ARSG — 443 ClinVar variants
All ClinVar germline ARSG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 190 flagged for review →
30 Pathogenic · 1 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 7 Conflicting · 36 Benign · 4 Benign/Likely benign · 153 Likely benign · 199 Uncertain significance
Full ARSG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 190
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 99
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARSG p.Ala262Val Uncertain significance Multiple submitters
- ARSG p.Ala437Val Uncertain significance Multiple submitters
- ARSG p.Ala525Val Uncertain significance Multiple submitters
- ARSG p.Arg521Cys Uncertain significance Multiple submitters
- ARSG p.Asp496Asn Uncertain significance Multiple submitters
- ARSG p.Gln517Pro Uncertain significance Multiple submitters
- ARSG p.Gly265Ser Uncertain significance Multiple submitters
- ARSG p.Gly471Asp Uncertain significance Multiple submitters
- ARSG p.Met250Val Uncertain significance Multiple submitters
- ARSG p.Met46Ile Uncertain significance Multiple submitters
- ARSG p.Pro213Gln Uncertain significance Multiple submitters
- ARSG p.Val365Met Uncertain significance Multiple submitters
- ARSG p.Ala180Val Uncertain significance Single submitter
- ARSG p.Ala200Thr Uncertain significance Single submitter
- ARSG p.Ala224Ser Uncertain significance Single submitter
- ARSG p.Ala332Gly Uncertain significance Single submitter
- ARSG p.Ala347Asp Uncertain significance Single submitter
- ARSG p.Ala439Thr Uncertain significance Single submitter
- ARSG p.Ala525Pro Uncertain significance Single submitter
- ARSG p.Ala62Thr Uncertain significance Single submitter
- ARSG p.Arg104His Uncertain significance Single submitter
- ARSG p.Arg326Cys Uncertain significance Single submitter
- ARSG p.Arg326Leu Uncertain significance Single submitter
- ARSG p.Arg342Leu Uncertain significance Single submitter
-
ARSG p.Arg342Trp
Uncertain significance
Single submitter
Usher syndrome, type 4
- ARSG p.Arg521His Uncertain significance Single submitter
- ARSG p.Arg73Gly Uncertain significance Single submitter
- ARSG p.Arg88Gln Uncertain significance Single submitter
- ARSG p.Arg99Cys Uncertain significance Single submitter
- ARSG p.Asn190Lys Uncertain significance Single submitter
- ARSG p.Asn190Thr Uncertain significance Single submitter
- ARSG p.Asn303His Uncertain significance Single submitter
- ARSG p.Asn410Ser Uncertain significance Single submitter
- ARSG p.Asn497Thr Uncertain significance Single submitter
- ARSG p.Asp164Asn Uncertain significance Single submitter
- ARSG p.Asp169Asn Uncertain significance Single submitter
- ARSG p.Asp288Asn Uncertain significance Single submitter
- ARSG p.Cys513Tyr Uncertain significance Single submitter
- ARSG p.Cys520Arg Uncertain significance Single submitter
- ARSG p.Cys522Arg Uncertain significance Single submitter
- ARSG p.Gln258Pro Uncertain significance Single submitter
- ARSG p.Gln377Glu Uncertain significance Single submitter
- ARSG p.Glu447Gly Uncertain significance Single submitter
- ARSG p.Glu481Lys Uncertain significance Single submitter
- ARSG p.Gly133Arg Uncertain significance Single submitter
- ARSG p.Gly136Cys Uncertain significance Single submitter
