CACNA2D4 — 1385 ClinVar variants
All ClinVar germline CACNA2D4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 574 flagged for review →
4 Pathogenic · 10 Likely pathogenic · 87 Conflicting · 51 Benign · 18 Benign/Likely benign · 448 Likely benign · 767 Uncertain significance
Full CACNA2D4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 574
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 20
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CACNA2D4 p.Ala1112Thr
Conflicting
Single submitter
Inborn genetic diseases
- CACNA2D4 p.Ala232Asp Conflicting Single submitter
-
CACNA2D4 p.Ala26Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA2D4 p.Ala839Val
Conflicting
Single submitter
retinal cone dystrophy 4
-
CACNA2D4 p.Ala964Val
Conflicting
Single submitter
retinal cone dystrophy 4
-
CACNA2D4 p.Arg724Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA2D4 p.Arg797His
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA2D4 p.Arg870Gln
Conflicting
Single submitter
Inborn genetic diseases
- CACNA2D4 p.Asp780Asn Conflicting Single submitter
- CACNA2D4 p.Glu1070Lys Conflicting Single submitter
-
CACNA2D4 p.Glu703Asp
Conflicting
Single submitter
retinal cone dystrophy 4
-
CACNA2D4 p.Glu749Asp
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA2D4 p.Gly683Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA2D4 p.Met130Val
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA2D4 p.Met830Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA2D4 p.Pro1119Leu
Conflicting
Single submitter
retinal cone dystrophy 4
-
CACNA2D4 p.Ser769Arg
Conflicting
Single submitter
retinal cone dystrophy 4
-
CACNA2D4 p.Thr908Met
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA2D4 p.Val336Ile
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA2D4 p.Val842Met
Conflicting
Single submitter
retinal cone dystrophy 4
Predictors lean, ClinVar uncertain 442
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 442
- CACNA2D4 p.Ala1078Val Uncertain significance Multiple submitters
-
CACNA2D4 p.Ala1099Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Ala147Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Ala350Val Uncertain significance Multiple submitters
- CACNA2D4 p.Ala376Val Uncertain significance Multiple submitters
-
CACNA2D4 p.Ala407Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Ala544Val Uncertain significance Multiple submitters
-
CACNA2D4 p.Ala66Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Ala730Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Ala742Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Ala758Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Ala847Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Ala852Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Arg277Gln Uncertain significance Multiple submitters
-
CACNA2D4 p.Arg33Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Arg352Gln Uncertain significance Multiple submitters
-
CACNA2D4 p.Arg355Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Arg355Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Arg426Gln Uncertain significance Multiple submitters
- CACNA2D4 p.Arg441Gly Uncertain significance Multiple submitters
- CACNA2D4 p.Arg441His Uncertain significance Multiple submitters
-
CACNA2D4 p.Arg475Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Arg546Gln Uncertain significance Multiple submitters
-
CACNA2D4 p.Arg628Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Arg697Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Arg697Trp Uncertain significance Multiple submitters
-
CACNA2D4 p.Arg763Trp
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
-
CACNA2D4 p.Arg818Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Arg870Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Asn1028Lys Uncertain significance Multiple submitters
- CACNA2D4 p.Asn192Asp Uncertain significance Multiple submitters
- CACNA2D4 p.Asn558Ser Uncertain significance Multiple submitters
- CACNA2D4 p.Asp1108Ala Uncertain significance Multiple submitters
-
CACNA2D4 p.Asp275Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Asp334Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Asp405Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Asp410Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Asp534Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Asp569Glu Uncertain significance Multiple submitters
-
CACNA2D4 p.Asp643Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Asp684Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Asp693Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Asp796Ala Uncertain significance Multiple submitters
-
CACNA2D4 p.Asp796Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Asp987Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Cys1033Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Cys718Gly Uncertain significance Multiple submitters
-
CACNA2D4 p.Cys872Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Cys872Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Gln500Arg Uncertain significance Multiple submitters
-
CACNA2D4 p.Gln599Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Glu139Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Glu149Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Glu520Lys Uncertain significance Multiple submitters
-
CACNA2D4 p.Glu539Asp
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
- CACNA2D4 p.Glu593Lys Uncertain significance Multiple submitters
-
CACNA2D4 p.Glu658Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Glu720Lys Uncertain significance Multiple submitters
- CACNA2D4 p.Glu721Asp Uncertain significance Multiple submitters
-
CACNA2D4 p.Glu789Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Glu824Lys Uncertain significance Multiple submitters
-
CACNA2D4 p.Glu884Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Glu971Asp
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
- CACNA2D4 p.Glu991Lys Uncertain significance Multiple submitters
-
CACNA2D4 p.Gly1111Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Gly119Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Gly250Arg Uncertain significance Multiple submitters
-
CACNA2D4 p.Gly304Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Gly406Ser
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
-
CACNA2D4 p.Gly525Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Gly553Arg Uncertain significance Multiple submitters
-
CACNA2D4 p.Gly649Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Gly811Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Gly822Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Gly85Ser
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
- CACNA2D4 p.Gly897Arg Uncertain significance Multiple submitters
- CACNA2D4 p.His481Arg Uncertain significance Multiple submitters
-
CACNA2D4 p.His696Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Ile330Thr Uncertain significance Multiple submitters
-
CACNA2D4 p.Ile346Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Ile660Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Ile660Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Leu230Phe Uncertain significance Multiple submitters
- CACNA2D4 p.Leu365Ser Uncertain significance Multiple submitters
-
CACNA2D4 p.Leu496Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Leu565Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Leu766Ile Uncertain significance Multiple submitters
- CACNA2D4 p.Lys1004Gln Uncertain significance Multiple submitters
-
CACNA2D4 p.Lys1075Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Lys359Ile Uncertain significance Multiple submitters
- CACNA2D4 p.Lys698Asn Uncertain significance Multiple submitters
-
CACNA2D4 p.Met401Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Met477Val Uncertain significance Multiple submitters
- CACNA2D4 p.Met607Val Uncertain significance Multiple submitters
-
CACNA2D4 p.Met736Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Met830Ile Uncertain significance Multiple submitters
- CACNA2D4 p.Met856Val Uncertain significance Multiple submitters
-
CACNA2D4 p.Met934Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Pro12Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Pro210Leu Uncertain significance Multiple submitters
- CACNA2D4 p.Pro413Leu Uncertain significance Multiple submitters
-
CACNA2D4 p.Pro41Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Pro572Thr Uncertain significance Multiple submitters
- CACNA2D4 p.Pro622Leu Uncertain significance Multiple submitters
-
CACNA2D4 p.Pro645Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Pro677Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Pro786Ala Uncertain significance Multiple submitters
- CACNA2D4 p.Pro799Leu Uncertain significance Multiple submitters
-
CACNA2D4 p.Pro878Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Pro957Leu
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
-
CACNA2D4 p.Ser1113Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Ser1118Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Ser499Leu Uncertain significance Multiple submitters
-
CACNA2D4 p.Ser51Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Ser825Gly Uncertain significance Multiple submitters
-
CACNA2D4 p.Ser882Thr
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
-
CACNA2D4 p.Ser905Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Ser944Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Ser984Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Ser984Tyr Uncertain significance Multiple submitters
- CACNA2D4 p.Thr1013Arg Uncertain significance Multiple submitters
- CACNA2D4 p.Thr253Ala Uncertain significance Multiple submitters
- CACNA2D4 p.Thr265Ser Uncertain significance Multiple submitters
- CACNA2D4 p.Thr313Ala Uncertain significance Multiple submitters
-
CACNA2D4 p.Thr320Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Thr639Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Thr665Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Thr833Met
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
-
CACNA2D4 p.Thr921Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Thr963Met Uncertain significance Multiple submitters
- CACNA2D4 p.Tyr166Asp Uncertain significance Multiple submitters
- CACNA2D4 p.Tyr259Cys Uncertain significance Multiple submitters
-
CACNA2D4 p.Tyr430His
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
-
CACNA2D4 p.Tyr937Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Val1067Met Uncertain significance Multiple submitters
- CACNA2D4 p.Val235Leu Uncertain significance Multiple submitters
-
CACNA2D4 p.Val298Met
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
- CACNA2D4 p.Val348Ile Uncertain significance Multiple submitters
-
CACNA2D4 p.Val373Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Val408Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Val42Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Val472Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Val650Met Uncertain significance Multiple submitters
-
CACNA2D4 p.Val667Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Val754Met
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- CACNA2D4 p.Val773Gly Uncertain significance Multiple submitters
-
CACNA2D4 p.Val773Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Val792Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Val854Ile Uncertain significance Multiple submitters
-
CACNA2D4 p.Val875Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
Predictors split 112
The independent predictors disagree with each other — read with care.
