ADGRA3 — 1098 ClinVar variants
All ClinVar germline ADGRA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 666 flagged for review →
16 Conflicting · 34 Benign · 3 Benign/Likely benign · 319 Likely benign · 726 Uncertain significance
Full ADGRA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 666
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ADGRA3 p.Ala1094Val
Conflicting
Single submitter
inherited retinal dystrophy
-
ADGRA3 p.Asn1078Ser
Conflicting
Single submitter
inherited retinal dystrophy
- ADGRA3 p.Asn1276His Conflicting Single submitter
-
ADGRA3 p.Asp287Asn
Conflicting
Single submitter
inherited retinal dystrophy
- ADGRA3 p.Lys205Arg Conflicting Single submitter
-
ADGRA3 p.Thr569Ile
Conflicting
Single submitter
inherited retinal dystrophy
Predictors lean, ClinVar uncertain 422
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 422
- ADGRA3 p.Ala1008Val Uncertain significance Multiple submitters
- ADGRA3 p.Ala1120Val Uncertain significance Multiple submitters
- ADGRA3 p.Ala1127Ser Uncertain significance Multiple submitters
- ADGRA3 p.Ala177Val Uncertain significance Multiple submitters
-
ADGRA3 p.Ala316Pro
Uncertain significance
Multiple submitters
ADGRA3-related disorder
- ADGRA3 p.Ala37Gly Uncertain significance Multiple submitters
- ADGRA3 p.Ala407Thr Uncertain significance Multiple submitters
- ADGRA3 p.Ala437Val Uncertain significance Multiple submitters
- ADGRA3 p.Ala527Asp Uncertain significance Multiple submitters
- ADGRA3 p.Ala858Val Uncertain significance Multiple submitters
-
ADGRA3 p.Arg1163Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Arg1170His Uncertain significance Multiple submitters
- ADGRA3 p.Arg1210Gln Uncertain significance Multiple submitters
- ADGRA3 p.Arg1222Gly Uncertain significance Multiple submitters
- ADGRA3 p.Arg1267Lys Uncertain significance Multiple submitters
- ADGRA3 p.Arg1311Lys Uncertain significance Multiple submitters
- ADGRA3 p.Arg150Gln Uncertain significance Multiple submitters
-
ADGRA3 p.Arg157Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Arg210Gln Uncertain significance Multiple submitters
- ADGRA3 p.Arg251Cys Uncertain significance Multiple submitters
- ADGRA3 p.Arg378Gln Uncertain significance Multiple submitters
- ADGRA3 p.Arg472Thr Uncertain significance Multiple submitters
- ADGRA3 p.Arg50Gly Uncertain significance Multiple submitters
- ADGRA3 p.Arg520His Uncertain significance Multiple submitters
- ADGRA3 p.Arg525Gln Uncertain significance Multiple submitters
- ADGRA3 p.Arg568Pro Uncertain significance Multiple submitters
- ADGRA3 p.Arg577Gln Uncertain significance Multiple submitters
- ADGRA3 p.Arg642Ser Uncertain significance Multiple submitters
- ADGRA3 p.Arg663His Uncertain significance Multiple submitters
- ADGRA3 p.Asn1091Ser Uncertain significance Multiple submitters
- ADGRA3 p.Asn1108Asp Uncertain significance Multiple submitters
- ADGRA3 p.Asn1128Ser Uncertain significance Multiple submitters
- ADGRA3 p.Asn1133Ser Uncertain significance Multiple submitters
- ADGRA3 p.Asn1165Thr Uncertain significance Multiple submitters
- ADGRA3 p.Asn1233Ser Uncertain significance Multiple submitters
- ADGRA3 p.Asn965Ser Uncertain significance Multiple submitters
- ADGRA3 p.Asp236Glu Uncertain significance Multiple submitters
- ADGRA3 p.Asp408Val Uncertain significance Multiple submitters
- ADGRA3 p.Cys214Trp Uncertain significance Multiple submitters
- ADGRA3 p.Gln1161His Uncertain significance Multiple submitters
- ADGRA3 p.Gln1231Glu Uncertain significance Multiple submitters
- ADGRA3 p.Gln1277Arg Uncertain significance Multiple submitters
- ADGRA3 p.Gln72Glu Uncertain significance Multiple submitters
- ADGRA3 p.Gln733Glu Uncertain significance Multiple submitters
- ADGRA3 p.Gly1205Ser Uncertain significance Multiple submitters
-
ADGRA3 p.Gly1303Ser
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Gly227Ser Uncertain significance Multiple submitters
- ADGRA3 p.Gly291Asp Uncertain significance Multiple submitters
- ADGRA3 p.His1126Arg Uncertain significance Multiple submitters
- ADGRA3 p.His1317Gln Uncertain significance Multiple submitters
- ADGRA3 p.His199Leu Uncertain significance Multiple submitters
- ADGRA3 p.His381Arg Uncertain significance Multiple submitters
- ADGRA3 p.His972Asn Uncertain significance Multiple submitters
- ADGRA3 p.Ile148Val Uncertain significance Multiple submitters
- ADGRA3 p.Ile722Val Uncertain significance Multiple submitters
- ADGRA3 p.Ile891Val Uncertain significance Multiple submitters
- ADGRA3 p.Ile938Thr Uncertain significance Multiple submitters
- ADGRA3 p.Leu962Met Uncertain significance Multiple submitters
- ADGRA3 p.Lys1107Arg Uncertain significance Multiple submitters
- ADGRA3 p.Lys1152Gln Uncertain significance Multiple submitters
- ADGRA3 p.Lys1279Asn Uncertain significance Multiple submitters
- ADGRA3 p.Lys296Asn Uncertain significance Multiple submitters
- ADGRA3 p.Lys623Arg Uncertain significance Multiple submitters
- ADGRA3 p.Lys856Gln Uncertain significance Multiple submitters
-
ADGRA3 p.Met1147Thr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Met198Val Uncertain significance Multiple submitters
- ADGRA3 p.Met430Leu Uncertain significance Multiple submitters
-
ADGRA3 p.Met976Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Phe1042Leu Uncertain significance Multiple submitters
- ADGRA3 p.Pro1076Ser Uncertain significance Multiple submitters
- ADGRA3 p.Pro1077Ser Uncertain significance Multiple submitters
- ADGRA3 p.Pro217Leu Uncertain significance Multiple submitters
- ADGRA3 p.Pro237Leu Uncertain significance Multiple submitters
-
