KIZ — 517 ClinVar variants
All ClinVar germline KIZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 233 flagged for review →
21 Pathogenic · 16 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 24 Conflicting · 11 Benign · 13 Benign/Likely benign · 159 Likely benign · 253 Uncertain significance
Full KIZ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 233
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
KIZ p.Lys39Asn
Likely pathogenic
Single submitter
inherited retinal dystrophy
Predictors agree, ClinVar conflicts 17
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- KIZ p.Arg306Gln Conflicting Single submitter
- KIZ p.Arg582Lys Conflicting Single submitter
- KIZ p.Arg86His Conflicting Single submitter
- KIZ p.Arg86Leu Conflicting Single submitter
- KIZ p.Asn333His Conflicting Single submitter
- KIZ p.Asp587Asn Conflicting Single submitter
- KIZ p.Glu140Ala Conflicting Single submitter
- KIZ p.Glu426Gly Conflicting Single submitter
- KIZ p.Glu604Lys Conflicting Single submitter
- KIZ p.Gly400Asp Conflicting Single submitter
-
KIZ p.Gly601Ser
Conflicting
Single submitter
inherited retinal dystrophy
- KIZ p.His177Gln Conflicting Single submitter
- KIZ p.Ile309Thr Conflicting Single submitter
- KIZ p.Ile380Val Conflicting Single submitter
- KIZ p.Pro277Leu Conflicting Single submitter
-
KIZ p.Pro461Leu
Conflicting
Single submitter
inherited retinal dystrophy
- KIZ p.Ser169Gly Conflicting Single submitter
Predictors lean, ClinVar uncertain 210
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 210
- KIZ p.Ala447Thr Uncertain significance Multiple submitters
- KIZ p.Ala615Ser Uncertain significance Multiple submitters
- KIZ p.Arg162Cys Uncertain significance Multiple submitters
-
KIZ p.Arg259Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- KIZ p.Arg259His Uncertain significance Multiple submitters
- KIZ p.Arg306Trp Uncertain significance Multiple submitters
- KIZ p.Arg420Ser Uncertain significance Multiple submitters
- KIZ p.Arg76Gln Uncertain significance Multiple submitters
- KIZ p.Asn275Ser Uncertain significance Multiple submitters
- KIZ p.Asn477Tyr Uncertain significance Multiple submitters
- KIZ p.Asp120Val Uncertain significance Multiple submitters
- KIZ p.Asp132Glu Uncertain significance Multiple submitters
- KIZ p.Asp555Gly Uncertain significance Multiple submitters
- KIZ p.Asp666Gly Uncertain significance Multiple submitters
- KIZ p.Cys67Gly Uncertain significance Multiple submitters
- KIZ p.Gln358Pro Uncertain significance Multiple submitters
- KIZ p.Glu107Lys Uncertain significance Multiple submitters
- KIZ p.Glu176Lys Uncertain significance Multiple submitters
- KIZ p.Glu384Lys Uncertain significance Multiple submitters
- KIZ p.Glu403Lys Uncertain significance Multiple submitters
- KIZ p.Glu505Val Uncertain significance Multiple submitters
- KIZ p.Glu538Lys Uncertain significance Multiple submitters
- KIZ p.Glu79Gly Uncertain significance Multiple submitters
- KIZ p.His260Arg Uncertain significance Multiple submitters
- KIZ p.His502Arg Uncertain significance Multiple submitters
- KIZ p.His592Gln Uncertain significance Multiple submitters
- KIZ p.His93Tyr Uncertain significance Multiple submitters
- KIZ p.Ile232Thr Uncertain significance Multiple submitters
- KIZ p.Ile309Val Uncertain significance Multiple submitters
- KIZ p.Ile501Val Uncertain significance Multiple submitters
-
KIZ p.Leu128Arg
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- KIZ p.Leu37Pro Uncertain significance Multiple submitters
- KIZ p.Leu5Phe Uncertain significance Multiple submitters
- KIZ p.Lys178Arg Uncertain significance Multiple submitters
- KIZ p.Lys548Glu Uncertain significance Multiple submitters
- KIZ p.Met115Ile Uncertain significance Multiple submitters
- KIZ p.Met160Val Uncertain significance Multiple submitters
- KIZ p.Met364Thr Uncertain significance Multiple submitters
