital stationary night blindness
- p.Gly369Asp No assertion criteria congenital stationary night blindness 2A
- p.Gly837Ser No assertion criteria X-linked cone-rod dystrophy 3 ⚠
- p.Ile225fs No assertion criteria inherited retinal dystrophy
- p.Phe1517fs No assertion criteria congenital stationary night blindness 2A
- p.Ser575fs No assertion criteria congenital stationary night blindness 2A
- p.Trp1307Ter No assertion criteria congenital stationary night blindness 2A
- p.Trp407fs No assertion criteria congenital stationary night blindness
Pathogenic/Likely pathogenic 13
- c.2086-1G>C Multiple submitters X-linked cone-rod dystrophy 3
- c.2086-2A>G Multiple submitters congenital stationary night blindness
- c.3236+1G>A Multiple submitters Aland island eye disease
- c.3792+2T>C Multiple submitters X-linked cone-rod dystrophy 3
- c.4008+1G>A Multiple submitters X-linked CACNA1F-related disorders
- p.Ala480fs Multiple submitters Aland island eye disease
- p.Arg680Ter Multiple submitters
- p.Arg961Ter Multiple submitters inherited retinal dystrophy
- p.Gly1007Arg Multiple submitters congenital stationary night blindness 2A
- p.Leu1670fs Multiple submitters
- p.Phe318del Multiple submitters cone-rod dystrophy
- p.Arg1285Cys No assertion criteria Progressive cone dystrophy (without rod involvement)
- p.Gly359Arg No assertion criteria
Likely pathogenic 70
- p.Leu1497Pro Multiple submitters inherited retinal dystrophy
- c.1019_1025del Single submitter Aland island eye disease
- c.1490+1G>T Single submitter
- c.1491-2A>G Single submitter
- c.1651+2T>C Single submitter
- c.1877+2T>G Single submitter
- c.2334+1G>A Single submitter CACNA1F-related disorder
- c.2544-2A>T Single submitter inherited retinal dystrophy
- c.2544-3C>G Single submitter
- c.2674-2A>G Single submitter
- c.2734-2A>G Single submitter
- c.2929-1G>A Single submitter
- c.3036+1G>A Single submitter
- c.3090-2A>T Single submitter
- c.3438+1G>A Single submitter
- c.3438+2T>C Single submitter
- c.3597+2T>C Single submitter
- c.3709-2A>C Single submitter
- c.3793-1G>A Single submitter
- c.3793-2A>T Single submitter congenital stationary night blindness 2A
- c.381+1G>A Single submitter
- c.3813+2T>C Single submitter
- c.4101-2A>T Single submitter
- c.4389-1G>A Single submitter
- c.4486-1G>C Single submitter
- c.4821+1G>A Single submitter
- c.4822-2A>G Single submitter
- c.5124-2_5124-1del Single submitter
- c.521+1G>A Single submitter
- c.522-1G>A Single submitter
- c.5359+1G>A Single submitter
- c.5473-1G>A Single submitter
- c.665-1G>A Single submitter
- p.Ala985fs Single submitter cone-rod dystrophy
- p.Arg1161fs Single submitter congenital stationary night blindness 2A
- p.Arg1285His Single submitter
- p.Asp387fs Single submitter inherited retinal dystrophy
- p.Cys1488Arg Single submitter
- p.Gln1199fs Single submitter X-linked cone-rod dystrophy 3
- p.Gln395Ter Single submitter inherited retinal dystrophy
- p.Gln428Ter Single submitter Aland island eye disease
- p.Glu1136Ter Single submitter inherited retinal dystrophy
- p.Glu1397fs Single submitter Aland island eye disease
- p.Glu380fs Single submitter Aland island eye disease
- p.Gly1396fs Single submitter Aland island eye disease
- p.Pro1489Arg Single submitter optic atrophy
- p.Trp1051Ter Single submitter inherited retinal dystrophy
- p.Tyr404fs Single submitter congenital stationary night blindness 2A
- c.1433_1463+7del No assertion criteria congenital stationary night blindness
- c.2733+1G>A No assertion criteria congenital stationary night blindness
- c.3037-2A>G No assertion criteria X-linked cone-rod dystrophy 3
- c.3708+2T>C No assertion criteria Aland island eye disease
