PCARE — 1205 ClinVar variants
All ClinVar germline PCARE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 581 flagged for review →
99 Pathogenic · 22 Pathogenic/Likely pathogenic · 38 Likely pathogenic · 89 Conflicting · 42 Benign · 17 Benign/Likely benign · 273 Likely benign · 625 Uncertain significance
Full PCARE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 581
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 53
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- PCARE p.Ala111Thr Conflicting Single submitter
-
PCARE p.Ala844Thr
Conflicting
Single submitter
inherited retinal dystrophy
-
PCARE p.Arg1103Gly
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Arg212Gln
Conflicting
Single submitter
inherited retinal dystrophy
-
PCARE p.Arg29Trp
Conflicting
Single submitter
inherited retinal dystrophy
-
PCARE p.Arg320Cys
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Arg320His
Conflicting
Single submitter
inherited retinal dystrophy
- PCARE p.Arg425Gln Conflicting Single submitter
-
PCARE p.Arg528Cys
Conflicting
Single submitter
inherited retinal dystrophy
- PCARE p.Arg613Gln Conflicting Single submitter
-
PCARE p.Arg656Ser
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Arg955Gln
Conflicting
Single submitter
inherited retinal dystrophy
-
PCARE p.Asp1209Gly
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Cys688Tyr
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Gln1020Arg
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Gln1020Lys
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Gln1176Arg
Conflicting
Single submitter
inherited retinal dystrophy
- PCARE p.Gln1245His Conflicting Single submitter
- PCARE p.Gln186Lys Conflicting Single submitter
-
PCARE p.Glu1132Ala
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Glu135Lys
Conflicting
Single submitter
retinitis pigmentosa
- PCARE p.Glu429Lys Conflicting Single submitter
-
PCARE p.Glu847Gln
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Glu935Lys
Conflicting
Single submitter
inherited retinal dystrophy
-
PCARE p.Gly1157Arg
Conflicting
Single submitter
inherited retinal dystrophy
-
PCARE p.Gly120Arg
Conflicting
Single submitter
inherited retinal dystrophy
-
PCARE p.Gly1220Ser
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Gly35Arg
Conflicting
Single submitter
Inborn genetic diseases
- PCARE p.Gly964Ser Conflicting Single submitter
- PCARE p.Leu223Val Conflicting Single submitter
- PCARE p.Leu889Pro Conflicting Single submitter
-
PCARE p.Pro1060Thr
Conflicting
Single submitter
retinitis pigmentosa
- PCARE p.Pro1091Thr Conflicting Single submitter
-
PCARE p.Pro1135Leu
Conflicting
Single submitter
Inborn genetic diseases
- PCARE p.Pro1203Leu Conflicting Single submitter
-
PCARE p.Pro1235Leu
Conflicting
Single submitter
inherited retinal dystrophy
- PCARE p.Pro1265Leu Conflicting Single submitter
-
PCARE p.Pro433Ser
Conflicting
Single submitter
retinitis pigmentosa
- PCARE p.Pro651Ser Conflicting Single submitter
-
PCARE p.Pro867Leu
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Pro989Ala
Conflicting
Single submitter
inherited retinal dystrophy
-
PCARE p.Pro989Thr
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Ser1015Tyr
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Ser1147Leu
Conflicting
Single submitter
Inborn genetic diseases
-
PCARE p.Ser1241Phe
Conflicting
Single submitter
inherited retinal dystrophy
- PCARE p.Thr153Met Conflicting Single submitter
-
PCARE p.Thr592Met
Conflicting
Single submitter
retinitis pigmentosa
-
PCARE p.Thr873Ala
Conflicting
Single submitter
retinitis pigmentosa
- PCARE p.Val14Ile Conflicting Single submitter
-
PCARE p.Val247Ala
Conflicting
Single submitter
retinitis pigmentosa
- PCARE p.Val649Leu Conflicting Single submitter
- PCARE p.Val649Met Conflicting Single submitter
- PCARE p.Val731Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 501
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 501
- PCARE p.Ala1110Thr Uncertain significance Multiple submitters
- PCARE p.Ala1194Gly Uncertain significance Multiple submitters
- PCARE p.Ala1194Val Uncertain significance Multiple submitters
-
PCARE p.Ala324Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PCARE p.Ala374Gly Uncertain significance Multiple submitters
-
PCARE p.Ala478Thr
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Ala53Thr Uncertain significance Multiple submitters
- PCARE p.Ala625Thr Uncertain significance Multiple submitters
-
PCARE p.Ala631Val
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PCARE p.Ala753Thr
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PCARE p.Ala844Pro
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PCARE p.Arg1010Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa 54
- PCARE p.Arg1046Gln Uncertain significance Multiple submitters
- PCARE p.Arg1047Gln Uncertain significance Multiple submitters
-
PCARE p.Arg1177Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
PCARE p.Arg1177Trp
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PCARE p.Arg1197Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
PCARE p.Arg1197His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
PCARE p.Arg1202Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Arg1250Cys Uncertain significance Multiple submitters
- PCARE p.Arg1250His Uncertain significance Multiple submitters
- PCARE p.Arg1268Gln Uncertain significance Multiple submitters
-
PCARE p.Arg212Trp
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PCARE p.Arg315Lys
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Arg521Gln Uncertain significance Multiple submitters
-
PCARE p.Arg528Ser
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Arg531Lys Uncertain significance Multiple submitters
- PCARE p.Arg65Ser Uncertain significance Multiple submitters
- PCARE p.Arg745Lys Uncertain significance Multiple submitters
-
PCARE p.Arg984Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Arg986Gly Uncertain significance Multiple submitters
- PCARE p.Asn67Asp Uncertain significance Multiple submitters
-
PCARE p.Asn857Thr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PCARE p.Asp113Tyr Uncertain significance Multiple submitters
- PCARE p.Asp337Asn Uncertain significance Multiple submitters
- PCARE p.Asp355Glu Uncertain significance Multiple submitters
- PCARE p.Asp372Asn Uncertain significance Multiple submitters
- PCARE p.Cys50Arg Uncertain significance Multiple submitters
- PCARE p.Cys559Phe Uncertain significance Multiple submitters
-
PCARE p.Cys821Tyr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PCARE p.Gln1176Pro Uncertain significance Multiple submitters