ADGRA3 p.Pro907His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Ser1169Asn Uncertain significance Multiple submitters
- ADGRA3 p.Ser1280Pro Uncertain significance Multiple submitters
- ADGRA3 p.Ser318Ala Uncertain significance Multiple submitters
- ADGRA3 p.Ser632Cys Uncertain significance Multiple submitters
- ADGRA3 p.Ser925Thr Uncertain significance Multiple submitters
- ADGRA3 p.Thr1135Ile Uncertain significance Multiple submitters
- ADGRA3 p.Thr1143Ser Uncertain significance Multiple submitters
- ADGRA3 p.Thr208Ala Uncertain significance Multiple submitters
- ADGRA3 p.Thr366Ala Uncertain significance Multiple submitters
- ADGRA3 p.Thr377Met Uncertain significance Multiple submitters
- ADGRA3 p.Thr448Ile Uncertain significance Multiple submitters
- ADGRA3 p.Thr553Ala Uncertain significance Multiple submitters
- ADGRA3 p.Thr558Ala Uncertain significance Multiple submitters
-
ADGRA3 p.Thr629Ala
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Thr731Lys Uncertain significance Multiple submitters
- ADGRA3 p.Tyr1227His Uncertain significance Multiple submitters
- ADGRA3 p.Tyr735His Uncertain significance Multiple submitters
-
ADGRA3 p.Tyr934Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Val1017Ile Uncertain significance Multiple submitters
- ADGRA3 p.Val1026Ile Uncertain significance Multiple submitters
-
ADGRA3 p.Val1198Met
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Val438Met Uncertain significance Multiple submitters
-
ADGRA3 p.Val485Met
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Ala1008Ser Uncertain significance Single submitter
- ADGRA3 p.Ala1040Val Uncertain significance Single submitter
- ADGRA3 p.Ala1086Gly Uncertain significance Single submitter
- ADGRA3 p.Ala1086Val Uncertain significance Single submitter
- ADGRA3 p.Ala1094Gly Uncertain significance Single submitter
- ADGRA3 p.Ala1120Glu Uncertain significance Single submitter
- ADGRA3 p.Ala1123Val Uncertain significance Single submitter
- ADGRA3 p.Ala1156Val Uncertain significance Single submitter
- ADGRA3 p.Ala11Gly Uncertain significance Single submitter
- ADGRA3 p.Ala1265Thr Uncertain significance Single submitter
- ADGRA3 p.Ala1265Val Uncertain significance Single submitter
- ADGRA3 p.Ala177Glu Uncertain significance Single submitter
- ADGRA3 p.Ala177Thr Uncertain significance Single submitter
- ADGRA3 p.Ala23Ser Uncertain significance Single submitter
- ADGRA3 p.Ala23Val Uncertain significance Single submitter
- ADGRA3 p.Ala306Gly Uncertain significance Single submitter
- ADGRA3 p.Ala446Val Uncertain significance Single submitter
- ADGRA3 p.Ala504Val Uncertain significance Single submitter
- ADGRA3 p.Ala52Pro Uncertain significance Single submitter
- ADGRA3 p.Ala52Ser Uncertain significance Single submitter
- ADGRA3 p.Ala564Val Uncertain significance Single submitter
- ADGRA3 p.Ala657Val Uncertain significance Single submitter
- ADGRA3 p.Ala71Thr Uncertain significance Single submitter
- ADGRA3 p.Ala71Val Uncertain significance Single submitter
- ADGRA3 p.Ala767Thr Uncertain significance Single submitter
- ADGRA3 p.Ala767Val Uncertain significance Single submitter
- ADGRA3 p.Ala838Thr Uncertain significance Single submitter
- ADGRA3 p.Ala893Thr Uncertain significance Single submitter
- ADGRA3 p.Ala963Thr Uncertain significance Single submitter
- ADGRA3 p.Arg1163Leu Uncertain significance Single submitter
- ADGRA3 p.Arg1180Gln Uncertain significance Single submitter
- ADGRA3 p.Arg1180Trp Uncertain significance Single submitter
- ADGRA3 p.Arg140Gln Uncertain significance Single submitter
- ADGRA3 p.Arg140Leu Uncertain significance Single submitter
- ADGRA3 p.Arg157Trp Uncertain significance Single submitter
- ADGRA3 p.Arg330Cys Uncertain significance Single submitter
-
ADGRA3 p.Arg330His
Uncertain significance
Single submitter
optic atrophy
- ADGRA3 p.Arg378Leu Uncertain significance Single submitter
- ADGRA3 p.Arg398His Uncertain significance Single submitter
- ADGRA3 p.Arg399Ile Uncertain significance Single submitter
- ADGRA3 p.Arg413His Uncertain significance Single submitter
- ADGRA3 p.Arg442Gln Uncertain significance Single submitter
- ADGRA3 p.Arg472Lys Uncertain significance Single submitter
- ADGRA3 p.Arg472Ser Uncertain significance Single submitter
- ADGRA3 p.Arg499Gly Uncertain significance Single submitter
- ADGRA3 p.Arg506Lys Uncertain significance Single submitter
- ADGRA3 p.Arg513Lys Uncertain significance Single submitter
- ADGRA3 p.Arg520Gly Uncertain significance Single submitter
- ADGRA3 p.Arg520Leu Uncertain significance Single submitter
- ADGRA3 p.Arg576Lys Uncertain significance Single submitter
-
ADGRA3 p.Arg627Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
- ADGRA3 p.Arg642Cys Uncertain significance Single submitter
- ADGRA3 p.Arg691Cys Uncertain significance Single submitter
Predictors split 238
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 238
- ADGRA3 p.Ala26Pro Uncertain significance Multiple submitters
- ADGRA3 p.Ala490Thr Uncertain significance Multiple submitters
- ADGRA3 p.Ala847Thr Uncertain significance Multiple submitters
- ADGRA3 p.Arg1065Gln Uncertain significance Multiple submitters
-
ADGRA3 p.Arg200His
Benign/Likely benign
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Arg210Trp Uncertain significance Multiple submitters
- ADGRA3 p.Arg330Gly Uncertain significance Multiple submitters
- ADGRA3 p.Arg378Trp Uncertain significance Multiple submitters
-
ADGRA3 p.Arg525Trp
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Arg6Cys Uncertain significance Multiple submitters
- ADGRA3 p.Arg7Gln Uncertain significance Multiple submitters