- ARSG p.Gly152Ala Uncertain significance Single submitter
- ARSG p.Gly166Cys Uncertain significance Single submitter
- ARSG p.Gly265Asp Uncertain significance Single submitter
- ARSG p.Gly270Asp Uncertain significance Single submitter
- ARSG p.Gly270Ser Uncertain significance Single submitter
- ARSG p.Gly328Glu Uncertain significance Single submitter
- ARSG p.Gly33Glu Uncertain significance Single submitter
- ARSG p.Gly383Glu Uncertain significance Single submitter
- ARSG p.Gly412Arg Uncertain significance Single submitter
- ARSG p.Gly472Asp Uncertain significance Single submitter
- ARSG p.Gly47Glu Uncertain significance Single submitter
- ARSG p.Gly49Asp Uncertain significance Single submitter
- ARSG p.Gly94Asp Uncertain significance Single submitter
- ARSG p.Gly94Ser Uncertain significance Single submitter
- ARSG p.Gly97Asp Uncertain significance Single submitter
- ARSG p.His139Asn Uncertain significance Single submitter
- ARSG p.His147Asn Uncertain significance Single submitter
- ARSG p.His163Arg Uncertain significance Single submitter
- ARSG p.His78Arg Uncertain significance Single submitter
- ARSG p.Ile368Thr Uncertain significance Single submitter
- ARSG p.Ile433Leu Uncertain significance Single submitter
- ARSG p.Leu96Phe Uncertain significance Single submitter
- ARSG p.Phe157Tyr Uncertain significance Single submitter
- ARSG p.Phe296Leu Uncertain significance Single submitter
- ARSG p.Pro177Ser Uncertain significance Single submitter
- ARSG p.Pro213Leu Uncertain significance Single submitter
- ARSG p.Pro253Leu Uncertain significance Single submitter
- ARSG p.Pro305Leu Uncertain significance Single submitter
- ARSG p.Pro331Thr Uncertain significance Single submitter
- ARSG p.Pro401Ser Uncertain significance Single submitter
- ARSG p.Pro446Leu Uncertain significance Single submitter
- ARSG p.Ser330Cys Uncertain significance Single submitter
- ARSG p.Ser364Asn Uncertain significance Single submitter
- ARSG p.Thr103Pro Uncertain significance Single submitter
- ARSG p.Thr168Ile Uncertain significance Single submitter
- ARSG p.Thr197Ile Uncertain significance Single submitter
- ARSG p.Thr197Ser Uncertain significance Single submitter
- ARSG p.Thr228Ile Uncertain significance Single submitter
- ARSG p.Thr444Ala Uncertain significance Single submitter
- ARSG p.Thr462Ile Uncertain significance Single submitter
- ARSG p.Thr93Ile Uncertain significance Single submitter
- ARSG p.Trp3Cys Uncertain significance Single submitter
- ARSG p.Trp55Arg Uncertain significance Single submitter
- ARSG p.Tyr196Ser Uncertain significance Single submitter
- ARSG p.Tyr20Phe Uncertain significance Single submitter
- ARSG p.Val111Met Uncertain significance Single submitter
- ARSG p.Val131Ile Uncertain significance Single submitter
- ARSG p.Val13Leu Uncertain significance Single submitter
- ARSG p.Val23Ala Uncertain significance Single submitter
- ARSG p.Val353Leu Uncertain significance Single submitter
- ARSG p.Val489Ile Uncertain significance Single submitter
- ARSG p.Val8Ala Uncertain significance Single submitter
-
ARSG p.Leu297Val
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 87
The independent predictors disagree with each other — read with care.