- KIZ p.Pro182His Uncertain significance Multiple submitters
- KIZ p.Pro237Thr Uncertain significance Multiple submitters
- KIZ p.Pro318Leu Uncertain significance Multiple submitters
- KIZ p.Pro342Leu Uncertain significance Multiple submitters
- KIZ p.Pro398Thr Uncertain significance Multiple submitters
- KIZ p.Ser326Ala Uncertain significance Multiple submitters
- KIZ p.Ser331Cys Uncertain significance Multiple submitters
- KIZ p.Ser376Gly Uncertain significance Multiple submitters
- KIZ p.Ser506Pro Uncertain significance Multiple submitters
- KIZ p.Ser547Asn Uncertain significance Multiple submitters
- KIZ p.Ser613Leu Uncertain significance Multiple submitters
- KIZ p.Thr129Ile Uncertain significance Multiple submitters
- KIZ p.Thr258Ile Uncertain significance Multiple submitters
- KIZ p.Thr4Ile Uncertain significance Multiple submitters
-
KIZ p.Thr95Ile
Uncertain significance
Multiple submitters
retinitis pigmentosa 69
- KIZ p.Val527Ile Uncertain significance Multiple submitters
- KIZ p.Ala316Val Uncertain significance Single submitter
-
KIZ p.Ala422Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
- KIZ p.Ala463Thr Uncertain significance Single submitter
- KIZ p.Ala470Val Uncertain significance Single submitter
- KIZ p.Ala490Ser Uncertain significance Single submitter
- KIZ p.Ala570Thr Uncertain significance Single submitter
- KIZ p.Ala656Ser Uncertain significance Single submitter
- KIZ p.Ala656Thr Uncertain significance Single submitter
- KIZ p.Ala6Ser Uncertain significance Single submitter
- KIZ p.Ala6Thr Uncertain significance Single submitter
- KIZ p.Ala73Ser Uncertain significance Single submitter
- KIZ p.Arg150Ile Uncertain significance Single submitter
- KIZ p.Arg162His Uncertain significance Single submitter
- KIZ p.Arg19Lys Uncertain significance Single submitter
- KIZ p.Arg19Thr Uncertain significance Single submitter
- KIZ p.Arg306Leu Uncertain significance Single submitter
- KIZ p.Arg3Gln Uncertain significance Single submitter
- KIZ p.Arg3Trp Uncertain significance Single submitter
- KIZ p.Arg462Lys Uncertain significance Single submitter
- KIZ p.Arg488Lys Uncertain significance Single submitter
- KIZ p.Arg497Cys Uncertain significance Single submitter
- KIZ p.Arg497His Uncertain significance Single submitter
- KIZ p.Arg659His Uncertain significance Single submitter
-
KIZ p.Asn202Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
- KIZ p.Asn286Ser Uncertain significance Single submitter
- KIZ p.Asn45Asp Uncertain significance Single submitter
-
KIZ p.Asn517Asp
Uncertain significance
Single submitter
inherited retinal dystrophy
- KIZ p.Asn530Asp Uncertain significance Single submitter
- KIZ p.Asn641Lys Uncertain significance Single submitter
- KIZ p.Asn664Ser Uncertain significance Single submitter
- KIZ p.Asp120Tyr Uncertain significance Single submitter
- KIZ p.Asp172His Uncertain significance Single submitter
- KIZ p.Asp205Glu Uncertain significance Single submitter
-
KIZ p.Asp290Asn
Uncertain significance
Single submitter
inherited retinal dystrophy
- KIZ p.Asp386Tyr Uncertain significance Single submitter
- KIZ p.Asp386Val Uncertain significance Single submitter
- KIZ p.Asp48Gly Uncertain significance Single submitter
- KIZ p.Asp516Gly Uncertain significance Single submitter
- KIZ p.Asp587Val Uncertain significance Single submitter
- KIZ p.Asp666Asn Uncertain significance Single submitter
- KIZ p.Asp669Gly Uncertain significance Single submitter
- KIZ p.Asp673Asn Uncertain significance Single submitter
- KIZ p.Cys251Phe Uncertain significance Single submitter
- KIZ p.Cys429Phe Uncertain significance Single submitter
- KIZ p.Cys495Gly Uncertain significance Single submitter
- KIZ p.Cys543Tyr Uncertain significance Single submitter
- KIZ p.Gln181His Uncertain significance Single submitter
- KIZ p.Gln432Pro Uncertain significance Single submitter