- ADGRA3 p.Asn539Ser Uncertain significance Multiple submitters
- ADGRA3 p.Asp1024Gly Uncertain significance Multiple submitters
- ADGRA3 p.Asp270Gly Uncertain significance Multiple submitters
- ADGRA3 p.Gln637His Uncertain significance Multiple submitters
- ADGRA3 p.Glu60Lys Uncertain significance Multiple submitters
- ADGRA3 p.Gly1282Asp Uncertain significance Multiple submitters
-
ADGRA3 p.Gly1303Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Gly30Asp Uncertain significance Multiple submitters
- ADGRA3 p.Gly31Ser Uncertain significance Multiple submitters
- ADGRA3 p.Gly323Asp Uncertain significance Multiple submitters
- ADGRA3 p.Gly388Arg Uncertain significance Multiple submitters
-
ADGRA3 p.Gly57Ser
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Gly882Asp Uncertain significance Multiple submitters
- ADGRA3 p.Ile489Thr Uncertain significance Multiple submitters
- ADGRA3 p.Ile782Met Uncertain significance Multiple submitters
- ADGRA3 p.Leu1036Phe Uncertain significance Multiple submitters
- ADGRA3 p.Leu160Ile Benign Multiple submitters
- ADGRA3 p.Leu21Val Benign Multiple submitters
- ADGRA3 p.Leu759Arg Uncertain significance Multiple submitters
-
ADGRA3 p.Leu798Phe
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Lys132Glu Uncertain significance Multiple submitters
- ADGRA3 p.Met1153Ile Uncertain significance Multiple submitters
- ADGRA3 p.Phe255Ser Uncertain significance Multiple submitters
- ADGRA3 p.Phe929Leu Uncertain significance Multiple submitters
- ADGRA3 p.Pro18Arg Benign Multiple submitters
- ADGRA3 p.Pro75Ser Uncertain significance Multiple submitters
- ADGRA3 p.Ser1218Leu Uncertain significance Multiple submitters
- ADGRA3 p.Ser412Phe Uncertain significance Multiple submitters
- ADGRA3 p.Ser598Leu Uncertain significance Multiple submitters
- ADGRA3 p.Ser937Arg Uncertain significance Multiple submitters
- ADGRA3 p.Ser977Tyr Uncertain significance Multiple submitters
- ADGRA3 p.Thr1196Arg Benign Multiple submitters
-
ADGRA3 p.Thr1196Met
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADGRA3 p.Thr208Met Uncertain significance Multiple submitters
- ADGRA3 p.Thr334Met Uncertain significance Multiple submitters
- ADGRA3 p.Thr629Ile Uncertain significance Multiple submitters
- ADGRA3 p.Thr731Met Uncertain significance Multiple submitters
- ADGRA3 p.Thr747Met Uncertain significance Multiple submitters
- ADGRA3 p.Thr817Ala Uncertain significance Multiple submitters
- ADGRA3 p.Thr819Ala Uncertain significance Multiple submitters
- ADGRA3 p.Tyr245Cys Uncertain significance Multiple submitters
- ADGRA3 p.Val1202Met Uncertain significance Multiple submitters
- ADGRA3 p.Val460Ile Uncertain significance Multiple submitters
- ADGRA3 p.Val799Gly Uncertain significance Multiple submitters
- ADGRA3 p.Ala1016Ser Uncertain significance Single submitter
- ADGRA3 p.Ala1056Gly Uncertain significance Single submitter
- ADGRA3 p.Ala1056Pro Uncertain significance Single submitter
- ADGRA3 p.Ala1056Thr Uncertain significance Single submitter
- ADGRA3 p.Ala1056Val Uncertain significance Single submitter
- ADGRA3 p.Ala11Val Uncertain significance Single submitter
- ADGRA3 p.Ala23Thr Uncertain significance Single submitter
- ADGRA3 p.Ala266Val Uncertain significance Single submitter
- ADGRA3 p.Ala316Asp Uncertain significance Single submitter
- ADGRA3 p.Ala36Pro Uncertain significance Single submitter
- ADGRA3 p.Ala37Ser Uncertain significance Single submitter
- ADGRA3 p.Ala37Val Uncertain significance Single submitter
- ADGRA3 p.Ala490Val Uncertain significance Single submitter
- ADGRA3 p.Ala52Thr Uncertain significance Single submitter
- ADGRA3 p.Ala541Ser Uncertain significance Single submitter
- ADGRA3 p.Ala56Val Uncertain significance Single submitter
- ADGRA3 p.Ala702Gly Uncertain significance Single submitter
- ADGRA3 p.Ala741Gly Uncertain significance Single submitter
- ADGRA3 p.Ala895Val Uncertain significance Single submitter
- ADGRA3 p.Arg1054Thr Uncertain significance Single submitter
-
ADGRA3 p.Arg1065Trp
Uncertain significance
Single submitter
inherited retinal dystrophy
- ADGRA3 p.Arg109Ser Uncertain significance Single submitter
- ADGRA3 p.Arg10Ser Uncertain significance Single submitter
- ADGRA3 p.Arg113Gln Uncertain significance Single submitter
- ADGRA3 p.Arg1170Cys Uncertain significance Single submitter
- ADGRA3 p.Arg1210Trp Uncertain significance Single submitter
- ADGRA3 p.Arg200Cys Uncertain significance Single submitter
- ADGRA3 p.Arg210Pro Uncertain significance Single submitter
- ADGRA3 p.Arg251His Uncertain significance Single submitter
- ADGRA3 p.Arg353Ser Uncertain significance Single submitter
- ADGRA3 p.Arg413Cys Uncertain significance Single submitter
- ADGRA3 p.Arg499Cys Uncertain significance Single submitter
-
ADGRA3 p.Arg520Cys
Uncertain significance
Single submitter
inherited retinal dystrophy
- ADGRA3 p.Arg568Cys Uncertain significance Single submitter
- ADGRA3 p.Arg577Trp Uncertain significance Single submitter
- ADGRA3 p.Arg642His Uncertain significance Single submitter
- ADGRA3 p.Arg663Cys Uncertain significance Single submitter
- ADGRA3 p.Arg7Trp Uncertain significance Single submitter
- ADGRA3 p.Arg8Gln Uncertain significance Single submitter
- ADGRA3 p.Arg903Trp Uncertain significance Single submitter
- ADGRA3 p.Arg948Cys Uncertain significance Single submitter
- ADGRA3 p.Arg948Gly Uncertain significance Single submitter
- ADGRA3 p.Arg948His Uncertain significance Single submitter
- ADGRA3 p.Asn1128Ile Uncertain significance Single submitter
- ADGRA3 p.Asn899Lys Uncertain significance Single submitter
- ADGRA3 p.Asp1024Glu Uncertain significance Single submitter