- ARSG p.Ala374Pro Uncertain significance Multiple submitters
- ARSG p.Ala473Val Uncertain significance Multiple submitters
- ARSG p.Arg151His Uncertain significance Multiple submitters
- ARSG p.Arg233Cys Uncertain significance Multiple submitters
- ARSG p.Arg342Gln Uncertain significance Multiple submitters
- ARSG p.Arg385Cys Uncertain significance Multiple submitters
- ARSG p.Arg398Gln Uncertain significance Multiple submitters
- ARSG p.Arg398Trp Benign Multiple submitters
- ARSG p.Arg427Cys Uncertain significance Multiple submitters
- ARSG p.Asn410Asp Uncertain significance Multiple submitters
- ARSG p.Asp461Asn Uncertain significance Multiple submitters
- ARSG p.Gln334Lys Uncertain significance Multiple submitters
- ARSG p.Gly144Ser Uncertain significance Multiple submitters
- ARSG p.Ile493Thr Likely benign Multiple submitters
- ARSG p.Leu312Val Uncertain significance Multiple submitters
- ARSG p.Leu425Arg Uncertain significance Multiple submitters
- ARSG p.Leu96Val Uncertain significance Multiple submitters
- ARSG p.Met276Thr Uncertain significance Multiple submitters
- ARSG p.Pro115Leu Uncertain significance Multiple submitters
- ARSG p.Pro176Leu Uncertain significance Multiple submitters
- ARSG p.Pro263Thr Uncertain significance Multiple submitters
- ARSG p.Ser218Ile Uncertain significance Multiple submitters
-
ARSG p.Thr335Met
Uncertain significance
Multiple submitters
ARSG-related disorder
- ARSG p.Ala128Val Uncertain significance Single submitter
- ARSG p.Ala313Val Uncertain significance Single submitter
- ARSG p.Ala439Val Uncertain significance Single submitter
- ARSG p.Ala477Pro Uncertain significance Single submitter
- ARSG p.Ala501Thr Conflicting Single submitter
- ARSG p.Ala56Val Uncertain significance Single submitter
- ARSG p.Arg151Cys Uncertain significance Single submitter
- ARSG p.Arg233His Conflicting Single submitter
- ARSG p.Arg233Leu Uncertain significance Single submitter
- ARSG p.Arg264Trp Uncertain significance Single submitter
- ARSG p.Arg384Gln Uncertain significance Single submitter
- ARSG p.Arg384Trp Uncertain significance Single submitter
- ARSG p.Arg427His Uncertain significance Single submitter
- ARSG p.Arg483Ile Uncertain significance Single submitter
- ARSG p.Arg95Gln Uncertain significance Single submitter
- ARSG p.Arg99His Uncertain significance Single submitter
- ARSG p.Asn100Asp Uncertain significance Single submitter
- ARSG p.Asn149Tyr Uncertain significance Single submitter
- ARSG p.Asp169Ala Uncertain significance Single submitter
- ARSG p.Asp285Gly Uncertain significance Single submitter
- ARSG p.Asp506Asn Uncertain significance Single submitter
- ARSG p.Asp506Glu Uncertain significance Single submitter
- ARSG p.Asp65Glu Uncertain significance Single submitter
- ARSG p.Cys178Arg Uncertain significance Single submitter
- ARSG p.Cys195Ser Uncertain significance Single submitter
- ARSG p.Gln229His Uncertain significance Single submitter
- ARSG p.Gln476His Uncertain significance Single submitter
- ARSG p.Glu311Lys Uncertain significance Single submitter
- ARSG p.Glu393Lys Uncertain significance Single submitter
- ARSG p.Glu469Gly Uncertain significance Single submitter
- ARSG p.Gly112Arg Uncertain significance Single submitter
- ARSG p.Gly238Arg Uncertain significance Single submitter
- ARSG p.Gly265Val Uncertain significance Single submitter