- PCARE p.Gln185Glu Uncertain significance Multiple submitters
- PCARE p.Gln272Lys Uncertain significance Multiple submitters
- PCARE p.Gln279His Uncertain significance Multiple submitters
- PCARE p.Gln640Glu Uncertain significance Multiple submitters
- PCARE p.Gln932His Uncertain significance Multiple submitters
- PCARE p.Glu1062Lys Uncertain significance Multiple submitters
- PCARE p.Glu1106Lys Uncertain significance Multiple submitters
-
PCARE p.Glu1226Lys
Uncertain significance
Multiple submitters
retinitis pigmentosa 54
- PCARE p.Glu133Gln Uncertain significance Multiple submitters
- PCARE p.Glu228Asp Uncertain significance Multiple submitters
-
PCARE p.Glu378Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCARE p.Glu485Lys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
PCARE p.Glu491Lys
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Glu494Lys Uncertain significance Multiple submitters
-
PCARE p.Glu550Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PCARE p.Glu568Lys Uncertain significance Multiple submitters
-
PCARE p.Glu59Asp
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PCARE p.Glu60Lys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PCARE p.Glu695Lys Uncertain significance Multiple submitters
-
PCARE p.Glu790Ala
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Glu817Lys Uncertain significance Multiple submitters
-
PCARE p.Glu828Lys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
PCARE p.Glu864Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PCARE p.Glu864Lys Uncertain significance Multiple submitters
- PCARE p.Glu985Gly Uncertain significance Multiple submitters
- PCARE p.Gly1154Ala Uncertain significance Multiple submitters
- PCARE p.Gly1262Arg Uncertain significance Multiple submitters
- PCARE p.Gly1270Ser Uncertain significance Multiple submitters
- PCARE p.Gly172Val Uncertain significance Multiple submitters
- PCARE p.Gly18Ser Uncertain significance Multiple submitters
- PCARE p.Gly290Ser Uncertain significance Multiple submitters
-
PCARE p.Gly342Ser
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Gly462Glu Uncertain significance Multiple submitters
- PCARE p.Gly570Arg Uncertain significance Multiple submitters
- PCARE p.Gly709Arg Uncertain significance Multiple submitters
- PCARE p.Gly866Glu Uncertain significance Multiple submitters
-
PCARE p.Gly938Asp
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PCARE p.Gly938Ser Uncertain significance Multiple submitters
- PCARE p.His306Leu Uncertain significance Multiple submitters
- PCARE p.Ile41Asn Uncertain significance Multiple submitters
-
PCARE p.Ile461Thr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PCARE p.Leu103Pro Uncertain significance Multiple submitters
- PCARE p.Leu1171Pro Uncertain significance Multiple submitters
- PCARE p.Leu328Val Uncertain significance Multiple submitters
- PCARE p.Leu623Pro Uncertain significance Multiple submitters
- PCARE p.Leu666Phe Uncertain significance Multiple submitters
-
PCARE p.Lys1007Asn
Uncertain significance
Multiple submitters
PCARE-related disorder
- PCARE p.Lys1100Gln Uncertain significance Multiple submitters
-
PCARE p.Lys310Asn
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PCARE p.Lys471Glu Uncertain significance Multiple submitters
-
PCARE p.Lys733Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Lys770Arg Uncertain significance Multiple submitters
-
PCARE p.Met500Ile
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Phe129Val Uncertain significance Multiple submitters
- PCARE p.Pro1030Leu Uncertain significance Multiple submitters
-
PCARE p.Pro1051Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PCARE p.Pro1057Ser Uncertain significance Multiple submitters
-
PCARE p.Pro1065Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Pro1074Ser Uncertain significance Multiple submitters
-
PCARE p.Pro1091Ser
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PCARE p.Pro1136Leu Uncertain significance Multiple submitters
- PCARE p.Pro115Leu Uncertain significance Multiple submitters
-
PCARE p.Pro254Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PCARE p.Pro254Thr Uncertain significance Multiple submitters
- PCARE p.Pro260Ser Uncertain significance Multiple submitters
- PCARE p.Pro440Ala Uncertain significance Multiple submitters
- PCARE p.Pro690Thr Uncertain significance Multiple submitters
- PCARE p.Pro779Gln Uncertain significance Multiple submitters
- PCARE p.Pro779Leu Uncertain significance Multiple submitters
- PCARE p.Pro807Arg Uncertain significance Multiple submitters
- PCARE p.Pro831Leu Uncertain significance Multiple submitters
- PCARE p.Pro833Leu Uncertain significance Multiple submitters
-
PCARE p.Pro903Thr
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PCARE p.Ser1085Leu
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Ser108Thr Uncertain significance Multiple submitters
-
PCARE p.Ser1090Leu
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Ser1138Pro Uncertain significance Multiple submitters
- PCARE p.Ser1214Thr Uncertain significance Multiple submitters
-
PCARE p.Ser1276Ala
Uncertain significance
Multiple submitters
PCARE-related disorder
- PCARE p.Ser143Phe Uncertain significance Multiple submitters
- PCARE p.Ser437Cys Uncertain significance Multiple submitters
- PCARE p.Ser498Asn Uncertain significance Multiple submitters
-
PCARE p.Ser517Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
PCARE p.Ser905Asn
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PCARE p.Thr1075Ala Uncertain significance Multiple submitters
-
PCARE p.Thr1119Ile
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PCARE p.Thr1207Asn
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PCARE p.Thr438Arg Uncertain significance Multiple submitters
- PCARE p.Thr509Ala Uncertain significance Multiple submitters
-
PCARE p.Thr729Ala
Uncertain significance
Multiple submitters
retinitis pigmentosa 54
-
PCARE p.Thr741Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PCARE p.Trp380Cys Uncertain significance Multiple submitters
- PCARE p.Tyr299Asp Uncertain significance Multiple submitters
- PCARE p.Val1038Met Uncertain significance Multiple submitters
- PCARE p.Val181Ile Uncertain significance Multiple submitters
- PCARE p.Val242Met Uncertain significance Multiple submitters
- PCARE p.Val359Met Uncertain significance Multiple submitters
- PCARE p.Val463Asp Uncertain significance Multiple submitters
-
PCARE p.Ala1080Val
Uncertain significance
Single submitter
inherited retinal dystrophy
- PCARE p.Ala1126Pro Uncertain significance Single submitter
