IFT88 — 558 ClinVar variants
All ClinVar germline IFT88 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 281 flagged for review →
5 Conflicting · 33 Benign · 2 Benign/Likely benign · 177 Likely benign · 341 Uncertain significance
Full IFT88 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 281
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 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
- IFT88 p.Ala37Gly Uncertain significance Multiple submitters
-
IFT88 p.Ala458Val
Uncertain significance
Multiple submitters
Rod-cone dystrophy
- IFT88 p.Ala510Pro Uncertain significance Multiple submitters
- IFT88 p.Ala546Thr Uncertain significance Multiple submitters
- IFT88 p.Ala628Ser Uncertain significance Multiple submitters
- IFT88 p.Asn24Ser Uncertain significance Multiple submitters
- IFT88 p.Asn293Ser Uncertain significance Multiple submitters
- IFT88 p.Asn752Ser Uncertain significance Multiple submitters
- IFT88 p.Asp399Glu Uncertain significance Multiple submitters
- IFT88 p.Asp808Ala Uncertain significance Multiple submitters
- IFT88 p.Asp808Asn Uncertain significance Multiple submitters
- IFT88 p.Asp89Val Uncertain significance Multiple submitters
- IFT88 p.Gln184Arg Uncertain significance Multiple submitters
- IFT88 p.Gln184His Uncertain significance Multiple submitters
- IFT88 p.Gln428Arg Uncertain significance Multiple submitters
- IFT88 p.Gln570Lys Uncertain significance Multiple submitters
- IFT88 p.Glu215Lys Uncertain significance Multiple submitters
- IFT88 p.Glu31Val Uncertain significance Multiple submitters
- IFT88 p.Glu553Ala Uncertain significance Multiple submitters
- IFT88 p.Glu824Gln Uncertain significance Multiple submitters
- IFT88 p.Ile313Val Uncertain significance Multiple submitters
- IFT88 p.Ile437Leu Uncertain significance Multiple submitters
- IFT88 p.Ile475Thr Uncertain significance Multiple submitters
- IFT88 p.Ile79Val Uncertain significance Multiple submitters
- IFT88 p.Leu200Phe Uncertain significance Multiple submitters
- IFT88 p.Leu331Met Uncertain significance Multiple submitters
- IFT88 p.Lys508Glu Uncertain significance Multiple submitters
- IFT88 p.Met301Val Uncertain significance Multiple submitters
- IFT88 p.Met462Val Uncertain significance Multiple submitters
- IFT88 p.Pro346Leu Uncertain significance Multiple submitters
- IFT88 p.Pro651Leu Uncertain significance Multiple submitters
- IFT88 p.Tyr500His Uncertain significance Multiple submitters
- IFT88 p.Tyr610Cys Uncertain significance Multiple submitters
- IFT88 p.Val402Met Uncertain significance Multiple submitters
- IFT88 p.Val42Met Uncertain significance Multiple submitters
- IFT88 p.Ala214Val Uncertain significance Single submitter
- IFT88 p.Ala216Thr Uncertain significance Single submitter
- IFT88 p.Ala232Thr Uncertain significance Single submitter
- IFT88 p.Ala302Ser Uncertain significance Single submitter
- IFT88 p.Ala383Ser Uncertain significance Single submitter
- IFT88 p.Ala387Thr Uncertain significance Single submitter
-
IFT88 p.Ala510Thr
Uncertain significance
Single submitter
retinitis pigmentosa
- IFT88 p.Ala66Gly Uncertain significance Single submitter
- IFT88 p.Ala76Val Uncertain significance Single submitter
- IFT88 p.Ala86Gly Uncertain significance Single submitter
- IFT88 p.Arg120Ser Uncertain significance Single submitter
- IFT88 p.Arg321Gln Uncertain significance Single submitter
- IFT88 p.Arg43Ser Uncertain significance Single submitter
- IFT88 p.Arg533Gln Uncertain significance Single submitter
- IFT88 p.Arg696Cys Uncertain significance Single submitter
- IFT88 p.Arg726His Uncertain significance Single submitter
- IFT88 p.Arg741Thr Uncertain significance Single submitter
- IFT88 p.Arg761Gln Uncertain significance Single submitter
- IFT88 p.Arg767Gly Uncertain significance Single submitter
- IFT88 p.Asn190Ser Uncertain significance Single submitter
- IFT88 p.Asn21Ser Uncertain significance Single submitter
- IFT88 p.Asn310His Uncertain significance Single submitter
- IFT88 p.Asn492Lys Uncertain significance Single submitter
- IFT88 p.Asn523Asp Uncertain significance Single submitter
- IFT88 p.Asn550Ser Uncertain significance Single submitter
- IFT88 p.Asn773Ser Uncertain significance Single submitter
- IFT88 p.Asp160Ala Uncertain significance Single submitter
- IFT88 p.Asp348Asn Uncertain significance Single submitter
- IFT88 p.Asp348Glu Uncertain significance Single submitter
- IFT88 p.Asp474His Uncertain significance Single submitter
- IFT88 p.Asp474Tyr Uncertain significance Single submitter
- IFT88 p.Asp480Gly Uncertain significance Single submitter
- IFT88 p.Asp732Glu Uncertain significance Single submitter
- IFT88 p.Asp748Asn Uncertain significance Single submitter
- IFT88 p.Asp819Asn Uncertain significance Single submitter
- IFT88 p.Asp89Gly Uncertain significance Single submitter