- ARSG p.Gly2Cys Uncertain significance Single submitter
- ARSG p.Gly329Glu Uncertain significance Single submitter
- ARSG p.Gly351Asp Uncertain significance Single submitter
- ARSG p.Gly436Glu Uncertain significance Single submitter
- ARSG p.Ile209Val Uncertain significance Single submitter
- ARSG p.Leu242Val Uncertain significance Single submitter
- ARSG p.Leu448Pro Uncertain significance Single submitter
- ARSG p.Lys484Asn Uncertain significance Single submitter
- ARSG p.Lys59Met Uncertain significance Single submitter
- ARSG p.Met46Thr Uncertain significance Single submitter
- ARSG p.Phe150Leu Uncertain significance Single submitter
- ARSG p.Pro176Ser Uncertain significance Single submitter
- ARSG p.Pro354Thr Uncertain significance Single submitter
- ARSG p.Pro480Ser Uncertain significance Single submitter
- ARSG p.Pro507Thr Uncertain significance Single submitter
- ARSG p.Ser16Pro Uncertain significance Single submitter
- ARSG p.Ser217Asn Uncertain significance Single submitter
- ARSG p.Ser69Leu Uncertain significance Single submitter
- ARSG p.Trp349Leu Uncertain significance Single submitter
- ARSG p.Tyr244Cys Uncertain significance Single submitter
- ARSG p.Tyr428His Uncertain significance Single submitter
- ARSG p.Tyr432Ser Uncertain significance Single submitter
- ARSG p.Val124Met Uncertain significance Single submitter
- ARSG p.Val13Met Uncertain significance Single submitter
- ARSG p.Val210Glu Uncertain significance Single submitter
- ARSG p.Val252Met Uncertain significance Single submitter
- ARSG p.Val287Ala Uncertain significance Single submitter
- ARSG p.Val391Ile Uncertain significance Single submitter
- ARSG p.Val391Leu Uncertain significance Single submitter
- ARSG p.Val391Phe Uncertain significance Single submitter
-
ARSG p.Arg424Cys
Pathogenic
No assertion criteria
Usher syndrome, type 4
All ARSG variants
Pathogenic 30
- c.566+3_566+8del Multiple submitters Usher syndrome, type 4
- c.1303+1G>A Single submitter
- c.454+1G>A Single submitter
- c.454+1G>T Single submitter
- c.983-2A>G Single submitter
- p.Arg385fs Single submitter
- p.Arg95Trp Single submitter
- p.Asp277fs Single submitter
- p.Gln229fs Single submitter
- p.Gln308Ter Single submitter
- p.Gln324Ter Single submitter
- p.Gln34Ter Single submitter
- p.Gln382fs Single submitter
- p.Gln421Ter Single submitter
- p.Glu426Ter Single submitter
- p.Gly113Asp Single submitter Usher syndrome, type 4
- p.Ser235fs Single submitter
- p.Ser443fs Single submitter Usher syndrome, type 4
- p.Thr31fs Single submitter
- p.Thr336fs Single submitter
- p.Trp306fs Single submitter
- p.Trp323fs Single submitter
- p.Tyr130Ter Single submitter
- p.Val423fs Single submitter
- c.1212+1G>A No assertion criteria Usher syndrome, type 4
- c.705-3940_982+2952del No assertion criteria Usher syndrome, type 4
- p.Arg424Cys No assertion criteria Usher syndrome, type 4 ⚠
- p.Asp45Tyr No assertion criteria Usher syndrome
- p.Leu92Pro No assertion criteria Usher syndrome, type 4
- p.Tyr196Ter No assertion criteria Usher syndrome, type 4
Pathogenic/Likely pathogenic 1
- c.983-2_983-1del Multiple submitters Usher syndrome, type 4
Likely pathogenic 13
- c.1091+1G>A Single submitter
- c.218+1G>A Single submitter
- c.218+2T>C Single submitter
- c.407-2A>C Single submitter Usher syndrome, type 4
- c.566+1G>A Single submitter
- c.704+1G>A Single submitter
