ROM1 — 398 ClinVar variants
All ClinVar germline ROM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 210 flagged for review →
1 Likely pathogenic · 22 Conflicting · 6 Benign · 7 Benign/Likely benign · 101 Likely benign · 261 Uncertain significance
Full ROM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 210
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 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ROM1 p.Ala235Thr
Conflicting
Single submitter
retinitis pigmentosa
-
ROM1 p.Arg16His
Conflicting
Single submitter
inherited retinal dystrophy
-
ROM1 p.Arg171His
Conflicting
Single submitter
inherited retinal dystrophy
-
ROM1 p.Arg198Gln
Conflicting
Single submitter
retinitis pigmentosa
- ROM1 p.Gly191Ser Conflicting Single submitter
- ROM1 p.Gly303Glu Conflicting Single submitter
- ROM1 p.Gly314Arg Conflicting Single submitter
-
ROM1 p.Leu141Ser
Conflicting
Single submitter
retinitis pigmentosa
- ROM1 p.Met318Leu Conflicting Single submitter
-
ROM1 p.Pro60Thr
Conflicting
Single submitter
retinitis pigmentosa
-
ROM1 p.Thr108Met
Conflicting
Single submitter
retinitis pigmentosa
Predictors lean, ClinVar uncertain 151
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 151
- ROM1 p.Ala132Val Uncertain significance Multiple submitters
- ROM1 p.Ala140Thr Uncertain significance Multiple submitters
-
ROM1 p.Ala265Thr
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
ROM1 p.Ala329Val
Uncertain significance
Multiple submitters
retinitis pigmentosa
- ROM1 p.Ala69Gly Uncertain significance Multiple submitters
- ROM1 p.Ala71Thr Uncertain significance Multiple submitters
- ROM1 p.Ala71Val Uncertain significance Multiple submitters
- ROM1 p.Ala90Thr Uncertain significance Multiple submitters
- ROM1 p.Ala90Val Uncertain significance Multiple submitters
-
ROM1 p.Arg186Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa 7
- ROM1 p.Arg193Gln Uncertain significance Multiple submitters
-
ROM1 p.Arg193Gly
Uncertain significance
Multiple submitters
retinitis pigmentosa
- ROM1 p.Arg198Trp Uncertain significance Multiple submitters
- ROM1 p.Arg223Gln Uncertain significance Multiple submitters
- ROM1 p.Arg242Gln Uncertain significance Multiple submitters
- ROM1 p.Arg97Gln Uncertain significance Multiple submitters
- ROM1 p.Asn245Ser Uncertain significance Multiple submitters
-
ROM1 p.Asp210Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ROM1 p.Asp240Asn Uncertain significance Multiple submitters
-
ROM1 p.Asp317Gly
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
ROM1 p.Cys168Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa
- ROM1 p.Cys169Tyr Uncertain significance Multiple submitters
- ROM1 p.Gln200His Uncertain significance Multiple submitters
-
ROM1 p.Gln325Pro
Uncertain significance
Multiple submitters
retinitis pigmentosa
- ROM1 p.Glu336Lys Uncertain significance Multiple submitters
- ROM1 p.Gly110Val Uncertain significance Multiple submitters
- ROM1 p.Gly111Arg Uncertain significance Multiple submitters
-
ROM1 p.Gly113Glu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ROM1 p.Gly113Val Uncertain significance Multiple submitters
-
ROM1 p.Gly170Arg
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ROM1 p.Gly173Glu Uncertain significance Multiple submitters
- ROM1 p.Gly285Ser Uncertain significance Multiple submitters
- ROM1 p.Gly314Glu Uncertain significance Multiple submitters
-
ROM1 p.Gly75Asp
Uncertain significance
Multiple submitters
retinitis pigmentosa 7
- ROM1 p.Gly75Ser Uncertain significance Multiple submitters
