DHX38 — 892 ClinVar variants
All ClinVar germline DHX38 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 414 flagged for review →
4 Likely pathogenic · 5 Conflicting · 29 Benign · 10 Benign/Likely benign · 388 Likely benign · 456 Uncertain significance
Full DHX38 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 414
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DHX38 p.Ile753Thr
Conflicting
Single submitter
inherited retinal dystrophy
-
DHX38 p.Thr250Ser
Conflicting
Single submitter
inherited retinal dystrophy
Predictors lean, ClinVar uncertain 214
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 214
-
DHX38 p.Ala113Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Ala1169Val Uncertain significance Multiple submitters
-
DHX38 p.Ala403Thr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Ala471Val Uncertain significance Multiple submitters
- DHX38 p.Ala689Val Uncertain significance Multiple submitters
- DHX38 p.Ala739Thr Uncertain significance Multiple submitters
- DHX38 p.Ala848Thr Uncertain significance Multiple submitters
- DHX38 p.Arg1039Gln Uncertain significance Multiple submitters
- DHX38 p.Arg105Gln Uncertain significance Multiple submitters
- DHX38 p.Arg114Gln Uncertain significance Multiple submitters
- DHX38 p.Arg1158Gln Uncertain significance Multiple submitters
-
DHX38 p.Arg1164Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Arg1187Gln Uncertain significance Multiple submitters
- DHX38 p.Arg297Leu Uncertain significance Multiple submitters
- DHX38 p.Arg351Gln Uncertain significance Multiple submitters
- DHX38 p.Arg674Trp Uncertain significance Multiple submitters
-
DHX38 p.Arg707His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Arg799Gln Uncertain significance Multiple submitters
- DHX38 p.Arg834Lys Uncertain significance Multiple submitters
- DHX38 p.Arg853Gln Uncertain significance Multiple submitters
-
DHX38 p.Asp19Asn
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Asp67Asn Uncertain significance Multiple submitters
- DHX38 p.Glu1174Lys Uncertain significance Multiple submitters
- DHX38 p.Glu485Asp Uncertain significance Multiple submitters
- DHX38 p.Glu725Val Uncertain significance Multiple submitters
- DHX38 p.Glu94Gly Uncertain significance Multiple submitters
- DHX38 p.Glu95Asp Uncertain significance Multiple submitters
- DHX38 p.Gly603Glu Uncertain significance Multiple submitters
- DHX38 p.Gly931Arg Uncertain significance Multiple submitters
-
DHX38 p.His202Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa 84
- DHX38 p.His356Tyr Uncertain significance Multiple submitters
- DHX38 p.Ile790Met Uncertain significance Multiple submitters
- DHX38 p.Leu605Pro Uncertain significance Multiple submitters
- DHX38 p.Met1130Thr Uncertain significance Multiple submitters
- DHX38 p.Met924Val Uncertain significance Multiple submitters
- DHX38 p.Pro121Leu Uncertain significance Multiple submitters
- DHX38 p.Pro833Ser Uncertain significance Multiple submitters
- DHX38 p.Ser1061Leu Uncertain significance Multiple submitters
- DHX38 p.Ser262Leu Uncertain significance Multiple submitters
- DHX38 p.Ser286Thr Uncertain significance Multiple submitters
- DHX38 p.Thr1202Met Uncertain significance Multiple submitters
- DHX38 p.Thr860Met Uncertain significance Multiple submitters
- DHX38 p.Val348Met Uncertain significance Multiple submitters
-
DHX38 p.Val554Ala
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Val554Gly Uncertain significance Multiple submitters
- DHX38 p.Val798Ile Uncertain significance Multiple submitters
-
DHX38 p.Ala1002Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
- DHX38 p.Ala1035Ser Uncertain significance Single submitter
- DHX38 p.Ala1171Ser Uncertain significance Single submitter
- DHX38 p.Ala1223Ser Uncertain significance Single submitter
- DHX38 p.Ala146Thr Uncertain significance Single submitter
- DHX38 p.Ala278Thr Uncertain significance Single submitter
- DHX38 p.Ala32Val Uncertain significance Single submitter
- DHX38 p.Ala33Val Uncertain significance Single submitter
- DHX38 p.Ala402Val Uncertain significance Single submitter
- DHX38 p.Ala490Val Uncertain significance Single submitter
- DHX38 p.Ala772Val Uncertain significance Single submitter
- DHX38 p.Ala808Ser Uncertain significance Single submitter
- DHX38 p.Ala892Gly Uncertain significance Single submitter
- DHX38 p.Arg1184Gln Uncertain significance Single submitter
- DHX38 p.Arg1186Gln Uncertain significance Single submitter
- DHX38 p.Arg1200Lys Uncertain significance Single submitter
- DHX38 p.Arg12Gly Uncertain significance Single submitter
- DHX38 p.Arg320Lys Uncertain significance Single submitter
- DHX38 p.Arg324Trp Uncertain significance Single submitter
- DHX38 p.Arg362Cys Uncertain significance Single submitter
- DHX38 p.Arg362His Uncertain significance Single submitter
- DHX38 p.Arg376Cys Uncertain significance Single submitter
- DHX38 p.Arg381Cys Uncertain significance Single submitter
- DHX38 p.Arg390Gln Uncertain significance Single submitter
- DHX38 p.Arg390Trp Uncertain significance Single submitter
- DHX38 p.Arg445Trp Uncertain significance Single submitter
- DHX38 p.Arg460His Uncertain significance Single submitter
- DHX38 p.Arg586Trp Uncertain significance Single submitter
- DHX38 p.Arg59Leu Uncertain significance Single submitter
- DHX38 p.Arg59Trp Uncertain significance Single submitter
- DHX38 p.Arg669Trp Uncertain significance Single submitter