- c.901+2T>C Single submitter
- c.982+1G>C Single submitter Usher syndrome, type 4
- c.982+1G>T Single submitter
- c.982+2T>G Single submitter
- p.Gln505fs Single submitter
- p.Ser85Pro Single submitter Usher syndrome, type 4
- p.Trp274Ter Single submitter Usher syndrome, type 4
Conflicting classifications of pathogenicity 7
- p.Ala501Thr Single submitter ⚠
- p.Arg233His Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Asp44Asn Single submitter Usher syndrome, type 4 ⚠
- p.Gln400Arg Single submitter ⚠
- p.Lys451Glu Single submitter ⚠
- p.Ser364= Single submitter
Benign 36
- c.1092-236C>T Multiple submitters
- c.218+64A>T Multiple submitters
- c.219-173A>G Multiple submitters
- c.407-84A>G Multiple submitters
- c.455-16G>A Multiple submitters
- c.982+74C>T Multiple submitters
- c.983-212G>A Multiple submitters
- c.*32C>T Multiple submitters
- p.Ala11Val Multiple submitters
- p.Ala262= Multiple submitters
- p.Arg326Gly Multiple submitters
- p.Arg342= Multiple submitters
- p.Arg385His Multiple submitters
- p.Arg398Trp Multiple submitters ⚠
- p.Asn495= Multiple submitters
- p.Gly301= Multiple submitters
- p.Leu201= Multiple submitters
- p.Pro255= Multiple submitters Usher syndrome, type 4
- p.Pro370= Multiple submitters
- p.Thr236Ser Multiple submitters Usher syndrome, type 4
- p.Thr444Met Multiple submitters
- p.Trp274Arg Multiple submitters Usher syndrome, type 4
- p.Val199Met Multiple submitters
- c.1091+72A>G Single submitter
- c.1212+229T>C Single submitter
- c.1303+12dup Single submitter
- c.1303+149A>G Single submitter
- c.1303+181T>G Single submitter
- c.1303+35G>T Single submitter
- c.567-197A>G Single submitter
- c.567-228C>G Single submitter
- c.705-112G>A Single submitter
- c.983-12del Single submitter
- p.Pro21= Single submitter
- p.Ser411= Single submitter
- p.Tyr204= Single submitter
Benign/Likely benign 4
- c.1092-5C>T Multiple submitters Usher syndrome, type 4
- p.Gly29= Multiple submitters
- p.Val252= Multiple submitters
- p.Val357= Multiple submitters
Likely benign 153
- c.704+9T>C Multiple submitters
- p.Asp502= Multiple submitters
- p.Ile493Thr Multiple submitters ⚠
- p.Thr132= Multiple submitters
- p.Thr371= Multiple submitters
- c.1091+7G>A Single submitter
- c.1092-16C>A Single submitter
- c.1092-19dup Single submitter
- c.1092-4G>A Single submitter
- c.1092-4G>C Single submitter
- c.1092-4G>T Single submitter
- c.1212+11G>A Single submitter
- c.1212+16A>G Single submitter
- c.1212+16A>T Single submitter
- c.1213-10C>T Single submitter
- c.1213-16T>C Single submitter
- c.1303+12G>C Single submitter
- c.1303+15A>G Single submitter
- c.1303+20G>A Single submitter
- c.1304-6C>T Single submitter
- c.1304-8CT[2] Single submitter
- c.218+14T>C Single submitter
- c.219-17C>T Single submitter
- c.219-8C>G Single submitter
- c.406+12C>A Single submitter
- c.406+15C>T Single submitter
- c.406+16G>A Single submitter
- c.406+9G>A Single submitter
- c.407-13T>C Single submitter
- c.407-15T>C Single submitter
- c.407-16_407-15del Single submitter
- c.407-16T>A Single submitter
- c.454+17G>A Single submitter
- c.454+9T>G Single submitter
- c.455-17G>A Single submitter
- c.455-18C>T Single submitter
- c.566+10T>C Single submitter
- c.567-14T>C Single submitter
- c.567-17C>T Single submitter
- c.704+11T>C Single submitter
- c.704+12C>G Single submitter
- c.705-10C>T Single submitter