-
ROM1 p.Gly77Glu
Uncertain significance
Multiple submitters
retinitis pigmentosa
- ROM1 p.Ile300Thr Uncertain significance Multiple submitters
- ROM1 p.Leu248Ile Uncertain significance Multiple submitters
-
ROM1 p.Leu24Phe
Uncertain significance
Multiple submitters
retinitis pigmentosa
- ROM1 p.Leu36Phe Uncertain significance Multiple submitters
- ROM1 p.Pro102Leu Uncertain significance Multiple submitters
- ROM1 p.Pro334Thr Uncertain significance Multiple submitters
- ROM1 p.Pro343Thr Uncertain significance Multiple submitters
- ROM1 p.Pro3Leu Uncertain significance Multiple submitters
- ROM1 p.Trp177Cys Uncertain significance Multiple submitters
- ROM1 p.Val256Met Uncertain significance Multiple submitters
- ROM1 p.Val34Ile Uncertain significance Multiple submitters
- ROM1 p.Ala106Pro Uncertain significance Single submitter
- ROM1 p.Ala109Thr Uncertain significance Single submitter
- ROM1 p.Ala109Val Uncertain significance Single submitter
- ROM1 p.Ala122Gly Uncertain significance Single submitter
- ROM1 p.Ala140Gly Uncertain significance Single submitter
- ROM1 p.Ala140Pro Uncertain significance Single submitter
- ROM1 p.Ala18Ser Uncertain significance Single submitter
- ROM1 p.Ala235Val Uncertain significance Single submitter
- ROM1 p.Ala250Gly Uncertain significance Single submitter
- ROM1 p.Ala273Ser Uncertain significance Single submitter
- ROM1 p.Ala280Val Uncertain significance Single submitter
- ROM1 p.Ala302Val Uncertain significance Single submitter
- ROM1 p.Ala31Gly Uncertain significance Single submitter
- ROM1 p.Ala342Val Uncertain significance Single submitter
- ROM1 p.Ala68Thr Uncertain significance Single submitter
- ROM1 p.Ala86Ser Uncertain significance Single submitter
- ROM1 p.Arg165Lys Uncertain significance Single submitter
- ROM1 p.Arg165Ser Uncertain significance Single submitter
- ROM1 p.Arg16Cys Uncertain significance Single submitter
- ROM1 p.Arg193Trp Uncertain significance Single submitter
- ROM1 p.Arg331Ser Uncertain significance Single submitter
- ROM1 p.Arg85Gln Uncertain significance Single submitter
- ROM1 p.Arg85Trp Uncertain significance Single submitter
- ROM1 p.Asp130Asn Uncertain significance Single submitter
- ROM1 p.Asp197His Uncertain significance Single submitter
-
ROM1 p.Asp210Gly
Uncertain significance
Single submitter
retinitis pigmentosa
- ROM1 p.Cys169Arg Uncertain significance Single submitter
- ROM1 p.Cys253Tyr Uncertain significance Single submitter
- ROM1 p.Gln12Lys Uncertain significance Single submitter
- ROM1 p.Gln64Glu Uncertain significance Single submitter
- ROM1 p.Glu131Ala Uncertain significance Single submitter
- ROM1 p.Glu131Lys Uncertain significance Single submitter
- ROM1 p.Glu135Gly Uncertain significance Single submitter
- ROM1 p.Glu161Asp Uncertain significance Single submitter
- ROM1 p.Glu161Gly Uncertain significance Single submitter
- ROM1 p.Glu255Asp Uncertain significance Single submitter
- ROM1 p.Glu305Gly Uncertain significance Single submitter
- ROM1 p.Glu335Lys Uncertain significance Single submitter
- ROM1 p.Glu341Asp Uncertain significance Single submitter
- ROM1 p.Glu350Lys Uncertain significance Single submitter
- ROM1 p.Gly101Ser Uncertain significance Single submitter
- ROM1 p.Gly110Cys Uncertain significance Single submitter
- ROM1 p.Gly112Arg Uncertain significance Single submitter
-
ROM1 p.Gly113Ala
Uncertain significance
Single submitter
inherited retinal dystrophy
- ROM1 p.Gly118Ser Uncertain significance Single submitter