- DHX38 p.Arg799Pro Uncertain significance Single submitter
- DHX38 p.Arg853Trp Uncertain significance Single submitter
- DHX38 p.Arg856Gln Uncertain significance Single submitter
- DHX38 p.Arg990Gln Uncertain significance Single submitter
- DHX38 p.Arg998Gln Uncertain significance Single submitter
- DHX38 p.Asn604Ser Uncertain significance Single submitter
- DHX38 p.Asn806Ser Uncertain significance Single submitter
- DHX38 p.Asp1007Asn Uncertain significance Single submitter
- DHX38 p.Asp1007Tyr Uncertain significance Single submitter
- DHX38 p.Asp1030Asn Uncertain significance Single submitter
-
DHX38 p.Asp1065His
Uncertain significance
Single submitter
retinitis pigmentosa 84
- DHX38 p.Asp161Glu Uncertain significance Single submitter
- DHX38 p.Asp171Gly Uncertain significance Single submitter
- DHX38 p.Asp185His Uncertain significance Single submitter
- DHX38 p.Asp279Gly Uncertain significance Single submitter
- DHX38 p.Asp494Glu Uncertain significance Single submitter
- DHX38 p.Asp677Asn Uncertain significance Single submitter
- DHX38 p.Asp91Gly Uncertain significance Single submitter
- DHX38 p.Cys582Tyr Uncertain significance Single submitter
- DHX38 p.Gln1190Arg Uncertain significance Single submitter
-
DHX38 p.Gln134Arg
Uncertain significance
Single submitter
inherited retinal dystrophy
- DHX38 p.Gln229His Uncertain significance Single submitter
- DHX38 p.Gln313Arg Uncertain significance Single submitter
- DHX38 p.Gln321Lys Uncertain significance Single submitter
- DHX38 p.Gln366Arg Uncertain significance Single submitter
- DHX38 p.Gln369His Uncertain significance Single submitter
- DHX38 p.Gln567His Uncertain significance Single submitter
- DHX38 p.Gln904His Uncertain significance Single submitter
- DHX38 p.Gln99Lys Uncertain significance Single submitter
- DHX38 p.Glu1043Lys Uncertain significance Single submitter
- DHX38 p.Glu1180Gln Uncertain significance Single submitter
- DHX38 p.Glu1211Val Uncertain significance Single submitter
- DHX38 p.Glu150Asp Uncertain significance Single submitter
- DHX38 p.Glu151Gly Uncertain significance Single submitter
- DHX38 p.Glu198Asp Uncertain significance Single submitter
- DHX38 p.Glu276Lys Uncertain significance Single submitter
- DHX38 p.Glu311Gln Uncertain significance Single submitter
- DHX38 p.Glu35Lys Uncertain significance Single submitter
- DHX38 p.Glu375Lys Uncertain significance Single submitter
- DHX38 p.Glu398Gly Uncertain significance Single submitter
- DHX38 p.Glu61Ala Uncertain significance Single submitter
- DHX38 p.Glu762Ala Uncertain significance Single submitter
- DHX38 p.Glu993Lys Uncertain significance Single submitter
- DHX38 p.Gly1086Ala Uncertain significance Single submitter
- DHX38 p.Gly1138Arg Uncertain significance Single submitter
- DHX38 p.Gly1213Arg Uncertain significance Single submitter
- DHX38 p.Gly123Cys Uncertain significance Single submitter
- DHX38 p.Gly221Asp Uncertain significance Single submitter
- DHX38 p.Gly285Trp Uncertain significance Single submitter
- DHX38 p.Gly303Arg Uncertain significance Single submitter
- DHX38 p.Gly332Val Uncertain significance Single submitter
- DHX38 p.Gly555Arg Uncertain significance Single submitter
- DHX38 p.Gly68Ala Uncertain significance Single submitter
- DHX38 p.Gly816Ser Uncertain significance Single submitter
- DHX38 p.Gly858Ser Uncertain significance Single submitter
- DHX38 p.Gly96Ser Uncertain significance Single submitter
- DHX38 p.Gly97Ser Uncertain significance Single submitter
- DHX38 p.His1102Tyr Uncertain significance Single submitter
- DHX38 p.His11Arg Uncertain significance Single submitter
- DHX38 p.His178Arg Uncertain significance Single submitter
- DHX38 p.His202Tyr Uncertain significance Single submitter
- DHX38 p.His356Asn Uncertain significance Single submitter
- DHX38 p.His356Pro Uncertain significance Single submitter
- DHX38 p.Ile1026Val Uncertain significance Single submitter
- DHX38 p.Ile1033Phe Uncertain significance Single submitter
- DHX38 p.Ile1033Val Uncertain significance Single submitter
- DHX38 p.Ile1068Val Uncertain significance Single submitter
- DHX38 p.Ile1204Phe Uncertain significance Single submitter
- DHX38 p.Ile421Val Uncertain significance Single submitter
- DHX38 p.Ile478Thr Uncertain significance Single submitter
- DHX38 p.Ile534Thr Uncertain significance Single submitter
- DHX38 p.Ile545Thr Uncertain significance Single submitter
- DHX38 p.Ile550Val Uncertain significance Single submitter
Predictors split 198
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 198
-
DHX38 p.Ala689Ser
Uncertain significance
Multiple submitters
retinitis pigmentosa 84
-
DHX38 p.Ala770Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Arg1039Trp Uncertain significance Multiple submitters
- DHX38 p.Arg1042Gln Uncertain significance Multiple submitters
-
DHX38 p.Arg1045Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Arg105Trp Uncertain significance Multiple submitters
- DHX38 p.Arg111Trp Uncertain significance Multiple submitters
- DHX38 p.Arg114Trp Uncertain significance Multiple submitters
- DHX38 p.Arg1162Cys Uncertain significance Multiple submitters
-
DHX38 p.Arg1162His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Arg1164Trp Uncertain significance Multiple submitters
- DHX38 p.Arg1186Trp Uncertain significance Multiple submitters
-
DHX38 p.Arg1193His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Arg1209Trp Uncertain significance Multiple submitters