- c.705-12C>G Single submitter
- c.705-16G>C Single submitter
- c.705-17T>C Single submitter
- c.705-19C>G Single submitter
- c.901+16C>T Single submitter
- c.901+18A>G Single submitter
- c.902-13T>C Single submitter
- c.902-6T>G Single submitter
- c.982+17G>A Single submitter
- c.982+20T>C Single submitter
- c.982+7G>T Single submitter
- c.983-4A>G Single submitter
- c.983-6T>C Single submitter
- p.Ala11= Single submitter
- p.Ala180= Single submitter
- p.Ala313= Single submitter
- p.Ala361= Single submitter
- p.Ala374= Single submitter
- p.Ala414= Single submitter
- p.Ala43= Single submitter
- p.Ala439= Single submitter
- p.Ala465= Single submitter
- p.Ala473= Single submitter
- p.Ala494= Single submitter
- p.Ala519= Single submitter
- p.Ala524= Single submitter
- p.Ala525= Single submitter
- p.Ala62= Single submitter
- p.Ala79= Single submitter
- p.Ala89= Single submitter
- p.Arg384= Single submitter
- p.Arg424= Single submitter
- p.Asn100= Single submitter
- p.Asn117= Single submitter
- p.Asn149= Single submitter
- p.Asn190= Single submitter
- p.Asn294= Single submitter
- p.Asn497= Single submitter
- p.Asn63= Single submitter
- p.Asp164= Single submitter
- p.Asp169= Single submitter
- p.Asp198= Single submitter
- p.Asp390= Single submitter
- p.Asp45= Single submitter
- p.Asp460= Single submitter
- p.Asp488= Single submitter
- p.Asp60= Single submitter
- p.Cys310= Single submitter
- p.Gln192= Single submitter
- p.Glu275= Single submitter
- p.Glu293= Single submitter
- p.Gly113= Single submitter
- p.Gly136= Single submitter
- p.Gly144= Single submitter
- p.Gly270= Single submitter
- p.Gly328= Single submitter
- p.Gly397= Single submitter
- p.Gly435Ser Single submitter
- p.Gly472Ser Single submitter
- p.His142= Single submitter
- p.His143= Single submitter
- p.His147= Single submitter
- p.His251= Single submitter
- p.Ile159= Single submitter
- p.Ile209= Single submitter
- p.Ile433= Single submitter
- p.Leu279Val Single submitter
- p.Leu346= Single submitter
- p.Leu375= Single submitter
- p.Leu420= Single submitter
- p.Leu454= Single submitter
- p.Leu479= Single submitter
- p.Leu98= Single submitter
- p.Lys7= Single submitter
- p.Phe150= Single submitter
- p.Phe241= Single submitter
- p.Phe319= Single submitter
- p.Phe5= Single submitter
- p.Phe77= Single submitter
- p.Pro115= Single submitter
- p.Pro213= Single submitter
- p.Pro253= Single submitter
- p.Pro305= Single submitter
- p.Pro318= Single submitter
- p.Pro344= Single submitter
- p.Pro480= Single submitter
- p.Ser16= Single submitter
- p.Ser218= Single submitter
- p.Ser235= Single submitter
- p.Ser237= Single submitter
- p.Ser315= Single submitter
- p.Ser392= Single submitter
- p.Ser500= Single submitter
- p.Ser69= Single submitter
- p.Thr120= Single submitter
- p.Thr236= Single submitter
- p.Thr320= Single submitter
- p.Thr335= Single submitter
- p.Thr444= Single submitter
- p.Thr462= Single submitter
- p.Thr504= Single submitter
- p.Thr510= Single submitter
- p.Thr93= Single submitter
- p.Tyr130= Single submitter
- p.Tyr146= Single submitter
- p.Tyr156= Single submitter
- p.Tyr348= Single submitter
- p.Val256Met Single submitter
- p.Val389= Single submitter
- p.Val489= Single submitter
- c.*10T>C No assertion criteria ARSG-related disorder
Uncertain significance 199
- p.Ala262Val Multiple submitters ⚠
- p.Ala374Pro Multiple submitters ⚠