- c.4261-9G>A No assertion criteria congenital stationary night blindness
- c.522-16G>A No assertion criteria
- c.818-1G>A No assertion criteria retinitis pigmentosa
- c.818-820del No assertion criteria congenital stationary night blindness 2A
- p.Arg436Ter No assertion criteria congenital stationary night blindness
- p.Arg502fs No assertion criteria congenital stationary night blindness
- p.Arg50fs No assertion criteria congenital stationary night blindness 2A
- p.Asn1060Lys No assertion criteria congenital stationary night blindness
- p.Asp1736fs No assertion criteria inherited retinal dystrophy
- p.Gln1199Ter No assertion criteria Abnormality of the eye
- p.Glu412fs No assertion criteria congenital stationary night blindness 2A
- p.Gly1485Glu No assertion criteria congenital stationary night blindness
- p.Leu661Arg No assertion criteria congenital stationary night blindness 2A
- p.Lys670fs No assertion criteria congenital stationary night blindness 2A
- p.Pro1480Leu No assertion criteria congenital stationary night blindness
- p.Ser1103fs No assertion criteria congenital stationary night blindness
- p.Ser156fs No assertion criteria congenital stationary night blindness 2A
- p.Val1061Asp No assertion criteria congenital stationary night blindness 2A
Conflicting classifications of pathogenicity 32
- c.1014+6G>A Single submitter
- c.1276+25C>T Single submitter ⚠
- c.1369+15A>G Single submitter inherited retinal dystrophy
- c.2387-19del Single submitter
- c.3236+3G>A Single submitter inherited retinal dystrophy
- c.4008+8_4008+13del Single submitter inherited retinal dystrophy
- p.Ala536Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1049Trp Single submitter ⚠
- p.Arg1278Cys Single submitter ⚠
- p.Arg1278His Single submitter ⚠
- p.Arg1521Gly Single submitter congenital stationary night blindness 2A ⚠
- p.Arg1744= Single submitter
- p.Arg1778Cys Single submitter ⚠
- p.Arg1835Gln Single submitter Aland island eye disease ⚠
- p.Arg70Gln Single submitter ⚠
- p.Arg82Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg926His Single submitter CACNA1F-related retinopathy ⚠
- p.Asp1943Asn Single submitter ⚠
- p.Glu812_Glu814del Single submitter
- p.Glu812_Glu814dup Single submitter
- p.Glu880Lys Single submitter ⚠
- p.Gly1007Glu Single submitter ⚠
- p.Gly1855Ser Single submitter ⚠
- p.Gly31Arg Single submitter ⚠
- p.Gly777Val Single submitter ⚠
- p.Gly815Val Single submitter ⚠
- p.Gly922Ser Single submitter ⚠
- p.Ile1310= Single submitter
- p.Ile254Thr Single submitter ⚠
- p.Ser1791Phe Single submitter congenital stationary night blindness ⚠
- p.Thr1691Ala Single submitter Inborn genetic diseases ⚠
- p.Val624Ile Single submitter inherited retinal dystrophy ⚠
Benign 56
- c.1118+6= Multiple submitters
- c.1651+241A>G Multiple submitters
- c.2335-138G>A Multiple submitters
- c.2335-89C>T Multiple submitters
- c.26-173C>G Multiple submitters
- c.26-182A>G Multiple submitters
- c.3236+55T>C Multiple submitters
- c.3237-16C>G Multiple submitters
- c.3237-71G>C Multiple submitters
- c.3597+131T>C Multiple submitters
- c.3597+44T>G Multiple submitters
- c.521+39C>T Multiple submitters
- c.5670+69C>T Multiple submitters
- p.Arg1919His Multiple submitters
- p.Asp1943= Multiple submitters
- p.Glu814dup Multiple submitters inherited retinal dystrophy
- p.Gly1394Ser Multiple submitters
- p.Gly1673Trp Multiple submitters ⚠
- p.Gly1683Glu Multiple submitters
- p.Gly603= Multiple submitters
- p.His1092= Multiple submitters
- p.Pro14Leu Multiple submitters
- c.1651+8C>G Single submitter
- c.2289-202= Single submitter
- c.2387-27dup Single submitter
- c.25+9A>G Single submitter
- c.2674-20C>T Single submitter
- c.2733+15C>T Single submitter