- ROM1 p.Gly211Ala Uncertain significance Single submitter
- ROM1 p.Gly266Asp Uncertain significance Single submitter
- ROM1 p.Gly266Ser Uncertain significance Single submitter
- ROM1 p.Gly298Glu Uncertain significance Single submitter
- ROM1 p.Gly304Arg Uncertain significance Single submitter
- ROM1 p.Gly308Asp Uncertain significance Single submitter
- ROM1 p.Gly32Arg Uncertain significance Single submitter
- ROM1 p.Gly32Ser Uncertain significance Single submitter
- ROM1 p.Gly50Ser Uncertain significance Single submitter
- ROM1 p.Gly77Arg Uncertain significance Single submitter
-
ROM1 p.Gly77Val
Uncertain significance
Single submitter
inherited retinal dystrophy
- ROM1 p.Gly82Ala Uncertain significance Single submitter
- ROM1 p.Gly82Arg Uncertain significance Single submitter
- ROM1 p.Gly82Glu Uncertain significance Single submitter
- ROM1 p.Gly98Arg Uncertain significance Single submitter
- ROM1 p.His167Arg Uncertain significance Single submitter
- ROM1 p.Ile15Val Uncertain significance Single submitter
- ROM1 p.Ile35Thr Uncertain significance Single submitter
- ROM1 p.Leu129Pro Uncertain significance Single submitter
- ROM1 p.Leu188Pro Uncertain significance Single submitter
- ROM1 p.Leu230Phe Uncertain significance Single submitter
- ROM1 p.Leu315Met Uncertain significance Single submitter
- ROM1 p.Leu348Arg Uncertain significance Single submitter
- ROM1 p.Leu49Val Uncertain significance Single submitter
- ROM1 p.Leu5Phe Uncertain significance Single submitter
- ROM1 p.Leu67Pro Uncertain significance Single submitter
- ROM1 p.Leu67Val Uncertain significance Single submitter
- ROM1 p.Leu7Arg Uncertain significance Single submitter
- ROM1 p.Lys145Arg Uncertain significance Single submitter
- ROM1 p.Lys175Arg Uncertain significance Single submitter
- ROM1 p.Lys320Gln Uncertain significance Single submitter
- ROM1 p.Lys345Arg Uncertain significance Single submitter
- ROM1 p.Met318Lys Uncertain significance Single submitter
- ROM1 p.Phe178Val Uncertain significance Single submitter
- ROM1 p.Pro10Arg Uncertain significance Single submitter
- ROM1 p.Pro213Ala Uncertain significance Single submitter
- ROM1 p.Pro334Ala Uncertain significance Single submitter
- ROM1 p.Pro338Ala Uncertain significance Single submitter
- ROM1 p.Pro338Leu Uncertain significance Single submitter
- ROM1 p.Pro60Ser Uncertain significance Single submitter
- ROM1 p.Pro6Ser Uncertain significance Single submitter
- ROM1 p.Ser215Phe Uncertain significance Single submitter
- ROM1 p.Ser313Asn Uncertain significance Single submitter
- ROM1 p.Ser313Gly Uncertain significance Single submitter
- ROM1 p.Ser84Arg Uncertain significance Single submitter
- ROM1 p.Thr267Lys Uncertain significance Single submitter
- ROM1 p.Thr51Ile Uncertain significance Single submitter
- ROM1 p.Trp249Arg Uncertain significance Single submitter
- ROM1 p.Trp96Cys Uncertain significance Single submitter
- ROM1 p.Tyr174Asp Uncertain significance Single submitter
- ROM1 p.Tyr234Cys Uncertain significance Single submitter
- ROM1 p.Val117Asp Uncertain significance Single submitter
- ROM1 p.Val117Ile Uncertain significance Single submitter
-
ROM1 p.Val149Ala
Uncertain significance
Single submitter
inherited retinal dystrophy
- ROM1 p.Val180Ile Uncertain significance Single submitter
- ROM1 p.Val282Met Uncertain significance Single submitter
- ROM1 p.Val299Ile Uncertain significance Single submitter
- ROM1 p.Val4Met Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
- ROM1 p.Ala54Thr Uncertain significance Multiple submitters