- p.Ala437Val Multiple submitters ⚠
- p.Ala473Val Multiple submitters ⚠
- p.Ala525Val Multiple submitters ⚠
- p.Arg151His Multiple submitters ⚠
- p.Arg233Cys Multiple submitters ⚠
- p.Arg342Gln Multiple submitters ⚠
- p.Arg385Cys Multiple submitters ⚠
- p.Arg398Gln Multiple submitters ⚠
- p.Arg427Cys Multiple submitters ⚠
- p.Arg521Cys Multiple submitters ⚠
- p.Asn410Asp Multiple submitters ⚠
- p.Asp461Asn Multiple submitters ⚠
- p.Asp496Asn Multiple submitters ⚠
- p.Gln334Lys Multiple submitters ⚠
- p.Gln517Pro Multiple submitters ⚠
- p.Gly144Ser Multiple submitters ⚠
- p.Gly265Ser Multiple submitters ⚠
- p.Gly471Asp Multiple submitters ⚠
- p.Leu312Val Multiple submitters ⚠
- p.Leu425Arg Multiple submitters ⚠
- p.Leu96Val Multiple submitters ⚠
- p.Met250Val Multiple submitters ⚠
- p.Met276Thr Multiple submitters ⚠
- p.Met46Ile Multiple submitters ⚠
- p.Pro115Leu Multiple submitters ⚠
- p.Pro176Leu Multiple submitters ⚠
- p.Pro213Gln Multiple submitters ⚠
- p.Pro263Thr Multiple submitters ⚠
- p.Ser218Ile Multiple submitters ⚠
- p.Thr335Met Multiple submitters ARSG-related disorder ⚠
- p.Val365Met Multiple submitters ⚠
- c.1303+5G>T Single submitter
- c.704+3G>T Single submitter
- c.901+6G>A Single submitter
- c.982+5G>A Single submitter
- c.983-19_983-18delinsTT Single submitter
- c.983-8T>G Single submitter
- p.Ala128Val Single submitter ⚠
- p.Ala180Val Single submitter ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala224Ser Single submitter ⚠
- p.Ala313Val Single submitter ⚠
- p.Ala332Gly Single submitter ⚠
- p.Ala347Asp Single submitter ⚠
- p.Ala439Thr Single submitter ⚠
- p.Ala439Val Single submitter ⚠
- p.Ala477Pro Single submitter ⚠
- p.Ala525Pro Single submitter ⚠
- p.Ala56Val Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Arg104His Single submitter ⚠
- p.Arg151Cys Single submitter ⚠
- p.Arg233Leu Single submitter ⚠
- p.Arg264Trp Single submitter ⚠
- p.Arg326Cys Single submitter ⚠
- p.Arg326Leu Single submitter ⚠
- p.Arg342Leu Single submitter ⚠
- p.Arg342Trp Single submitter Usher syndrome, type 4 ⚠
- p.Arg384Gln Single submitter ⚠
- p.Arg384Trp Single submitter ⚠
- p.Arg427His Single submitter ⚠
- p.Arg483Ile Single submitter ⚠
- p.Arg521His Single submitter ⚠
- p.Arg73Gly Single submitter ⚠
- p.Arg88Gln Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Arg99Cys Single submitter ⚠
- p.Arg99His Single submitter ⚠
- p.Asn100Asp Single submitter ⚠
- p.Asn149Tyr Single submitter ⚠
- p.Asn190Lys Single submitter ⚠
- p.Asn190Thr Single submitter ⚠
- p.Asn303His Single submitter ⚠
- p.Asn410Ser Single submitter ⚠
- p.Asn457fs Single submitter
- p.Asn497Thr Single submitter ⚠
- p.Asp164Asn Single submitter ⚠
- p.Asp169Ala Single submitter ⚠
- p.Asp169Asn Single submitter ⚠
- p.Asp185del Single submitter
- p.Asp285Gly Single submitter ⚠
- p.Asp288Asn Single submitter ⚠
- p.Asp461_Thr462del Single submitter
- p.Asp506Asn Single submitter ⚠
- p.Asp506Glu Single submitter ⚠
- p.Asp65Glu Single submitter ⚠
- p.Cys178Arg Single submitter ⚠
- p.Cys195Ser Single submitter ⚠
- p.Cys513Tyr Single submitter ⚠
- p.Cys520Arg Single submitter ⚠
- p.Cys520Ter Single submitter
- p.Cys522Arg Single submitter ⚠
- p.Gln229His Single submitter ⚠
- p.Gln258Pro Single submitter ⚠
- p.Gln377Glu Single submitter ⚠
- p.Gln476His Single submitter ⚠
- p.Glu311Lys Single submitter ⚠