- ADGRA3 p.Asp174Gly Uncertain significance Single submitter
- ADGRA3 p.Asp174Val Uncertain significance Single submitter
- ADGRA3 p.Asp272Gly Uncertain significance Single submitter
- ADGRA3 p.Asp280Gly Uncertain significance Single submitter
- ADGRA3 p.Asp46His Conflicting Single submitter
- ADGRA3 p.Asp675Gly Uncertain significance Single submitter
- ADGRA3 p.Asp698Val Uncertain significance Single submitter
- ADGRA3 p.Asp718Asn Uncertain significance Single submitter
- ADGRA3 p.Cys1047Phe Uncertain significance Single submitter
- ADGRA3 p.Cys517Tyr Uncertain significance Single submitter
- ADGRA3 p.Cys802Gly Uncertain significance Single submitter
- ADGRA3 p.Gln279Glu Uncertain significance Single submitter
- ADGRA3 p.Glu1144Gly Uncertain significance Single submitter
- ADGRA3 p.Glu2Lys Uncertain significance Single submitter
- ADGRA3 p.Glu476Gln Uncertain significance Single submitter
- ADGRA3 p.Glu957Asp Uncertain significance Single submitter
- ADGRA3 p.Gly1084Glu Conflicting Single submitter
- ADGRA3 p.Gly123Ala Uncertain significance Single submitter
- ADGRA3 p.Gly1313Glu Uncertain significance Single submitter
- ADGRA3 p.Gly281Glu Uncertain significance Single submitter
- ADGRA3 p.Gly29Arg Uncertain significance Single submitter
- ADGRA3 p.Gly31Asp Uncertain significance Single submitter
-
ADGRA3 p.Gly32Val
Uncertain significance
Single submitter
inherited retinal dystrophy
- ADGRA3 p.Gly35Asp Uncertain significance Single submitter
- ADGRA3 p.Gly53Asp Uncertain significance Single submitter
- ADGRA3 p.Gly5Val Uncertain significance Single submitter
- ADGRA3 p.Gly711Arg Uncertain significance Single submitter
- ADGRA3 p.Gly844Glu Uncertain significance Single submitter
- ADGRA3 p.Gly901Val Uncertain significance Single submitter
- ADGRA3 p.His300Asp Uncertain significance Single submitter
- ADGRA3 p.His325Pro Uncertain significance Single submitter
- ADGRA3 p.Ile489Phe Uncertain significance Single submitter
- ADGRA3 p.Ile611Leu Uncertain significance Single submitter
- ADGRA3 p.Ile674Thr Uncertain significance Single submitter
- ADGRA3 p.Ile722Met Uncertain significance Single submitter
- ADGRA3 p.Ile897Phe Uncertain significance Single submitter
- ADGRA3 p.Ile940Phe Uncertain significance Single submitter
- ADGRA3 p.Ile940Thr Uncertain significance Single submitter
- ADGRA3 p.Leu1003Ser Uncertain significance Single submitter
-
ADGRA3 p.Leu1015Ser
Conflicting
Single submitter
inherited retinal dystrophy
- ADGRA3 p.Leu1023Val Uncertain significance Single submitter
- ADGRA3 p.Leu1115Ser Uncertain significance Single submitter
- ADGRA3 p.Leu1246Phe Uncertain significance Single submitter
- ADGRA3 p.Leu17Val Uncertain significance Single submitter
- ADGRA3 p.Leu22Val Uncertain significance Single submitter
- ADGRA3 p.Leu24Pro Uncertain significance Single submitter
- ADGRA3 p.Leu70Phe Uncertain significance Single submitter
- ADGRA3 p.Leu801Met Uncertain significance Single submitter
- ADGRA3 p.Leu879Val Uncertain significance Single submitter
All ADGRA3 variants
Conflicting classifications of pathogenicity 16
- p.Ala1094Val Single submitter inherited retinal dystrophy ⚠
- p.Arg362= Single submitter
- p.Asn1078Ser Single submitter inherited retinal dystrophy ⚠
- p.Asn1204= Single submitter inherited retinal dystrophy
- p.Asn1276His Single submitter ⚠
- p.Asp287Asn Single submitter inherited retinal dystrophy ⚠
- p.Asp46His Single submitter ⚠
- p.Gly103= Single submitter inherited retinal dystrophy
- p.Gly1084Glu Single submitter ⚠
- p.Leu1015Ser Single submitter inherited retinal dystrophy ⚠
- p.Lys205Arg Single submitter ⚠
- p.Lys509Ile Single submitter ⚠
- p.Met1153Thr Single submitter ⚠
- p.Thr553= Single submitter inherited retinal dystrophy
- p.Thr558= Single submitter inherited retinal dystrophy
- p.Thr569Ile Single submitter inherited retinal dystrophy ⚠
Benign 34
- c.1085+20C>T Multiple submitters
- c.2024-13C>T Multiple submitters
- c.2481+20C>T Multiple submitters
- c.2724-14A>G Multiple submitters
- p.Ala1040= Multiple submitters
- p.Ala1156= Multiple submitters
- p.Ala755Val Multiple submitters inherited retinal dystrophy
- p.Ala912= Multiple submitters inherited retinal dystrophy
- p.Arg1221Gln Multiple submitters inherited retinal dystrophy
- p.Asn967= Multiple submitters
- p.Asp484= Multiple submitters
- p.Gly227= Multiple submitters inherited retinal dystrophy
- p.Ile141Leu Multiple submitters
- p.Ile514= Multiple submitters inherited retinal dystrophy
- p.Leu160Ile Multiple submitters ⚠
- p.Leu21Val Multiple submitters ⚠
- p.Leu671= Multiple submitters inherited retinal dystrophy
- p.Lys852Asn Multiple submitters inherited retinal dystrophy
- p.Pro18Arg Multiple submitters ⚠
- p.Pro350= Multiple submitters inherited retinal dystrophy
- p.Thr1082Met Multiple submitters inherited retinal dystrophy
- p.Thr1196Arg Multiple submitters ⚠
- p.Thr286= Multiple submitters inherited retinal dystrophy
- p.Thr766= Multiple submitters inherited retinal dystrophy
- p.Val1043Met Multiple submitters inherited retinal dystrophy
- p.Val1166Gly Multiple submitters inherited retinal dystrophy
- c.1810-15T>A Single submitter
- c.2358-6A>T Single submitter
- c.2358-7dup Single submitter
- c.402-14A>G Single submitter
- c.545+18del Single submitter
- c.920+13T>A Single submitter
- p.Ala1270= Single submitter
- p.Leu1005= Single submitter
Benign/Likely benign 3
- p.Arg200His Multiple submitters inherited retinal dystrophy ⚠
- p.Asn905= Multiple submitters inherited retinal dystrophy
- p.Ile768Val Multiple submitters
Likely benign 319
Showing the top 300 by review status; the full set is in the sitemap.