-
ROM1 p.Arg223Trp
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
ROM1 p.Arg287Trp
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ROM1 p.Gln181Glu Uncertain significance Multiple submitters
- ROM1 p.Gly136Ser Uncertain significance Multiple submitters
- ROM1 p.Gly151Trp Uncertain significance Multiple submitters
- ROM1 p.Gly33Asp Uncertain significance Multiple submitters
- ROM1 p.Leu206Pro Uncertain significance Multiple submitters
- ROM1 p.Pro126Arg Uncertain significance Multiple submitters
- ROM1 p.Pro126Ser Uncertain significance Multiple submitters
-
ROM1 p.Pro224Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ROM1 p.Pro237Arg Uncertain significance Multiple submitters
- ROM1 p.Pro63Ser Uncertain significance Multiple submitters
- ROM1 p.Pro95Leu Uncertain significance Multiple submitters
-
ROM1 p.Ser56Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
ROM1 p.Ser56Phe
Uncertain significance
Multiple submitters
retinitis pigmentosa 7
- ROM1 p.Trp22Gly Uncertain significance Multiple submitters
- ROM1 p.Trp96Gly Uncertain significance Multiple submitters
- ROM1 p.Tyr288His Uncertain significance Multiple submitters
- ROM1 p.Ala54Val Uncertain significance Single submitter
- ROM1 p.Ala65Pro Uncertain significance Single submitter
- ROM1 p.Ala69Val Uncertain significance Single submitter
- ROM1 p.Arg14Ser Uncertain significance Single submitter
- ROM1 p.Arg198Pro Uncertain significance Single submitter
- ROM1 p.Arg229Cys Uncertain significance Single submitter
-
ROM1 p.Asn202Ile
Uncertain significance
Single submitter
inherited retinal dystrophy
- ROM1 p.Asn218Lys Uncertain significance Single submitter
- ROM1 p.Asp240Val Uncertain significance Single submitter
- ROM1 p.Cys153Tyr Uncertain significance Single submitter
- ROM1 p.Gly120Arg Uncertain significance Single submitter
- ROM1 p.Gly20Arg Uncertain significance Single submitter
- ROM1 p.Gly80Ser Uncertain significance Single submitter
- ROM1 p.His236Gln Uncertain significance Single submitter
- ROM1 p.Leu114Phe Uncertain significance Single submitter
- ROM1 p.Leu123Pro Uncertain significance Single submitter
- ROM1 p.Leu238Pro Uncertain significance Single submitter
- ROM1 p.Leu261Ser Uncertain significance Single submitter
- ROM1 p.Leu27Met Uncertain significance Single submitter
- ROM1 p.Leu289Gln Uncertain significance Single submitter
- ROM1 p.Leu46Arg Uncertain significance Single submitter
- ROM1 p.Leu46Gln Uncertain significance Single submitter
- ROM1 p.Leu53Gln Uncertain significance Single submitter
- ROM1 p.Phe178Leu Uncertain significance Single submitter
- ROM1 p.Phe52Leu Uncertain significance Single submitter
- ROM1 p.Pro237Ser Uncertain significance Single submitter
- ROM1 p.Ser87Asn Uncertain significance Single submitter
- ROM1 p.Ser87Ile Uncertain significance Single submitter
-
ROM1 p.Ser39Asn
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All ROM1 variants
Likely pathogenic 1
- p.Leu104fs Single submitter retinitis pigmentosa 7
Conflicting classifications of pathogenicity 22
- c.590+13C>A Single submitter retinitis pigmentosa
- p.Ala235Thr Single submitter retinitis pigmentosa ⚠
- p.Ala302= Single submitter retinitis pigmentosa
- p.Ala71= Single submitter
- p.Arg16His Single submitter inherited retinal dystrophy ⚠
- p.Arg171His Single submitter inherited retinal dystrophy ⚠
- p.Arg198Gln Single submitter retinitis pigmentosa ⚠
- p.Arg242Ter Single submitter inherited retinal dystrophy
- p.Gly111fs Single submitter retinitis pigmentosa 7