- CACNA2D4 p.Ala1071Val Uncertain significance Multiple submitters
-
CACNA2D4 p.Ala140Val
Benign/Likely benign
Multiple submitters
retinal cone dystrophy 4
-
CACNA2D4 p.Ala555Thr
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
-
CACNA2D4 p.Arg1084Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Arg135Trp
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
-
CACNA2D4 p.Arg279His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Arg441Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Arg546Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Arg571Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Arg571Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Arg654Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Arg724Trp
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
- CACNA2D4 p.Arg797Cys Uncertain significance Multiple submitters
-
CACNA2D4 p.Arg803Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Arg863Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Asn158Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Asn333His
Uncertain significance
Multiple submitters
retinal cone dystrophy 4
-
CACNA2D4 p.Asp484Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Cys1109Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Glu1014Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Gly1110Asp Uncertain significance Multiple submitters
- CACNA2D4 p.Gly1110Ser Uncertain significance Multiple submitters
-
CACNA2D4 p.Gly657Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Gly670Ser Uncertain significance Multiple submitters
-
CACNA2D4 p.Leu198Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Phe256Leu Uncertain significance Multiple submitters
- CACNA2D4 p.Thr454Met Uncertain significance Multiple submitters
-
CACNA2D4 p.Thr665Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA2D4 p.Tyr165Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA2D4 p.Val235Met Uncertain significance Multiple submitters
- CACNA2D4 p.Val840Glu Uncertain significance Multiple submitters
- CACNA2D4 p.Ala331Val Uncertain significance Single submitter
- CACNA2D4 p.Ala460Val Uncertain significance Single submitter
- CACNA2D4 p.Ala66Glu Uncertain significance Single submitter
- CACNA2D4 p.Arg1091His Uncertain significance Single submitter
- CACNA2D4 p.Arg1091Pro Uncertain significance Single submitter
- CACNA2D4 p.Arg1092Trp Uncertain significance Single submitter
- CACNA2D4 p.Arg136Ser Uncertain significance Single submitter
-
CACNA2D4 p.Arg240Gly
Uncertain significance
Single submitter
retinal cone dystrophy 4
- CACNA2D4 p.Arg306Lys Uncertain significance Single submitter
- CACNA2D4 p.Arg575Thr Uncertain significance Single submitter
-
CACNA2D4 p.Arg707Cys
Conflicting
Single submitter
Inborn genetic diseases
- CACNA2D4 p.Asn158Asp Uncertain significance Single submitter
- CACNA2D4 p.Asn172Tyr Uncertain significance Single submitter
- CACNA2D4 p.Asn192Lys Uncertain significance Single submitter
- CACNA2D4 p.Asn278Lys Uncertain significance Single submitter
- CACNA2D4 p.Asn561Lys Uncertain significance Single submitter
- CACNA2D4 p.Asn896Lys Uncertain significance Single submitter
- CACNA2D4 p.Asp1012Val Uncertain significance Single submitter
- CACNA2D4 p.Asp267Gly Uncertain significance Single submitter
- CACNA2D4 p.Asp410Tyr Uncertain significance Single submitter
- CACNA2D4 p.Asp422Val Uncertain significance Single submitter
-
CACNA2D4 p.Asp482Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA2D4 p.Asp598Asn Uncertain significance Single submitter
- CACNA2D4 p.Asp678Glu Uncertain significance Single submitter
- CACNA2D4 p.Asp756Val Uncertain significance Single submitter
- CACNA2D4 p.Asp887Tyr Uncertain significance Single submitter
- CACNA2D4 p.Asp936Glu Uncertain significance Single submitter
- CACNA2D4 p.Cys1109Arg Uncertain significance Single submitter
- CACNA2D4 p.Gln922Leu Uncertain significance Single submitter
- CACNA2D4 p.Glu190Val Uncertain significance Single submitter
- CACNA2D4 p.Glu340Asp Uncertain significance Single submitter
- CACNA2D4 p.Glu717Gly Uncertain significance Single submitter
- CACNA2D4 p.Gly178Ser Uncertain significance Single submitter
- CACNA2D4 p.Gly223Glu Uncertain significance Single submitter
- CACNA2D4 p.Gly369Asp Uncertain significance Single submitter
- CACNA2D4 p.Gly649Glu Uncertain significance Single submitter
- CACNA2D4 p.Gly683Cys Uncertain significance Single submitter
- CACNA2D4 p.His1101Tyr Uncertain significance Single submitter
- CACNA2D4 p.His155Arg Uncertain significance Single submitter
- CACNA2D4 p.His194Gln Uncertain significance Single submitter
- CACNA2D4 p.His471Gln Uncertain significance Single submitter
- CACNA2D4 p.Ile400Met Uncertain significance Single submitter
- CACNA2D4 p.Ile608Thr Uncertain significance Single submitter
- CACNA2D4 p.Leu170Pro Uncertain significance Single submitter
- CACNA2D4 p.Leu189Val Uncertain significance Single submitter
- CACNA2D4 p.Leu347Ile Uncertain significance Single submitter
- CACNA2D4 p.Leu402Ile Uncertain significance Single submitter
- CACNA2D4 p.Leu591Val Uncertain significance Single submitter
- CACNA2D4 p.Leu648Phe Uncertain significance Single submitter
- CACNA2D4 p.Leu675Pro Uncertain significance Single submitter
-
CACNA2D4 p.Leu767Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA2D4 p.Lys106Asn Uncertain significance Single submitter
- CACNA2D4 p.Lys1081Glu Uncertain significance Single submitter
- CACNA2D4 p.Lys1089Asn Uncertain significance Single submitter