- c.1810-10A>T Multiple submitters
- p.Ala1181= Multiple submitters inherited retinal dystrophy
- p.Ala437= Multiple submitters
- p.Gly33_Gly35del Multiple submitters
- p.Gly528Ser Multiple submitters inherited retinal dystrophy
- p.Ile790= Multiple submitters inherited retinal dystrophy
- p.Phe552= Multiple submitters inherited retinal dystrophy
- p.Pro242= Multiple submitters inherited retinal dystrophy
- p.Ser318= Multiple submitters inherited retinal dystrophy
- p.Val546= Multiple submitters
- c.1086-4C>T Single submitter
- c.1086-9C>T Single submitter
- c.1287+14C>G Single submitter
- c.1287+18A>G Single submitter
- c.1288-10T>C Single submitter
- c.1288-13C>G Single submitter
- c.1443+7C>G Single submitter
- c.1443+9_1443+10del Single submitter
- c.1443+9C>G Single submitter
- c.1444-13G>C Single submitter
- c.1444-19T>C Single submitter
- c.1444-9C>T Single submitter
- c.1605+17C>T Single submitter
- c.1606-16T>C Single submitter
- c.1810-12A>G Single submitter
- c.2023+16_2023+17del Single submitter
- c.2023+17T>C Single submitter
- c.2023+18G>A Single submitter
- c.2023+7A>G Single submitter
- c.2024-11A>G Single submitter
- c.2024-19T>C Single submitter
- c.2232+14T>C Single submitter
- c.2232+20T>A Single submitter
- c.2232+20T>C Single submitter
- c.2232+9G>A Single submitter
- c.2233-14_2233-11del Single submitter
- c.2233-14C>A Single submitter
- c.2233-17T>C Single submitter
- c.2233-5C>T Single submitter
- c.2357+11C>A Single submitter
- c.2357+14C>T Single submitter
- c.2357+16C>A Single submitter
- c.2357+16C>T Single submitter
- c.2357+17G>A Single submitter
- c.2357+8A>G Single submitter
- c.2358-6A>G Single submitter
- c.2358-7T>A Single submitter
- c.2481+13G>A Single submitter
- c.2482-20T>C Single submitter
- c.2482-4G>A Single submitter
- c.2482-8_2482-5del Single submitter
- c.2482-8C>T Single submitter
- c.257+14G>C Single submitter
- c.257+19G>A Single submitter
- c.257+19G>T Single submitter
- c.257+20C>T Single submitter
- c.257+9C>T Single submitter
- c.258-15T>C Single submitter
- c.258-20del Single submitter
- c.258-4T>C Single submitter
- c.2627+10_2627+11del Single submitter
- c.2627+10A>G Single submitter
- c.2627+15dup Single submitter
- c.2627+8A>C Single submitter
- c.2628-10C>G Single submitter
- c.2628-10C>T Single submitter
- c.2628-11C>A Single submitter
- c.2628-11C>T Single submitter
- c.2628-18T>C Single submitter
- c.2628-19C>G Single submitter
- c.2628-5T>C Single submitter
- c.2628-7C>T Single submitter
- c.2723+13T>C Single submitter
- c.2723+18T>G Single submitter
- c.2723+20T>A Single submitter
- c.2723+20T>C Single submitter
- c.2723+7A>G Single submitter
- c.2724-11T>C Single submitter
- c.2724-13T>C Single submitter
- c.2724-9C>A Single submitter
- c.329+19T>A Single submitter
- c.329+9del Single submitter
- c.330-11_330-7del Single submitter
- c.330-11A>G Single submitter inherited retinal dystrophy
- c.330-18T>C Single submitter
- c.330-5A>G Single submitter
- c.401+13A>G Single submitter
- c.402-11C>G Single submitter
- c.402-13C>T Single submitter
- c.402-6C>T Single submitter
- c.473+10T>C Single submitter
- c.473+16C>A Single submitter
- c.473+7A>G Single submitter
- c.473+9A>G Single submitter
- c.474-20_474-19del Single submitter
- c.474-20A>G Single submitter
- c.545+17T>C Single submitter
- c.545+19C>A Single submitter
- c.545+9_545+11dup Single submitter
- c.546-18dup Single submitter
- c.546-20G>A Single submitter
- c.706+15del Single submitter
- c.706+7G>A Single submitter
- c.707-10T>C Single submitter
- c.707-16G>A Single submitter
- c.707-17T>C Single submitter
- c.707-4C>T Single submitter
- c.921-10_921-7del Single submitter
- c.921-13_921-12inv Single submitter
- c.921-7T>C Single submitter
- p.Ala1008= Single submitter
- p.Ala1016= Single submitter
- p.Ala1056= Single submitter
- p.Ala1094= Single submitter
- p.Ala1120= Single submitter
- p.Ala177= Single submitter
- p.Ala23= Single submitter
- p.Ala316= Single submitter
- p.Ala36= Single submitter
- p.Ala37= Single submitter
- p.Ala407= Single submitter
- p.Ala41= Single submitter
- p.Ala490= Single submitter
- p.Ala504= Single submitter
- p.Ala527= Single submitter
- p.Ala530= Single submitter
- p.Ala544= Single submitter
- p.Ala56= Single submitter
- p.Ala601= Single submitter
- p.Ala609= Single submitter
- p.Ala694= Single submitter
- p.Ala755= Single submitter
- p.Ala767= Single submitter
- p.Ala776= Single submitter
- p.Ala838= Single submitter
- p.Ala894= Single submitter
- p.Ala985= Single submitter
- p.Arg1210= Single submitter
- p.Arg150= Single submitter
- p.Arg213= Single submitter
- p.Arg442= Single submitter
- p.Arg50= Single submitter
- p.Arg568His Single submitter
- p.Arg7= Single submitter
- p.Arg820= Single submitter
- p.Arg848= Single submitter
- p.Arg903= Single submitter
- p.Asn1049= Single submitter
- p.Asn1073= Single submitter
- p.Asn1100= Single submitter
- p.Asn1165= Single submitter
- p.Asn1214= Single submitter
- p.Asn1214His Single submitter
- p.Asn1284= Single submitter
- p.Asn297= Single submitter
- p.Asn321= Single submitter