- PCARE p.Ala1140Thr Uncertain significance Single submitter
- PCARE p.Ala1160Thr Uncertain significance Single submitter
- PCARE p.Ala1251Val Uncertain significance Single submitter
- PCARE p.Ala1280Val Uncertain significance Single submitter
- PCARE p.Ala183Thr Uncertain significance Single submitter
- PCARE p.Ala187Thr Uncertain significance Single submitter
- PCARE p.Ala200Thr Uncertain significance Single submitter
- PCARE p.Ala304Gly Uncertain significance Single submitter
- PCARE p.Ala332Thr Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- PCARE p.Asp840Glu Uncertain significance Multiple submitters
- PCARE p.Gly351Asp Uncertain significance Multiple submitters
- PCARE p.Ile783Thr Likely benign Multiple submitters
- PCARE p.Ser534Ile Benign/Likely benign Multiple submitters
-
PCARE p.Val615Asp
Benign/Likely benign
Multiple submitters
retinitis pigmentosa 54
- PCARE p.Asp840Val Uncertain significance Single submitter
- PCARE p.Cys3Phe Uncertain significance Single submitter
-
PCARE p.Cys3Tyr
Conflicting
Single submitter
C2ORF71 & PCARE-related disorders
-
PCARE p.Cys599Arg
Conflicting
Single submitter
PCARE-related disorder
-
PCARE p.His184Arg
Conflicting
Single submitter
PCARE-related disorder
- PCARE p.His306Pro Uncertain significance Single submitter
- PCARE p.Ile236Ser Uncertain significance Single submitter
- PCARE p.Ile236Thr Uncertain significance Single submitter
- PCARE p.Ile735Phe Uncertain significance Single submitter
- PCARE p.Leu215Arg Uncertain significance Single submitter
-
PCARE p.Leu223Pro
Uncertain significance
Single submitter
inherited retinal dystrophy
-
PCARE p.Leu243Pro
Conflicting
Single submitter
retinitis pigmentosa 54
- PCARE p.Leu251Pro Uncertain significance Single submitter
- PCARE p.Leu300Arg Uncertain significance Single submitter
- PCARE p.Met218Ile Uncertain significance Single submitter
- PCARE p.Met544Arg Uncertain significance Single submitter
- PCARE p.Phe738Leu Uncertain significance Single submitter
- PCARE p.Phe843Leu Uncertain significance Single submitter
- PCARE p.Pro217Thr Uncertain significance Single submitter
- PCARE p.Tyr188Asp Uncertain significance Single submitter
- PCARE p.Val555Asp Uncertain significance Single submitter
-
PCARE p.Gly240Arg
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All PCARE variants
Pathogenic 99
- p.Ala628fs Multiple submitters C2ORF71 & PCARE-related disorders
- p.Arg425Ter Multiple submitters retinitis pigmentosa 54
- p.Arg613Ter Multiple submitters PCARE-related disorder
- p.Arg984Ter Multiple submitters inherited retinal dystrophy
- p.Asn316fs Multiple submitters C2ORF71 & PCARE-related disorders
- p.Cys160Ter Multiple submitters PCARE-related retinopathy
- p.Gln268Ter Multiple submitters PCARE-related disorder
- p.Gln410fs Multiple submitters retinitis pigmentosa
- p.Gln610Ter Multiple submitters
- p.Glu259fs Multiple submitters retinitis pigmentosa
- p.Gly570fs Multiple submitters inherited retinal dystrophy
- p.His1120fs Multiple submitters inherited retinal dystrophy
- p.His603fs Multiple submitters cone-rod dystrophy
- p.Leu1130fs Multiple submitters PCARE-related disorder
- p.Leu744fs Multiple submitters
- p.Leu889fs Multiple submitters C2ORF71-related disorders
- p.Lys257fs Multiple submitters retinitis pigmentosa 54
- p.Lys902Ter Multiple submitters retinitis pigmentosa 54
- p.Lys919fs Multiple submitters PCARE-related disorder
- p.Pro514fs Multiple submitters inherited retinal dystrophy
- p.Pro927fs Multiple submitters PCARE-related disorder
- p.Ser1063fs Multiple submitters retinitis pigmentosa 54
- p.Thr509fs Multiple submitters C2ORF71 & PCARE-related disorders
- p.Trp650Ter Multiple submitters C2ORF71 & PCARE-related disorders
- p.Val990fs Multiple submitters
- p.Ala755delinsGlyLeuTer Single submitter
- p.Arg1017Ter Single submitter
- p.Arg1047Ter Single submitter
- p.Arg38Ter Single submitter
- p.Arg577fs Single submitter
- p.Arg614fs Single submitter
- p.Asp1104_Ser1105insTer Single submitter
- p.Asp239fs Single submitter
- p.Asp88fs Single submitter
- p.Asp890fs Single submitter
- p.Cys403fs Single submitter PCARE-related disorder
- p.Cys503Ter Single submitter
- p.Cys50fs Single submitter
- p.Cys75fs Single submitter
- p.Gln1176Ter Single submitter inherited retinal dystrophy
- p.Gln269Ter Single submitter
- p.Gln327Ter Single submitter
- p.Gln392Ter Single submitter
- p.Gln506Ter Single submitter
- p.Gln610fs Single submitter
- p.Glu1062Ter Single submitter
- p.Glu133_Ser134insTer Single submitter
- p.Glu133fs Single submitter
- p.Glu133Ter Single submitter inherited retinal dystrophy
- p.Glu227Ter Single submitter
- p.Glu241Ter Single submitter
- p.Glu249Ter Single submitter PCARE-related disorder
- p.Glu357Ter Single submitter
- p.Glu836Ter Single submitter
- p.Glu974fs Single submitter
- p.Gly394Ter Single submitter
- p.Gly407fs Single submitter
- p.His691fs Single submitter
- p.Leu1181fs Single submitter
- p.Leu191fs Single submitter inherited retinal dystrophy
- p.Leu328fs Single submitter
- p.Leu481fs Single submitter
- p.Leu502fs Single submitter
- p.Leu777fs Single submitter
- p.Leu808fs Single submitter
- p.Lys1114fs Single submitter
- p.Lys173Ter Single submitter
- p.Lys238Ter Single submitter retinitis pigmentosa
- p.Lys716fs Single submitter
- p.Met746fs Single submitter
- p.Ser1031fs Single submitter
- p.Ser1090fs Single submitter
- p.Ser1138Ter Single submitter
- p.Ser130fs Single submitter
- p.Ser276fs Single submitter inherited retinal dystrophy
- p.Ser445fs Single submitter
- p.Ser885_Val886insTer Single submitter
- p.Ser987fs Single submitter
- p.Thr153fs Single submitter
- p.Thr163fs Single submitter
- p.Thr572fs Single submitter
- p.Thr930fs Single submitter
- p.Thr997fs Single submitter inherited retinal dystrophy
- p.Thr999fs Single submitter
- p.Trp1163Ter Single submitter
- p.Trp371Ter Single submitter
- p.Trp397Ter Single submitter
- p.Tyr190fs Single submitter inherited retinal dystrophy
- p.Tyr190Ter Single submitter inherited retinal dystrophy
- p.Val1034fs Single submitter
- p.Val275fs Single submitter
- p.Val657fs Single submitter
- p.Val886fs Single submitter
- p.Gln186Ter No assertion criteria retinitis pigmentosa
- p.Leu827fs No assertion criteria inherited retinal dystrophy
- p.Phe459fs No assertion criteria Autosomal recessive retinitis pigmentosa
- p.Ser1014fs No assertion criteria Cone-rod dystrophy 23
- p.Trp253Ter No assertion criteria retinitis pigmentosa 54
- p.Trp380Ter No assertion criteria inherited retinal dystrophy
Pathogenic/Likely pathogenic 22