- IFT88 p.Cys517Arg Uncertain significance Single submitter
- IFT88 p.Cys540Tyr Uncertain significance Single submitter
- IFT88 p.Gln118Arg Uncertain significance Single submitter
- IFT88 p.Gln118His Uncertain significance Single submitter
- IFT88 p.Gln221Glu Uncertain significance Single submitter
- IFT88 p.Gln284Arg Uncertain significance Single submitter
- IFT88 p.Gln570Glu Uncertain significance Single submitter
- IFT88 p.Gln641Arg Uncertain significance Single submitter
- IFT88 p.Gln657Lys Uncertain significance Single submitter
- IFT88 p.Glu151Gln Uncertain significance Single submitter
- IFT88 p.Glu175Asp Uncertain significance Single submitter
- IFT88 p.Glu30Lys Uncertain significance Single submitter
- IFT88 p.Glu31Gln Uncertain significance Single submitter
- IFT88 p.Glu31Lys Uncertain significance Single submitter
- IFT88 p.Glu33Lys Uncertain significance Single submitter
- IFT88 p.Glu442Ala Uncertain significance Single submitter
- IFT88 p.Glu442Gly Uncertain significance Single submitter
- IFT88 p.Glu501Asp Uncertain significance Single submitter
- IFT88 p.Glu689Lys Uncertain significance Single submitter
- IFT88 p.Glu742Gln Uncertain significance Single submitter
- IFT88 p.Glu742Lys Uncertain significance Single submitter
- IFT88 p.Glu760Ala Uncertain significance Single submitter
- IFT88 p.Glu797Gly Uncertain significance Single submitter
- IFT88 p.Gly240Arg Uncertain significance Single submitter
- IFT88 p.Gly279Arg Uncertain significance Single submitter
- IFT88 p.Gly397Ser Uncertain significance Single submitter
- IFT88 p.Gly397Val Uncertain significance Single submitter
- IFT88 p.Gly498Ser Uncertain significance Single submitter
- IFT88 p.Gly730Ser Uncertain significance Single submitter
- IFT88 p.Gly747Asp Uncertain significance Single submitter
- IFT88 p.Gly747Ser Uncertain significance Single submitter
- IFT88 p.Gly750Ser Uncertain significance Single submitter
- IFT88 p.His297Asn Uncertain significance Single submitter
- IFT88 p.His351Tyr Uncertain significance Single submitter
- IFT88 p.His363Tyr Uncertain significance Single submitter
- IFT88 p.His681Arg Uncertain significance Single submitter
- IFT88 p.His6Gln Uncertain significance Single submitter
- IFT88 p.Ile154Val Uncertain significance Single submitter
- IFT88 p.Ile191Met Uncertain significance Single submitter
- IFT88 p.Ile191Thr Uncertain significance Single submitter
- IFT88 p.Ile223Thr Uncertain significance Single submitter
- IFT88 p.Ile253Val Uncertain significance Single submitter
- IFT88 p.Ile272Val Uncertain significance Single submitter
- IFT88 p.Ile292Val Uncertain significance Single submitter
- IFT88 p.Ile318Thr Uncertain significance Single submitter
- IFT88 p.Ile318Val Uncertain significance Single submitter
- IFT88 p.Ile332Thr Uncertain significance Single submitter
- IFT88 p.Ile359Lys Uncertain significance Single submitter
- IFT88 p.Ile359Val Uncertain significance Single submitter
- IFT88 p.Ile379Phe Uncertain significance Single submitter
- IFT88 p.Ile379Val Uncertain significance Single submitter
- IFT88 p.Ile475Met Uncertain significance Single submitter
- IFT88 p.Ile524Met Uncertain significance Single submitter
- IFT88 p.Ile547Met Uncertain significance Single submitter
- IFT88 p.Ile56Leu Uncertain significance Single submitter
- IFT88 p.Ile582Thr Uncertain significance Single submitter
- IFT88 p.Ile640Val Uncertain significance Single submitter
- IFT88 p.Ile65Thr Uncertain significance Single submitter
- IFT88 p.Ile727Val Uncertain significance Single submitter
- IFT88 p.Ile87Leu Uncertain significance Single submitter
- IFT88 p.Ile87Val Uncertain significance Single submitter
- IFT88 p.Leu165Ser Uncertain significance Single submitter
- IFT88 p.Leu178Pro Uncertain significance Single submitter
- IFT88 p.Leu217Val Uncertain significance Single submitter
- IFT88 p.Leu531Gln Uncertain significance Single submitter
- IFT88 p.Leu544Pro Uncertain significance Single submitter
- IFT88 p.Leu589Ser Uncertain significance Single submitter
- IFT88 p.Leu762Val Uncertain significance Single submitter
- IFT88 p.Leu792Val Uncertain significance Single submitter
- IFT88 p.Lys130Glu Uncertain significance Single submitter
- IFT88 p.Lys143Arg Uncertain significance Single submitter
- IFT88 p.Lys342Asn Uncertain significance Single submitter
- IFT88 p.Lys464Glu Uncertain significance Single submitter
- IFT88 p.Lys530Gln Uncertain significance Single submitter
- IFT88 p.Lys678Arg Uncertain significance Single submitter
- IFT88 p.Lys72Thr Uncertain significance Single submitter
- IFT88 p.Lys782Arg Uncertain significance Single submitter
- IFT88 p.Lys782Glu Uncertain significance Single submitter
- IFT88 p.Met228Arg Uncertain significance Single submitter
Predictors split 63
The independent predictors disagree with each other — read with care.