- p.Glu393Lys Single submitter ⚠
- p.Glu447Gly Single submitter ⚠
- p.Glu469Gly Single submitter ⚠
- p.Glu481Lys Single submitter ⚠
- p.Gly112Arg Single submitter ⚠
- p.Gly133Arg Single submitter ⚠
- p.Gly136Cys Single submitter ⚠
- p.Gly152Ala Single submitter ⚠
- p.Gly166Cys Single submitter ⚠
- p.Gly238Arg Single submitter ⚠
- p.Gly265Asp Single submitter ⚠
- p.Gly265Val Single submitter ⚠
- p.Gly270Asp Single submitter ⚠
- p.Gly270Ser Single submitter ⚠
- p.Gly2Cys Single submitter ⚠
- p.Gly328Glu Single submitter ⚠
- p.Gly329Glu Single submitter ⚠
- p.Gly33Glu Single submitter ⚠
- p.Gly351Asp Single submitter ⚠
- p.Gly383Glu Single submitter ⚠
- p.Gly412Arg Single submitter ⚠
- p.Gly436Glu Single submitter ⚠
- p.Gly472Asp Single submitter ⚠
- p.Gly472fs Single submitter
- p.Gly47Glu Single submitter ⚠
- p.Gly49Asp Single submitter ⚠
- p.Gly94Asp Single submitter ⚠
- p.Gly94Ser Single submitter ⚠
- p.Gly97Asp Single submitter ⚠
- p.His139Asn Single submitter ⚠
- p.His147Asn Single submitter ⚠
- p.His163Arg Single submitter ⚠
- p.His78Arg Single submitter ⚠
- p.Ile209Val Single submitter ⚠
- p.Ile368Thr Single submitter ⚠
- p.Ile433Leu Single submitter ⚠
- p.Ile518fs Single submitter
- p.Leu242Val Single submitter ⚠
- p.Leu448Pro Single submitter ⚠
- p.Leu96Phe Single submitter ⚠
- p.Lys222fs Single submitter Usher syndrome, type 4
- p.Lys451fs Single submitter
- p.Lys484Asn Single submitter ⚠
- p.Lys59Met Single submitter ⚠
- p.Met46Thr Single submitter ⚠
- p.Phe150Leu Single submitter ⚠
- p.Phe157Tyr Single submitter ⚠
- p.Phe296Leu Single submitter ⚠
- p.Pro176Ser Single submitter ⚠
- p.Pro177Ser Single submitter ⚠
- p.Pro213Leu Single submitter ⚠
- p.Pro240_Leu242del Single submitter
- p.Pro253Leu Single submitter ⚠
- p.Pro305Leu Single submitter ⚠
- p.Pro331Thr Single submitter ⚠
- p.Pro354Thr Single submitter ⚠
- p.Pro401Ser Single submitter ⚠
- p.Pro446Leu Single submitter ⚠
- p.Pro480Ser Single submitter ⚠
- p.Pro507Thr Single submitter ⚠
- p.Ser16Pro Single submitter ⚠
- p.Ser217Asn Single submitter ⚠
- p.Ser330Cys Single submitter ⚠
- p.Ser364Asn Single submitter ⚠
- p.Ser69Leu Single submitter ⚠
- p.Thr103Pro Single submitter ⚠
- p.Thr168Ile Single submitter ⚠
- p.Thr197Ile Single submitter ⚠
- p.Thr197Ser Single submitter ⚠
- p.Thr228Ile Single submitter ⚠
- p.Thr444Ala Single submitter ⚠
- p.Thr462Ile Single submitter ⚠
- p.Thr93Ile Single submitter ⚠
- p.Trp274Gln Single submitter
- p.Trp349Leu Single submitter ⚠
- p.Trp3Cys Single submitter ⚠
- p.Trp55Arg Single submitter ⚠
- p.Tyr196Ser Single submitter ⚠
- p.Tyr20Phe Single submitter ⚠
- p.Tyr244Cys Single submitter ⚠
- p.Tyr428His Single submitter ⚠
- p.Tyr432Ser Single submitter ⚠
- p.Tyr516fs Single submitter
- p.Val111Met Single submitter ⚠
- p.Val124Met Single submitter ⚠
- p.Val131Ile Single submitter ⚠
- p.Val13Leu Single submitter ⚠
- p.Val13Met Single submitter ⚠
- p.Val210Glu Single submitter ⚠
- p.Val23Ala Single submitter ⚠
- p.Val252Met Single submitter ⚠
- p.Val287Ala Single submitter ⚠
- p.Val353Leu Single submitter ⚠
- p.Val391Ile Single submitter ⚠
- p.Val391Leu Single submitter ⚠
- p.Val391Phe Single submitter ⚠
- p.Val489Ile Single submitter ⚠
- p.Val8Ala Single submitter ⚠
- c.901+5A>G No assertion criteria inherited retinal dystrophy
- p.Leu297Val No assertion criteria inherited retinal dystrophy ⚠