- p.Gly191Ser Single submitter ⚠
- p.Gly303Glu Single submitter ⚠
- p.Gly314Arg Single submitter ⚠
- p.Leu114fs Single submitter retinitis pigmentosa 7
- p.Leu141Ser Single submitter retinitis pigmentosa ⚠
- p.Leu238fs Single submitter retinitis pigmentosa 7
- p.Leu27= Single submitter retinitis pigmentosa
- p.Lys345= Single submitter retinitis pigmentosa
- p.Met318Leu Single submitter ⚠
- p.Pro60Thr Single submitter retinitis pigmentosa ⚠
- p.Thr108Met Single submitter retinitis pigmentosa ⚠
- p.Val61= Single submitter retinitis pigmentosa
- p.Val81fs Single submitter retinitis pigmentosa 7
Benign 6
- c.-329G>T Multiple submitters retinitis pigmentosa
- p.Arg223= Multiple submitters inherited retinal dystrophy
- p.Gly118Ala Multiple submitters
- c.-438G>A Single submitter retinitis pigmentosa
- p.Gly118= Single submitter
- p.Trp323Arg Single submitter inherited retinal dystrophy
Benign/Likely benign 7
- p.Ala235= Multiple submitters
- p.Arg229His Multiple submitters inherited retinal dystrophy
- p.Gln290fs Multiple submitters
- p.Leu114= Multiple submitters retinitis pigmentosa
- p.Leu133= Multiple submitters retinitis pigmentosa
- p.Met271Thr Multiple submitters inherited retinal dystrophy
- p.Tyr234= Multiple submitters
Likely benign 101
- c.590+13C>T Multiple submitters
- c.590+14G>A Multiple submitters
- c.591-17T>C Multiple submitters
- c.838-13G>T Multiple submitters
- p.Ala86Thr Multiple submitters
- p.Arg193= Multiple submitters
- p.Gln307= Multiple submitters
- p.Glu134= Multiple submitters
- p.His172= Multiple submitters
- p.Leu119= Multiple submitters
- p.Leu123= Multiple submitters
- p.Leu21= Multiple submitters
- p.Leu36= Multiple submitters
- p.Phe239= Multiple submitters
- p.Pro10= Multiple submitters
- p.Pro190= Multiple submitters
- c.590+12G>A Single submitter
- c.590+12G>T Single submitter
- c.590+18C>T Single submitter
- c.591-15_591-14del Single submitter
- c.591-18_591-17del Single submitter
- c.591-9C>T Single submitter
- c.838-14T>G Single submitter
- c.838-17_838-16insTC Single submitter
- c.838-18C>T Single submitter
- c.838-19_838-18insT Single submitter
- c.838-19_838-18insTCC Single submitter
- c.838-4A>G Single submitter
- c.838-5C>G Single submitter
- c.838-6C>G Single submitter
- c.838-9C>T Single submitter
- c.-482G>C Single submitter retinitis pigmentosa
- c.-494G>A Single submitter retinitis pigmentosa
- c.*5C>G Single submitter
- p.Ala106= Single submitter
- p.Ala132= Single submitter
- p.Ala18= Single submitter
- p.Ala196= Single submitter
- p.Ala29= Single submitter
- p.Ala31= Single submitter
- p.Ala322= Single submitter
- p.Ala337= Single submitter
- p.Ala54= Single submitter
- p.Ala65= Single submitter
- p.Arg16= Single submitter
- p.Asn202= Single submitter
- p.Asn228= Single submitter
- p.Asp146= Single submitter
- p.Cys169= Single submitter
- p.Gln154= Single submitter
- p.Gln262= Single submitter
- p.Gln290= Single submitter
- p.Glu335= Single submitter
- p.Gly101= Single submitter
- p.Gly110= Single submitter
- p.Gly111= Single submitter
- p.Gly112= Single submitter
- p.Gly113= Single submitter
- p.Gly151= Single submitter
- p.Gly266= Single submitter
- p.Gly303= Single submitter
- p.Gly33= Single submitter
- p.Gly70= Single submitter
- p.His152= Single submitter
- p.His260= Single submitter
- p.Leu104= Single submitter
- p.Leu125= Single submitter
- p.Leu129= Single submitter
- p.Leu226= Single submitter
- p.Leu257= Single submitter
- p.Leu258= Single submitter