- DHX38 p.Arg1219Cys Uncertain significance Multiple submitters
- DHX38 p.Arg1224His Uncertain significance Multiple submitters
- DHX38 p.Arg133Trp Uncertain significance Multiple submitters
- DHX38 p.Arg160Trp Uncertain significance Multiple submitters
- DHX38 p.Arg247Trp Uncertain significance Multiple submitters
- DHX38 p.Arg294Gln Uncertain significance Multiple submitters
- DHX38 p.Arg297His Uncertain significance Multiple submitters
- DHX38 p.Arg312Trp Uncertain significance Multiple submitters
- DHX38 p.Arg367Trp Uncertain significance Multiple submitters
- DHX38 p.Arg59Gln Uncertain significance Multiple submitters
-
DHX38 p.Arg944Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa 84
- DHX38 p.Asn371Ser Uncertain significance Multiple submitters
- DHX38 p.Asn832Ser Uncertain significance Multiple submitters
- DHX38 p.Asp1065Asn Uncertain significance Multiple submitters
-
DHX38 p.Asp163Tyr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Asp280Asn Uncertain significance Multiple submitters
- DHX38 p.Asp323Asn Uncertain significance Multiple submitters
-
DHX38 p.Glu198Lys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Glu301Lys Likely benign Multiple submitters
- DHX38 p.Gly738Glu Uncertain significance Multiple submitters
- DHX38 p.His465Asn Uncertain significance Multiple submitters
- DHX38 p.Ile701Val Uncertain significance Multiple submitters
- DHX38 p.Lys75Thr Uncertain significance Multiple submitters
- DHX38 p.Met965Val Uncertain significance Multiple submitters
- DHX38 p.Phe336Leu Uncertain significance Multiple submitters
-
DHX38 p.Pro235Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DHX38 p.Pro237Leu Uncertain significance Multiple submitters
- DHX38 p.Pro288Leu Uncertain significance Multiple submitters
- DHX38 p.Ser232Leu Uncertain significance Multiple submitters
- DHX38 p.Ser737Leu Uncertain significance Multiple submitters
- DHX38 p.Ser969Phe Benign Multiple submitters
- DHX38 p.Thr1221Met Likely benign Multiple submitters
-
DHX38 p.Thr308Met
Uncertain significance
Multiple submitters
retinitis pigmentosa 84
- DHX38 p.Thr492Met Benign/Likely benign Multiple submitters
- DHX38 p.Thr575Met Uncertain significance Multiple submitters
-
DHX38 p.Tyr239Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa 84
- DHX38 p.Tyr239Phe Uncertain significance Multiple submitters
- DHX38 p.Ala1135Thr Uncertain significance Single submitter
- DHX38 p.Ala1142Val Uncertain significance Single submitter
- DHX38 p.Ala1154Val Uncertain significance Single submitter
- DHX38 p.Ala1177Val Uncertain significance Single submitter
- DHX38 p.Ala506Thr Uncertain significance Single submitter
- DHX38 p.Ala506Val Uncertain significance Single submitter
- DHX38 p.Ala770Thr Uncertain significance Single submitter
- DHX38 p.Ala873Ser Uncertain significance Single submitter
- DHX38 p.Arg1070Lys Uncertain significance Single submitter
- DHX38 p.Arg111Gln Uncertain significance Single submitter
- DHX38 p.Arg1158Trp Uncertain significance Single submitter
- DHX38 p.Arg1163Cys Uncertain significance Single submitter
- DHX38 p.Arg1163His Uncertain significance Single submitter
- DHX38 p.Arg1187Gly Uncertain significance Single submitter
- DHX38 p.Arg1187Trp Uncertain significance Single submitter
- DHX38 p.Arg1193Cys Uncertain significance Single submitter
- DHX38 p.Arg1219Gly Uncertain significance Single submitter
- DHX38 p.Arg1219His Uncertain significance Single submitter
- DHX38 p.Arg1219Pro Uncertain significance Single submitter
- DHX38 p.Arg1220His Uncertain significance Single submitter
- DHX38 p.Arg133Gln Uncertain significance Single submitter
- DHX38 p.Arg137Trp Likely benign Single submitter
- DHX38 p.Arg139Gln Uncertain significance Single submitter
- DHX38 p.Arg139Trp Uncertain significance Single submitter
- DHX38 p.Arg140Gln Uncertain significance Single submitter
- DHX38 p.Arg140Trp Uncertain significance Single submitter
- DHX38 p.Arg166Cys Uncertain significance Single submitter
- DHX38 p.Arg166His Uncertain significance Single submitter
- DHX38 p.Arg168Lys Uncertain significance Single submitter
- DHX38 p.Arg173Gln Uncertain significance Single submitter
- DHX38 p.Arg184Gly Uncertain significance Single submitter
- DHX38 p.Arg190His Uncertain significance Single submitter
-
DHX38 p.Arg194Gly
Uncertain significance
Single submitter
inherited retinal dystrophy
- DHX38 p.Arg201Gln Uncertain significance Single submitter
- DHX38 p.Arg212Met Uncertain significance Single submitter
- DHX38 p.Arg227Cys Uncertain significance Single submitter
- DHX38 p.Arg227His Uncertain significance Single submitter
- DHX38 p.Arg240Gln Uncertain significance Single submitter
- DHX38 p.Arg251Gln Uncertain significance Single submitter
- DHX38 p.Arg253Gln Uncertain significance Single submitter
-
DHX38 p.Arg289His
Conflicting
Single submitter
inherited retinal dystrophy
-
DHX38 p.Arg297Cys
Uncertain significance
Single submitter
retinitis pigmentosa 84
- DHX38 p.Arg312Gln Uncertain significance Single submitter
-
DHX38 p.Arg324Gln
Likely pathogenic
Single submitter
retinitis pigmentosa 84
- DHX38 p.Arg324Gly Uncertain significance Single submitter
- DHX38 p.Arg350Gly Uncertain significance Single submitter
- DHX38 p.Arg362Leu Uncertain significance Single submitter
- DHX38 p.Arg376His Uncertain significance Single submitter
- DHX38 p.Arg376Leu Uncertain significance Single submitter