- CACNA2D4 p.Lys548Asn Uncertain significance Single submitter
-
CACNA2D4 p.Met492Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA2D4 p.Phe126Leu Uncertain significance Single submitter
-
CACNA2D4 p.Phe187Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA2D4 p.Phe772Leu Uncertain significance Single submitter
- CACNA2D4 p.Phe798Leu Uncertain significance Single submitter
- CACNA2D4 p.Phe891Leu Uncertain significance Single submitter
- CACNA2D4 p.Pro289Ala Uncertain significance Single submitter
- CACNA2D4 p.Pro545Ser Conflicting Single submitter
-
CACNA2D4 p.Pro582Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA2D4 p.Ser203Phe Uncertain significance Single submitter
- CACNA2D4 p.Ser203Tyr Uncertain significance Single submitter
-
CACNA2D4 p.Ser404Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA2D4 p.Ser516Thr Uncertain significance Single submitter
- CACNA2D4 p.Ser616Leu Uncertain significance Single submitter
- CACNA2D4 p.Ser700Arg Uncertain significance Single submitter
- CACNA2D4 p.Ser806Pro Uncertain significance Single submitter
- CACNA2D4 p.Ser812Gly Uncertain significance Single submitter
- CACNA2D4 p.Ser98Pro Uncertain significance Single submitter
-
CACNA2D4 p.Thr243Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA2D4 p.Thr833Ala Uncertain significance Single submitter
- CACNA2D4 p.Thr908Lys Uncertain significance Single submitter
- CACNA2D4 p.Val207Leu Uncertain significance Single submitter
- CACNA2D4 p.Val362Leu Uncertain significance Single submitter
- CACNA2D4 p.Val510Leu Uncertain significance Single submitter
- CACNA2D4 p.Val619Ala Uncertain significance Single submitter
- CACNA2D4 p.Val723Phe Uncertain significance Single submitter
All CACNA2D4 variants
Pathogenic 4
- c.(1719+1_1720-1 Single submitter inherited retinal dystrophy
- p.Asp1060fs Single submitter
- c.1720-74_2551+1189delinsTG No assertion criteria retinal cone dystrophy 4
- p.Gln952Ter No assertion criteria inherited retinal dystrophy
Likely pathogenic 10
- c.1644+1G>A Single submitter retinal cone dystrophy 4
- c.2868+1G>C Single submitter CACNA2D4-related disorder
- p.Ala45fs Single submitter CACNA2D4-related disorder
- p.Asn449fs Single submitter
- p.Asp894fs Single submitter CACNA2D4-related disorder
- p.Glu176Ter Single submitter CACNA2D4-related disorder
- p.Glu323fs Single submitter CACNA2D4-related disorder
- p.Gly393fs Single submitter retinal cone dystrophy 4
- p.Trp264Ter Single submitter CACNA2D4-related disorder
- p.Trp55Ter Single submitter
Conflicting classifications of pathogenicity 87
- c.1272+13C>T Single submitter retinal cone dystrophy 4
- c.1272+14G>A Single submitter retinal cone dystrophy 4
- c.1351+6T>C Single submitter
- c.1352-5C>T Single submitter
- c.1563+11G>A Single submitter retinal cone dystrophy 4
- c.1563+11G>T Single submitter retinal cone dystrophy 4
- c.1807-4del Single submitter
- c.1940+1G>A Single submitter CACNA2D4-related disorder
- c.1941-7C>T Single submitter
- c.2008+3G>A Single submitter
- c.2008+4G>A Single submitter
- c.2008+8G>A Single submitter
- c.2009-1G>C Single submitter CACNA2D4-related disorder
- c.2054+4A>T Single submitter retinal cone dystrophy 4
- c.2152+3G>A Single submitter
- c.2246+11G>A Single submitter retinal cone dystrophy 4
- c.2246+2T>G Single submitter CACNA2D4-related disorder
- c.227+1G>A Single submitter retinal cone dystrophy 4
- c.2470+12C>T Single submitter retinal cone dystrophy 4
- c.2470+2T>C Single submitter CACNA2D4-related disorder
- c.2552-1G>A Single submitter inherited retinal dystrophy
- c.2658+7T>C Single submitter
- c.2868+1G>A Single submitter CACNA2D4-related disorder
- c.2921+1G>A Single submitter CACNA2D4-related disorder
- c.2922-9G>A Single submitter retinal cone dystrophy 4
- c.310-8C>G Single submitter cone-rod dystrophy 6
- c.3310-4G>T Single submitter retinal cone dystrophy 4
- c.487-12C>G Single submitter
- c.843-1G>A Single submitter CACNA2D4-related disorder
- c.994-16C>T Single submitter
- c.*18T>G Single submitter retinal cone dystrophy 4
- p.Ala1112Thr Single submitter Inborn genetic diseases ⚠
- p.Ala232Asp Single submitter ⚠
- p.Ala26Thr Single submitter Inborn genetic diseases ⚠
- p.Ala730= Single submitter retinal cone dystrophy 4
- p.Ala839Val Single submitter retinal cone dystrophy 4 ⚠
- p.Ala964Val Single submitter retinal cone dystrophy 4 ⚠
- p.Arg352Ter Single submitter CACNA2D4-related disorder
- p.Arg522Ter Single submitter CACNA2D4-related disorder
- p.Arg628Ter Single submitter CACNA2D4-related retinopathy
- p.Arg707Cys Single submitter Inborn genetic diseases ⚠
- p.Arg724Gln Single submitter Inborn genetic diseases ⚠
- p.Arg797His Single submitter Inborn genetic diseases ⚠
- p.Arg803fs Single submitter retinal disorder
- p.Arg870Gln Single submitter Inborn genetic diseases ⚠
- p.Asn172fs Single submitter CACNA2D4-related disorder
- p.Asn896= Single submitter retinal cone dystrophy 4
- p.Asp780Asn Single submitter ⚠
- p.Gln142Ter Single submitter CACNA2D4-related disorder
- p.Gln239Ter Single submitter CACNA2D4-related disorder
- p.Gln398Ter Single submitter CACNA2D4-related disorder
- p.Glu1070Lys Single submitter ⚠
- p.Glu593fs Single submitter CACNA2D4-related disorder
- p.Glu703Asp Single submitter retinal cone dystrophy 4 ⚠
- p.Glu749Asp Single submitter Inborn genetic diseases ⚠
- p.Gly406= Single submitter retinal cone dystrophy 4
- p.Gly683Ser Single submitter Inborn genetic diseases ⚠
- p.Gly85= Single submitter retinal cone dystrophy 4
- p.His656= Single submitter retinal cone dystrophy 4