- p.Asn539= Single submitter
- p.Asn643= Single submitter
- p.Asn710= Single submitter
- p.Asp111= Single submitter
- p.Asp1238= Single submitter
- p.Asp236= Single submitter
- p.Asp456= Single submitter
- p.Asp459= Single submitter
- p.Asp497= Single submitter
- p.Asp658= Single submitter
- p.Cys1062= Single submitter
- p.Cys349= Single submitter
- p.Cys511= Single submitter
- p.Cys889= Single submitter
- p.Gln1119= Single submitter
- p.Gln1137= Single submitter
- p.Gln12= Single submitter
- p.Gln1288= Single submitter
- p.Gln185= Single submitter
- p.Gln223= Single submitter
- p.Gln612= Single submitter
- p.Gln959= Single submitter
- p.Glu1229= Single submitter
- p.Glu393= Single submitter
- p.Glu476= Single submitter
- p.Glu507= Single submitter
- p.Glu60= Single submitter
- p.Glu625= Single submitter
- p.Glu750= Single submitter
- p.Glu95= Single submitter
- p.Glu951= Single submitter
- p.Glu957= Single submitter
- p.Gly1084= Single submitter
- p.Gly1112= Single submitter
- p.Gly1178= Single submitter
- p.Gly1205= Single submitter
- p.Gly1290= Single submitter
- p.Gly291= Single submitter
- p.Gly317= Single submitter
- p.Gly34= Single submitter
- p.Gly369= Single submitter
- p.Gly388= Single submitter
- p.Gly47= Single submitter
- p.Gly5= Single submitter
- p.Gly696= Single submitter
- p.His1154= Single submitter
- p.His1317= Single submitter
- p.His531= Single submitter
- p.His682= Single submitter
- p.His683= Single submitter
- p.Ile370= Single submitter
- p.Ile489= Single submitter
- p.Ile722= Single submitter
- p.Ile768= Single submitter
- p.Ile831= Single submitter
- p.Ile887= Single submitter
- p.Leu1015= Single submitter
- p.Leu1115= Single submitter
- p.Leu1118= Single submitter
- p.Leu1302= Single submitter
- p.Leu16= Single submitter
- p.Leu17= Single submitter
- p.Leu179= Single submitter
- p.Leu19= Single submitter
- p.Leu24= Single submitter
- p.Leu276= Single submitter
- p.Leu367= Single submitter
- p.Leu445= Single submitter
- p.Leu482= Single submitter
- p.Leu587= Single submitter
- p.Leu690= Single submitter
- p.Leu70= Single submitter
- p.Leu759= Single submitter
- p.Leu771= Single submitter
- p.Leu79= Single submitter
- p.Leu841= Single submitter
- p.Leu879= Single submitter
- p.Leu88= Single submitter
- p.Leu917= Single submitter
- p.Leu978= Single submitter
- p.Leu980= Single submitter
- p.Lys229= Single submitter
- p.Lys585= Single submitter
- p.Met874Val Single submitter
- p.Phe1029= Single submitter
- p.Phe706= Single submitter
- p.Phe926= Single submitter
- p.Phe935= Single submitter
- p.Phe992= Single submitter
- p.Pro1063= Single submitter
- p.Pro1077= Single submitter
- p.Pro1157= Single submitter
- p.Pro224= Single submitter
- p.Pro238= Single submitter
- p.Pro350Leu Single submitter
- p.Pro4= Single submitter
- p.Pro40= Single submitter
- p.Pro685= Single submitter
- p.Pro75= Single submitter
- p.Pro904= Single submitter
- p.Ser1110= Single submitter
- p.Ser1134= Single submitter
- p.Ser1197= Single submitter
- p.Ser1201= Single submitter
- p.Ser161= Single submitter
- p.Ser167= Single submitter inherited retinal dystrophy
- p.Ser20= Single submitter
- p.Ser267= Single submitter
- p.Ser289= Single submitter
- p.Ser289Leu Single submitter ⚠
- p.Ser383= Single submitter
- p.Ser512= Single submitter
- p.Ser572= Single submitter
- p.Ser598= Single submitter
- p.Ser632= Single submitter
- p.Ser786= Single submitter
- p.Ser94= Single submitter
- p.Ser94Pro Single submitter ⚠
- p.Ser975= Single submitter
- p.Thr1060= Single submitter
- p.Thr1082= Single submitter
- p.Thr1259= Single submitter
- p.Thr1304= Single submitter
- p.Thr208= Single submitter
- p.Thr234= Single submitter
- p.Thr334= Single submitter
- p.Thr366= Single submitter
- p.Thr377= Single submitter
- p.Thr380= Single submitter
- p.Thr440= Single submitter
- p.Thr569= Single submitter
- p.Thr596= Single submitter
- p.Thr664= Single submitter
- p.Thr667= Single submitter
- p.Thr747= Single submitter
- p.Thr817= Single submitter
- p.Thr846= Single submitter
- p.Thr855= Single submitter
- p.Tyr1190= Single submitter
- p.Tyr1192= Single submitter
- p.Tyr1281= Single submitter
- p.Tyr545= Single submitter
- p.Tyr851= Single submitter
- p.Tyr878= Single submitter
Uncertain significance 726
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1008Val Multiple submitters ⚠
- p.Ala1120Val Multiple submitters ⚠
- p.Ala1127Ser Multiple submitters ⚠
- p.Ala177Val Multiple submitters ⚠
- p.Ala26Pro Multiple submitters ⚠
- p.Ala316Pro Multiple submitters ADGRA3-related disorder ⚠
- p.Ala37Gly Multiple submitters ⚠
- p.Ala407Thr Multiple submitters ⚠
- p.Ala437Val Multiple submitters ⚠
- p.Ala490Thr Multiple submitters ⚠
- p.Ala527Asp Multiple submitters ⚠
- p.Ala847Thr Multiple submitters ⚠
- p.Ala858Val Multiple submitters ⚠
- p.Arg1065Gln Multiple submitters ⚠
- p.Arg1163Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg1170His Multiple submitters ⚠
- p.Arg1210Gln Multiple submitters ⚠
- p.Arg1222Gly Multiple submitters ⚠
- p.Arg1267Lys Multiple submitters ⚠
- p.Arg1311Lys Multiple submitters ⚠
- p.Arg150Gln Multiple submitters ⚠