- DHX38 p.Arg445Gln Uncertain significance Single submitter
- DHX38 p.Arg452Gln Uncertain significance Single submitter
- DHX38 p.Arg45Cys Uncertain significance Single submitter
- DHX38 p.Arg45His Uncertain significance Single submitter
- DHX38 p.Arg500Gly Uncertain significance Single submitter
- DHX38 p.Asn1092Ser Uncertain significance Single submitter
- DHX38 p.Asn338Ser Uncertain significance Single submitter
- DHX38 p.Asn411Ser Uncertain significance Single submitter
- DHX38 p.Asp1030His Uncertain significance Single submitter
- DHX38 p.Asp107Val Uncertain significance Single submitter
- DHX38 p.Asp161Asn Uncertain significance Single submitter
- DHX38 p.Asp165Gly Uncertain significance Single submitter
- DHX38 p.Asp185Asn Uncertain significance Single submitter
- DHX38 p.Asp252Gly Uncertain significance Single submitter
- DHX38 p.Asp264Gly Uncertain significance Single submitter
- DHX38 p.Asp317Val Uncertain significance Single submitter
- DHX38 p.Asp346Asn Uncertain significance Single submitter
- DHX38 p.Asp439Glu Uncertain significance Single submitter
- DHX38 p.Asp494Ala Likely benign Single submitter
- DHX38 p.Asp712Asn Uncertain significance Single submitter
- DHX38 p.Gln1182His Uncertain significance Single submitter
- DHX38 p.Gln134His Uncertain significance Single submitter
- DHX38 p.Gln449Glu Uncertain significance Single submitter
- DHX38 p.Gln530His Uncertain significance Single submitter
- DHX38 p.Gln733His Uncertain significance Single submitter
- DHX38 p.Gln847Arg Uncertain significance Single submitter
- DHX38 p.Glu1175Lys Uncertain significance Single submitter
- DHX38 p.Glu136Gly Uncertain significance Single submitter
- DHX38 p.Glu299Lys Uncertain significance Single submitter
- DHX38 p.Glu345Lys Uncertain significance Single submitter
- DHX38 p.Glu392Gln Uncertain significance Single submitter
- DHX38 p.Glu607Lys Uncertain significance Single submitter
- DHX38 p.Glu690Asp Uncertain significance Single submitter
- DHX38 p.Gly1155Asp Uncertain significance Single submitter
- DHX38 p.Gly23Ala Uncertain significance Single submitter
- DHX38 p.Gly23Ser Uncertain significance Single submitter
-
DHX38 p.Gly332Asp
Uncertain significance
Single submitter
retinitis pigmentosa 84
- DHX38 p.Gly50Arg Uncertain significance Single submitter
- DHX38 p.Gly966Asp Uncertain significance Single submitter
- DHX38 p.His1079Tyr Uncertain significance Single submitter
- DHX38 p.His508Gln Uncertain significance Single submitter
-
DHX38 p.His703Pro
Uncertain significance
Single submitter
retinitis pigmentosa 84
- DHX38 p.Ile304Thr Uncertain significance Single submitter
- DHX38 p.Ile421Thr Uncertain significance Single submitter
- DHX38 p.Ile443Thr Uncertain significance Single submitter
- DHX38 p.Ile478Met Uncertain significance Single submitter
- DHX38 p.Ile625Leu Uncertain significance Single submitter
- DHX38 p.Ile650Met Uncertain significance Single submitter
- DHX38 p.Leu49Arg Uncertain significance Single submitter
- DHX38 p.Leu764Val Uncertain significance Single submitter
All DHX38 variants
Likely pathogenic 4
- p.Arg201Ter Single submitter inherited retinal dystrophy
- p.Arg324Gln Single submitter retinitis pigmentosa 84 ⚠
- p.Tyr627Asn Single submitter inherited retinal dystrophy
- p.Pro777Ser No assertion criteria retinitis pigmentosa
Conflicting classifications of pathogenicity 5
- p.Arg289His Single submitter inherited retinal dystrophy ⚠
- p.Ile753Thr Single submitter inherited retinal dystrophy ⚠
- p.Leu1178= Single submitter inherited retinal dystrophy
- p.Ser1061= Single submitter inherited retinal dystrophy
- p.Thr250Ser Single submitter inherited retinal dystrophy ⚠
Benign 29
- c.2380-20T>C Multiple submitters retinitis pigmentosa 84
- c.2487+14T>C Multiple submitters retinitis pigmentosa 84
- c.2965-15T>G Multiple submitters
- c.3477+5G>A Multiple submitters
- c.511+12A>G Multiple submitters
- p.Ala436= Multiple submitters retinitis pigmentosa 84
- p.Ala772= Multiple submitters retinitis pigmentosa 84
- p.Arg1158= Multiple submitters
- p.Arg140= Multiple submitters retinitis pigmentosa 84
- p.Gln908= Multiple submitters
- p.Gly23= Multiple submitters inherited retinal dystrophy
- p.Ile983Val Multiple submitters
- p.Leu49= Multiple submitters retinitis pigmentosa 84
- p.Lys28= Multiple submitters
- p.Ser969Phe Multiple submitters ⚠
- p.Thr16Ser Multiple submitters
- p.Thr265= Multiple submitters
- p.Thr566= Multiple submitters retinitis pigmentosa 84
- c.1387-8C>A Single submitter
- c.2011-5C>T Single submitter
- c.2809+14G>A Single submitter
- c.3121-14G>A Single submitter
- c.511+11C>T Single submitter
- p.Arg657= Single submitter
- p.Arg675= Single submitter
- p.Asn1029= Single submitter
- p.Glu768= Single submitter
- p.Gly303Glu Single submitter
- p.Ser737= Single submitter
Benign/Likely benign 10
- c.1116+3G>A Multiple submitters
- c.1386+17C>T Multiple submitters retinitis pigmentosa 84
- c.1499+9C>T Multiple submitters
- p.Ala1179= Multiple submitters inherited retinal dystrophy
- p.Ala689= Multiple submitters
- p.Gly606= Multiple submitters inherited retinal dystrophy
- p.Pro427= Multiple submitters inherited retinal dystrophy
- p.Thr492Met Multiple submitters ⚠
- p.Val257= Multiple submitters
- p.Val348= Multiple submitters inherited retinal dystrophy
Likely benign 388
Showing the top 300 by review status; the full set is in the sitemap.