- KIZ p.Gln78Pro Uncertain significance Single submitter
- KIZ p.Gln88Glu Uncertain significance Single submitter
- KIZ p.Glu140Asp Uncertain significance Single submitter
- KIZ p.Glu307Gly Uncertain significance Single submitter
- KIZ p.Glu307Lys Uncertain significance Single submitter
- KIZ p.Glu330Asp Uncertain significance Single submitter
- KIZ p.Glu368Lys Uncertain significance Single submitter
- KIZ p.Glu384Gly Uncertain significance Single submitter
- KIZ p.Glu505Gln Uncertain significance Single submitter
- KIZ p.Glu68Gly Uncertain significance Single submitter
- KIZ p.Glu70Lys Uncertain significance Single submitter
- KIZ p.Glu85Gln Uncertain significance Single submitter
- KIZ p.Gly298Ala Uncertain significance Single submitter
- KIZ p.Gly399Asp Uncertain significance Single submitter
- KIZ p.Gly407Val Uncertain significance Single submitter
- KIZ p.Gly542Val Uncertain significance Single submitter
- KIZ p.Gly601Asp Uncertain significance Single submitter
- KIZ p.Gly622Ala Uncertain significance Single submitter
- KIZ p.His194Arg Uncertain significance Single submitter
- KIZ p.His260Gln Uncertain significance Single submitter
- KIZ p.His340Arg Uncertain significance Single submitter
- KIZ p.His349Arg Uncertain significance Single submitter
- KIZ p.His468Gln Uncertain significance Single submitter
- KIZ p.His663Arg Uncertain significance Single submitter
- KIZ p.His74Arg Uncertain significance Single submitter
- KIZ p.Ile167Val Uncertain significance Single submitter
- KIZ p.Ile232Ser Uncertain significance Single submitter
- KIZ p.Ile382Val Uncertain significance Single submitter
- KIZ p.Ile408Thr Uncertain significance Single submitter
- KIZ p.Ile501Leu Uncertain significance Single submitter
- KIZ p.Ile513Val Uncertain significance Single submitter
- KIZ p.Ile598Asn Uncertain significance Single submitter
- KIZ p.Leu11Gln Uncertain significance Single submitter
- KIZ p.Leu128Met Uncertain significance Single submitter
- KIZ p.Leu265Ser Uncertain significance Single submitter
- KIZ p.Leu274Pro Uncertain significance Single submitter
- KIZ p.Leu291Ser Uncertain significance Single submitter
- KIZ p.Leu431Ser Uncertain significance Single submitter
- KIZ p.Leu5Arg Uncertain significance Single submitter
- KIZ p.Leu5His Uncertain significance Single submitter
- KIZ p.Leu625Phe Uncertain significance Single submitter
- KIZ p.Leu63Val Uncertain significance Single submitter
- KIZ p.Lys270Asn Uncertain significance Single submitter
- KIZ p.Lys339Arg Uncertain significance Single submitter
- KIZ p.Lys39Arg Uncertain significance Single submitter
- KIZ p.Lys40Glu Uncertain significance Single submitter
- KIZ p.Lys524Ile Uncertain significance Single submitter
- KIZ p.Lys548Arg Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All KIZ variants
Pathogenic 21
- p.Arg76Ter Multiple submitters KIZ-related disorder
- p.His194fs Multiple submitters retinitis pigmentosa 69
- p.Lys40fs Multiple submitters KIZ-related disorder
- p.Arg315Ter Single submitter
- p.Arg83Ter Single submitter
- p.Asn428fs Single submitter
- p.Asp587fs Single submitter
- p.Cys67fs Single submitter
- p.Gln432fs Single submitter
- p.Gln464Ter Single submitter
- p.Glu245fs Single submitter
- p.Gly255Ter Single submitter
- p.His308_Ile309insTer Single submitter
- p.Leu104fs Single submitter
- p.Lys269Ter Single submitter
- p.Met164fs Single submitter
- p.Met236fs Single submitter
- p.Met364fs Single submitter
- p.Ser12Ter Single submitter
- p.Ser439Ter Single submitter
- p.Thr374fs Single submitter
Pathogenic/Likely pathogenic 16
- c.405+1dup Multiple submitters retinitis pigmentosa 69
- c.86_89+19del Multiple submitters KIZ-related disorder
- p.Arg195Ter Multiple submitters KIZ-related disorder
- p.Asn223fs Multiple submitters KIZ-related disorder
- p.Gln199Ter Multiple submitters KIZ-related disorder