- p.Arg157Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg210Gln Multiple submitters ⚠
- p.Arg210Trp Multiple submitters ⚠
- p.Arg251Cys Multiple submitters ⚠
- p.Arg330Gly Multiple submitters ⚠
- p.Arg378Gln Multiple submitters ⚠
- p.Arg378Trp Multiple submitters ⚠
- p.Arg472Thr Multiple submitters ⚠
- p.Arg50Gly Multiple submitters ⚠
- p.Arg520His Multiple submitters ⚠
- p.Arg525Gln Multiple submitters ⚠
- p.Arg525Trp Multiple submitters inherited retinal dystrophy ⚠
- p.Arg568Pro Multiple submitters ⚠
- p.Arg577Gln Multiple submitters ⚠
- p.Arg642Ser Multiple submitters ⚠
- p.Arg663His Multiple submitters ⚠
- p.Arg6Cys Multiple submitters ⚠
- p.Arg7Gln Multiple submitters ⚠
- p.Asn1091Ser Multiple submitters ⚠
- p.Asn1108Asp Multiple submitters ⚠
- p.Asn1128Ser Multiple submitters ⚠
- p.Asn1133Ser Multiple submitters ⚠
- p.Asn1165Thr Multiple submitters ⚠
- p.Asn1233Ser Multiple submitters ⚠
- p.Asn539Ser Multiple submitters ⚠
- p.Asn965Ser Multiple submitters ⚠
- p.Asp1024Gly Multiple submitters ⚠
- p.Asp236Glu Multiple submitters ⚠
- p.Asp270Gly Multiple submitters ⚠
- p.Asp408Val Multiple submitters ⚠
- p.Cys214Trp Multiple submitters ⚠
- p.Gln1161His Multiple submitters ⚠
- p.Gln1231Glu Multiple submitters ⚠
- p.Gln1277Arg Multiple submitters ⚠
- p.Gln637His Multiple submitters ⚠
- p.Gln72Glu Multiple submitters ⚠
- p.Gln733Glu Multiple submitters ⚠
- p.Glu60Lys Multiple submitters ⚠
- p.Gly1205Ser Multiple submitters ⚠
- p.Gly1282Asp Multiple submitters ⚠
- p.Gly1303Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Gly1303Ser Multiple submitters inherited retinal dystrophy ⚠
- p.Gly227Ser Multiple submitters ⚠
- p.Gly291Asp Multiple submitters ⚠
- p.Gly30Asp Multiple submitters ⚠
- p.Gly31Ser Multiple submitters ⚠
- p.Gly323Asp Multiple submitters ⚠
- p.Gly33_Gly35dup Multiple submitters inherited retinal dystrophy
- p.Gly34_Gly35del Multiple submitters
- p.Gly388Arg Multiple submitters ⚠
- p.Gly57Ser Multiple submitters inherited retinal dystrophy ⚠
- p.Gly882Asp Multiple submitters ⚠
- p.His1126Arg Multiple submitters ⚠
- p.His1317Gln Multiple submitters ⚠
- p.His199Leu Multiple submitters ⚠
- p.His381Arg Multiple submitters ⚠
- p.His972Asn Multiple submitters ⚠
- p.Ile148Val Multiple submitters ⚠
- p.Ile489Thr Multiple submitters ⚠
- p.Ile722Val Multiple submitters ⚠
- p.Ile782Met Multiple submitters ⚠
- p.Ile891Val Multiple submitters ⚠
- p.Ile938Thr Multiple submitters ⚠
- p.Leu1036Phe Multiple submitters ⚠
- p.Leu759Arg Multiple submitters ⚠
- p.Leu798Phe Multiple submitters inherited retinal dystrophy ⚠
- p.Leu962Met Multiple submitters ⚠
- p.Lys1107Arg Multiple submitters ⚠
- p.Lys1152Gln Multiple submitters ⚠
- p.Lys1279Asn Multiple submitters ⚠
- p.Lys132Glu Multiple submitters ⚠
- p.Lys296Asn Multiple submitters ⚠
- p.Lys623Arg Multiple submitters ⚠
- p.Lys856Gln Multiple submitters ⚠
- p.Met1147Thr Multiple submitters inherited retinal dystrophy ⚠
- p.Met1153Ile Multiple submitters ⚠
- p.Met198Val Multiple submitters ⚠
- p.Met430Leu Multiple submitters ⚠
- p.Met976Val Multiple submitters inherited retinal dystrophy ⚠
- p.Phe1042Leu Multiple submitters ⚠
- p.Phe255Ser Multiple submitters ⚠
- p.Phe929Leu Multiple submitters ⚠
- p.Pro1076Ser Multiple submitters ⚠
- p.Pro1077Ser Multiple submitters ⚠
- p.Pro217Leu Multiple submitters ⚠
- p.Pro237Leu Multiple submitters ⚠
- p.Pro75Ser Multiple submitters ⚠
- p.Pro907His Multiple submitters inherited retinal dystrophy ⚠
- p.Ser1169Asn Multiple submitters ⚠
- p.Ser1218Leu Multiple submitters ⚠
- p.Ser1280Pro Multiple submitters ⚠
- p.Ser318Ala Multiple submitters ⚠
- p.Ser412Phe Multiple submitters ⚠
- p.Ser598Leu Multiple submitters ⚠
- p.Ser632Cys Multiple submitters ⚠
- p.Ser925Thr Multiple submitters ⚠
- p.Ser937Arg Multiple submitters ⚠
- p.Ser977Tyr Multiple submitters ⚠
- p.Thr1135Ile Multiple submitters ⚠
- p.Thr1143Ser Multiple submitters ⚠
- p.Thr1196Met Multiple submitters inherited retinal dystrophy ⚠
- p.Thr208Ala Multiple submitters ⚠
- p.Thr208Met Multiple submitters ⚠
- p.Thr334Met Multiple submitters ⚠
- p.Thr366Ala Multiple submitters ⚠
- p.Thr377Met Multiple submitters ⚠
- p.Thr448Ile Multiple submitters ⚠
- p.Thr553Ala Multiple submitters ⚠
- p.Thr558Ala Multiple submitters ⚠
- p.Thr629Ala Multiple submitters inherited retinal dystrophy ⚠
- p.Thr629Ile Multiple submitters ⚠
- p.Thr731Lys Multiple submitters ⚠
- p.Thr731Met Multiple submitters ⚠
- p.Thr747Met Multiple submitters ⚠
- p.Thr817Ala Multiple submitters ⚠
- p.Thr819Ala Multiple submitters ⚠
- p.Tyr1227His Multiple submitters ⚠
- p.Tyr245Cys Multiple submitters ⚠
- p.Tyr735His Multiple submitters ⚠
- p.Tyr934Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Val1017Ile Multiple submitters ⚠
- p.Val1026Ile Multiple submitters ⚠
- p.Val1198Met Multiple submitters inherited retinal dystrophy ⚠
- p.Val1202Met Multiple submitters ⚠
- p.Val438Met Multiple submitters ⚠
- p.Val460Ile Multiple submitters ⚠
- p.Val485Met Multiple submitters inherited retinal dystrophy ⚠
- p.Val799Gly Multiple submitters ⚠
- c.1085+4A>G Single submitter