- c.616+8C>T Multiple submitters
- p.Ala471= Multiple submitters inherited retinal dystrophy
- p.Ala857= Multiple submitters
- p.Asn374= Multiple submitters inherited retinal dystrophy
- p.Asp334= Multiple submitters inherited retinal dystrophy
- p.Asp346= Multiple submitters inherited retinal dystrophy
- p.Asp630= Multiple submitters inherited retinal dystrophy
- p.Asp652= Multiple submitters inherited retinal dystrophy
- p.Asp66= Multiple submitters inherited retinal dystrophy
- p.Glu1121= Multiple submitters
- p.Glu141Asp Multiple submitters inherited retinal dystrophy
- p.Glu301Lys Multiple submitters ⚠
- p.Ile550= Multiple submitters
- p.Ile960= Multiple submitters inherited retinal dystrophy
- p.Pro1098= Multiple submitters inherited retinal dystrophy
- p.Pro197= Multiple submitters inherited retinal dystrophy
- p.Ser1150= Multiple submitters
- p.Ser125= Multiple submitters inherited retinal dystrophy
- p.Ser232= Multiple submitters inherited retinal dystrophy
- p.Thr1221Met Multiple submitters ⚠
- c.1116+13G>A Single submitter
- c.1117-20C>G Single submitter
- c.1117-7C>T Single submitter
- c.1278+17G>A Single submitter
- c.1279-10A>G Single submitter
- c.1279-18T>C Single submitter
- c.1279-19T>C Single submitter
- c.1279-4G>A Single submitter
- c.1386+13G>C Single submitter
- c.1386+18G>A Single submitter
- c.1386+19T>A Single submitter
- c.1387-4T>A Single submitter
- c.1499+14G>C Single submitter
- c.1499+19C>T Single submitter
- c.1500-13TG[2] Single submitter
- c.1500-5C>G Single submitter
- c.1637+12C>T Single submitter
- c.1637+13G>A Single submitter
- c.1638-4G>A Single submitter
- c.1638-5T>C Single submitter
- c.1638-8C>G Single submitter
- c.1824+11G>A Single submitter
- c.1824+11G>C Single submitter
- c.1825-10T>G Single submitter
- c.1825-13C>G Single submitter
- c.1825-15C>T Single submitter
- c.1825-4C>G Single submitter
- c.1825-4C>T Single submitter
- c.1825-5T>A Single submitter
- c.1825-9G>C Single submitter
- c.2010+11T>C Single submitter
- c.2010+12G>A Single submitter
- c.2010+16T>G Single submitter
- c.2011-10C>A Single submitter
- c.2011-14G>A Single submitter
- c.2011-15C>T Single submitter
- c.2011-19G>A Single submitter
- c.2011-20C>G Single submitter
- c.2011-20C>T Single submitter
- c.2011-4T>C Single submitter
- c.2011-6del Single submitter
- c.2151+15A>G Single submitter
- c.2151+16T>C Single submitter
- c.2152-12C>T Single submitter
- c.2152-17C>A Single submitter
- c.2152-17C>G Single submitter
- c.2262+11T>C Single submitter
- c.2262+17C>T Single submitter
- c.2262+18G>A Single submitter
- c.2262+18G>T Single submitter
- c.2262+20C>T Single submitter
- c.2263-11T>G Single submitter
- c.2263-20_2263-15del Single submitter
- c.2379+17G>A Single submitter
- c.2379+20C>G Single submitter
- c.2380-13T>C Single submitter
- c.2380-14A>G Single submitter
- c.2380-17T>C Single submitter
- c.2380-4C>G Single submitter
- c.2380-6C>T Single submitter
- c.2380-7G>C Single submitter
- c.2487+13_2487+14delinsGC Single submitter
- c.2487+19G>T Single submitter
- c.2487+9del Single submitter
- c.2488-12G>A Single submitter
- c.2488-13C>T Single submitter
- c.2488-14C>G Single submitter
- c.2488-19C>T Single submitter
- c.2488-5C>G Single submitter
- c.2488-7C>G Single submitter
- c.2488-7C>T Single submitter
- c.2600+15C>T Single submitter
- c.2600+19C>G Single submitter
- c.2601-11C>G Single submitter
- c.2601-16G>A Single submitter
- c.2601-16G>C Single submitter
- c.2601-17G>C Single submitter
- c.2601-6C>T Single submitter
- c.2601-9C>T Single submitter
- c.2809+12C>T Single submitter
- c.2809+13C>G Single submitter
- c.2809+13C>T Single submitter
- c.2809+14G>T Single submitter
- c.2809+19C>T Single submitter
- c.2809+7C>T Single submitter
- c.2810-11A>G Single submitter
- c.2810-13T>G Single submitter
- c.2810-8T>C Single submitter
- c.2964+10C>T Single submitter
- c.2964+11G>A Single submitter
- c.2964+12G>T Single submitter
- c.2964+16G>C Single submitter
- c.2965-19G>T Single submitter
- c.2965-5C>A Single submitter
- c.3120+8G>C Single submitter
- c.3121-11_3121-10del Single submitter
- c.3121-15C>T Single submitter
- c.3121-4C>G Single submitter
- c.3121-4C>T Single submitter
- c.3121-6C>T Single submitter
- c.323+13G>T Single submitter
- c.323+9C>G Single submitter
- c.323+9C>T Single submitter
- c.324-9_324-8del Single submitter
- c.3382-10C>G Single submitter
- c.3382-20C>T Single submitter
- c.3382-4G>A Single submitter
- c.3382-5C>T Single submitter
- c.3477+13T>C Single submitter
- c.3477+16T>C Single submitter
- c.3477+17C>T Single submitter
- c.3477+20C>T Single submitter
- c.3478-10T>C Single submitter
- c.3478-11C>T Single submitter
- c.3478-15G>T Single submitter
- c.3478-6C>G Single submitter
- c.3599+10G>A Single submitter
- c.3599+11G>A Single submitter
- c.3599+16C>T Single submitter
- c.3599+9C>T Single submitter
- c.3600-10G>C Single submitter
- c.3600-16C>T Single submitter
- c.3600-18C>T Single submitter
- c.3600-20C>G Single submitter
- c.511+17A>C Single submitter
- c.512-14G>A Single submitter
- c.512-16G>A Single submitter
- c.616+12G>C Single submitter
- c.616+18G>A Single submitter