- p.Leu261= Single submitter
- p.Leu264= Single submitter
- p.Leu272= Single submitter
- p.Leu278= Single submitter
- p.Leu283= Single submitter
- p.Leu293= Single submitter
- p.Leu324= Single submitter
- p.Leu348= Single submitter
- p.Leu42= Single submitter
- p.Leu43= Single submitter
- p.Leu92= Single submitter
- p.Lys175= Single submitter
- p.Phe311= Single submitter
- p.Pro102= Single submitter
- p.Pro222= Single submitter
- p.Pro241= Single submitter
- p.Pro3= Single submitter
- p.Pro312= Single submitter
- p.Pro55= Single submitter
- p.Ser184= Single submitter
- p.Thr108= Single submitter
- p.Thr147= Single submitter
- p.Thr267= Single submitter
- p.Thr51= Single submitter
- p.Tyr144= Single submitter
- p.Tyr166= Single submitter
- p.Tyr93= Single submitter
- p.Val203= Single submitter
- p.Val79= Single submitter
- p.Val99= Single submitter
Uncertain significance 261
- c.590+5_590+8del Multiple submitters
- p.Ala132Val Multiple submitters ⚠
- p.Ala140Thr Multiple submitters ⚠
- p.Ala265Thr Multiple submitters retinitis pigmentosa ⚠
- p.Ala329Val Multiple submitters retinitis pigmentosa ⚠
- p.Ala54Thr Multiple submitters ⚠
- p.Ala69Gly Multiple submitters ⚠
- p.Ala71Thr Multiple submitters ⚠
- p.Ala71Val Multiple submitters ⚠
- p.Ala90Thr Multiple submitters ⚠
- p.Ala90Val Multiple submitters ⚠
- p.Arg14Cys Multiple submitters
- p.Arg16Gln Multiple submitters
- p.Arg186Cys Multiple submitters retinitis pigmentosa 7 ⚠
- p.Arg193Gln Multiple submitters ⚠
- p.Arg193Gly Multiple submitters retinitis pigmentosa ⚠
- p.Arg198Trp Multiple submitters ⚠
- p.Arg223Gln Multiple submitters ⚠
- p.Arg223Trp Multiple submitters retinitis pigmentosa ⚠
- p.Arg242Gln Multiple submitters ⚠
- p.Arg287Trp Multiple submitters inherited retinal dystrophy ⚠
- p.Arg97Gln Multiple submitters ⚠
- p.Arg97Ter Multiple submitters
- p.Asn245Ser Multiple submitters ⚠
- p.Asp210Val Multiple submitters inherited retinal dystrophy ⚠
- p.Asp240Asn Multiple submitters ⚠
- p.Asp317Gly Multiple submitters retinitis pigmentosa ⚠
- p.Cys168Arg Multiple submitters retinitis pigmentosa ⚠
- p.Cys169Tyr Multiple submitters ⚠
- p.Gln181Glu Multiple submitters ⚠
- p.Gln200His Multiple submitters ⚠
- p.Gln325Pro Multiple submitters retinitis pigmentosa ⚠
- p.Glu336Lys Multiple submitters ⚠
- p.Gly110Val Multiple submitters ⚠
- p.Gly111Arg Multiple submitters ⚠
- p.Gly111Trp Multiple submitters inherited retinal dystrophy
- p.Gly113Glu Multiple submitters inherited retinal dystrophy ⚠
- p.Gly113Val Multiple submitters ⚠
- p.Gly136Ser Multiple submitters ⚠
- p.Gly151Trp Multiple submitters ⚠
- p.Gly170Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Gly173Arg Multiple submitters
- p.Gly173Glu Multiple submitters ⚠
- p.Gly285Ser Multiple submitters ⚠
- p.Gly314Glu Multiple submitters ⚠
- p.Gly33Asp Multiple submitters ⚠
- p.Gly75Asp Multiple submitters retinitis pigmentosa 7 ⚠
- p.Gly75Ser Multiple submitters ⚠
- p.Gly77Glu Multiple submitters retinitis pigmentosa ⚠
- p.Ile300Thr Multiple submitters ⚠
- p.Leu206Pro Multiple submitters ⚠
- p.Leu248Ile Multiple submitters ⚠
- p.Leu24Phe Multiple submitters retinitis pigmentosa ⚠
- p.Leu36Phe Multiple submitters ⚠
- p.Met271Lys Multiple submitters
- p.Pro102Leu Multiple submitters ⚠
- p.Pro126Arg Multiple submitters ⚠
- p.Pro126Ser Multiple submitters ⚠
- p.Pro224Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Pro237Arg Multiple submitters ⚠
- p.Pro334Thr Multiple submitters ⚠
- p.Pro343Thr Multiple submitters ⚠
- p.Pro3Leu Multiple submitters ⚠