- p.Ile456= Single submitter retinal cone dystrophy 4
- p.Leu183fs Single submitter
- p.Leu25= Single submitter retinal cone dystrophy 4
- p.Leu977fs Single submitter CACNA2D4-related disorder
- p.Lys106= Single submitter retinal cone dystrophy 4
- p.Met130Val Single submitter Inborn genetic diseases ⚠
- p.Met830Thr Single submitter Inborn genetic diseases ⚠
- p.Phe84= Single submitter retinal cone dystrophy 4
- p.Pro1119= Single submitter retinal cone dystrophy 4
- p.Pro1119Leu Single submitter retinal cone dystrophy 4 ⚠
- p.Pro413= Single submitter retinal cone dystrophy 4
- p.Pro545Ser Single submitter ⚠
- p.Ser1116= Single submitter retinal cone dystrophy 4
- p.Ser1118= Single submitter retinal cone dystrophy 4
- p.Ser499= Single submitter retinal cone dystrophy 4
- p.Ser51= Single submitter retinal cone dystrophy 4
- p.Ser642= Single submitter retinal cone dystrophy 4
- p.Ser769Arg Single submitter retinal cone dystrophy 4 ⚠
- p.Thr841= Single submitter retinal cone dystrophy 4
- p.Thr908Met Single submitter Inborn genetic diseases ⚠
- p.Tyr282Ter Single submitter CACNA2D4-related disorder
- p.Tyr411= Single submitter retinal cone dystrophy 4
- p.Tyr469Ter Single submitter CACNA2D4-related disorder
- p.Tyr802Ter Single submitter CACNA2D4-related disorder
- p.Tyr986Ter Single submitter CACNA2D4-related disorder
- p.Val336Ile Single submitter Inborn genetic diseases ⚠
- p.Val530fs Single submitter CACNA2D4-related disorder
- p.Val842Met Single submitter retinal cone dystrophy 4 ⚠
Benign 51
- c.1068+12C>T Multiple submitters retinal cone dystrophy 4
- c.1068+13G>A Multiple submitters retinal cone dystrophy 4
- c.1068+89T>C Multiple submitters retinal cone dystrophy 4
- c.1351+72A>G Multiple submitters retinal cone dystrophy 4
- c.1879-63C>G Multiple submitters retinal cone dystrophy 4
- c.1940+49A>G Multiple submitters retinal cone dystrophy 4
- c.2152+13C>T Multiple submitters retinal cone dystrophy 4
- c.2247-35A>G Multiple submitters retinal cone dystrophy 4
- c.228-215T>C Multiple submitters retinal cone dystrophy 4
- c.2342+92G>T Multiple submitters retinal cone dystrophy 4
- c.2342+96C>A Multiple submitters retinal cone dystrophy 4
- c.2659-37G>A Multiple submitters retinal cone dystrophy 4
- c.2793-15G>A Multiple submitters retinal cone dystrophy 4
- c.310-106A>G Multiple submitters retinal cone dystrophy 4
- c.3310-4G>A Multiple submitters retinal cone dystrophy 4
- c.843-83C>G Multiple submitters retinal cone dystrophy 4
- c.-72C>T Multiple submitters retinal cone dystrophy 4
- c.-91G>A Multiple submitters retinal cone dystrophy 4
- c.*1275T>G Multiple submitters retinal cone dystrophy 4
- c.*1336C>A Multiple submitters retinal cone dystrophy 4
- c.*1360G>A Multiple submitters retinal cone dystrophy 4
- c.*1387G>A Multiple submitters retinal cone dystrophy 4
- c.*1624G>C Multiple submitters retinal cone dystrophy 4
- c.*463G>A Multiple submitters retinal cone dystrophy 4
- c.*467A>G Multiple submitters retinal cone dystrophy 4
- c.*55A>C Multiple submitters retinal cone dystrophy 4
- c.*657G>A Multiple submitters retinal cone dystrophy 4
- p.Ala730Val Multiple submitters retinal cone dystrophy 4
- p.Ala839= Multiple submitters retinal cone dystrophy 4
- p.Arg707His Multiple submitters cone dystrophy 3
- p.Asp729= Multiple submitters retinal cone dystrophy 4
- p.Gly1110= Multiple submitters retinal cone dystrophy 4
- p.His696Arg Multiple submitters retinal cone dystrophy 4
- p.Ile689Val Multiple submitters retinal cone dystrophy 4
- p.Leu679= Multiple submitters retinal cone dystrophy 4
- p.Leu79= Multiple submitters retinal cone dystrophy 4
- p.Phe772= Multiple submitters retinal cone dystrophy 4
- p.Pro622= Multiple submitters retinal cone dystrophy 4
- p.Ser503Asn Multiple submitters retinal cone dystrophy 4
- p.Ser533= Multiple submitters retinal cone dystrophy 4
- p.Thr505= Multiple submitters retinal cone dystrophy 4
- p.Tyr453= Multiple submitters retinal cone dystrophy 4
- c.2054+19dup Single submitter
- c.2471-27_2471-26insG Single submitter retinal cone dystrophy 4
- c.2471-3del Single submitter
- c.781+55_781+56insAAGAC Single submitter retinal cone dystrophy 4
- c.*1217C>G Single submitter retinal cone dystrophy 4
- c.*1556T>C Single submitter retinal cone dystrophy 4
- c.*1557A>C Single submitter retinal cone dystrophy 4
- c.*1596G>A Single submitter retinal cone dystrophy 4
- c.*796G>A Single submitter retinal cone dystrophy 4
Benign/Likely benign 18
- c.1352-17G>A Multiple submitters
- c.1352-19G>A Multiple submitters
- c.1940+15C>T Multiple submitters retinal cone dystrophy 4
- c.227+11C>T Multiple submitters retinal cone dystrophy 4
- c.2921+7G>C Multiple submitters retinal cone dystrophy 4
- c.3310-8G>A Multiple submitters retinal cone dystrophy 4
- c.487-4C>T Multiple submitters retinal cone dystrophy 4
- p.Ala140Val Multiple submitters retinal cone dystrophy 4 ⚠
- p.Ala682= Multiple submitters retinal cone dystrophy 4
- p.Arg279= Multiple submitters retinal cone dystrophy 4
- p.Arg863His Multiple submitters retinal cone dystrophy 4
- p.Asp916Asn Multiple submitters retinal cone dystrophy 4
- p.Phe996Ser Multiple submitters retinal cone dystrophy 4
- p.Pro1022Leu Multiple submitters retinal cone dystrophy 4
- p.Thr833= Multiple submitters
- p.Thr869Met Multiple submitters retinal cone dystrophy 4
- p.Val296= Multiple submitters
- p.Val47Met Multiple submitters retinal cone dystrophy 4
Likely benign 448
Showing the top 300 by review status; the full set is in the sitemap.