- c.2928+5C>T Single submitter X-linked cone-rod dystrophy 3
- c.2929-172C>T Single submitter
- c.3037-30G>A Single submitter X-linked cone-rod dystrophy 3
- c.3089+149dup Single submitter
- c.3237-15del Single submitter
- c.3237-16C>T Single submitter
- c.3597+212dup Single submitter
- c.3708+7C>T Single submitter
- c.382-15dup Single submitter
- c.3943-11dup Single submitter
- c.3943-17del Single submitter
- c.4100+131G>C Single submitter
- c.4691-20C>T Single submitter
- c.818-302C>G Single submitter
- p.Ala1248Thr Single submitter ⚠
- p.Ala276Val Single submitter
- p.Ala430= Single submitter
- p.Ala461Val Single submitter
- p.Ala879Thr Single submitter
- p.Asn295= Single submitter
- p.Gly1847= Single submitter
- p.Gly479Arg Single submitter ⚠
- p.Pro1489= Single submitter
- p.Pro30= Single submitter
- p.Ser1949Phe Single submitter ⚠
- p.Ser660Cys Single submitter ⚠
- p.Thr1921= Single submitter
- c.1118+6A>G No assertion criteria
Benign/Likely benign 8
- c.2334+123G>C Multiple submitters X-linked cone-rod dystrophy 3
- c.2673+3G>A Multiple submitters Aland island eye disease
- c.3439-18C>T Multiple submitters congenital stationary night blindness 2A
- p.Arg508Gln Multiple submitters congenital stationary night blindness 2A ⚠
- p.Arg512His Multiple submitters Aland island eye disease ⚠
- p.Asp1247= Multiple submitters
- p.Phe1900= Multiple submitters
- p.Val1217= Multiple submitters
Likely benign 448
Showing the top 300 by review status; the full set is in the sitemap.
- c.1276+26G>A Multiple submitters
- c.2734-62C>T Multiple submitters
- p.Ala1331= Multiple submitters
- p.Asn735Thr Multiple submitters congenital stationary night blindness 2A
- p.Asp189= Multiple submitters
- p.Glu802= Multiple submitters
- p.Gly194= Multiple submitters
- p.Leu429= Multiple submitters
- p.Lys516Glu Multiple submitters
- p.Ser2= Multiple submitters Inborn genetic diseases
- p.Thr1019= Multiple submitters
- p.Thr1509= Multiple submitters
- p.Trp91Cys Multiple submitters
- c.1014+12T>G Single submitter
- c.1015-16C>T Single submitter
- c.1015-18T>C Single submitter
- c.1118+19C>A Single submitter
- c.1118+20C>T Single submitter
- c.1276+20C>T Single submitter
- c.1276+42C>T Single submitter
- c.1276+46A>T Single submitter
- c.1276+48T>C Single submitter
- c.1276+49C>T Single submitter
- c.1277-16C>A Single submitter
- c.1463+10C>G Single submitter
- c.1463+18_1463+29del Single submitter
- c.1463+7G>A Single submitter
- c.1490+20C>A Single submitter
- c.1491-11C>T Single submitter
- c.1491-19T>C Single submitter
- c.1491-20G>T Single submitter
- c.1491-7C>T Single submitter
- c.1652-12C>T Single submitter
- c.1877+12G>A Single submitter
- c.1877+19G>C Single submitter
- c.1877+7A>G Single submitter
- c.1878-16C>T Single submitter
- c.1878-18del Single submitter
- c.2085+19G>A Single submitter
- c.2206+19G>A Single submitter
- c.2206+9G>C Single submitter
- c.2207-15C>T Single submitter
- c.2207-17G>A Single submitter
- c.2207-8C>T Single submitter
- c.2289-11T>C Single submitter
- c.2289-6G>A Single submitter
- c.2334+20A>G Single submitter
- c.2334+9G>A Single submitter
- c.2335-16G>A Single submitter
- c.2335-17C>T Single submitter
- c.2387-8G>A Single submitter
- c.25+15C>T Single submitter
- c.25+1G>A Single submitter X-linked cone-rod dystrophy 3
- c.2543+11G>A Single submitter
- c.2543+16G>A Single submitter
- c.2544-11C>G Single submitter
- c.2673+12G>A Single submitter
- c.2673+19G>A Single submitter
- c.2674-14T>C Single submitter
- c.2674-19G>A Single submitter
- c.2674-20C>G Single submitter
- c.2674-4C>T Single submitter
- c.2674-7A>G Single submitter
- c.2734-12T>C Single submitter
- c.2734-18C>T Single submitter