- c.617-10T>C Single submitter
- c.617-16G>C Single submitter
- c.764+10T>G Single submitter
- c.764+12G>C Single submitter
- c.764+18G>T Single submitter
- c.883+10G>A Single submitter
- c.883+10G>T Single submitter
- c.883+15del Single submitter
- c.884-14del Single submitter
- c.884-15C>G Single submitter
- c.884-17T>C Single submitter
- c.960+13A>G Single submitter
- c.960+15C>T Single submitter
- p.Ala1076= Single submitter
- p.Ala1081= Single submitter
- p.Ala1082= Single submitter
- p.Ala113= Single submitter
- p.Ala1154= Single submitter
- p.Ala1177= Single submitter
- p.Ala278= Single submitter
- p.Ala32= Single submitter
- p.Ala322= Single submitter
- p.Ala341= Single submitter
- p.Ala41= Single submitter
- p.Ala43= Single submitter
- p.Ala444= Single submitter
- p.Ala55= Single submitter
- p.Ala594= Single submitter
- p.Ala641= Single submitter
- p.Ala648= Single submitter
- p.Ala694= Single submitter
- p.Ala739= Single submitter
- p.Ala770= Single submitter
- p.Ala774= Single submitter
- p.Ala788= Single submitter
- p.Ala808= Single submitter
- p.Arg1039= Single submitter
- p.Arg105= Single submitter
- p.Arg1056= Single submitter
- p.Arg1187= Single submitter
- p.Arg1209= Single submitter
- p.Arg1224= Single submitter
- p.Arg131= Single submitter
- p.Arg137Trp Single submitter ⚠
- p.Arg166= Single submitter
- p.Arg292= Single submitter
- p.Arg350= Single submitter
- p.Arg445= Single submitter
- p.Arg45= Single submitter
- p.Arg452= Single submitter
- p.Arg511= Single submitter
- p.Arg511Ser Single submitter
- p.Arg59= Single submitter
- p.Arg60= Single submitter
- p.Arg674= Single submitter
- p.Arg853= Single submitter
- p.Asn275= Single submitter
- p.Asn401= Single submitter
- p.Asn660= Single submitter
- p.Asn769= Single submitter
- p.Asn893= Single submitter
- p.Asn935= Single submitter
- p.Asp1067= Single submitter
- p.Asp1137= Single submitter
- p.Asp153= Single submitter
- p.Asp165= Single submitter
- p.Asp330= Single submitter
- p.Asp494Ala Single submitter ⚠
- p.Asp662= Single submitter
- p.Asp815= Single submitter
- p.Asp87= Single submitter
- p.Asp934= Single submitter
- p.Cys1072= Single submitter
- p.Cys618= Single submitter
- p.Gln1017= Single submitter
- p.Gln229= Single submitter
- p.Gln528= Single submitter
- p.Gln530= Single submitter
- p.Gln567= Single submitter
- p.Gln584= Single submitter
- p.Gln926= Single submitter
- p.Glu1089= Single submitter
- p.Glu1167= Single submitter
- p.Glu1180= Single submitter
- p.Glu1214= Single submitter
- p.Glu141= Single submitter
- p.Glu151= Single submitter
- p.Glu189= Single submitter
- p.Glu196= Single submitter
- p.Glu218= Single submitter
- p.Glu335= Single submitter
- p.Glu375= Single submitter
- p.Glu399= Single submitter
- p.Glu428= Single submitter
- p.Glu556= Single submitter
- p.Glu656= Single submitter
- p.Glu751= Single submitter
- p.Glu83= Single submitter
- p.Glu991= Single submitter
- p.Gly1063= Single submitter
- p.Gly1086= Single submitter
- p.Gly1096= Single submitter
- p.Gly1208= Single submitter
- p.Gly1226= Single submitter
- p.Gly143= Single submitter
- p.Gly2= Single submitter
- p.Gly300= Single submitter
- p.Gly332= Single submitter
- p.Gly447= Single submitter
- p.Gly480= Single submitter
- p.Gly631= Single submitter
- p.Gly68= Single submitter
- p.Gly697= Single submitter
- p.Gly797= Single submitter
- p.Gly96= Single submitter
- p.His1008= Single submitter
- p.His1034= Single submitter
- p.His1102= Single submitter
- p.His1120= Single submitter
- p.His120= Single submitter
- p.His389Arg Single submitter
- p.His570= Single submitter
- p.His703= Single submitter
- p.Ile1068= Single submitter
- p.Ile1087= Single submitter
- p.Ile552= Single submitter
- p.Ile681= Single submitter
- p.Ile713= Single submitter
- p.Ile743= Single submitter
- p.Ile802= Single submitter
- p.Ile821= Single submitter
- p.Ile886= Single submitter
- p.Leu1122= Single submitter
- p.Leu1196= Single submitter
- p.Leu13= Single submitter
- p.Leu248Pro Single submitter
- p.Leu290= Single submitter
- p.Leu383= Single submitter
- p.Leu475= Single submitter
- p.Leu51= Single submitter
- p.Leu569= Single submitter
- p.Leu57= Single submitter
- p.Leu680= Single submitter
- p.Leu736= Single submitter
- p.Leu776= Single submitter
- p.Leu840= Single submitter
- p.Leu878= Single submitter
- p.Leu898= Single submitter
- p.Leu901= Single submitter
- p.Leu907= Single submitter
- p.Leu930= Single submitter
Uncertain significance 456
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala113Val Multiple submitters inherited retinal dystrophy ⚠
- p.Ala1169Val Multiple submitters ⚠
- p.Ala403Thr Multiple submitters inherited retinal dystrophy ⚠
- p.Ala471Val Multiple submitters ⚠
- p.Ala689Ser Multiple submitters retinitis pigmentosa 84 ⚠
- p.Ala689Val Multiple submitters ⚠
- p.Ala739Thr Multiple submitters ⚠
- p.Ala770Val Multiple submitters inherited retinal dystrophy ⚠
- p.Ala848Thr Multiple submitters ⚠
- p.Arg1039Gln Multiple submitters ⚠
- p.Arg1039Trp Multiple submitters ⚠
- p.Arg1042Gln Multiple submitters ⚠
- p.Arg1045Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg105Gln Multiple submitters ⚠