- p.Arg1202Ter Multiple submitters Retinitis pigmentosa with macular involvement
- p.Arg767fs Multiple submitters
- p.Cys346_Ser347insTer Multiple submitters PCARE-related disorder
- p.Gln1097Ter Multiple submitters retinitis pigmentosa 54
- p.Gln686Ter Multiple submitters C2ORF71 & PCARE-related disorders
- p.Gln696Ter Multiple submitters PCARE-related disorder
- p.Gln932fs Multiple submitters PCARE-related disorder
- p.Glu1062fs Multiple submitters C2ORF71 & PCARE-related disorders
- p.Gly131Ter Multiple submitters PCARE-related disorder
- p.His395fs Multiple submitters retinitis pigmentosa 54
- p.Leu307Ter Multiple submitters inherited retinal dystrophy
- p.Met794fs Multiple submitters retinitis pigmentosa 54
- p.Pro1051fs Multiple submitters C2ORF71 & PCARE-related disorders
- p.Pro989fs Multiple submitters retinal disorder
- p.Ser1116fs Multiple submitters PCARE-related disorder
- p.Ser134fs Multiple submitters inherited retinal dystrophy
- p.Ser516fs Multiple submitters retinitis pigmentosa 54
- p.Ser973fs Multiple submitters PCARE-related disorder
- p.Trp1001Ter Multiple submitters retinitis pigmentosa
- p.Trp564Ter Multiple submitters C2ORF71 & PCARE-related disorders
- p.Trp720Ter Multiple submitters retinitis pigmentosa 54
- p.Trp941Ter Multiple submitters retinitis pigmentosa
Likely pathogenic 38
- c.3668+2T>C Multiple submitters inherited retinal dystrophy
- p.Gly964fs Multiple submitters PCARE-related disorder
- p.Thr662fs Multiple submitters retinitis pigmentosa 54
- p.Trp877fs Multiple submitters retinitis pigmentosa 54
- p.Arg1037fs Single submitter retinitis pigmentosa 54
- p.Arg315_Asn316insThrLysArg Single submitter retinitis pigmentosa 54
- p.Arg320fs Single submitter retinitis pigmentosa 54
- p.Arg918fs Single submitter C2ORF71 & PCARE-related disorders
- p.Cys599Ter Single submitter PCARE-related disorder
- p.Cys725Ter Single submitter PCARE-related disorder
- p.Gln216Ter Single submitter C2ORF71-related disorders
- p.Gln538Ter Single submitter retinitis pigmentosa 54
- p.Gln782Ter Single submitter C2ORF71-related disorders
- p.Glu1106Ter Single submitter inherited retinal dystrophy
- p.Glu597fs Single submitter C2ORF71 & PCARE-related disorders
- p.Lys144Ter Single submitter retinitis pigmentosa 54
- p.Lys632Ter Single submitter retinitis pigmentosa 54
- p.Lys698Ter Single submitter inherited retinal dystrophy
- p.Lys860fs Single submitter PCARE-related disorder
- p.Lys946Ter Single submitter PCARE-related disorder
- p.Phe1131fs Single submitter PCARE-related disorder
- p.Pro1083fs Single submitter PCARE-related disorder
- p.Pro588_Glu589insTer Single submitter retinitis pigmentosa
- p.Pro807fs Single submitter retinitis pigmentosa 54
- p.Pro809fs Single submitter retinitis pigmentosa 54
- p.Ser17fs Single submitter PCARE-related disorder
- p.Ser820fs Single submitter retinitis pigmentosa
- p.Thr438fs Single submitter PCARE-related disorder
- p.Trp1170Ter Single submitter PCARE-related disorder
- p.Trp505Ter Single submitter C2ORF71-related disorders
- p.Trp798Ter Single submitter
- p.Tyr1016_Arg1017delinsTer Single submitter retinitis pigmentosa 54
- p.Val555fs Single submitter retinitis pigmentosa 54
- p.Gln410Ter No assertion criteria retinitis pigmentosa 54
- p.Gly709fs No assertion criteria retinitis pigmentosa
- p.Pro1242fs No assertion criteria inherited retinal dystrophy
- p.Pro996fs No assertion criteria retinitis pigmentosa
- p.Thr1044fs No assertion criteria inherited retinal dystrophy
Conflicting classifications of pathogenicity 89
- c.3669-5_3669-3dup Single submitter
- c.*1425C>T Single submitter retinitis pigmentosa
- c.*2562G>C Single submitter retinitis pigmentosa
- p.Ala111Thr Single submitter ⚠
- p.Ala844Thr Single submitter inherited retinal dystrophy ⚠
- p.Arg1103Gly Single submitter retinitis pigmentosa ⚠
- p.Arg1177= Single submitter retinitis pigmentosa
- p.Arg212Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg29Trp Single submitter inherited retinal dystrophy ⚠
- p.Arg320Cys Single submitter retinitis pigmentosa ⚠
- p.Arg320His Single submitter inherited retinal dystrophy ⚠
- p.Arg425Gln Single submitter ⚠
- p.Arg528Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg613Gln Single submitter ⚠
- p.Arg656Ser Single submitter retinitis pigmentosa ⚠
- p.Arg955Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg984= Single submitter
- p.Asp1209Gly Single submitter retinitis pigmentosa ⚠
- p.Cys1240fs Single submitter
- p.Cys3Tyr Single submitter C2ORF71 & PCARE-related disorders ⚠
- p.Cys599Arg Single submitter PCARE-related disorder ⚠
- p.Cys688Tyr Single submitter retinitis pigmentosa ⚠
- p.Gln1020Arg Single submitter retinitis pigmentosa ⚠
- p.Gln1020Lys Single submitter retinitis pigmentosa ⚠
- p.Gln1097= Single submitter retinitis pigmentosa
- p.Gln1176Arg Single submitter inherited retinal dystrophy ⚠
- p.Gln1245His Single submitter ⚠
- p.Gln186Lys Single submitter ⚠
- p.Gln33= Single submitter retinitis pigmentosa
- p.Gln515= Single submitter retinitis pigmentosa
- p.Gln782= Single submitter
- p.Glu1132Ala Single submitter retinitis pigmentosa ⚠
- p.Glu135Lys Single submitter retinitis pigmentosa ⚠
- p.Glu429Lys Single submitter ⚠
- p.Glu847Gln Single submitter retinitis pigmentosa ⚠
- p.Glu935Lys Single submitter inherited retinal dystrophy ⚠
- p.Gly1157Arg Single submitter inherited retinal dystrophy ⚠
- p.Gly120Arg Single submitter inherited retinal dystrophy ⚠
- p.Gly1220Ser Single submitter retinitis pigmentosa ⚠
- p.Gly34= Single submitter inherited retinal dystrophy
- p.Gly35Arg Single submitter Inborn genetic diseases ⚠
- p.Gly405= Single submitter retinitis pigmentosa
- p.Gly964Ser Single submitter ⚠
- p.His1271= Single submitter
- p.His184Arg Single submitter PCARE-related disorder ⚠
- p.Ile1272= Single submitter retinitis pigmentosa
- p.Ile958= Single submitter retinitis pigmentosa
- p.Leu215= Single submitter retinitis pigmentosa
- p.Leu223Val Single submitter ⚠
- p.Leu243Pro Single submitter retinitis pigmentosa 54 ⚠
- p.Leu808= Single submitter retinitis pigmentosa
- p.Leu889Pro Single submitter ⚠
- p.Lys937= Single submitter inherited retinal dystrophy
- p.Lys956= Single submitter inherited retinal dystrophy
- p.Pro1060Thr Single submitter retinitis pigmentosa ⚠
- p.Pro1091Thr Single submitter ⚠
- p.Pro1135Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1203Leu Single submitter ⚠
- p.Pro1235= Single submitter retinitis pigmentosa
- p.Pro1235Leu Single submitter inherited retinal dystrophy ⚠
- p.Pro1265Leu Single submitter ⚠
- p.Pro177Leu Single submitter
- p.Pro179= Single submitter retinitis pigmentosa