- c.275+14C>G Single submitter
- c.276-14T>C Single submitter
- c.2840+8A>G Single submitter
- c.2841-17G>A Single submitter
- c.2928+10C>A Single submitter
- c.2928+13C>T Single submitter
- c.2929-12G>T Single submitter
- c.2929-4G>A Single submitter
- c.2929-5C>T Single submitter
- c.3036+9A>G Single submitter
- c.3037-10C>T Single submitter
- c.3037-13A>G Single submitter
- c.3037-8C>G Single submitter
- c.3089+41C>T Single submitter
- c.3090-11C>G Single submitter
- c.3090-15T>C Single submitter
- c.3090-9C>T Single submitter
- c.3236+20G>A Single submitter
- c.3236+20G>C Single submitter
- c.3236+7G>A Single submitter
- c.3237-10G>A Single submitter
- c.3237-15C>A Single submitter
- c.3237-16C>A Single submitter
- c.3237-17C>A Single submitter
- c.3237-18C>A Single submitter
- c.3237-19C>A Single submitter
- c.3237-19C>G Single submitter
- c.3237-20C>A Single submitter
- c.3438+10G>A Single submitter
- c.3438+20C>A Single submitter
- c.3438+20C>T Single submitter
- c.3438+7T>A Single submitter
- c.3439-11C>T Single submitter
- c.3439-17C>T Single submitter
- c.3439-20T>C Single submitter
- c.3439-4G>A Single submitter
- c.3439-6A>G Single submitter
- c.3597+16C>G Single submitter
- c.3597+17T>C Single submitter
- c.3597+20C>T Single submitter
- c.3597+24C>T Single submitter
- c.3598-4G>A Single submitter
- c.3708+11T>C Single submitter
- c.3708+13del Single submitter
- c.3708+15C>G Single submitter
- c.3709-9T>C Single submitter
- c.3792+17C>T Single submitter
- c.3792+19A>G Single submitter
- c.3793-16C>T Single submitter
- c.3793-8C>A Single submitter
- c.3793-9T>G Single submitter
- c.381+16C>T Single submitter
- c.381+20A>C Single submitter
- c.381+7C>T Single submitter
- c.381+9C>T Single submitter
- c.3814-5C>G Single submitter
- c.3814-9T>C Single submitter
- c.382-12T>C Single submitter
- c.382-15C>G Single submitter
- c.382-16C>G Single submitter
- c.382-18C>T Single submitter
- c.3942+12C>T Single submitter
- c.3942+9C>T Single submitter
- c.3943-11C>A Single submitter
- c.3943-19C>T Single submitter
- c.3943-20C>A Single submitter
- c.3943-20C>T Single submitter
- c.4008+15_4008+16insTA Single submitter
- c.4009-10G>A Single submitter
- c.4009-11T>C Single submitter
- c.4009-11T>G Single submitter
- c.4009-12A>T Single submitter
- c.4009-4A>G Single submitter
- c.4009-7T>G Single submitter
- c.4100+15C>G Single submitter
- c.4100+16T>C Single submitter
- c.4100+7T>C Single submitter
- c.4101-17T>C Single submitter
- c.4101-4C>A Single submitter
- c.4101-4C>T Single submitter
- c.4101-8C>T Single submitter
- c.4260+19C>A Single submitter
- c.4260+9C>G Single submitter
- c.4261-13C>T Single submitter
- c.4261-18T>C Single submitter
- c.4261-4A>G Single submitter
- c.4388+13T>C Single submitter
- c.4388+16C>T Single submitter
- c.4389-16T>A Single submitter
- c.4485+13G>T Single submitter
- c.4485+18C>A Single submitter
- c.4485+7G>A Single submitter
- c.4486-11C>G Single submitter
- c.4486-11C>T Single submitter
- c.4486-17G>A Single submitter
- c.4486-9T>C Single submitter
- c.4588+12G>A Single submitter
- c.4588+7G>A Single submitter
- c.4690+14G>A Single submitter
- c.4690+16C>G Single submitter
- c.4691-11C>T Single submitter
- c.4822-7C>T Single submitter
- c.4822-8C>A Single submitter
- c.4953+18C>A Single submitter
- c.4953+22C>T Single submitter
- c.4953+9A>G Single submitter
- c.4954-10C>T Single submitter
- c.4954-4A>G Single submitter
- c.5123+18G>A Single submitter
- c.5124-18G>A Single submitter
- c.522-18C>T Single submitter
- c.522-6C>G Single submitter
- c.522-8C>T Single submitter
- c.5231+19A>G Single submitter
- c.5232-13C>T Single submitter
- c.5232-5C>T Single submitter