- p.Arg105Trp Multiple submitters ⚠
- p.Arg111Trp Multiple submitters ⚠
- p.Arg114Gln Multiple submitters ⚠
- p.Arg114Trp Multiple submitters ⚠
- p.Arg1158Gln Multiple submitters ⚠
- p.Arg1162Cys Multiple submitters ⚠
- p.Arg1162His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg1164Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg1164Trp Multiple submitters ⚠
- p.Arg1186Trp Multiple submitters ⚠
- p.Arg1187Gln Multiple submitters ⚠
- p.Arg1193His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg1209Trp Multiple submitters ⚠
- p.Arg1219Cys Multiple submitters ⚠
- p.Arg1224His Multiple submitters ⚠
- p.Arg133Trp Multiple submitters ⚠
- p.Arg160Trp Multiple submitters ⚠
- p.Arg247Trp Multiple submitters ⚠
- p.Arg294Gln Multiple submitters ⚠
- p.Arg297His Multiple submitters ⚠
- p.Arg297Leu Multiple submitters ⚠
- p.Arg312Trp Multiple submitters ⚠
- p.Arg351Gln Multiple submitters ⚠
- p.Arg367Trp Multiple submitters ⚠
- p.Arg59Gln Multiple submitters ⚠
- p.Arg674Trp Multiple submitters ⚠
- p.Arg707His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg799Gln Multiple submitters ⚠
- p.Arg834Lys Multiple submitters ⚠
- p.Arg853Gln Multiple submitters ⚠
- p.Arg944Gln Multiple submitters retinitis pigmentosa 84 ⚠
- p.Asn371Ser Multiple submitters ⚠
- p.Asn832Ser Multiple submitters ⚠
- p.Asp1065Asn Multiple submitters ⚠
- p.Asp163Tyr Multiple submitters inherited retinal dystrophy ⚠
- p.Asp19Asn Multiple submitters inherited retinal dystrophy ⚠
- p.Asp280Asn Multiple submitters ⚠
- p.Asp323Asn Multiple submitters ⚠
- p.Asp67Asn Multiple submitters ⚠
- p.Glu1174Lys Multiple submitters ⚠
- p.Glu198Lys Multiple submitters inherited retinal dystrophy ⚠
- p.Glu485Asp Multiple submitters ⚠
- p.Glu725Val Multiple submitters ⚠
- p.Glu94Gly Multiple submitters ⚠
- p.Glu95Asp Multiple submitters ⚠
- p.Gly603Glu Multiple submitters ⚠
- p.Gly738Glu Multiple submitters ⚠
- p.Gly931Arg Multiple submitters ⚠
- p.His202Arg Multiple submitters retinitis pigmentosa 84 ⚠
- p.His356Tyr Multiple submitters ⚠
- p.His465Asn Multiple submitters ⚠
- p.Ile701Val Multiple submitters ⚠
- p.Ile790Met Multiple submitters ⚠
- p.Leu605Pro Multiple submitters ⚠
- p.Lys75Thr Multiple submitters ⚠
- p.Met1130Thr Multiple submitters ⚠
- p.Met924Val Multiple submitters ⚠
- p.Met965Val Multiple submitters ⚠
- p.Phe336Leu Multiple submitters ⚠
- p.Pro121Leu Multiple submitters ⚠
- p.Pro235Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Pro237Leu Multiple submitters ⚠
- p.Pro288Leu Multiple submitters ⚠
- p.Pro833Ser Multiple submitters ⚠
- p.Ser1061Leu Multiple submitters ⚠
- p.Ser232Leu Multiple submitters ⚠
- p.Ser262Leu Multiple submitters ⚠
- p.Ser286Thr Multiple submitters ⚠
- p.Ser737Leu Multiple submitters ⚠
- p.Thr1202Met Multiple submitters ⚠
- p.Thr308Met Multiple submitters retinitis pigmentosa 84 ⚠
- p.Thr575Met Multiple submitters ⚠
- p.Thr860Met Multiple submitters ⚠
- p.Tyr239Cys Multiple submitters retinitis pigmentosa 84 ⚠
- p.Tyr239Phe Multiple submitters ⚠
- p.Val348Met Multiple submitters ⚠
- p.Val554Ala Multiple submitters inherited retinal dystrophy ⚠
- p.Val554Gly Multiple submitters ⚠
- p.Val798Ile Multiple submitters ⚠
- c.1278+4A>G Single submitter
- c.1386+5G>C Single submitter
- c.1499+6C>T Single submitter
- c.1824+5G>A Single submitter
- c.2011-3C>A Single submitter inherited retinal dystrophy
- c.2262+1G>A Single submitter
- c.2262+3G>C Single submitter
- c.2262+4C>G Single submitter
- c.2262+4C>T Single submitter
- c.2262+5G>A Single submitter
- c.2263-3C>T Single submitter
- c.2380-2A>G Single submitter
- c.2601-5G>A Single submitter
- c.2964+3G>A Single submitter
- c.3381+4A>C Single submitter
- c.3382-15C>G Single submitter
- c.3382-3C>T Single submitter
- c.3477+1G>T Single submitter
- c.3599+6C>T Single submitter
- c.3600-3C>A Single submitter
- c.511+6C>G Single submitter
- c.616+3A>G Single submitter
- c.764+2T>G Single submitter
- c.764+3G>A Single submitter
- c.764+6G>A Single submitter
- p.Ala1002Thr Single submitter inherited retinal dystrophy ⚠
- p.Ala1035Ser Single submitter ⚠
- p.Ala1135Thr Single submitter ⚠
- p.Ala1142Val Single submitter ⚠
- p.Ala1154Val Single submitter ⚠
- p.Ala1171Ser Single submitter ⚠
- p.Ala1177Val Single submitter ⚠
- p.Ala1223Ser Single submitter ⚠
- p.Ala146Thr Single submitter ⚠
- p.Ala278fs Single submitter
- p.Ala278Thr Single submitter ⚠
- p.Ala32Val Single submitter ⚠
- p.Ala33Val Single submitter ⚠
- p.Ala402Val Single submitter ⚠
- p.Ala490Val Single submitter ⚠
- p.Ala506Thr Single submitter ⚠
- p.Ala506Val Single submitter ⚠
- p.Ala770Thr Single submitter ⚠
- p.Ala772Val Single submitter ⚠
- p.Ala808Ser Single submitter ⚠
- p.Ala873Ser Single submitter ⚠
- p.Ala892Gly Single submitter ⚠
- p.Arg1070Lys Single submitter ⚠
- p.Arg108= Single submitter inherited retinal dystrophy
- p.Arg111Gln Single submitter ⚠
- p.Arg1158Trp Single submitter ⚠
- p.Arg1163Cys Single submitter ⚠
- p.Arg1163His Single submitter ⚠
- p.Arg1184Gln Single submitter ⚠
- p.Arg1184Ter Single submitter inherited retinal dystrophy
- p.Arg1186Gln Single submitter ⚠