- c.1158+13A>G Multiple submitters
- c.1159-16C>T Multiple submitters
- c.1272+13C>A Multiple submitters
- c.1272+17T>G Multiple submitters
- c.1351+8C>T Multiple submitters
- c.1351+9C>T Multiple submitters
- c.1645-16C>T Multiple submitters
- c.1941-14_1941-13del Multiple submitters
- c.2009-18T>C Multiple submitters
- c.2009-3C>T Multiple submitters retinal cone dystrophy 4
- c.2152+14G>A Multiple submitters
- c.2152+8C>G Multiple submitters
- c.2246+19G>T Multiple submitters
- c.2247-18G>A Multiple submitters
- c.2247-19C>T Multiple submitters
- c.2342+12C>T Multiple submitters
- c.2342+13G>A Multiple submitters
- c.2342+18C>T Multiple submitters
- c.2470+13C>G Multiple submitters
- c.2470+14C>T Multiple submitters
- c.2470+15G>A Multiple submitters
- c.2552-15C>T Multiple submitters
- c.2613+14C>T Multiple submitters
- c.2658+13C>T Multiple submitters
- c.2721+9C>T Multiple submitters
- c.2722-10T>C Multiple submitters
- c.2868+13C>T Multiple submitters
- c.2869-9C>T Multiple submitters
- c.2974+11G>A Multiple submitters
- c.2975-7C>T Multiple submitters
- c.2996-8G>T Multiple submitters
- c.3114-17C>T Multiple submitters
- c.3227-11G>A Multiple submitters
- c.3309+19C>G Multiple submitters
- c.486+14C>T Multiple submitters
- c.486+20C>G Multiple submitters
- c.487-16C>T Multiple submitters
- c.842+8C>A Multiple submitters
- c.843-15C>T Multiple submitters
- c.843-9T>C Multiple submitters
- c.*123A>G Multiple submitters retinal cone dystrophy 4
- p.Ala140= Multiple submitters
- p.Ala151= Multiple submitters
- p.Ala407= Multiple submitters
- p.Ala460= Multiple submitters
- p.Ala742= Multiple submitters
- p.Ala826= Multiple submitters
- p.Ala852= Multiple submitters
- p.Ala867Val Multiple submitters
- p.Ala990= Multiple submitters
- p.Arg355= Multiple submitters
- p.Arg724= Multiple submitters
- p.Asn13= Multiple submitters
- p.Asn519= Multiple submitters
- p.Asn634= Multiple submitters
- p.Asp1012Asn Multiple submitters
- p.Asp719= Multiple submitters
- p.Asp788= Multiple submitters
- p.Cys1127= Multiple submitters
- p.Cys883= Multiple submitters retinal cone dystrophy 4
- p.Gln855= Multiple submitters
- p.Gly184= Multiple submitters
- p.Gly86= Multiple submitters
- p.His483= Multiple submitters
- p.His552= Multiple submitters
- p.His753= Multiple submitters
- p.Ile272= Multiple submitters
- p.Ile432Thr Multiple submitters inherited retinal dystrophy
- p.Ile893= Multiple submitters
- p.Leu1053dup Multiple submitters
- p.Leu244= Multiple submitters
- p.Leu652= Multiple submitters
- p.Leu699Phe Multiple submitters retinal cone dystrophy 4
- p.Leu743= Multiple submitters
- p.Leu912= Multiple submitters
- p.Leu969= Multiple submitters
- p.Lys1004= Multiple submitters
- p.Met747Val Multiple submitters retinal cone dystrophy 4
- p.Pro1046= Multiple submitters
- p.Pro1094= Multiple submitters
- p.Pro41= Multiple submitters
- p.Ser299= Multiple submitters
- p.Ser503= Multiple submitters
- p.Ser592= Multiple submitters
- p.Ser930= Multiple submitters
- p.Thr265= Multiple submitters
- p.Thr454= Multiple submitters
- p.Thr458= Multiple submitters
- p.Thr639= Multiple submitters
- p.Thr644= Multiple submitters
- p.Thr665= Multiple submitters
- p.Thr869= Multiple submitters
- p.Thr963= Multiple submitters
- p.Tyr574= Multiple submitters
- p.Tyr986= Multiple submitters
- p.Val372= Multiple submitters
- p.Val531= Multiple submitters
- c.1068+8T>C Single submitter
- c.1069-10C>T Single submitter
- c.1069-8C>A Single submitter
- c.1158+15G>A Single submitter
- c.1158+17G>A Single submitter
- c.1159-11T>C Single submitter
- c.1159-14T>G Single submitter
- c.1159-15C>G Single submitter
- c.1159-19A>C Single submitter
- c.1159-4A>T Single submitter
- c.1159-7T>G Single submitter
- c.1272+14G>C Single submitter
- c.1272+20C>A Single submitter
- c.1272+20C>G Single submitter
- c.1272+9C>T Single submitter
- c.1273-16G>A Single submitter
- c.1273-20C>T Single submitter
- c.1351+10G>A Single submitter
- c.1351+10G>T Single submitter
- c.1351+12G>T Single submitter
- c.1351+8_1351+9del Single submitter
- c.1352-18C>G Single submitter
- c.1352-18C>T Single submitter
- c.1352-20C>T Single submitter
- c.1352-4G>A Single submitter
- c.1485+19C>T Single submitter
- c.1486-19G>C Single submitter
- c.1486-21_1486-20del Single submitter
- c.1486-7C>T Single submitter
- c.1563+10C>T Single submitter
- c.1564-14G>A Single submitter
- c.1564-16G>A Single submitter
- c.1644+10G>C Single submitter
- c.1644+11del Single submitter
- c.1644+9G>T Single submitter
- c.1645-14C>A Single submitter
- c.1645-20_1645-15del Single submitter
- c.1645-6T>C Single submitter
- c.1645-8T>C Single submitter
- c.1719+11_1719+13del Single submitter
- c.1719+19T>C Single submitter
- c.1719+8C>T Single submitter
- c.1806+12A>C Single submitter
- c.1878+11A>G Single submitter
- c.1878+19C>T Single submitter
- c.1879-14G>T Single submitter
- c.1879-18C>A Single submitter
- c.1879-19T>C Single submitter
- c.1879-7C>T Single submitter
- c.1940+10A>C Single submitter
- c.1940+10A>G Single submitter