- c.5232-6A>C Single submitter
- c.5360-14C>T Single submitter
- c.5360-19G>A Single submitter
- c.5360-19G>C Single submitter
- c.5360-9C>A Single submitter
- c.5472+14G>A Single submitter
- c.5473-7G>C Single submitter
- c.5670+19T>C Single submitter
- c.664+16C>T Single submitter
- c.664+18C>T Single submitter
- c.665-15C>G Single submitter
- c.665-15C>T Single submitter
- c.665-20C>T Single submitter
- c.817+12C>G Single submitter
- c.817+14C>A Single submitter
- c.817+8T>C Single submitter
- p.Ala1064= Single submitter
- p.Ala1067= Single submitter
- p.Ala108= Single submitter
- p.Ala1084= Single submitter
- p.Ala1114= Single submitter
- p.Ala1259= Single submitter
- p.Ala1839= Single submitter
- p.Ala1849= Single submitter
- p.Ala1901= Single submitter
- p.Ala1908= Single submitter
- p.Ala207= Single submitter
- p.Ala276= Single submitter
- p.Ala284= Single submitter
- p.Ala382= Single submitter
- p.Ala411= Single submitter
- p.Ala536= Single submitter
- p.Ala576= Single submitter
- p.Ala78= Single submitter
- p.Ala78Val Single submitter ⚠
- p.Ala878= Single submitter
- p.Arg1130His Single submitter ⚠
- p.Arg1386= Single submitter
- p.Arg1587Trp Single submitter ⚠
- p.Arg1621= Single submitter
- p.Arg1689= Single submitter
- p.Arg1799Cys Single submitter ⚠
- p.Arg1835= Single submitter
- p.Arg1862= Single submitter
- p.Arg1919= Single submitter
- p.Arg215= Single submitter
- p.Arg302Cys Single submitter
- p.Arg385= Single submitter
- p.Arg392= Single submitter
- p.Arg392Gln Single submitter ⚠
- p.Arg495= Single submitter
- p.Arg508= Single submitter
- p.Arg510Cys Single submitter ⚠
- p.Arg67= Single submitter
- p.Arg884= Single submitter
- p.Arg921= Single submitter
- p.Arg964= Single submitter
- p.Arg971= Single submitter
- p.Asn1513= Single submitter
- p.Asn1596= Single submitter
- p.Asn740= Single submitter
- p.Asp1020= Single submitter
- p.Asp1038= Single submitter
- p.Asp1040= Single submitter
- p.Asp118= Single submitter
- p.Asp1674= Single submitter
- p.Asp1688= Single submitter
- p.Asp1736= Single submitter
- p.Asp1958= Single submitter
- p.Asp406= Single submitter
- p.Asp422= Single submitter
- p.Asp684= Single submitter
- p.Asp708= Single submitter
- p.Asp95= Single submitter
- p.Cys1029Arg Single submitter
- p.Cys1962= Single submitter
- p.Cys326= Single submitter
- p.Cys559= Single submitter
- p.Cys587= Single submitter
- p.Cys591= Single submitter
- p.Gln1344= Single submitter
- p.Gln389= Single submitter
- p.Glu1021Lys Single submitter
- p.Glu1090Asp Single submitter
- p.Glu131= Single submitter
- p.Glu1720= Single submitter
- p.Glu374= Single submitter
- p.Glu398= Single submitter
- p.Glu478= Single submitter
- p.Glu798= Single submitter
- p.Glu801= Single submitter
- p.Glu803= Single submitter
- p.Glu804= Single submitter
- p.Glu806= Single submitter
- p.Glu809= Single submitter
- p.Glu811= Single submitter
- p.Glu813= Single submitter
- p.Glu829= Single submitter
- p.Gly1093= Single submitter
- p.Gly1133= Single submitter
- p.Gly1394Arg Single submitter
- p.Gly1444= Single submitter
- p.Gly1461= Single submitter
- p.Gly1508= Single submitter
- p.Gly1530= Single submitter
- p.Gly1663= Single submitter
- p.Gly1673Arg Single submitter
- p.Gly1690= Single submitter
- p.Gly1850= Single submitter
- p.Gly1859= Single submitter
- p.Gly188= Single submitter
- p.Gly21= Single submitter
- p.Gly219= Single submitter
- p.Gly27= Single submitter
- p.Gly271Arg Single submitter ⚠
- p.Gly289= Single submitter retinitis pigmentosa
- p.Gly344= Single submitter
- p.Gly369= Single submitter
- p.Gly41= Single submitter
Uncertain significance 735
Showing the top 300 by review status; the full set is in the sitemap.