- p.Gln22Ter Multiple submitters KIZ-related disorder
- p.Gln467fs Multiple submitters KIZ & PLK1S1-related disorders
- p.Glu18Ter Multiple submitters retinitis pigmentosa 69
- p.Gly21fs Multiple submitters inherited retinal dystrophy
- p.Leu625Ter Multiple submitters KIZ-related disorder
- p.Lys270fs Multiple submitters KIZ-related disorder
- p.Lys39fs Multiple submitters neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
- p.Met1Ile Multiple submitters KIZ-related disorder
- p.Phe84fs Multiple submitters KIZ-related disorder
- p.Pro318fs Multiple submitters KIZ-related disorder
- p.Trp335fs Multiple submitters KIZ-related retinopathy
Likely pathogenic 20
- c.1447-2A>G Multiple submitters KIZ-related disorder
- c.1612+2T>G Multiple submitters KIZ-related disorder
- c.1042+1G>T Single submitter KIZ-related disorder
- c.1353-1G>C Single submitter
- c.1353-2A>C Single submitter
- c.1446+1G>A Single submitter
- c.1447-1G>A Single submitter
- c.153-1G>C Single submitter KIZ-related disorder
- c.153-2A>G Single submitter
- c.1613-1G>A Single submitter
- c.1678+2T>C Single submitter
- c.316-2A>G Single submitter
- p.Asp459fs Single submitter KIZ-related disorder
- p.Cys293fs Single submitter KIZ-related disorder
- p.Gln337fs Single submitter
- p.Glu451fs Single submitter retinitis pigmentosa 69
- p.Lys39Asn Single submitter inherited retinal dystrophy ⚠
- p.Met1Thr Single submitter retinitis pigmentosa 69
- p.Pro182fs Single submitter KIZ-related retinopathy
- p.Thr484fs Single submitter KIZ-related disorder
Conflicting classifications of pathogenicity 24
- c.1783+15A>G Single submitter
- c.1924+3G>A Single submitter
- c.89+6G>A Single submitter
- p.Ala463fs Single submitter inherited retinal dystrophy
- p.Arg306Gln Single submitter ⚠
- p.Arg462fs Single submitter
- p.Arg582Lys Single submitter ⚠
- p.Arg86His Single submitter ⚠
- p.Arg86Leu Single submitter ⚠
- p.Asn333His Single submitter ⚠
- p.Asp587Asn Single submitter ⚠
- p.Glu140Ala Single submitter ⚠
- p.Glu426Gly Single submitter ⚠
- p.Glu604Lys Single submitter ⚠
- p.Gly400Asp Single submitter ⚠
- p.Gly601Ser Single submitter inherited retinal dystrophy ⚠
- p.His177Gln Single submitter ⚠
- p.Ile309Thr Single submitter ⚠
- p.Ile380Val Single submitter ⚠
- p.Leu106= Single submitter inherited retinal dystrophy
- p.Pro277Leu Single submitter ⚠
- p.Pro461Leu Single submitter inherited retinal dystrophy ⚠
- p.Ser169Gly Single submitter ⚠
- p.Ser507del Single submitter
Benign 11
- c.1784-11G>A Multiple submitters
- c.316-12C>G Multiple submitters
- p.Glu310Val Multiple submitters
- p.Gly496= Multiple submitters
- p.His139Gln Multiple submitters inherited retinal dystrophy
- p.Met170Arg Multiple submitters
- p.Met236Thr Multiple submitters inherited retinal dystrophy
- p.Pro14fs Multiple submitters inherited retinal dystrophy
- p.Pro624Ser Multiple submitters
- c.1447-13del Single submitter
- c.315+17del Single submitter
Benign/Likely benign 13
- c.1352+23del Multiple submitters
- c.1352+23dup Multiple submitters
- c.1881-20A>T Multiple submitters
- p.Asp222_Glu245del Multiple submitters
- p.Gly233Asp Multiple submitters
- p.Gly298Arg Multiple submitters inherited retinal dystrophy
- p.Phe603= Multiple submitters retinitis pigmentosa 69
- p.Pro342Ala Multiple submitters retinitis pigmentosa 69
- p.Pro461= Multiple submitters
- p.Ser444Cys Multiple submitters retinitis pigmentosa 69
- p.Thr305Lys Multiple submitters
- p.Tyr16= Multiple submitters inherited retinal dystrophy
- p.Val460Ile Multiple submitters
Likely benign 159
- c.1043-11G>A Multiple submitters
- c.1043-11G>T Multiple submitters
- c.1043-4G>A Multiple submitters
- c.152+10G>A Multiple submitters
- c.1783+18G>A Multiple submitters
- c.1784-12C>T Multiple submitters
- c.1924+16G>A Multiple submitters
- c.1925-4C>T Multiple submitters
- c.315+17T>C Multiple submitters