- IFT88 p.Ala327Thr Uncertain significance Multiple submitters
- IFT88 p.Arg369His Uncertain significance Multiple submitters
- IFT88 p.Arg533Trp Uncertain significance Multiple submitters
- IFT88 p.Arg692His Uncertain significance Multiple submitters
- IFT88 p.Arg696His Uncertain significance Multiple submitters
- IFT88 p.Arg726Cys Uncertain significance Multiple submitters
- IFT88 p.Cys663Ser Benign Multiple submitters
- IFT88 p.Ile623Thr Uncertain significance Multiple submitters
- IFT88 p.Leu511Val Uncertain significance Multiple submitters
- IFT88 p.Met239Val Uncertain significance Multiple submitters
- IFT88 p.Ser45Arg Uncertain significance Multiple submitters
- IFT88 p.Thr84Ala Likely benign Multiple submitters
- IFT88 p.Tyr461Cys Uncertain significance Multiple submitters
- IFT88 p.Ala510Gly Uncertain significance Single submitter
- IFT88 p.Ala639Thr Uncertain significance Single submitter
- IFT88 p.Arg247Ile Uncertain significance Single submitter
- IFT88 p.Arg257Gln Likely benign Single submitter
- IFT88 p.Arg369Cys Uncertain significance Single submitter
- IFT88 p.Arg726Ser Uncertain significance Single submitter
- IFT88 p.Arg738Cys Uncertain significance Single submitter
- IFT88 p.Arg798Gln Uncertain significance Single submitter
- IFT88 p.Asn455Ser Uncertain significance Single submitter
- IFT88 p.Asn560Asp Uncertain significance Single submitter
- IFT88 p.Asp114Tyr Uncertain significance Single submitter
- IFT88 p.Asp339Val Uncertain significance Single submitter
- IFT88 p.Cys517Phe Uncertain significance Single submitter
- IFT88 p.Gln557Arg Uncertain significance Single submitter
- IFT88 p.Glu296Asp Uncertain significance Single submitter
- IFT88 p.Glu296Lys Uncertain significance Single submitter
- IFT88 p.Glu501Val Uncertain significance Single submitter
- IFT88 p.Gly102Asp Uncertain significance Single submitter
- IFT88 p.Gly818Arg Uncertain significance Single submitter
- IFT88 p.His681Gln Uncertain significance Single submitter
- IFT88 p.Ile272Ser Uncertain significance Single submitter
- IFT88 p.Ile631Thr Uncertain significance Single submitter
- IFT88 p.Leu364Phe Uncertain significance Single submitter
- IFT88 p.Leu544Phe Uncertain significance Single submitter
- IFT88 p.Leu589Phe Uncertain significance Single submitter
- IFT88 p.Lys273Thr Uncertain significance Single submitter
- IFT88 p.Lys800Glu Uncertain significance Single submitter
- IFT88 p.Met299Thr Uncertain significance Single submitter
- IFT88 p.Met95Val Uncertain significance Single submitter
- IFT88 p.Pro335Ala Uncertain significance Single submitter
- IFT88 p.Pro64Leu Uncertain significance Single submitter
- IFT88 p.Pro794Ser Uncertain significance Single submitter
- IFT88 p.Pro799Ser Uncertain significance Single submitter
- IFT88 p.Pro799Thr Uncertain significance Single submitter
- IFT88 p.Pro82Arg Uncertain significance Single submitter
- IFT88 p.Ser294Leu Uncertain significance Single submitter
- IFT88 p.Ser408Cys Uncertain significance Single submitter
- IFT88 p.Ser45Ile Uncertain significance Single submitter
- IFT88 p.Ser662Gly Likely benign Single submitter
- IFT88 p.Ser744Arg Uncertain significance Single submitter
- IFT88 p.Thr801Ile Uncertain significance Single submitter
- IFT88 p.Trp574Cys Uncertain significance Single submitter
- IFT88 p.Tyr20Cys Uncertain significance Single submitter
- IFT88 p.Tyr243Cys Uncertain significance Single submitter
- IFT88 p.Tyr249Phe Uncertain significance Single submitter