- c.1443+1G>A Single submitter inherited retinal dystrophy
- c.1443+3A>T Single submitter
- c.1444-3T>C Single submitter
- c.1444-3T>G Single submitter
- c.1605+5G>A Single submitter
- c.1605+6T>G Single submitter
- c.1606-9C>G Single submitter
- c.1809+3A>G Single submitter
- c.1810-13T>G Single submitter
- c.2232+5G>T Single submitter
- c.2627+4T>C Single submitter
- c.2724-8_2724-4del Single submitter
- c.330-10_330-5del Single submitter
- c.330-2A>G Single submitter
- c.330-2A>T Single submitter
- c.401+3_401+6del Single submitter
- c.402-1G>A Single submitter
- c.473+6T>C Single submitter
- c.545+5G>A Single submitter
- c.545+6_545+9del Single submitter
- c.706+1G>A Single submitter
- c.707-10T>G Single submitter
- c.920+3A>G Single submitter
- p.Ala1008Ser Single submitter ⚠
- p.Ala1016Ser Single submitter ⚠
- p.Ala1040Val Single submitter ⚠
- p.Ala1056Gly Single submitter ⚠
- p.Ala1056Pro Single submitter ⚠
- p.Ala1056Thr Single submitter ⚠
- p.Ala1056Val Single submitter ⚠
- p.Ala1086Gly Single submitter ⚠
- p.Ala1086Val Single submitter ⚠
- p.Ala1094Gly Single submitter ⚠
- p.Ala1120Glu Single submitter ⚠
- p.Ala1123fs Single submitter
- p.Ala1123Val Single submitter ⚠
- p.Ala1156Val Single submitter ⚠
- p.Ala11Gly Single submitter ⚠
- p.Ala11Val Single submitter ⚠
- p.Ala1265Thr Single submitter ⚠
- p.Ala1265Val Single submitter ⚠
- p.Ala177Glu Single submitter ⚠
- p.Ala177Thr Single submitter ⚠
- p.Ala23Ser Single submitter ⚠
- p.Ala23Thr Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala266Val Single submitter ⚠
- p.Ala306Gly Single submitter ⚠
- p.Ala316Asp Single submitter ⚠
- p.Ala36Pro Single submitter ⚠
- p.Ala37Ser Single submitter ⚠
- p.Ala37Val Single submitter ⚠
- p.Ala446Val Single submitter ⚠
- p.Ala490Val Single submitter ⚠
- p.Ala504Val Single submitter ⚠
- p.Ala52Pro Single submitter ⚠
- p.Ala52Ser Single submitter ⚠
- p.Ala52Thr Single submitter ⚠
- p.Ala541Ser Single submitter ⚠
- p.Ala564Val Single submitter ⚠
- p.Ala56Val Single submitter ⚠
- p.Ala657Val Single submitter ⚠
- p.Ala702Gly Single submitter ⚠
- p.Ala71Thr Single submitter ⚠
- p.Ala71Val Single submitter ⚠
- p.Ala741Gly Single submitter ⚠
- p.Ala767Thr Single submitter ⚠
- p.Ala767Val Single submitter ⚠
- p.Ala827= Single submitter
- p.Ala838Thr Single submitter ⚠
- p.Ala893Thr Single submitter ⚠
- p.Ala895Val Single submitter ⚠
- p.Ala963Thr Single submitter ⚠
- p.Arg1054Thr Single submitter ⚠
- p.Arg1065Trp Single submitter inherited retinal dystrophy ⚠
- p.Arg109Ser Single submitter ⚠
- p.Arg10Ser Single submitter ⚠
- p.Arg113Gln Single submitter ⚠
- p.Arg113Ter Single submitter
- p.Arg1163Leu Single submitter ⚠
- p.Arg1170Cys Single submitter ⚠
- p.Arg1180Gln Single submitter ⚠
- p.Arg1180Trp Single submitter ⚠
- p.Arg1210Trp Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg140Leu Single submitter ⚠
- p.Arg157Trp Single submitter ⚠
- p.Arg200Cys Single submitter ⚠
- p.Arg210= Single submitter
- p.Arg210fs Single submitter
- p.Arg210Pro Single submitter ⚠
- p.Arg251His Single submitter ⚠
- p.Arg330Cys Single submitter ⚠
- p.Arg330His Single submitter optic atrophy ⚠
- p.Arg353Ser Single submitter ⚠
- p.Arg378Leu Single submitter ⚠
- p.Arg398His Single submitter ⚠
- p.Arg399Ile Single submitter ⚠
- p.Arg413Cys Single submitter ⚠
- p.Arg413His Single submitter ⚠
- p.Arg442delinsProValThrGlyLeuHisTer Single submitter
- p.Arg442Gln Single submitter ⚠
- p.Arg442Ter Single submitter
- p.Arg472Lys Single submitter ⚠
- p.Arg472Ser Single submitter ⚠
- p.Arg499Cys Single submitter ⚠
- p.Arg499Gly Single submitter ⚠
- p.Arg506Lys Single submitter ⚠
- p.Arg513Lys Single submitter ⚠
- p.Arg520Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg520Gly Single submitter ⚠
- p.Arg520Leu Single submitter ⚠
- p.Arg568Cys Single submitter ⚠
- p.Arg576Lys Single submitter ⚠
- p.Arg577Trp Single submitter ⚠
- p.Arg627Thr Single submitter inherited retinal dystrophy ⚠
- p.Arg642Cys Single submitter ⚠
- p.Arg642His Single submitter ⚠
- p.Arg663Cys Single submitter ⚠
- p.Arg691Cys Single submitter ⚠
- p.Arg691His Single submitter inherited retinal dystrophy ⚠
- p.Arg692Gln Single submitter ⚠
- p.Arg703Trp Single submitter ⚠
- p.Arg7Gly Single submitter ⚠
- p.Arg7Trp Single submitter ⚠
- p.Arg82Pro Single submitter ⚠
- p.Arg848Gln Single submitter ⚠
- p.Arg848Ter Single submitter
- p.Arg8Gln Single submitter ⚠
- p.Arg903Trp Single submitter ⚠
- p.Arg944fs Single submitter
- p.Arg948= Single submitter inherited retinal dystrophy
- p.Arg948Cys Single submitter ⚠
- p.Arg948Gly Single submitter ⚠
- p.Arg948His Single submitter ⚠
- p.Asn1078Asp Single submitter ⚠
- p.Asn1078Ile Single submitter ⚠
- p.Asn1078Lys Single submitter ⚠
- p.Asn1080Asp Single submitter ⚠
- p.Asn1128Ile Single submitter ⚠
- p.Asn1149Asp Single submitter ⚠
- p.Asn1204Asp Single submitter ⚠
- p.Asn1213fs Single submitter
- p.Asn1213Ser Single submitter ⚠
- p.Asn1214Thr Single submitter ⚠
- p.Asn1276Ser Single submitter ⚠
- p.Asn1289Ser Single submitter ⚠
- p.Asn1295Lys Single submitter ⚠
- p.Asn1309Ser Single submitter ⚠
- p.Asn145Asp Single submitter ⚠