- c.1940+19A>G Single submitter
- c.1941-10del Single submitter
- c.2008+15G>A Single submitter
- c.2008+18G>A Single submitter
- c.2008+7C>T Single submitter
- c.2009-14G>A Single submitter
- c.2009-15G>T Single submitter
- c.2009-16T>G Single submitter
- c.2009-19A>G Single submitter
- c.2009-8G>T Single submitter
- c.2054+10del Single submitter
- c.2054+14A>G Single submitter
- c.2054+7G>C Single submitter
- c.2055-16C>A Single submitter
- c.2055-16C>G Single submitter
- c.2055-20C>G Single submitter
- c.2153-19C>T Single submitter
- c.2153-20_2153-9dup Single submitter
- c.2246+17A>C Single submitter
- c.2246+20_2246+27del Single submitter
- c.2247-14T>C Single submitter
- c.2247-7C>T Single submitter
- c.227+17A>T Single submitter
- c.227+18C>A Single submitter
- c.227+19C>T Single submitter
- c.228-11T>C Single submitter
- c.2342+9G>T Single submitter
- c.2343-13T>A Single submitter
- c.2343-15T>C Single submitter
- c.2343-20C>G Single submitter
- c.2343-8C>A Single submitter
- c.2470+7C>T Single submitter
- c.2471-12_2471-11del Single submitter
- c.2471-17T>C Single submitter
- c.2471-19G>A Single submitter
- c.2471-19G>T Single submitter
- c.2471-20G>C Single submitter
- c.2551+8C>T Single submitter
- c.2551+9G>A Single submitter
- c.2551+9G>C Single submitter
- c.2552-12T>C Single submitter
- c.2552-13_2552-10del Single submitter
- c.2552-13T>C Single submitter
- c.2552-16T>C Single submitter
- c.2552-7C>T Single submitter
- c.2613+10A>C Single submitter
- c.2613+11T>C Single submitter
- c.2613+15G>A Single submitter
- c.2613+19C>G Single submitter
- c.2614-20G>C Single submitter
- c.2614-9_2614-8insTA Single submitter
- c.2658+14G>A Single submitter
- c.2659-19C>T Single submitter
- c.2721+8A>C Single submitter
- c.2722-11C>T Single submitter
- c.2722-28CT[4] Single submitter
- c.2722-28CT[6] Single submitter
- c.2792+14A>C Single submitter
- c.2792+15C>A Single submitter
- c.2792+18C>T Single submitter
- c.2793-10T>C Single submitter
- c.2793-16C>T Single submitter
- c.2793-7T>C Single submitter
- c.2793-9G>C Single submitter
- c.2869-13C>T Single submitter
- c.2869-16A>G Single submitter
- c.2921+17_2921+18del Single submitter
- c.2921+18C>T Single submitter
- c.2921+19G>C Single submitter
- c.2921+5_2921+16dup Single submitter
- c.2921+7G>A Single submitter
- c.2922-18C>T Single submitter
- c.2922-4A>G Single submitter
- c.2974+10C>T Single submitter
- c.2974+14G>A Single submitter
- c.2974+18C>G Single submitter
- c.2974+7G>A Single submitter
- c.2974+9A>G Single submitter
- c.2975-10T>A Single submitter
- c.2975-14dup Single submitter
- c.2975-18G>A Single submitter
- c.2975-19G>T Single submitter
- c.2975-6G>A Single submitter
- c.2995+8G>C Single submitter
- c.2996-11T>C Single submitter
- c.2996-11T>G Single submitter
- c.2996-16_2996-15del Single submitter
- c.2996-17C>T Single submitter
- c.2996-18T>A Single submitter
- c.2996-9C>T Single submitter
- c.309+16C>G Single submitter
- c.310-16C>T Single submitter
- c.310-20C>G Single submitter
- c.310-7C>G Single submitter
- c.3113+12G>A Single submitter
- c.3113+15C>A Single submitter
- c.3113+16G>T Single submitter
- c.3113+18C>T Single submitter
- c.3113+19G>C Single submitter
- c.3114-16_3114-13del Single submitter
- c.3114-19C>T Single submitter
- c.3226+13G>A Single submitter
- c.3226+16C>T Single submitter
- c.3226+17G>C Single submitter
- c.3226+18G>A Single submitter
- c.3309+15G>A Single submitter
- c.3310-10G>A Single submitter
- c.3310-9C>T Single submitter
- c.426+7C>T Single submitter
- c.426+9G>T Single submitter
- c.427-7C>T Single submitter
- c.427-8T>A Single submitter
- c.486+11C>T Single submitter
- c.486+14C>G Single submitter
- c.487-12C>T Single submitter
- c.487-13C>T Single submitter
- c.649+12_649+13delinsTT Single submitter
- c.649+13C>T Single submitter
- c.650-16_650-15del Single submitter
- c.650-17A>G Single submitter
- c.650-4T>C Single submitter
- c.781+17G>A Single submitter
- c.782-19C>T Single submitter
- c.782-5C>A Single submitter
- c.782-9T>C Single submitter
- c.842+12C>T Single submitter
- c.842+20del Single submitter
- c.993+17G>A Single submitter
- c.993+7G>A Single submitter
- c.-174C>T Single submitter retinal cone dystrophy 4
- c.*1334A>G Single submitter retinal cone dystrophy 4
- c.*1403C>G Single submitter retinal cone dystrophy 4
- c.*1597G>C Single submitter retinal cone dystrophy 4
- p.Ala1023= Single submitter
- p.Ala1078= Single submitter
- p.Ala148= Single submitter
- p.Ala185= Single submitter
- p.Ala20= Single submitter
- p.Ala26= Single submitter
- p.Ala350= Single submitter
- p.Ala52= Single submitter
- p.Ala544= Single submitter
- p.Ala66= Single submitter
- p.Ala680= Single submitter
- p.Ala7Gly Single submitter
- p.Ala851= Single submitter
- p.Ala867= Single submitter
- p.Ala939= Single submitter
- p.Arg1084= Single submitter
- p.Arg174= Single submitter
- p.Arg863= Single submitter
- p.Asn1047= Single submitter
Uncertain significance 767
Showing the top 300 by review status; the full set is in the sitemap.