- IFT88 p.Tyr460Cys Uncertain significance Single submitter
- IFT88 p.Tyr500Cys Uncertain significance Single submitter
- IFT88 p.Tyr788Cys Uncertain significance Single submitter
- IFT88 p.Val405Met Uncertain significance Single submitter
- IFT88 p.Val695Phe Uncertain significance Single submitter
All IFT88 variants
Conflicting classifications of pathogenicity 5
- p.Asn361fs Single submitter Rod-cone dystrophy
- p.Glu144Lys Single submitter ⚠
- p.Glu553Gln Single submitter ⚠
- p.Tyr753Cys Single submitter ⚠
- p.Arg696Pro No assertion criteria Jeune syndrome ⚠
Benign 33
- c.1199+12A>G Multiple submitters
- c.1300-15A>T Multiple submitters
- c.697+15T>C Multiple submitters
- c.-7+427A>G Multiple submitters
- p.Cys663Ser Multiple submitters ⚠
- p.Gly818= Multiple submitters
- p.Leu116Phe Multiple submitters
- p.Lys105= Multiple submitters
- p.Met374Ile Multiple submitters
- p.Ser205Gly Multiple submitters
- p.Ser446Asn Multiple submitters
- c.1042-6del Single submitter
- c.1199+11_1199+12del Single submitter
- c.1200-16A>G Single submitter
- c.1386+12dup Single submitter
- c.153+22del Single submitter
- c.154-4del Single submitter
- c.1834-20A>G Single submitter
- c.2003-14_2003-13del Single submitter
- c.2068+18A>C Single submitter
- c.2354-9G>A Single submitter
- c.490-18G>C Single submitter
- c.-7+765dup Single submitter
- p.Arg598His Single submitter
- p.Leu691= Single submitter
- p.Met374Lys Single submitter
- p.Pro82Ser Single submitter
- p.Ser347Asn Single submitter
- p.Ser612= Single submitter
- p.Ser746= Single submitter
- p.Tyr378= Single submitter
- p.Val405Leu Single submitter
- p.Val688= Single submitter
Benign/Likely benign 2
- c.698-7A>T Multiple submitters
- p.Pro82= Multiple submitters
Likely benign 177
- p.Ile29Thr Multiple submitters
- p.Ser580= Multiple submitters
- p.Thr84Ala Multiple submitters ⚠
- c.1041+10A>G Single submitter
- c.1041+12A>G Single submitter
- c.1041+15_1041+16del Single submitter
- c.1041+19T>C Single submitter
- c.1042-16_1042-15del Single submitter
- c.1112+11A>T Single submitter
- c.1113-16G>T Single submitter
- c.1113-19T>G Single submitter
- c.1113-4A>G Single submitter
- c.1200-11T>C Single submitter
- c.1299+10A>T Single submitter
- c.1299+12A>C Single submitter
- c.1299+17A>T Single submitter
- c.1299+18T>A Single submitter
- c.1299+18T>C Single submitter
- c.1300-12T>C Single submitter
- c.1300-16del Single submitter
- c.1386+16A>G Single submitter
- c.1386+17_1386+21del Single submitter
- c.1386+18del Single submitter
- c.1387-17A>G Single submitter
- c.1387-19G>A Single submitter
- c.153+13A>C Single submitter
- c.153+14A>T Single submitter
- c.153+15T>A Single submitter
- c.154-9C>T Single submitter
- c.1573+18A>G Single submitter
- c.1573+20A>G Single submitter
- c.1574-11_1574-9del Single submitter
- c.1574-15_1574-12del Single submitter
- c.1574-20_1574-15del Single submitter
- c.1574-4T>C Single submitter
- c.1682+8A>G Single submitter
- c.1683-19T>G Single submitter
- c.1683-20C>T Single submitter
- c.1683-4dup Single submitter
- c.1683-5A>G Single submitter
- c.1683-8T>C Single submitter
- c.1833+12dup Single submitter
- c.1833+13T>C Single submitter
- c.1833+5GT[2] Single submitter
- c.1833+7G>A Single submitter
- c.1834-17C>G Single submitter
- c.1950-4A>G Single submitter
- c.2002+13G>A Single submitter
- c.2068+9C>T Single submitter
- c.2069-16A>G Single submitter
- c.2069-17T>G Single submitter