- c.1276+34G>A Multiple submitters congenital stationary night blindness 2A
- p.Ala108Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala1131Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala1242Val Multiple submitters congenital stationary night blindness 2A ⚠
- p.Ala1408Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala1574Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala1849Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1884Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala34Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala646Thr Multiple submitters congenital stationary night blindness 2A ⚠
- p.Ala950Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg1049Gln Multiple submitters ⚠
- p.Arg1160Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1291Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1351Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg1621Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg1777Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1814Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg439Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg441His Multiple submitters Inborn genetic diseases ⚠
- p.Arg495Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg498Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg512Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg512Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg513Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg513Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg584His Multiple submitters ⚠
- p.Arg614Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg889His Multiple submitters Inborn genetic diseases ⚠
- p.Arg926Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg926Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp1086Asn Multiple submitters ⚠
- p.Asp1771Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp1943His Multiple submitters ⚠
- p.Asp1955Asn Multiple submitters congenital stationary night blindness 2A ⚠
- p.Asp422Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp701Tyr Multiple submitters ⚠
- p.Cys1494Phe Multiple submitters Inborn genetic diseases ⚠
- p.Cys29Gly Multiple submitters ⚠
- p.Gln1751His Multiple submitters ⚠
- p.Glu1629Ala Multiple submitters congenital stationary night blindness 2A ⚠
- p.Glu330Lys Multiple submitters ⚠
- p.Glu346Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu799Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly1123Asp Multiple submitters ⚠
- p.Gly1270Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Gly1384Arg Multiple submitters ⚠
- p.Gly150Arg Multiple submitters X-linked cone-rod dystrophy 3 ⚠
- p.Gly1703Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly23Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly472Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly593Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly815Ser Multiple submitters Inborn genetic diseases ⚠
- p.His1873Asn Multiple submitters ⚠
- p.His627Tyr Multiple submitters ⚠
- p.Ile645Val Multiple submitters ⚠
- p.Leu1045Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1062Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu243Phe Multiple submitters ⚠
- p.Lys1311Thr Multiple submitters ⚠
- p.Lys8Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met1378Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met320Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met565Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met721Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe318Ser Multiple submitters Inborn genetic diseases ⚠
- p.Phe585Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro1167Leu Multiple submitters ⚠
- p.Pro1785Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser644Tyr Multiple submitters congenital stationary night blindness 2A ⚠
- p.Thr1245Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr1437Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr1509Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr1625Pro Multiple submitters ⚠
- p.Thr532Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr562Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr1769His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr713His Multiple submitters Inborn genetic diseases ⚠