- p.Pro63Ser Multiple submitters ⚠
- p.Pro95Leu Multiple submitters ⚠
- p.Ser128fs Multiple submitters retinitis pigmentosa 7
- p.Ser56Cys Multiple submitters retinitis pigmentosa ⚠
- p.Ser56Phe Multiple submitters retinitis pigmentosa 7 ⚠
- p.Trp177Cys Multiple submitters ⚠
- p.Trp22Gly Multiple submitters ⚠
- p.Trp96Gly Multiple submitters ⚠
- p.Tyr207_Leu208del Multiple submitters
- p.Tyr288His Multiple submitters ⚠
- p.Tyr309Ser Multiple submitters retinitis pigmentosa
- p.Val256Met Multiple submitters ⚠
- p.Val34Ile Multiple submitters ⚠
- p.Val61fs Multiple submitters
- c.837+4A>T Single submitter
- c.-118G>C Single submitter retinitis pigmentosa
- c.-237G>T Single submitter retinitis pigmentosa
- c.-27C>T Single submitter retinitis pigmentosa
- c.-301C>T Single submitter retinitis pigmentosa
- c.-495G>T Single submitter retinitis pigmentosa
- c.-499G>C Single submitter retinitis pigmentosa
- c.-527G>A Single submitter retinitis pigmentosa
- c.-542C>T Single submitter retinitis pigmentosa
- c.*109G>A Single submitter retinitis pigmentosa
- c.*14G>C Single submitter retinitis pigmentosa
- c.*179A>C Single submitter retinitis pigmentosa
- c.*255C>T Single submitter retinitis pigmentosa
- p.Ala106Pro Single submitter ⚠
- p.Ala109Pro Single submitter
- p.Ala109Thr Single submitter ⚠
- p.Ala109Val Single submitter ⚠
- p.Ala122Gly Single submitter ⚠
- p.Ala140Gly Single submitter ⚠
- p.Ala140Pro Single submitter ⚠
- p.Ala18Ser Single submitter ⚠
- p.Ala235Val Single submitter ⚠
- p.Ala250Gly Single submitter ⚠
- p.Ala273Ser Single submitter ⚠
- p.Ala280Val Single submitter ⚠
- p.Ala302Val Single submitter ⚠
- p.Ala31Gly Single submitter ⚠
- p.Ala342Val Single submitter ⚠
- p.Ala54Val Single submitter ⚠
- p.Ala65Pro Single submitter ⚠
- p.Ala68Thr Single submitter ⚠
- p.Ala69Val Single submitter ⚠
- p.Ala86Glu Single submitter
- p.Ala86Ser Single submitter ⚠
- p.Arg14His Single submitter
- p.Arg14Ser Single submitter ⚠
- p.Arg165Lys Single submitter ⚠
- p.Arg165Ser Single submitter ⚠
- p.Arg16Cys Single submitter ⚠
- p.Arg186_Arg193dup Single submitter
- p.Arg193Trp Single submitter ⚠
- p.Arg198Pro Single submitter ⚠
- p.Arg223His Single submitter
- p.Arg229Cys Single submitter ⚠
- p.Arg331Ser Single submitter ⚠
- p.Arg85Gln Single submitter ⚠
- p.Arg85Trp Single submitter ⚠
- p.Asn202Asp Single submitter
- p.Asn202Ile Single submitter inherited retinal dystrophy ⚠
- p.Asn218Lys Single submitter ⚠
- p.Asp130Asn Single submitter ⚠
- p.Asp197His Single submitter ⚠
- p.Asp210Gly Single submitter retinitis pigmentosa ⚠
- p.Asp240Val Single submitter ⚠
- p.Cys153Tyr Single submitter ⚠
- p.Cys169Arg Single submitter ⚠
- p.Cys253Tyr Single submitter ⚠
- p.Gln12Lys Single submitter ⚠
- p.Gln243Ter Single submitter
- p.Gln262Ter Single submitter
- p.Gln279Ter Single submitter optic atrophy
- p.Gln64Glu Single submitter ⚠
- p.Gln64Ter Single submitter
- p.Glu131Ala Single submitter ⚠
- p.Glu131Lys Single submitter ⚠
- p.Glu135Gly Single submitter ⚠
- p.Glu161Asp Single submitter ⚠
- p.Glu161Gly Single submitter ⚠
- p.Glu255Asp Single submitter ⚠
- p.Glu305Gly Single submitter ⚠
- p.Glu335fs Single submitter
- p.Glu335Lys Single submitter ⚠
- p.Glu341Asp Single submitter ⚠
- p.Glu346= Single submitter inherited retinal dystrophy
- p.Glu350Lys Single submitter ⚠
- p.Gly101Ser Single submitter ⚠
- p.Gly107fs Single submitter
- p.Gly110Cys Single submitter ⚠
- p.Gly111Glu Single submitter
- p.Gly112Arg Single submitter ⚠
- p.Gly112fs Single submitter