- p.Pro433Ser Single submitter retinitis pigmentosa ⚠
- p.Pro651Ser Single submitter ⚠
- p.Pro806= Single submitter retinitis pigmentosa
- p.Pro834= Single submitter inherited retinal dystrophy
- p.Pro867Leu Single submitter retinitis pigmentosa ⚠
- p.Pro966= Single submitter inherited retinal dystrophy
- p.Pro989Ala Single submitter inherited retinal dystrophy ⚠
- p.Pro989Thr Single submitter retinitis pigmentosa ⚠
- p.Ser1015Tyr Single submitter retinitis pigmentosa ⚠
- p.Ser1147Leu Single submitter Inborn genetic diseases ⚠
- p.Ser1241Phe Single submitter inherited retinal dystrophy ⚠
- p.Ser382= Single submitter
- p.Thr1269= Single submitter inherited retinal dystrophy
- p.Thr153= Single submitter retinitis pigmentosa
- p.Thr153Met Single submitter ⚠
- p.Thr289= Single submitter retinitis pigmentosa
- p.Thr592Met Single submitter retinitis pigmentosa ⚠
- p.Thr873Ala Single submitter retinitis pigmentosa ⚠
- p.Thr997= Single submitter retinitis pigmentosa
- p.Val1038= Single submitter retinitis pigmentosa
- p.Val14Ile Single submitter ⚠
- p.Val247Ala Single submitter retinitis pigmentosa ⚠
- p.Val465= Single submitter inherited retinal dystrophy
- p.Val649Leu Single submitter ⚠
- p.Val649Met Single submitter ⚠
- p.Val731Ile Single submitter ⚠
Benign 42
- c.3668+14T>C Multiple submitters retinitis pigmentosa
- c.*1065A>G Multiple submitters retinitis pigmentosa
- c.*1226A>G Multiple submitters retinitis pigmentosa
- c.*1371G>A Multiple submitters retinitis pigmentosa
- c.*1542A>G Multiple submitters retinitis pigmentosa
- c.*1663C>T Multiple submitters retinitis pigmentosa
- c.*2022G>A Multiple submitters retinitis pigmentosa
- c.*2104T>C Multiple submitters retinitis pigmentosa
- c.*2160G>A Multiple submitters retinitis pigmentosa
- c.*2279G>A Multiple submitters retinitis pigmentosa
- c.*2481G>A Multiple submitters retinitis pigmentosa
- c.*2525G>A Multiple submitters retinitis pigmentosa
- c.*2585A>G Multiple submitters retinitis pigmentosa
- c.*2670T>C Multiple submitters retinitis pigmentosa
- c.*2754A>G Multiple submitters retinitis pigmentosa
- c.*27G>A Multiple submitters retinitis pigmentosa
- c.*2929T>C Multiple submitters retinitis pigmentosa
- c.*3057C>T Multiple submitters retinitis pigmentosa
- c.*506T>C Multiple submitters retinitis pigmentosa
- c.*508A>G Multiple submitters retinitis pigmentosa
- c.*543C>T Multiple submitters retinitis pigmentosa
- c.*830C>A Multiple submitters retinitis pigmentosa
- p.Ala1280= Multiple submitters retinitis pigmentosa
- p.Ala252Asp Multiple submitters retinitis pigmentosa 54
- p.Ala648Thr Multiple submitters inherited retinal dystrophy
- p.Ala959Thr Multiple submitters retinitis pigmentosa 54
- p.Arg258Ile Multiple submitters retinitis pigmentosa
- p.Arg86= Multiple submitters inherited retinal dystrophy
- p.Asn704= Multiple submitters inherited retinal dystrophy
- p.Gln20= Multiple submitters inherited retinal dystrophy
- p.Glu227Lys Multiple submitters retinitis pigmentosa 54
- p.Leu792Val Multiple submitters retinitis pigmentosa 54
- p.Lys421Arg Multiple submitters inherited retinal dystrophy
- p.Pro1089del Multiple submitters retinitis pigmentosa 54
- p.Pro833= Multiple submitters retinitis pigmentosa 54
- p.Ser13Cys Multiple submitters retinitis pigmentosa
- p.Ser484= Multiple submitters inherited retinal dystrophy
- p.Ser963= Multiple submitters inherited retinal dystrophy
- p.Thr580Met Multiple submitters inherited retinal dystrophy
- p.Val463Phe Multiple submitters retinitis pigmentosa
- c.*1912T>A Single submitter retinitis pigmentosa
- c.*2629G>A Single submitter retinitis pigmentosa
Benign/Likely benign 17
- c.3673_3675dupAGC Multiple submitters inherited retinal dystrophy
- p.Ala628Thr Multiple submitters retinitis pigmentosa
- p.Ala802= Multiple submitters
- p.Asp1174= Multiple submitters retinitis pigmentosa 54
- p.Gly1247Ser Multiple submitters inherited retinal dystrophy
- p.Gly1260= Multiple submitters
- p.Gly407Ser Multiple submitters
- p.His122= Multiple submitters retinitis pigmentosa
- p.Leu1263= Multiple submitters retinitis pigmentosa
- p.Leu321Val Multiple submitters
- p.Pro1149= Multiple submitters retinitis pigmentosa 54
- p.Pro1254Leu Multiple submitters retinitis pigmentosa
- p.Pro62Ala Multiple submitters
- p.Pro867= Multiple submitters
- p.Ser1175= Multiple submitters
- p.Ser534Ile Multiple submitters ⚠
- p.Val615Asp Multiple submitters retinitis pigmentosa 54 ⚠
Likely benign 273
- c.*1704A>G Multiple submitters retinitis pigmentosa
- p.Ala332= Multiple submitters
- p.Ala647= Multiple submitters
- p.Ala753= Multiple submitters
- p.Ala814= Multiple submitters
- p.Asp1107= Multiple submitters
- p.Asp428= Multiple submitters
- p.Asp477= Multiple submitters
- p.Asp52= Multiple submitters
- p.Asp694= Multiple submitters
- p.Asp752= Multiple submitters
- p.Gln601= Multiple submitters
- p.Glu136Gly Multiple submitters inherited retinal dystrophy
- p.Glu249= Multiple submitters
- p.Glu379= Multiple submitters inherited retinal dystrophy
- p.Gly1236= Multiple submitters
- p.Gly1246= Multiple submitters
- p.Gly336= Multiple submitters
- p.His1261= Multiple submitters
- p.Ile684= Multiple submitters
- p.Ile783Thr Multiple submitters ⚠
- p.Ile93= Multiple submitters
- p.Leu10= Multiple submitters
- p.Leu1156= Multiple submitters
- p.Leu293= Multiple submitters
- p.Leu469= Multiple submitters
- p.Leu612Pro Multiple submitters
- p.Leu819= Multiple submitters
- p.Leu922= Multiple submitters
- p.Phe843= Multiple submitters
- p.Pro1013Ala Multiple submitters
- p.Pro1135= Multiple submitters
- p.Pro115= Multiple submitters
- p.Pro1186= Multiple submitters
- p.Pro1265= Multiple submitters
- p.Pro177= Multiple submitters inherited retinal dystrophy
- p.Pro467= Multiple submitters
- p.Pro475= Multiple submitters
- p.Pro575= Multiple submitters
- p.Pro678= Multiple submitters
- p.Pro707= Multiple submitters
- p.Ser1105= Multiple submitters
- p.Ser13= Multiple submitters
- p.Ser154= Multiple submitters
- p.Ser287= Multiple submitters
- p.Ser361= Multiple submitters
- p.Ser534= Multiple submitters
- p.Ser598= Multiple submitters
- p.Ser730= Multiple submitters
- p.Thr592= Multiple submitters
- p.Thr897= Multiple submitters
- p.Val463Ile Multiple submitters
- p.Val555= Multiple submitters
- c.3668+17G>A Single submitter
- c.3668+18G>A Single submitter
- c.3668+20C>T Single submitter
- c.3668+9T>C Single submitter
- c.3669-5_3669-4insCA Single submitter
- c.3669-6_3669-5insA Single submitter
- c.3669-6C>T Single submitter
- c.*1145G>A Single submitter retinitis pigmentosa