- p.Arg1187Gly Single submitter ⚠
- p.Arg1187Trp Single submitter ⚠
- p.Arg1193Cys Single submitter ⚠
- p.Arg1200Lys Single submitter ⚠
- p.Arg1219Gly Single submitter ⚠
- p.Arg1219His Single submitter ⚠
- p.Arg1219Pro Single submitter ⚠
- p.Arg1220His Single submitter ⚠
- p.Arg12Gly Single submitter ⚠
- p.Arg12Ter Single submitter
- p.Arg133Gln Single submitter ⚠
- p.Arg139Gln Single submitter ⚠
- p.Arg139Trp Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg140Trp Single submitter ⚠
- p.Arg162Ter Single submitter
- p.Arg166Cys Single submitter ⚠
- p.Arg166His Single submitter ⚠
- p.Arg168Lys Single submitter ⚠
- p.Arg173Gln Single submitter ⚠
- p.Arg184Gly Single submitter ⚠
- p.Arg190His Single submitter ⚠
- p.Arg194delinsAlaTer Single submitter
- p.Arg194Gly Single submitter inherited retinal dystrophy ⚠
- p.Arg201Gln Single submitter ⚠
- p.Arg203Ter Single submitter
- p.Arg212Met Single submitter ⚠
- p.Arg227Cys Single submitter ⚠
- p.Arg227His Single submitter ⚠
- p.Arg240Gln Single submitter ⚠
- p.Arg251Gln Single submitter ⚠
- p.Arg253Gln Single submitter ⚠
- p.Arg294Ter Single submitter
- p.Arg297Cys Single submitter retinitis pigmentosa 84 ⚠
- p.Arg312Gln Single submitter ⚠
- p.Arg320Lys Single submitter ⚠
- p.Arg324Gly Single submitter ⚠
- p.Arg324Trp Single submitter ⚠
- p.Arg350Gly Single submitter ⚠
- p.Arg362Cys Single submitter ⚠
- p.Arg362His Single submitter ⚠
- p.Arg362Leu Single submitter ⚠
- p.Arg376Cys Single submitter ⚠
- p.Arg376His Single submitter ⚠
- p.Arg376Leu Single submitter ⚠
- p.Arg381Cys Single submitter ⚠
- p.Arg390Gln Single submitter ⚠
- p.Arg390Trp Single submitter ⚠
- p.Arg445Gln Single submitter ⚠
- p.Arg445Trp Single submitter ⚠
- p.Arg452Gln Single submitter ⚠
- p.Arg45Cys Single submitter ⚠
- p.Arg45His Single submitter ⚠
- p.Arg460His Single submitter ⚠
- p.Arg500Gly Single submitter ⚠
- p.Arg586Trp Single submitter ⚠
- p.Arg59Leu Single submitter ⚠
- p.Arg59Trp Single submitter ⚠
- p.Arg669Trp Single submitter ⚠
- p.Arg799Pro Single submitter ⚠
- p.Arg853Trp Single submitter ⚠
- p.Arg856Gln Single submitter ⚠
- p.Arg990Gln Single submitter ⚠
- p.Arg998Gln Single submitter ⚠
- p.Asn1092Ser Single submitter ⚠
- p.Asn338Ser Single submitter ⚠
- p.Asn411Ser Single submitter ⚠
- p.Asn604Ser Single submitter ⚠
- p.Asn806Ser Single submitter ⚠
- p.Asp1007Asn Single submitter ⚠
- p.Asp1007Tyr Single submitter ⚠
- p.Asp1030Asn Single submitter ⚠
- p.Asp1030His Single submitter ⚠
- p.Asp1065His Single submitter retinitis pigmentosa 84 ⚠
- p.Asp107Val Single submitter ⚠
- p.Asp161Asn Single submitter ⚠
- p.Asp161Glu Single submitter ⚠
- p.Asp165Gly Single submitter ⚠
- p.Asp171Gly Single submitter ⚠
- p.Asp185Asn Single submitter ⚠
- p.Asp185His Single submitter ⚠
- p.Asp252Gly Single submitter ⚠
- p.Asp264Gly Single submitter ⚠
- p.Asp279Gly Single submitter ⚠
- p.Asp317Val Single submitter ⚠
- p.Asp346Asn Single submitter ⚠
- p.Asp439Glu Single submitter ⚠
- p.Asp494Glu Single submitter ⚠
- p.Asp677Asn Single submitter ⚠
- p.Asp712Asn Single submitter ⚠
- p.Asp91Gly Single submitter ⚠
- p.Cys582Tyr Single submitter ⚠
- p.Gln1017Ter Single submitter
- p.Gln1182His Single submitter ⚠
- p.Gln1190Arg Single submitter ⚠
- p.Gln134Arg Single submitter inherited retinal dystrophy ⚠
- p.Gln134His Single submitter ⚠
- p.Gln229His Single submitter ⚠
- p.Gln313Arg Single submitter ⚠
- p.Gln321Lys Single submitter ⚠
- p.Gln366Arg Single submitter ⚠
- p.Gln366Ter Single submitter
- p.Gln369His Single submitter ⚠
- p.Gln449Glu Single submitter ⚠
- p.Gln528Ter Single submitter
- p.Gln530His Single submitter ⚠
- p.Gln567His Single submitter ⚠
- p.Gln733His Single submitter ⚠
- p.Gln847Arg Single submitter ⚠
- p.Gln904His Single submitter ⚠
- p.Gln99Lys Single submitter ⚠
- p.Glu1043Lys Single submitter ⚠
- p.Glu1175Lys Single submitter ⚠
- p.Glu1180Gln Single submitter ⚠
- p.Glu1211Val Single submitter ⚠
- p.Glu136Gly Single submitter ⚠
- p.Glu150Asp Single submitter ⚠
- p.Glu151Gly Single submitter ⚠
- p.Glu198Asp Single submitter ⚠
- p.Glu276Lys Single submitter ⚠
- p.Glu299Lys Single submitter ⚠
- p.Glu311del Single submitter
- p.Glu311Gln Single submitter ⚠
- p.Glu345Lys Single submitter ⚠
- p.Glu352Ter Single submitter
- p.Glu35Lys Single submitter ⚠
- p.Glu375Lys Single submitter ⚠
- p.Glu392Gln Single submitter ⚠
- p.Glu398Gly Single submitter ⚠
- p.Glu540= Single submitter inherited retinal dystrophy
- p.Glu607Lys Single submitter ⚠
- p.Glu61Ala Single submitter ⚠
- p.Glu690Asp Single submitter ⚠
- p.Glu762Ala Single submitter ⚠
- p.Glu993Lys Single submitter ⚠
- p.Gly1086Ala Single submitter ⚠
- p.Gly1138Arg Single submitter ⚠
- p.Gly1155Asp Single submitter ⚠
- p.Gly1213Arg Single submitter ⚠
- p.Gly123Cys Single submitter ⚠
- p.Gly221Asp Single submitter ⚠
- p.Gly23Ala Single submitter ⚠
- p.Gly23fs Single submitter
- p.Gly23Ser Single submitter ⚠
- p.Gly285Trp Single submitter ⚠
- p.Gly303Arg Single submitter ⚠
- p.Gly332Asp Single submitter retinitis pigmentosa 84 ⚠
- p.Gly332Val Single submitter ⚠
- p.Gly50Arg Single submitter ⚠
- p.Gly555Arg Single submitter ⚠
- p.Gly68Ala Single submitter ⚠