- c.1272+1G>C Multiple submitters
- c.1644+5G>A Multiple submitters
- c.1719+4G>A Multiple submitters
- c.1940+5G>A Multiple submitters inherited retinal dystrophy
- c.2055-1G>A Multiple submitters inherited retinal dystrophy
- c.2055-3C>T Multiple submitters
- c.2342+5G>T Multiple submitters
- c.2470+3A>G Multiple submitters optic atrophy
- c.2552-3T>C Multiple submitters retinal cone dystrophy 4
- c.2793-3C>T Multiple submitters
- c.2869-12_2869-9del Multiple submitters
- c.3226+1A>G Multiple submitters
- c.3310-5C>A Multiple submitters
- c.427-1G>A Multiple submitters
- c.486+1G>A Multiple submitters
- c.649+5C>T Multiple submitters
- p.Ala1071Val Multiple submitters ⚠
- p.Ala1078Val Multiple submitters ⚠
- p.Ala1099Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1117fs Multiple submitters
- p.Ala147Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala331= Multiple submitters
- p.Ala350Val Multiple submitters ⚠
- p.Ala376Val Multiple submitters ⚠
- p.Ala407Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala544Val Multiple submitters ⚠
- p.Ala555Thr Multiple submitters retinal cone dystrophy 4 ⚠
- p.Ala66Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala730Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala742Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala758Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala847Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala852Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg1084Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg1086Cys Multiple submitters Inborn genetic diseases
- p.Arg1092Gly Multiple submitters
- p.Arg135Trp Multiple submitters retinal cone dystrophy 4 ⚠
- p.Arg277Gln Multiple submitters ⚠
- p.Arg279His Multiple submitters Inborn genetic diseases ⚠
- p.Arg33Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg352Gln Multiple submitters ⚠
- p.Arg355Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg355Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg426Gln Multiple submitters ⚠
- p.Arg426Ter Multiple submitters
- p.Arg441Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg441Gly Multiple submitters ⚠
- p.Arg441His Multiple submitters ⚠
- p.Arg475Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg546Gln Multiple submitters ⚠
- p.Arg546Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg571Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg571Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg628Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg654Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg697Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg697Trp Multiple submitters ⚠
- p.Arg724Trp Multiple submitters retinal cone dystrophy 4 ⚠
- p.Arg763Trp Multiple submitters retinal cone dystrophy 4 ⚠
- p.Arg797Cys Multiple submitters ⚠
- p.Arg803Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg818Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg863Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg870Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn1028Lys Multiple submitters ⚠
- p.Asn1049Thr Multiple submitters Inborn genetic diseases
- p.Asn158Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn192Asp Multiple submitters ⚠
- p.Asn333His Multiple submitters retinal cone dystrophy 4 ⚠
- p.Asn558Ser Multiple submitters ⚠
- p.Asp1108Ala Multiple submitters ⚠
- p.Asp275Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp334Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp405Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp410Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp484Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp534Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp569Glu Multiple submitters ⚠
- p.Asp643Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp684Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp693Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp796Ala Multiple submitters ⚠
- p.Asp796Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp987Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys1033Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Cys1109Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys718Gly Multiple submitters ⚠
- p.Cys872Arg Multiple submitters Inborn genetic diseases ⚠
- p.Cys872Phe Multiple submitters Inborn genetic diseases ⚠
- p.Gln463Leu Multiple submitters
- p.Gln500Arg Multiple submitters ⚠
- p.Gln599Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu1014Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu139Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu149Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu520Lys Multiple submitters ⚠
- p.Glu539Asp Multiple submitters retinal cone dystrophy 4 ⚠
- p.Glu593Lys Multiple submitters ⚠
- p.Glu658Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu720Lys Multiple submitters ⚠
- p.Glu721Asp Multiple submitters ⚠
- p.Glu789Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu824Lys Multiple submitters ⚠
- p.Glu884Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu971Asp Multiple submitters retinal cone dystrophy 4 ⚠
- p.Glu991Lys Multiple submitters ⚠
- p.Gly1110Asp Multiple submitters ⚠
- p.Gly1110Ser Multiple submitters ⚠
- p.Gly1111Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly119Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly250Arg Multiple submitters ⚠
- p.Gly304Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly406Ser Multiple submitters retinal cone dystrophy 4 ⚠
- p.Gly525Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly553Arg Multiple submitters ⚠
- p.Gly613Asp Multiple submitters Inborn genetic diseases
- p.Gly626Arg Multiple submitters
- p.Gly649Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly657Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly670Ser Multiple submitters ⚠
- p.Gly811Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly822Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly85Ser Multiple submitters retinal cone dystrophy 4 ⚠
- p.Gly897Arg Multiple submitters ⚠
- p.His481Arg Multiple submitters ⚠
- p.His696Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile330Thr Multiple submitters ⚠
- p.Ile346Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile660Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile660Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1050Phe Multiple submitters Inborn genetic diseases
- p.Leu1053del Multiple submitters
- p.Leu198Gln Multiple submitters Inborn genetic diseases ⚠
- p.Leu230Phe Multiple submitters ⚠
- p.Leu365Ser Multiple submitters ⚠
- p.Leu496Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu565Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu766Ile Multiple submitters ⚠
- p.Lys1004Gln Multiple submitters ⚠