- c.210+10T>A Single submitter
- c.210+17T>C Single submitter
- c.211-5A>G Single submitter
- c.2175+10A>G Single submitter
- c.2175+14G>A Single submitter
- c.2175+20A>G Single submitter
- c.2176-13C>T Single submitter
- c.2242+7A>G Single submitter
- c.2243-10G>A Single submitter
- c.2243-11C>T Single submitter
- c.2243-16A>G Single submitter
- c.2353+15C>T Single submitter
- c.2353+16C>G Single submitter
- c.2354-10C>T Single submitter
- c.2354-18A>G Single submitter
- c.264+16G>A Single submitter
- c.264+18A>G Single submitter
- c.264+9A>G Single submitter
- c.265-15C>T Single submitter
- c.265-9T>C Single submitter
- c.328+11C>G Single submitter
- c.328+12T>C Single submitter
- c.328+15C>G Single submitter
- c.329-16T>C Single submitter
- c.329-18T>C Single submitter
- c.398+20G>T Single submitter
- c.398+26_398+35del Single submitter
- c.399-11G>C Single submitter
- c.399-14T>C Single submitter
- c.399-15_399-12dup Single submitter
- c.399-17G>A Single submitter
- c.399-18T>G Single submitter
- c.399-19C>T Single submitter
- c.399-20C>G Single submitter
- c.490-16A>G Single submitter
- c.594+14T>C Single submitter
- c.595-17A>G Single submitter
- c.595-4T>G Single submitter
- c.697+11A>G Single submitter
- c.697+17A>G Single submitter
- c.698-15A>T Single submitter
- c.698-7A>G Single submitter
- c.812+10T>C Single submitter
- c.812+12A>G Single submitter
- c.812+15A>G Single submitter
- c.91-13G>A Single submitter
- c.91-14C>T Single submitter
- c.-7+746C>T Single submitter
- c.-7+751G>A Single submitter
- p.Ala164= Single submitter
- p.Ala171= Single submitter
- p.Ala216= Single submitter
- p.Ala373= Single submitter
- p.Ala396= Single submitter
- p.Ala41= Single submitter
- p.Ala452= Single submitter
- p.Ala496= Single submitter
- p.Ala503= Single submitter
- p.Ala552= Single submitter
- p.Ala76Thr Single submitter
- p.Ala786= Single submitter
- p.Ala813= Single submitter
- p.Arg120= Single submitter
- p.Arg257Gln Single submitter ⚠
- p.Arg369= Single submitter
- p.Arg427= Single submitter
- p.Arg447= Single submitter
- p.Arg765= Single submitter
- p.Arg806= Single submitter
- p.Arg81= Single submitter
- p.Asn202= Single submitter
- p.Asn248= Single submitter
- p.Asn267= Single submitter
- p.Asp114Glu Single submitter
- p.Asp22= Single submitter
- p.Asp399= Single submitter
- p.Asp535Val Single submitter
- p.Asp539= Single submitter
- p.Cys401= Single submitter
- p.Gln140= Single submitter
- p.Gln634= Single submitter
- p.Glu150= Single submitter
- p.Glu340= Single submitter
- p.Glu442= Single submitter
- p.Gly240= Single submitter
- p.Gly308= Single submitter
- p.Gly491= Single submitter
- p.Gly90= Single submitter
- p.His351= Single submitter
- p.His545= Single submitter
- p.Ile29= Single submitter
- p.Leu116= Single submitter
- p.Leu148= Single submitter
- p.Leu311= Single submitter
- p.Leu531= Single submitter
- p.Leu548= Single submitter
- p.Leu589= Single submitter
- p.Leu658= Single submitter
- p.Leu716= Single submitter
- p.Leu762= Single submitter
- p.Leu766= Single submitter
- p.Lys174= Single submitter
- p.Lys443= Single submitter
- p.Lys530= Single submitter
- p.Pro799= Single submitter
- p.Ser18= Single submitter
- p.Ser294= Single submitter
- p.Ser45= Single submitter
- p.Ser662Gly Single submitter ⚠
- p.Ser754= Single submitter
- p.Thr281= Single submitter
- p.Thr392= Single submitter
- p.Thr424= Single submitter
- p.Thr527= Single submitter
- p.Thr584= Single submitter