- p.Val1341Met Multiple submitters inherited retinal dystrophy ⚠
- p.Val1362Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val1498Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val370Ile Multiple submitters X-linked cone-rod dystrophy 3 ⚠
- p.Val723Met Multiple submitters ⚠
- c.1014+8G>A Single submitter
- c.1118+3G>A Single submitter
- c.1276+21C>T Single submitter Inborn genetic diseases ⚠
- c.1276+22G>A Single submitter ⚠
- c.1276+22G>C Single submitter ⚠
- c.1276+24G>A Single submitter Inborn genetic diseases ⚠
- c.1276+33C>T Single submitter ⚠
- c.1276+39C>A Single submitter
- c.1276+39C>T Single submitter
- c.1276+8G>T Single submitter ⚠
- c.1369+3G>A Single submitter
- c.1369+3G>T Single submitter
- c.1369+5G>C Single submitter
- c.1463+6G>A Single submitter X-linked cone-rod dystrophy 3
- c.1490+3G>A Single submitter
- c.1651+6C>T Single submitter
- c.2206+24_2207-9del Single submitter X-linked cone-rod dystrophy 3
- c.2288+5G>A Single submitter
- c.2543+2T>C Single submitter Inborn genetic diseases
- c.2733+3G>A Single submitter
- c.2733+5C>T Single submitter
- c.2841-10C>G Single submitter
- c.2928+3A>G Single submitter
- c.2928+3A>T Single submitter
- c.3089+3G>C Single submitter
- c.3236+5G>A Single submitter congenital stationary night blindness 2A
- c.3438+5C>A Single submitter
- c.3708+4G>T Single submitter
- c.3793-3C>A Single submitter
- c.3813+4G>A Single submitter
- c.3942+6C>T Single submitter
- c.4008+6T>C Single submitter
- c.4100+6A>G Single submitter
- c.4101-13T>C Single submitter
- c.4101-3C>A Single submitter
- c.4485+3C>G Single submitter
- c.4588+3G>T Single submitter
- c.4588+9G>T Single submitter
- c.4690+4dup Single submitter
- c.4690+6C>T Single submitter
- c.4821+4T>G Single submitter
- c.5124-3C>G Single submitter
- c.5232-3C>T Single submitter
- c.5670+14G>A Single submitter
- c.5670+2_5670+3del Single submitter
- c.5670+3G>A Single submitter
- c.664+9C>T Single submitter
- c.817+3T>C Single submitter
- c.817+5G>C Single submitter
- p.Ala1004Thr Single submitter ⚠
- p.Ala1022Asp Single submitter ⚠
- p.Ala104Val Single submitter ⚠
- p.Ala1064Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1067Gly Single submitter ⚠
- p.Ala1079Val Single submitter ⚠
- p.Ala1114Ser Single submitter ⚠
- p.Ala1153Asp Single submitter congenital stationary night blindness 2A ⚠
- p.Ala1210Asp Single submitter Inborn genetic diseases ⚠
- p.Ala123Ser Single submitter inherited retinal dystrophy ⚠
- p.Ala123Thr Single submitter ⚠
- p.Ala1361Thr Single submitter ⚠
- p.Ala1473Val Single submitter ⚠
- p.Ala1518Pro Single submitter ⚠
- p.Ala1518Val Single submitter ⚠
- p.Ala1598Thr Single submitter ⚠
- p.Ala1599Val Single submitter ⚠
- p.Ala1605Thr Single submitter ⚠
- p.Ala1702Thr Single submitter ⚠
- p.Ala1702Val Single submitter ⚠
- p.Ala1713Ser Single submitter ⚠
- p.Ala1752Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1786Thr Single submitter ⚠
- p.Ala1848Thr Single submitter ⚠
- p.Ala1890Thr Single submitter ⚠
- p.Ala1908Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1910Asp Single submitter ⚠
- p.Ala1961Ser Single submitter ⚠
- p.Ala1965Thr Single submitter ⚠
- p.Ala204Thr Single submitter ⚠
- p.Ala207Val Single submitter ⚠
- p.Ala241Gly Single submitter ⚠
- p.Ala284Gly Single submitter ⚠
- p.Ala284Thr Single submitter ⚠
- p.Ala291Thr Single submitter ⚠
- p.Ala319Ser Single submitter ⚠
- p.Ala319Thr Single submitter ⚠
- p.Ala411Thr Single submitter ⚠
- p.Ala430Ser Single submitter Inborn genetic diseases ⚠
- p.Ala457Val Single submitter Inborn genetic diseases ⚠
- p.Ala480Val Single submitter ⚠
- p.Ala523Val Single submitter ⚠
- p.Ala576Thr Single submitter ⚠
- p.Ala604Thr Single submitter ⚠
- p.Ala646Pro Single submitter ⚠
- p.Ala71Thr Single submitter ⚠
- p.Ala746Pro Single submitter ⚠
- p.Ala790Gly Single submitter ⚠
- p.Ala878Val Single submitter ⚠
- p.Ala885Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1043Trp Single submitter ⚠
- p.Arg1047Gln Single submitter ⚠
- p.Arg1049Leu Single submitter ⚠
- p.Arg1099Gly Single submitter ⚠
- p.Arg1147Cys Single submitter ⚠