- c.*1601G>A Single submitter retinitis pigmentosa
- c.*1742G>C Single submitter retinitis pigmentosa
- c.*1748C>T Single submitter retinitis pigmentosa
- c.*2209G>A Single submitter retinitis pigmentosa
- c.*2293G>C Single submitter retinitis pigmentosa
- c.*2300C>T Single submitter retinitis pigmentosa
- c.*2584C>T Single submitter retinitis pigmentosa
- c.*286G>T Single submitter retinitis pigmentosa
- c.*3041A>G Single submitter retinitis pigmentosa
- c.*686A>T Single submitter retinitis pigmentosa
- c.*778A>T Single submitter retinitis pigmentosa
- c.*983G>A Single submitter retinitis pigmentosa
- p.Ala1113= Single submitter
- p.Ala1126= Single submitter
- p.Ala1140= Single submitter
- p.Ala1173= Single submitter
- p.Ala1180= Single submitter
- p.Ala1183= Single submitter
- p.Ala183= Single submitter
- p.Ala208= Single submitter
- p.Ala27= Single submitter
- p.Ala53= Single submitter
- p.Ala648= Single submitter
- p.Ala775= Single submitter
- p.Ala944= Single submitter
- p.Ala978= Single submitter
- p.Arg1191= Single submitter
- p.Arg1197= Single submitter
- p.Arg1202= Single submitter
- p.Arg408= Single submitter
- p.Arg431= Single submitter
- p.Arg533= Single submitter
- p.Arg571= Single submitter
- p.Arg912= Single submitter
- p.Arg971= Single submitter
- p.Asn104= Single submitter
- p.Asn1222= Single submitter
- p.Asn282= Single submitter
- p.Asn652= Single submitter
- p.Asn661= Single submitter
- p.Asn721= Single submitter
- p.Asn857= Single submitter
- p.Asn970= Single submitter
- p.Asp1006= Single submitter
- p.Asp349= Single submitter
- p.Asp520= Single submitter
- p.Asp618= Single submitter
- p.Asp749= Single submitter
- p.Asp88= Single submitter
- p.Cys1182= Single submitter
- p.Cys1257= Single submitter
- p.Cys160= Single submitter
- p.Cys346= Single submitter
- p.Gln1198= Single submitter
- p.Gln1277= Single submitter
- p.Gln216= Single submitter
- p.Gln506= Single submitter
- p.Gln61= Single submitter
- p.Gln643= Single submitter
- p.Glu1151= Single submitter
- p.Glu348= Single submitter
- p.Glu37= Single submitter
- p.Glu492= Single submitter
- p.Glu605= Single submitter
- p.Glu624= Single submitter
- p.Glu847= Single submitter
- p.Glu856= Single submitter
- p.Glu869= Single submitter
- p.Gly1117= Single submitter
- p.Gly120= Single submitter
- p.Gly1220= Single submitter inherited retinal dystrophy
- p.Gly2= Single submitter
- p.Gly290= Single submitter
- p.Gly295= Single submitter
- p.Gly351= Single submitter
- p.Gly451= Single submitter
- p.Gly460= Single submitter
- p.Gly560= Single submitter
- p.Gly653= Single submitter
- p.Gly724= Single submitter
- p.Gly773= Single submitter
- p.Gly795= Single submitter
- p.Gly825= Single submitter
- p.Gly871= Single submitter
- p.Gly909= Single submitter
- p.Gly911= Single submitter
- p.Gly964= Single submitter
- p.His603= Single submitter
- p.His691= Single submitter
- p.His962= Single submitter
- p.Ile1122= Single submitter
- p.Ile205= Single submitter
- p.Ile28= Single submitter
- p.Ile641= Single submitter
- p.Leu103= Single submitter
- p.Leu1130= Single submitter
- p.Leu1148= Single submitter
- p.Leu1171= Single submitter
- p.Leu1181= Single submitter
- p.Leu1219= Single submitter
- p.Leu1244= Single submitter
- p.Leu191= Single submitter
- p.Leu202= Single submitter
- p.Leu223= Single submitter
- p.Leu224= Single submitter
- p.Leu232= Single submitter
- p.Leu267= Single submitter
- p.Leu270= Single submitter
- p.Leu271= Single submitter
- p.Leu321= Single submitter
- p.Leu373= Single submitter
- p.Leu666= Single submitter
- p.Leu685= Single submitter
- p.Leu827= Single submitter
- p.Leu889= Single submitter
- p.Leu900= Single submitter
- p.Leu924= Single submitter
- p.Lys1045= Single submitter
- p.Lys1069= Single submitter
- p.Lys1100= Single submitter
- p.Lys257= Single submitter
- p.Lys543= Single submitter
- p.Lys622= Single submitter
- p.Lys682= Single submitter
- p.Lys85= Single submitter
- p.Lys860= Single submitter
- p.Lys881= Single submitter
- p.Lys895= Single submitter
- p.Lys919= Single submitter
- p.Lys946= Single submitter
- p.Phe738= Single submitter
- p.Pro1003= Single submitter
- p.Pro1023= Single submitter
- p.Pro1029= Single submitter
- p.Pro1033= Single submitter
- p.Pro1036= Single submitter
- p.Pro1051= Single submitter
- p.Pro1057= Single submitter
- p.Pro1060= Single submitter
- p.Pro1061= Single submitter
- p.Pro1203= Single submitter
- p.Pro264= Single submitter
- p.Pro377= Single submitter
- p.Pro524= Single submitter
- p.Pro607= Single submitter
- p.Pro644= Single submitter
- p.Pro766= Single submitter
- p.Pro769= Single submitter
- p.Pro779= Single submitter
- p.Pro832= Single submitter
- p.Pro865= Single submitter
- p.Pro903His Single submitter
- p.Pro934= Single submitter
- p.Ser1022= Single submitter
- p.Ser1024= Single submitter
- p.Ser1085= Single submitter
- p.Ser1094= Single submitter
- p.Ser1128= Single submitter
- p.Ser1147= Single submitter
- p.Ser1217= Single submitter
- p.Ser1225= Single submitter
- p.Ser1228= Single submitter
- p.Ser1238= Single submitter
- p.Ser143= Single submitter
- p.Ser237= Single submitter
- p.Ser296= Single submitter
- p.Ser358= Single submitter
- p.Ser415= Single submitter
- p.Ser436= Single submitter
- p.Ser445= Single submitter
- p.Ser479= Single submitter
- p.Ser565= Single submitter
- p.Ser579= Single submitter
- p.Ser594= Single submitter
- p.Ser596= Single submitter
- p.Ser6= Single submitter
- p.Ser712= Single submitter
- p.Ser842= Single submitter
- p.Ser858= Single submitter
- p.Ser887= Single submitter
- p.Ser899= Single submitter
- p.Ser931= Single submitter
- p.Ser967= Single submitter
- p.Ser975= Single submitter
- p.Thr1028= Single submitter
- p.Thr1119= Single submitter
- p.Thr1139= Single submitter
- p.Thr1213= Single submitter
- p.Thr303= Single submitter
- p.Thr4= Single submitter
- p.Thr580= Single submitter
- p.Thr69= Single submitter
- p.Thr741= Single submitter
- p.Thr862= Single submitter
- p.Thr940= Single submitter
- p.Thr96= Single submitter
- p.Thr972= Single submitter
- p.Thr98= Single submitter
- p.Thr999= Single submitter
- p.Tyr1215= Single submitter
- p.Val174= Single submitter
- p.Val242= Single submitter
- p.Val247Asp Single submitter
- p.Val317= Single submitter
- p.Val463= Single submitter
- p.Val573= Single submitter
- p.Val574= Single submitter
- p.Val604= Single submitter
- p.Val657= Single submitter
- p.Val837= Single submitter
- p.Val886= Single submitter
- p.Val990= Single submitter
Uncertain significance 625
Showing the top 300 by review status; the full set is in the sitemap.