- p.Thr59= Single submitter
- p.Tyr220= Single submitter
- p.Tyr461= Single submitter
- p.Tyr556= Single submitter
- p.Tyr629= Single submitter
- p.Tyr677= Single submitter
- p.Val145= Single submitter
- p.Val423Ile Single submitter
- p.Val440= Single submitter
- p.Val477= Single submitter
- c.2175+8A>C No assertion criteria IFT88-related disorder
Uncertain significance 341
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala327Thr Multiple submitters ⚠
- p.Ala37Gly Multiple submitters ⚠
- p.Ala458Val Multiple submitters Rod-cone dystrophy ⚠
- p.Ala510Pro Multiple submitters ⚠
- p.Ala546Thr Multiple submitters ⚠
- p.Ala628Ser Multiple submitters ⚠
- p.Arg369His Multiple submitters ⚠
- p.Arg533Trp Multiple submitters ⚠
- p.Arg692His Multiple submitters ⚠
- p.Arg696His Multiple submitters ⚠
- p.Arg726Cys Multiple submitters ⚠
- p.Asn24Ser Multiple submitters ⚠
- p.Asn293Ser Multiple submitters ⚠
- p.Asn752Ser Multiple submitters ⚠
- p.Asp399Glu Multiple submitters ⚠
- p.Asp808Ala Multiple submitters ⚠
- p.Asp808Asn Multiple submitters ⚠
- p.Asp89Val Multiple submitters ⚠
- p.Gln184Arg Multiple submitters ⚠
- p.Gln184His Multiple submitters ⚠
- p.Gln428Arg Multiple submitters ⚠
- p.Gln570Lys Multiple submitters ⚠
- p.Glu215Lys Multiple submitters ⚠
- p.Glu31Val Multiple submitters ⚠
- p.Glu509Asp Multiple submitters
- p.Glu553Ala Multiple submitters ⚠
- p.Glu824Gln Multiple submitters ⚠
- p.Ile313Val Multiple submitters ⚠
- p.Ile437Leu Multiple submitters ⚠
- p.Ile475Thr Multiple submitters ⚠
- p.Ile623Thr Multiple submitters ⚠
- p.Ile79Val Multiple submitters ⚠
- p.Leu200Phe Multiple submitters ⚠
- p.Leu331Met Multiple submitters ⚠
- p.Leu438Ile Multiple submitters
- p.Leu511Val Multiple submitters ⚠
- p.Lys508Glu Multiple submitters ⚠
- p.Met239Val Multiple submitters ⚠
- p.Met301Val Multiple submitters ⚠
- p.Met462Val Multiple submitters ⚠
- p.Pro346Leu Multiple submitters ⚠
- p.Pro651Leu Multiple submitters ⚠
- p.Ser45Arg Multiple submitters ⚠
- p.Tyr461Cys Multiple submitters ⚠
- p.Tyr500His Multiple submitters ⚠
- p.Tyr610Cys Multiple submitters ⚠
- p.Val402Met Multiple submitters ⚠
- p.Val42Met Multiple submitters ⚠
- c.1041+1G>C Single submitter
- c.1113-6A>T Single submitter
- c.1199+5G>A Single submitter
- c.1299+1del Single submitter
- c.1573+1G>A Single submitter
- c.1574-1G>A Single submitter
- c.1682+2T>C Single submitter
- c.1682+6T>G Single submitter
- c.1683-17A>C Single submitter
- c.1683-3A>G Single submitter
- c.1833+1G>C Single submitter
- c.2003-29_2018del Single submitter
- c.2003-2A>G Single submitter
- c.2069-6A>G Single submitter
- c.211-12T>C Single submitter
- c.2242+2dup Single submitter
- c.264+1G>T Single submitter
- c.265-7T>C Single submitter
- c.329-5C>G Single submitter
- c.489+4A>C Single submitter
- c.490-12A>G Single submitter
- c.594+5G>T Single submitter
- c.698-8T>A Single submitter
- c.-6-11G>A Single submitter
- c.-6-12A>G Single submitter
- c.-7+721A>G Single submitter
- c.-7+736A>G Single submitter
- c.-7+739A>G Single submitter
- c.-7+747C>T Single submitter
- p.Ala214Val Single submitter ⚠
- p.Ala216Thr Single submitter ⚠
- p.Ala232Thr Single submitter ⚠
- p.Ala302Ser Single submitter ⚠
- p.Ala383Ser Single submitter ⚠
- p.Ala387Thr Single submitter ⚠
- p.Ala510Gly Single submitter ⚠
- p.Ala510Thr Single submitter retinitis pigmentosa ⚠
- p.Ala639Thr Single submitter ⚠
- p.Ala66Gly Single submitter ⚠
- p.Ala76Val Single submitter ⚠