- p.Arg1147Pro Single submitter ⚠
- p.Arg1160Pro Single submitter ⚠
- p.Arg1161His Single submitter ⚠
- p.Arg1161Leu Single submitter ⚠
- p.Arg1161Pro Single submitter ⚠
- p.Arg1171Gly Single submitter ⚠
- p.Arg1171Pro Single submitter ⚠
- p.Arg1171Ser Single submitter ⚠
- p.Arg1278Leu Single submitter ⚠
- p.Arg1288Gln Single submitter ⚠
- p.Arg1288Pro Single submitter inherited retinal dystrophy ⚠
- p.Arg1303His Single submitter ⚠
- p.Arg1351Gln Single submitter ⚠
- p.Arg1367Trp Single submitter ⚠
- p.Arg1386Gln Single submitter ⚠
- p.Arg1386Trp Single submitter ⚠
- p.Arg1465Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1465His Single submitter ⚠
- p.Arg1477Cys Single submitter ⚠
- p.Arg1477His Single submitter Inborn genetic diseases ⚠
- p.Arg1491Gln Single submitter ⚠
- p.Arg1521Pro Single submitter ⚠
- p.Arg1540Gln Single submitter ⚠
- p.Arg1549Trp Single submitter ⚠
- p.Arg1586Gln Single submitter ⚠
- p.Arg1587Gln Single submitter ⚠
- p.Arg1611Gln Single submitter ⚠
- p.Arg1611Trp Single submitter ⚠
- p.Arg1621Trp Single submitter ⚠
- p.Arg1661Cys Single submitter ⚠
- p.Arg1661His Single submitter ⚠
- p.Arg1662Gln Single submitter ⚠
- p.Arg1662Trp Single submitter ⚠
- p.Arg1709Lys Single submitter ⚠
- p.Arg1744Gln Single submitter ⚠
- p.Arg1744Trp Single submitter inherited retinal dystrophy ⚠
- p.Arg1768Gly Single submitter ⚠
- p.Arg1777His Single submitter Inborn genetic diseases ⚠
- p.Arg1778His Single submitter ⚠
- p.Arg1779His Single submitter ⚠
- p.Arg1788Gln Single submitter ⚠
- p.Arg1788Trp Single submitter ⚠
- p.Arg1799His Single submitter ⚠
- p.Arg1814His Single submitter ⚠
- p.Arg1816Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg1833Gln Single submitter ⚠
- p.Arg1862Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1862Gly Single submitter ⚠
- p.Arg1862His Single submitter ⚠
- p.Arg1902Gln Single submitter ⚠
- p.Arg1902Ter Single submitter
- p.Arg1905Cys Single submitter ⚠
- p.Arg1905His Single submitter ⚠
- p.Arg1950Cys Single submitter ⚠
- p.Arg1950His Single submitter ⚠
- p.Arg1950Leu Single submitter ⚠
- p.Arg206Lys Single submitter ⚠
- p.Arg300His Single submitter ⚠
- p.Arg385Cys Single submitter ⚠
- p.Arg385Leu Single submitter ⚠
- p.Arg392Gly Single submitter ⚠
- p.Arg392Trp Single submitter ⚠
- p.Arg402Gln Single submitter ⚠
- p.Arg402Leu Single submitter ⚠
- p.Arg402Trp Single submitter ⚠
- p.Arg437His Single submitter ⚠
- p.Arg439His Single submitter ⚠
- p.Arg441Cys Single submitter ⚠
- p.Arg448His Single submitter ⚠
- p.Arg448Leu Single submitter Inborn genetic diseases ⚠
- p.Arg486Cys Single submitter ⚠
- p.Arg498His Single submitter ⚠
- p.Arg499Cys Single submitter ⚠
- p.Arg499His Single submitter ⚠
- p.Arg501Cys Single submitter ⚠
- p.Arg502Gln Single submitter ⚠
- p.Arg502Gly Single submitter ⚠
- p.Arg505Gln Single submitter ⚠
- p.Arg505Gly Single submitter ⚠
- p.Arg505Pro Single submitter ⚠
- p.Arg505Trp Single submitter Inborn genetic diseases ⚠
- p.Arg508Trp Single submitter ⚠
- p.Arg512Leu Single submitter ⚠
- p.Arg513Pro Single submitter ⚠
- p.Arg584Cys Single submitter ⚠
- p.Arg617His Single submitter ⚠
- p.Arg67Trp Single submitter ⚠
- p.Arg680Gln Single submitter ⚠
- p.Arg792Ser Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Arg83Trp Single submitter ⚠
- p.Arg850Lys Single submitter X-linked cone-rod dystrophy 3 ⚠
- p.Arg884Gln Single submitter ⚠
- p.Arg889Cys Single submitter ⚠
- p.Arg921Cys Single submitter ⚠
- p.Arg921His Single submitter ⚠
- p.Arg958Gln Single submitter ⚠
- p.Arg958Leu Single submitter ⚠
- p.Arg961Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg964Gln Single submitter ⚠
- p.Arg987= Single submitter
- p.Arg987Gln Single submitter ⚠
- p.Arg987Trp Single submitter ⚠
- p.Asn1053Lys Single submitter inherited retinal dystrophy ⚠
- p.Asn124Asp Single submitter ⚠
- p.Asn1264Ser Single submitter ⚠
- p.Asn1353Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1354del Single submitter congenital stationary night blindness 2A
- p.Asn1354Lys Single submitter ⚠
- p.Asn1513Ser Single submitter ⚠
- p.Asn1536Ser Single submitter ⚠
- p.Asn161Ser Single submitter Inborn genetic diseases ⚠
- p.Asn18Ser Single submitter ⚠