- p.Lys1075Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys359Ile Multiple submitters ⚠
- p.Lys698Asn Multiple submitters ⚠
- p.Met1Lys Multiple submitters
- p.Met401Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met477Val Multiple submitters ⚠
- p.Met607Val Multiple submitters ⚠
- p.Met736Val Multiple submitters Inborn genetic diseases ⚠
- p.Met830Ile Multiple submitters ⚠
- p.Met856Val Multiple submitters ⚠
- p.Met934Val Multiple submitters Inborn genetic diseases ⚠
- p.Met940Thr Multiple submitters Inborn genetic diseases
- p.Phe256Leu Multiple submitters ⚠
- p.Pro12Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro210Leu Multiple submitters ⚠
- p.Pro413Leu Multiple submitters ⚠
- p.Pro41Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro572Thr Multiple submitters ⚠
- p.Pro622Leu Multiple submitters ⚠
- p.Pro645Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro677Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro786Ala Multiple submitters ⚠
- p.Pro799Leu Multiple submitters ⚠
- p.Pro878Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro957Leu Multiple submitters retinal cone dystrophy 4 ⚠
- p.Ser1113Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser1118Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser499Leu Multiple submitters ⚠
- p.Ser51Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser825Gly Multiple submitters ⚠
- p.Ser882Thr Multiple submitters retinal cone dystrophy 4 ⚠
- p.Ser905Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser944Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser984Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser984Tyr Multiple submitters ⚠
- p.Thr1013Arg Multiple submitters ⚠
- p.Thr253Ala Multiple submitters ⚠
- p.Thr265Ser Multiple submitters ⚠
- p.Thr313Ala Multiple submitters ⚠
- p.Thr320Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr454Met Multiple submitters ⚠
- p.Thr458Met Multiple submitters
- p.Thr521Met Multiple submitters inherited retinal dystrophy
- p.Thr612Ile Multiple submitters Inborn genetic diseases
- p.Thr639Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr665Lys Multiple submitters Inborn genetic diseases ⚠
- p.Thr665Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr833Met Multiple submitters retinal cone dystrophy 4 ⚠
- p.Thr921Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr963Met Multiple submitters ⚠
- p.Tyr165Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr166Asp Multiple submitters ⚠
- p.Tyr259Cys Multiple submitters ⚠
- p.Tyr430His Multiple submitters retinal cone dystrophy 4 ⚠
- p.Tyr937Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val1067Met Multiple submitters ⚠
- p.Val207Met Multiple submitters Inborn genetic diseases
- p.Val235Leu Multiple submitters ⚠
- p.Val235Met Multiple submitters ⚠
- p.Val298Met Multiple submitters retinal cone dystrophy 4 ⚠
- p.Val348Ile Multiple submitters ⚠
- p.Val373Met Multiple submitters Inborn genetic diseases ⚠
- p.Val408Met Multiple submitters Inborn genetic diseases ⚠
- p.Val42Met Multiple submitters Inborn genetic diseases ⚠
- p.Val472Met Multiple submitters Inborn genetic diseases ⚠
- p.Val650Met Multiple submitters ⚠
- p.Val667Met Multiple submitters Inborn genetic diseases ⚠
- p.Val754Met Multiple submitters inherited retinal dystrophy ⚠
- p.Val773Gly Multiple submitters ⚠
- p.Val773Met Multiple submitters Inborn genetic diseases ⚠
- p.Val792Met Multiple submitters Inborn genetic diseases ⚠
- p.Val840Glu Multiple submitters ⚠
- p.Val854Ile Multiple submitters ⚠
- p.Val875Met Multiple submitters Inborn genetic diseases ⚠
- p.Val928Glu Multiple submitters Inborn genetic diseases
- p.Val995Ala Multiple submitters Inborn genetic diseases ⚠
- c.1068+3G>A Single submitter
- c.1069-18A>G Single submitter
- c.1272+11C>T Single submitter retinal cone dystrophy 4
- c.1272+6C>A Single submitter
- c.1485+3G>A Single submitter
- c.1485+5G>A Single submitter
- c.1644+4_1644+5del Single submitter
- c.1644+6C>T Single submitter
- c.1645-3C>A Single submitter
- c.1720-18C>G Single submitter
- c.1720-3C>A Single submitter
- c.1720-3C>T Single submitter
- c.1720-6C>T Single submitter
- c.1806+1G>A Single submitter
- c.1878+6G>A Single submitter
- c.1879-2A>G Single submitter
- c.1879-9C>G Single submitter
- c.1940+3G>A Single submitter
- c.1941-2A>G Single submitter
- c.2055-9G>A Single submitter
- c.2152+4A>G Single submitter
- c.2153-10T>G Single submitter
- c.2153-14T>A Single submitter
- c.2247-1G>A Single submitter
- c.228-6T>G Single submitter
- c.2289_2342+20del Single submitter
- c.2342+1G>A Single submitter
- c.2470+11G>A Single submitter retinal cone dystrophy 4
- c.2471-3C>T Single submitter
- c.2658+1G>A Single submitter
- c.2659-3C>T Single submitter
- c.2721+2T>C Single submitter
- c.2721+3G>A Single submitter
- c.2722-3C>T Single submitter
- c.2793-2A>G Single submitter
- c.2868+4_2868+7del Single submitter
- c.2869-3C>T Single submitter
- c.2921+3G>A Single submitter
- c.2922-8T>A Single submitter
- c.2922-9_2922-8del Single submitter
- c.2974+1G>T Single submitter
- c.2974+6T>C Single submitter
- c.2996-2A>T Single submitter
- c.2996-8_2997del Single submitter
- c.2996-9C>A Single submitter
- c.309+3C>G Single submitter
- c.310-5A>G Single submitter
- c.3113+6A>G Single submitter
- c.3226+11A>G Single submitter
- c.3226+2T>C Single submitter
- c.3226+6C>T Single submitter
- c.3226+6del Single submitter
- c.3309+3G>A Single submitter
- c.3309+4C>T Single submitter
- c.3309+5G>A Single submitter
- c.3309+6G>A Single submitter retinal cone dystrophy 4
- c.3310-1G>A Single submitter
- c.426+1G>A Single submitter
- c.426+6C>T Single submitter
- c.427-14T>C Single submitter
- c.486+6T>C Single submitter
- c.487-1G>C Single submitter
- c.487-3C>T Single submitter
- c.649+14_649+15delinsCT Single submitter
- c.649+4G>A Single submitter
- c.649+5C>A Single submitter
- c.649+6C>T Single submitter
- c.650-15A>C Single submitter
- c.650-2A>G Single submitter
- c.650-7C>G Single submitter
- c.781+2T>A Single submitter
- c.994-3C>T Single submitter
- c.-118G>A Single submitter retinal cone dystrophy 4
- c.-141C>A Single submitter retinal cone dystrophy 4
- c.-151G>T Single submitter retinal cone dystrophy 4
- c.-54G>A Single submitter retinal cone dystrophy 4
- c.*1114G>A Single submitter retinal cone dystrophy 4
- c.*112C>T Single submitter retinal cone dystrophy 4
- c.*1177G>A Single submitter retinal cone dystrophy 4
- c.*1200C>T Single submitter retinal cone dystrophy 4
- c.*1245T>A Single submitter retinal cone dystrophy 4
- c.*1271C>T Single submitter retinal cone dystrophy 4
- c.*1364T>C Single submitter retinal cone dystrophy 4
- c.*1488C>T Single submitter retinal cone dystrophy 4
- c.*1497G>C Single submitter retinal cone dystrophy 4