- p.Ala802Val Single submitter
- p.Ala86fs Single submitter
- p.Ala86Gly Single submitter ⚠
- p.Arg120Ser Single submitter ⚠
- p.Arg182Ter Single submitter
- p.Arg247Ile Single submitter ⚠
- p.Arg257Ter Single submitter
- p.Arg321Gln Single submitter ⚠
- p.Arg369Cys Single submitter ⚠
- p.Arg43Ser Single submitter ⚠
- p.Arg533Gln Single submitter ⚠
- p.Arg696Cys Single submitter ⚠
- p.Arg726His Single submitter ⚠
- p.Arg726Ser Single submitter ⚠
- p.Arg738Cys Single submitter ⚠
- p.Arg741Thr Single submitter ⚠
- p.Arg761fs Single submitter
- p.Arg761Gln Single submitter ⚠
- p.Arg767Gly Single submitter ⚠
- p.Arg798Gln Single submitter ⚠
- p.Arg798Ter Single submitter
- p.Asn190fs Single submitter
- p.Asn190Ser Single submitter ⚠
- p.Asn218Tyr Single submitter
- p.Asn21Ser Single submitter ⚠
- p.Asn310His Single submitter ⚠
- p.Asn455Ser Single submitter ⚠
- p.Asn492Lys Single submitter ⚠
- p.Asn523Asp Single submitter ⚠
- p.Asn550Ser Single submitter ⚠
- p.Asn560Asp Single submitter ⚠
- p.Asn773Ser Single submitter ⚠
- p.Asp114Tyr Single submitter ⚠
- p.Asp160Ala Single submitter ⚠
- p.Asp339Val Single submitter ⚠
- p.Asp348Asn Single submitter ⚠
- p.Asp348Glu Single submitter ⚠
- p.Asp465Gly Single submitter
- p.Asp474His Single submitter ⚠
- p.Asp474Tyr Single submitter ⚠
- p.Asp480Gly Single submitter ⚠
- p.Asp539Tyr Single submitter
- p.Asp732Glu Single submitter ⚠
- p.Asp748Asn Single submitter ⚠
- p.Asp790fs Single submitter
- p.Asp819Asn Single submitter ⚠
- p.Asp89Gly Single submitter ⚠
- p.Cys517Arg Single submitter ⚠
- p.Cys517Phe Single submitter ⚠
- p.Cys540Tyr Single submitter ⚠
- p.Gln118Arg Single submitter ⚠
- p.Gln118His Single submitter ⚠
- p.Gln140fs Single submitter
- p.Gln221Glu Single submitter ⚠
- p.Gln262Ter Single submitter
- p.Gln284Arg Single submitter ⚠
- p.Gln557Arg Single submitter ⚠
- p.Gln570Glu Single submitter ⚠
- p.Gln641Arg Single submitter ⚠
- p.Gln657Lys Single submitter ⚠
- p.Glu151Gln Single submitter ⚠
- p.Glu175Asp Single submitter ⚠
- p.Glu296Asp Single submitter ⚠
- p.Glu296Lys Single submitter ⚠
- p.Glu30Lys Single submitter ⚠
- p.Glu31Gln Single submitter ⚠
- p.Glu31Lys Single submitter ⚠
- p.Glu33Lys Single submitter ⚠
- p.Glu442Ala Single submitter ⚠
- p.Glu442Gly Single submitter ⚠
- p.Glu501Asp Single submitter ⚠
- p.Glu501Val Single submitter ⚠
- p.Glu689Lys Single submitter ⚠
- p.Glu708Ter Single submitter
- p.Glu742Gln Single submitter ⚠
- p.Glu742Lys Single submitter ⚠
- p.Glu760Ala Single submitter ⚠
- p.Glu797Gly Single submitter ⚠
- p.Gly102Asp Single submitter ⚠
- p.Gly19Ser Single submitter
- p.Gly240Arg Single submitter ⚠
- p.Gly279Arg Single submitter ⚠
- p.Gly397Ser Single submitter ⚠
- p.Gly397Val Single submitter ⚠
- p.Gly498Ser Single submitter ⚠
- p.Gly70= Single submitter
- p.Gly730Ser Single submitter ⚠
- p.Gly747Asp Single submitter ⚠
- p.Gly747Ser Single submitter ⚠
- p.Gly750Ser Single submitter ⚠
- p.Gly818Arg Single submitter ⚠
- p.His297Asn Single submitter ⚠
- p.His351Tyr Single submitter ⚠
- p.His363Tyr Single submitter ⚠
- p.His681Arg Single submitter ⚠
- p.His681Gln Single submitter ⚠
- p.His6Gln Single submitter ⚠
- p.Ile154Val Single submitter ⚠
- p.Ile191Met Single submitter ⚠
- p.Ile191Thr Single submitter ⚠
- p.Ile223Thr Single submitter ⚠
- p.Ile253Val Single submitter ⚠
- p.Ile272Ser Single submitter ⚠
- p.Ile272Val Single submitter ⚠
- p.Ile292_Asn293insLeu Single submitter
- p.Ile292Val Single submitter ⚠