- c.3669-5G>A Multiple submitters retinitis pigmentosa
- c.*1666C>T Multiple submitters retinitis pigmentosa
- c.*1686C>A Multiple submitters retinitis pigmentosa
- c.*658G>C Multiple submitters retinitis pigmentosa
- p.Ala1110Thr Multiple submitters ⚠
- p.Ala1194Gly Multiple submitters ⚠
- p.Ala1194Val Multiple submitters ⚠
- p.Ala324Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala374Gly Multiple submitters ⚠
- p.Ala478Thr Multiple submitters retinitis pigmentosa ⚠
- p.Ala53Thr Multiple submitters ⚠
- p.Ala625Thr Multiple submitters ⚠
- p.Ala631Val Multiple submitters retinitis pigmentosa ⚠
- p.Ala753Thr Multiple submitters retinitis pigmentosa ⚠
- p.Ala844Pro Multiple submitters retinitis pigmentosa ⚠
- p.Arg1010Gln Multiple submitters retinitis pigmentosa 54 ⚠
- p.Arg1046Gln Multiple submitters ⚠
- p.Arg1047Gln Multiple submitters ⚠
- p.Arg1177Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg1177Trp Multiple submitters retinitis pigmentosa ⚠
- p.Arg1197Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Arg1197His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg1202Gln Multiple submitters retinitis pigmentosa ⚠
- p.Arg1250Cys Multiple submitters ⚠
- p.Arg1250His Multiple submitters ⚠
- p.Arg1268Gln Multiple submitters ⚠
- p.Arg212Trp Multiple submitters retinitis pigmentosa ⚠
- p.Arg315Lys Multiple submitters retinitis pigmentosa ⚠
- p.Arg521Gln Multiple submitters ⚠
- p.Arg528Ser Multiple submitters retinitis pigmentosa ⚠
- p.Arg531Lys Multiple submitters ⚠
- p.Arg65Ser Multiple submitters ⚠
- p.Arg745Lys Multiple submitters ⚠
- p.Arg984Gln Multiple submitters retinitis pigmentosa ⚠
- p.Arg986Gly Multiple submitters ⚠
- p.Asn67Asp Multiple submitters ⚠
- p.Asn857Thr Multiple submitters inherited retinal dystrophy ⚠
- p.Asp113Tyr Multiple submitters ⚠
- p.Asp1174_Ala1179del Multiple submitters
- p.Asp337Asn Multiple submitters ⚠
- p.Asp355Glu Multiple submitters ⚠
- p.Asp372Asn Multiple submitters ⚠
- p.Asp840Glu Multiple submitters ⚠
- p.Cys50Arg Multiple submitters ⚠
- p.Cys559Phe Multiple submitters ⚠
- p.Cys821Tyr Multiple submitters inherited retinal dystrophy ⚠
- p.Gln1176Pro Multiple submitters ⚠
- p.Gln185Glu Multiple submitters ⚠
- p.Gln272Lys Multiple submitters ⚠
- p.Gln279His Multiple submitters ⚠
- p.Gln640Glu Multiple submitters ⚠
- p.Gln932His Multiple submitters ⚠
- p.Glu1062Lys Multiple submitters ⚠
- p.Glu1106Lys Multiple submitters ⚠
- p.Glu1226Lys Multiple submitters retinitis pigmentosa 54 ⚠
- p.Glu133Gln Multiple submitters ⚠
- p.Glu228Asp Multiple submitters ⚠
- p.Glu378Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu485Lys Multiple submitters inherited retinal dystrophy ⚠
- p.Glu491Lys Multiple submitters retinitis pigmentosa ⚠
- p.Glu494del Multiple submitters
- p.Glu494Lys Multiple submitters ⚠
- p.Glu550Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu568Lys Multiple submitters ⚠
- p.Glu569del Multiple submitters
- p.Glu59Asp Multiple submitters retinitis pigmentosa ⚠
- p.Glu60Lys Multiple submitters inherited retinal dystrophy ⚠
- p.Glu695Lys Multiple submitters ⚠
- p.Glu790Ala Multiple submitters retinitis pigmentosa ⚠
- p.Glu817Lys Multiple submitters ⚠
- p.Glu828Lys Multiple submitters inherited retinal dystrophy ⚠
- p.Glu864Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu864Lys Multiple submitters ⚠
- p.Glu985Gly Multiple submitters ⚠
- p.Gly1154Ala Multiple submitters ⚠
- p.Gly1262Arg Multiple submitters ⚠
- p.Gly1270Ser Multiple submitters ⚠
- p.Gly172Val Multiple submitters ⚠
- p.Gly18Ser Multiple submitters ⚠
- p.Gly290Ser Multiple submitters ⚠
- p.Gly342Ser Multiple submitters retinitis pigmentosa ⚠
- p.Gly351Asp Multiple submitters ⚠
- p.Gly462Glu Multiple submitters ⚠
- p.Gly570Arg Multiple submitters ⚠
- p.Gly709Arg Multiple submitters ⚠
- p.Gly866Glu Multiple submitters ⚠
- p.Gly938Asp Multiple submitters inherited retinal dystrophy ⚠
- p.Gly938Ser Multiple submitters ⚠
- p.His306Leu Multiple submitters ⚠
- p.Ile41Asn Multiple submitters ⚠
- p.Ile461Thr Multiple submitters inherited retinal dystrophy ⚠
- p.Leu103Pro Multiple submitters ⚠
- p.Leu1171Pro Multiple submitters ⚠
- p.Leu328Val Multiple submitters ⚠
- p.Leu623Pro Multiple submitters ⚠
- p.Leu666Phe Multiple submitters ⚠
- p.Lys1007Asn Multiple submitters PCARE-related disorder ⚠
- p.Lys1100Gln Multiple submitters ⚠
- p.Lys1231del Multiple submitters
- p.Lys310Asn Multiple submitters inherited retinal dystrophy ⚠
- p.Lys471Glu Multiple submitters ⚠
- p.Lys733Gln Multiple submitters retinitis pigmentosa ⚠
- p.Lys770Arg Multiple submitters ⚠
- p.Met500Ile Multiple submitters retinitis pigmentosa ⚠
- p.Phe129Val Multiple submitters ⚠
- p.Pro1030Leu Multiple submitters ⚠
- p.Pro1051Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Pro1057Ser Multiple submitters ⚠
- p.Pro1059= Multiple submitters retinitis pigmentosa
- p.Pro1065Arg Multiple submitters retinitis pigmentosa ⚠
- p.Pro1074Ser Multiple submitters ⚠
- p.Pro1091Ser Multiple submitters inherited retinal dystrophy ⚠
- p.Pro1136Leu Multiple submitters ⚠
- p.Pro115Leu Multiple submitters ⚠
- p.Pro254Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro254Thr Multiple submitters ⚠
- p.Pro260Ser Multiple submitters ⚠
- p.Pro440Ala Multiple submitters ⚠
- p.Pro576del Multiple submitters
- p.Pro690Thr Multiple submitters ⚠
- p.Pro779Gln Multiple submitters ⚠
- p.Pro779Leu Multiple submitters ⚠
- p.Pro807Arg Multiple submitters ⚠
- p.Pro831Leu Multiple submitters ⚠
- p.Pro833Leu Multiple submitters ⚠
- p.Pro903Thr Multiple submitters retinitis pigmentosa ⚠
- p.Ser1015_Tyr1016insCysLeuProSerSer Multiple submitters
- p.Ser1085Leu Multiple submitters retinitis pigmentosa ⚠
- p.Ser108Thr Multiple submitters ⚠
- p.Ser1090Leu Multiple submitters retinitis pigmentosa ⚠
- p.Ser1138Pro Multiple submitters ⚠
- p.Ser1214Thr Multiple submitters ⚠
- p.Ser1225_Glu1226insArg Multiple submitters
- p.Ser1237fs Multiple submitters
- p.Ser1276Ala Multiple submitters PCARE-related disorder ⚠
- p.Ser143Phe Multiple submitters ⚠
- p.Ser437Cys Multiple submitters ⚠
- p.Ser498Asn Multiple submitters ⚠
- p.Ser517Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Ser549Cys Multiple submitters
- p.Ser905Asn Multiple submitters inherited retinal dystrophy ⚠
- p.Thr1075Ala Multiple submitters ⚠
- p.Thr1119Ile Multiple submitters retinitis pigmentosa ⚠
- p.Thr1207Asn Multiple submitters retinitis pigmentosa ⚠
- p.Thr438Arg Multiple submitters ⚠