- p.Gly112Glu Single submitter
- p.Gly113Ala Single submitter inherited retinal dystrophy ⚠
- p.Gly113fs Single submitter
- p.Gly118Ser Single submitter ⚠
- p.Gly120Arg Single submitter ⚠
- p.Gly20Arg Single submitter ⚠
- p.Gly20Glu Single submitter
- p.Gly211Ala Single submitter ⚠
- p.Gly266Asp Single submitter ⚠
- p.Gly266Ser Single submitter ⚠
- p.Gly285Asp Single submitter
- p.Gly298Glu Single submitter ⚠
- p.Gly304Arg Single submitter ⚠
- p.Gly308_Tyr309insTer Single submitter
- p.Gly308Asp Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly32Ser Single submitter ⚠
- p.Gly50Ser Single submitter ⚠
- p.Gly77Arg Single submitter ⚠
- p.Gly77Val Single submitter inherited retinal dystrophy ⚠
- p.Gly80Ser Single submitter ⚠
- p.Gly82Ala Single submitter ⚠
- p.Gly82Arg Single submitter ⚠
- p.Gly82Glu Single submitter ⚠
- p.Gly98Arg Single submitter ⚠
- p.His167Arg Single submitter ⚠
- p.His236Gln Single submitter ⚠
- p.His41fs Single submitter
- p.Ile15Val Single submitter ⚠
- p.Ile35Thr Single submitter ⚠
- p.Leu103fs Single submitter
- p.Leu114Phe Single submitter ⚠
- p.Leu115_Leu121del Single submitter
- p.Leu123Pro Single submitter ⚠
- p.Leu129Pro Single submitter ⚠
- p.Leu188Pro Single submitter ⚠
- p.Leu230Phe Single submitter ⚠
- p.Leu238Pro Single submitter ⚠
- p.Leu258_Glu259insLeu Single submitter
- p.Leu261Ser Single submitter ⚠
- p.Leu264_Gly269del Single submitter
- p.Leu27Met Single submitter ⚠
- p.Leu289Gln Single submitter ⚠
- p.Leu293Pro Single submitter
- p.Leu310_Phe311del Single submitter
- p.Leu315Met Single submitter ⚠
- p.Leu348Arg Single submitter ⚠
- p.Leu46Arg Single submitter ⚠
- p.Leu46Gln Single submitter ⚠
- p.Leu49Val Single submitter ⚠
- p.Leu53Gln Single submitter ⚠
- p.Leu5Phe Single submitter ⚠
- p.Leu67Pro Single submitter ⚠
- p.Leu67Val Single submitter ⚠
- p.Leu7Arg Single submitter ⚠
- p.Leu7fs Single submitter
- p.Lys145Arg Single submitter ⚠
- p.Lys175Arg Single submitter ⚠
- p.Lys320Gln Single submitter ⚠
- p.Lys345Arg Single submitter ⚠
- p.Met1fs Single submitter
- p.Met318Lys Single submitter ⚠
- p.Phe178Leu Single submitter ⚠
- p.Phe178Val Single submitter ⚠
- p.Phe52Leu Single submitter ⚠
- p.Pro10Arg Single submitter ⚠
- p.Pro213Ala Single submitter ⚠
- p.Pro237Ser Single submitter ⚠
- p.Pro334Ala Single submitter ⚠
- p.Pro338Ala Single submitter ⚠
- p.Pro338Leu Single submitter ⚠
- p.Pro60Ser Single submitter ⚠
- p.Pro6Ser Single submitter ⚠
- p.Ser215Phe Single submitter ⚠
- p.Ser221Ter Single submitter
- p.Ser313Asn Single submitter ⚠
- p.Ser313Gly Single submitter ⚠
- p.Ser84Arg Single submitter ⚠
- p.Ser87Asn Single submitter ⚠
- p.Ser87Ile Single submitter ⚠
- p.Ter352Glu Single submitter
- p.Thr267Lys Single submitter ⚠
- p.Thr275fs Single submitter
- p.Thr51Ile Single submitter ⚠
- p.Trp182Ter Single submitter
- p.Trp22_Leu23del Single submitter
- p.Trp22Ter Single submitter
- p.Trp249Arg Single submitter ⚠
- p.Trp96Cys Single submitter ⚠
- p.Tyr174Asp Single submitter ⚠
- p.Tyr207Ter Single submitter
- p.Tyr234Cys Single submitter ⚠
- p.Val117Asp Single submitter ⚠
- p.Val117Ile Single submitter ⚠
- p.Val149Ala Single submitter inherited retinal dystrophy ⚠
- p.Val180fs Single submitter
- p.Val180Ile Single submitter ⚠
- p.Val282Met Single submitter ⚠
- p.Val299Ile Single submitter ⚠
- p.Val4Met Single submitter ⚠
- p.Val61Ala Single submitter ⚠
- p.Gly308fs No assertion criteria inherited retinal dystrophy
- p.Ser39Asn No assertion criteria inherited retinal dystrophy ⚠