- p.Ile318Thr Single submitter ⚠
- p.Ile318Val Single submitter ⚠
- p.Ile332Thr Single submitter ⚠
- p.Ile359Lys Single submitter ⚠
- p.Ile359Val Single submitter ⚠
- p.Ile379Phe Single submitter ⚠
- p.Ile379Val Single submitter ⚠
- p.Ile386Thr Single submitter
- p.Ile475fs Single submitter
- p.Ile475Met Single submitter ⚠
- p.Ile524Met Single submitter ⚠
- p.Ile547Met Single submitter ⚠
- p.Ile56Leu Single submitter ⚠
- p.Ile582Thr Single submitter ⚠
- p.Ile631Thr Single submitter ⚠
- p.Ile640Val Single submitter ⚠
- p.Ile65Thr Single submitter ⚠
- p.Ile727Val Single submitter ⚠
- p.Ile87Leu Single submitter ⚠
- p.Ile87Val Single submitter ⚠
- p.Leu165Ser Single submitter ⚠
- p.Leu178Pro Single submitter ⚠
- p.Leu217Val Single submitter ⚠
- p.Leu331Phe Single submitter
- p.Leu364Ile Single submitter
- p.Leu364Phe Single submitter ⚠
- p.Leu364Val Single submitter
- p.Leu417fs Single submitter
- p.Leu531Gln Single submitter ⚠
- p.Leu544Phe Single submitter ⚠
- p.Leu544Pro Single submitter ⚠
- p.Leu589Phe Single submitter ⚠
- p.Leu589Ser Single submitter ⚠
- p.Leu762Val Single submitter ⚠
- p.Leu792Val Single submitter ⚠
- p.Lys130Glu Single submitter ⚠
- p.Lys139Ter Single submitter
- p.Lys143Arg Single submitter ⚠
- p.Lys273Thr Single submitter ⚠
- p.Lys342Asn Single submitter ⚠
- p.Lys464Glu Single submitter ⚠
- p.Lys530Gln Single submitter ⚠
- p.Lys678Arg Single submitter ⚠
- p.Lys72Thr Single submitter ⚠
- p.Lys782Arg Single submitter ⚠
- p.Lys782Glu Single submitter ⚠
- p.Lys800Glu Single submitter ⚠
- p.Met1Val Single submitter
- p.Met228Arg Single submitter ⚠
- p.Met228Ile Single submitter ⚠
- p.Met228Thr Single submitter ⚠
- p.Met270Val Single submitter ⚠
- p.Met299Thr Single submitter ⚠
- p.Met301Leu Single submitter ⚠
- p.Met367Thr Single submitter ⚠
- p.Met462Ile Single submitter ⚠
- p.Met565Lys Single submitter ⚠
- p.Met83Arg Single submitter ⚠
- p.Met83Val Single submitter ⚠
- p.Met95Leu Single submitter ⚠
- p.Met95Val Single submitter ⚠
- p.Phe541Ser Single submitter ⚠
- p.Phe606fs Single submitter
- p.Phe684Ser Single submitter ⚠
- p.Pro125Leu Single submitter ⚠
- p.Pro125Ser Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro335Ala Single submitter ⚠
- p.Pro484Ser Single submitter ⚠
- p.Pro50Arg Single submitter ⚠
- p.Pro64Leu Single submitter ⚠
- p.Pro770Leu Single submitter ⚠
- p.Pro770Ser Single submitter ⚠
- p.Pro794Ser Single submitter ⚠
- p.Pro799Ser Single submitter ⚠
- p.Pro799Thr Single submitter ⚠
- p.Pro82Arg Single submitter ⚠
- p.Pro9Ser Single submitter ⚠
- p.Ser119Leu Single submitter ⚠
- p.Ser152Asn Single submitter ⚠
- p.Ser198Ala Single submitter ⚠
- p.Ser289Ala Single submitter ⚠
- p.Ser294Leu Single submitter ⚠
- p.Ser300Thr Single submitter ⚠
- p.Ser393Ala Single submitter ⚠
- p.Ser408Cys Single submitter ⚠
- p.Ser408Thr Single submitter ⚠
- p.Ser45Ile Single submitter ⚠
- p.Ser471Asn Single submitter ⚠
- p.Ser471Gly Single submitter ⚠
- p.Ser612Leu Single submitter ⚠
- p.Ser647Cys Single submitter ⚠
- p.Ser71= Single submitter
- p.Ser734Asn Single submitter ⚠
- p.Ser744Arg Single submitter ⚠
- p.Ser746Thr Single submitter ⚠
- p.Ser754Asn Single submitter ⚠
- p.Ser763Thr Single submitter ⚠
- p.Ser779Gly Single submitter ⚠
- p.Ser77Leu Single submitter
- p.Thr104fs Single submitter
- p.Thr281Ala Single submitter ⚠
- p.Thr312Ser Single submitter ⚠
- p.Thr352_Asn353insTer Single submitter
- p.Thr392Ile Single submitter ⚠
- p.Thr454Ile Single submitter