- p.Thr509Ala Multiple submitters ⚠
- p.Thr729Ala Multiple submitters retinitis pigmentosa 54 ⚠
- p.Thr741Met Multiple submitters Inborn genetic diseases ⚠
- p.Trp380Cys Multiple submitters ⚠
- p.Tyr273Cys Multiple submitters
- p.Tyr299Asp Multiple submitters ⚠
- p.Val1038Met Multiple submitters ⚠
- p.Val181Ile Multiple submitters ⚠
- p.Val242Met Multiple submitters ⚠
- p.Val359Met Multiple submitters ⚠
- p.Val463Asp Multiple submitters ⚠
- c.3668+2T>G Single submitter
- c.*1050C>T Single submitter retinitis pigmentosa
- c.*1140T>C Single submitter retinitis pigmentosa
- c.*1157G>A Single submitter retinitis pigmentosa
- c.*1199G>C Single submitter retinitis pigmentosa
- c.*1224C>G Single submitter retinitis pigmentosa
- c.*1259C>T Single submitter retinitis pigmentosa
- c.*1278C>A Single submitter retinitis pigmentosa
- c.*1296T>G Single submitter retinitis pigmentosa
- c.*1517G>A Single submitter retinitis pigmentosa
- c.*1525C>T Single submitter retinitis pigmentosa
- c.*1703A>G Single submitter retinitis pigmentosa
- c.*1714G>A Single submitter retinitis pigmentosa
- c.*1746G>A Single submitter retinitis pigmentosa
- c.*1785C>T Single submitter retinitis pigmentosa
- c.*1798C>T Single submitter retinitis pigmentosa
- c.*1844C>G Single submitter retinitis pigmentosa
- c.*1865G>A Single submitter retinitis pigmentosa
- c.*1930C>T Single submitter retinitis pigmentosa
- c.*1933G>C Single submitter retinitis pigmentosa
- c.*1969G>A Single submitter retinitis pigmentosa
- c.*204G>T Single submitter retinitis pigmentosa
- c.*2066A>G Single submitter retinitis pigmentosa
- c.*2207C>T Single submitter retinitis pigmentosa
- c.*227T>C Single submitter retinitis pigmentosa
- c.*2383G>A Single submitter retinitis pigmentosa
- c.*2441C>A Single submitter retinitis pigmentosa
- c.*2442G>A Single submitter retinitis pigmentosa
- c.*2512G>A Single submitter retinitis pigmentosa
- c.*2546G>A Single submitter retinitis pigmentosa
- c.*2558C>T Single submitter retinitis pigmentosa
- c.*2595A>G Single submitter retinitis pigmentosa
- c.*2649C>T Single submitter retinitis pigmentosa
- c.*2652T>C Single submitter retinitis pigmentosa
- c.*2763A>G Single submitter retinitis pigmentosa
- c.*283G>A Single submitter retinitis pigmentosa
- c.*3008G>T Single submitter retinitis pigmentosa
- c.*3036C>T Single submitter retinitis pigmentosa
- c.*3037G>A Single submitter retinitis pigmentosa
- c.*3040C>T Single submitter retinitis pigmentosa
- c.*3050C>T Single submitter retinitis pigmentosa
- c.*3063A>G Single submitter retinitis pigmentosa
- c.*34C>A Single submitter retinitis pigmentosa
- c.*395T>G Single submitter retinitis pigmentosa
- c.*399C>T Single submitter retinitis pigmentosa
- c.*400G>A Single submitter retinitis pigmentosa
- c.*412C>T Single submitter retinitis pigmentosa
- c.*413G>A Single submitter retinitis pigmentosa
- c.*474T>C Single submitter retinitis pigmentosa
- c.*599G>A Single submitter retinitis pigmentosa
- c.*857C>T Single submitter retinitis pigmentosa
- c.*874G>A Single submitter retinitis pigmentosa
- c.*903A>G Single submitter retinitis pigmentosa
- c.*929G>A Single submitter retinitis pigmentosa
- c.*953G>A Single submitter retinitis pigmentosa
- c.*982C>T Single submitter retinitis pigmentosa
- c.*988C>G Single submitter retinitis pigmentosa
- c.*997G>A Single submitter retinitis pigmentosa
- p.633GQ[3] Single submitter
- p.Ala1080Val Single submitter inherited retinal dystrophy ⚠
- p.Ala1126Pro Single submitter ⚠
- p.Ala1140Thr Single submitter ⚠
- p.Ala1160Thr Single submitter ⚠
- p.Ala1179_Ala1180dup Single submitter
- p.Ala1251Val Single submitter ⚠
- p.Ala1280Val Single submitter ⚠
- p.Ala183Thr Single submitter ⚠
- p.Ala187Thr Single submitter ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala304Gly Single submitter ⚠
- p.Ala332Thr Single submitter ⚠
- p.Ala332Val Single submitter ⚠
- p.Ala417Asp Single submitter ⚠
- p.Ala53Ser Single submitter ⚠
- p.Ala53Val Single submitter ⚠
- p.Ala587Ser Single submitter ⚠
- p.Ala705Thr Single submitter
- p.Ala717Asp Single submitter ⚠
- p.Ala717Gly Single submitter ⚠
- p.Ala71Pro Single submitter ⚠
- p.Ala755Thr Single submitter ⚠
- p.Ala775Thr Single submitter ⚠
- p.Ala813Thr Single submitter ⚠
- p.Ala870Thr Single submitter ⚠
- p.Ala898Thr Single submitter ⚠
- p.Ala947= Single submitter inherited retinal dystrophy
- p.Ala947Thr Single submitter ⚠
- p.Ala957Ser Single submitter ⚠
- p.Ala959Pro Single submitter ⚠
- p.Ala959Val Single submitter ⚠
- p.Ala994Ser Single submitter ⚠
- p.Ala994Thr Single submitter inherited retinal dystrophy ⚠
- p.Arg1008Lys Single submitter ⚠
- p.Arg1009His Single submitter ⚠
- p.Arg1010Trp Single submitter ⚠
- p.Arg1172Thr Single submitter ⚠
- p.Arg1192del Single submitter
- p.Arg1197Ser Single submitter ⚠
- p.Arg248Lys Single submitter ⚠
- p.Arg248Thr Single submitter ⚠
- p.Arg29Gln Single submitter ⚠
- p.Arg521Leu Single submitter ⚠
- p.Arg521Trp Single submitter ⚠
- p.Arg528Pro Single submitter ⚠
- p.Arg530Gly Single submitter ⚠
- p.Arg586Lys Single submitter inherited retinal dystrophy ⚠
- p.Arg617Lys Single submitter ⚠
- p.Arg665Ser Single submitter ⚠
- p.Arg728Thr Single submitter ⚠
- p.Arg912Gly Single submitter ⚠
- p.Arg952Lys Single submitter ⚠
- p.Arg971Gly Single submitter ⚠
- p.Arg992Gly Single submitter ⚠
- p.Arg998Met Single submitter inherited retinal dystrophy ⚠
- p.Asn1058Asp Single submitter ⚠
- p.Asn1165_Ser1166insAsn Single submitter
- p.Asn282_Leu288del Single submitter
- p.Asn282Lys Single submitter ⚠
- p.Asn282Ser Single submitter ⚠
- p.Asn316Asp Single submitter ⚠
- p.Asn316Thr Single submitter ⚠
- p.Asn661Thr Single submitter ⚠
- p.Asn826Lys Single submitter ⚠
- p.Asp1006Glu Single submitter ⚠
- p.Asp1104Glu Single submitter ⚠
- p.Asp1107Asn Single submitter ⚠
- p.Asp1107Glu Single submitter ⚠
- p.Asp1209His Single submitter ⚠
- p.Asp1232Glu Single submitter inherited retinal dystrophy ⚠
- p.Asp141Gly Single submitter ⚠
- p.Asp175Gly Single submitter
- p.Asp363Gly Single submitter ⚠
- p.Asp372Val Single submitter ⚠
- p.Asp411Glu Single submitter ⚠
- p.Asp457Val Single submitter ⚠
- p.Asp483Glu Single submitter ⚠
- p.Asp520Asn Single submitter ⚠
- p.Asp606Asn Single submitter ⚠
- p.Asp618Val Single submitter ⚠
- p.Asp681Tyr Single submitter ⚠
- p.Asp752Glu Single submitter ⚠
- p.Asp80Gly Single submitter ⚠
- p.Asp80Tyr Single submitter ⚠
- p.Asp840Val Single submitter ⚠