- c.316-18A>G Multiple submitters
- c.405+10T>C Multiple submitters
- c.405+18T>C Multiple submitters
- p.Ala490= Multiple submitters
- p.Ala554Ser Multiple submitters
- p.Arg659Cys Multiple submitters ⚠
- p.Arg86Cys Multiple submitters
- p.Asn575Asp Multiple submitters
- p.Asp457= Multiple submitters
- p.Asp48His Multiple submitters
- p.Asp666= Multiple submitters
- p.Glu653= Multiple submitters
- p.His139= Multiple submitters
- p.Lys314= Multiple submitters inherited retinal dystrophy
- p.Pro318= Multiple submitters
- p.Pro634= Multiple submitters
- p.Ser276= Multiple submitters
- p.Ser297= Multiple submitters
- p.Ser321Pro Multiple submitters inherited retinal dystrophy
- p.Thr288= Multiple submitters
- p.Val311= Multiple submitters
- c.1042+15T>C Single submitter
- c.1042+18G>A Single submitter
- c.1043-10C>T Single submitter
- c.1043-12C>T Single submitter
- c.1352+13A>T Single submitter
- c.1352+16T>G Single submitter
- c.1352+20T>C Single submitter
- c.1353-4A>C Single submitter
- c.1353-4A>T Single submitter
- c.1446+17T>C Single submitter
- c.1446+7A>G Single submitter
- c.152+18G>A Single submitter
- c.152+20A>G Single submitter
- c.152+9C>T Single submitter
- c.153-10A>G Single submitter
- c.153-11T>A Single submitter
- c.153-20A>T Single submitter
- c.1612+15dup Single submitter
- c.1612+7A>G Single submitter
- c.1612+9T>C Single submitter
- c.1613-17A>G Single submitter
- c.1613-17dup Single submitter
- c.1613-9A>G Single submitter
- c.1678+11G>A Single submitter
- c.1678+13T>C Single submitter
- c.1678+9A>G Single submitter
- c.1679-15_1679-10del Single submitter
- c.1679-18T>C Single submitter
- c.1783+16T>C Single submitter
- c.1783+18G>T Single submitter
- c.1784-10C>A Single submitter
- c.1784-11G>T Single submitter
- c.1784-17del Single submitter
- c.1784-18T>A Single submitter
- c.1784-18T>C Single submitter
- c.1784-19A>G Single submitter
- c.1880+13A>G Single submitter
- c.1880+15G>A Single submitter
- c.1924+15C>T Single submitter
- c.1924+20A>G Single submitter
- c.1925-14G>A Single submitter
- c.1925-17C>T Single submitter
- c.315+8C>T Single submitter
- c.316-8A>G Single submitter
- c.405+13A>G Single submitter
- c.405+14T>C Single submitter
- c.405+19A>G Single submitter
- c.89+18G>A Single submitter
- c.89+9A>C Single submitter
- c.90-14G>A Single submitter
- c.90-16A>C Single submitter
- c.90-20T>G Single submitter
- c.90-4A>G Single submitter
- c.-17G>C Single submitter
- c.-19C>T Single submitter
- p.Ala272= Single submitter
- p.Ala463= Single submitter
- p.Ala485= Single submitter
- p.Ala553= Single submitter
- p.Ala554= Single submitter
- p.Ala608= Single submitter
- p.Ala73= Single submitter
- p.Arg3= Single submitter
- p.Arg353= Single submitter
- p.Arg659= Single submitter
- p.Asn202= Single submitter
- p.Asn446= Single submitter
- p.Asn530= Single submitter
- p.Asn77= Single submitter
- p.Asp36= Single submitter
- p.Asp545= Single submitter
- p.Gln181= Single submitter
- p.Gln395= Single submitter
- p.Gln464= Single submitter
- p.Glu247= Single submitter
- p.Glu302= Single submitter
- p.Glu31= Single submitter
- p.Glu370= Single submitter
- p.Glu403= Single submitter
- p.Glu474= Single submitter
- p.Glu494= Single submitter
- p.Gly123= Single submitter
- p.His25= Single submitter
- p.His592= Single submitter
- p.His628= Single submitter
- p.Ile142= Single submitter
- p.Leu116= Single submitter
- p.Leu423= Single submitter
- p.Leu472= Single submitter
- p.Leu5= Single submitter
- p.Leu567= Single submitter
- p.Lys184= Single submitter
- p.Lys401= Single submitter
- p.Lys569Gln Single submitter
- p.Lys64= Single submitter
- p.Phe159= Single submitter
- p.Pro10= Single submitter
- p.Pro10Gln Single submitter
- p.Pro284= Single submitter
- p.Pro322= Single submitter
- p.Pro452= Single submitter
- p.Pro456= Single submitter
- p.Pro511= Single submitter
- p.Pro634Leu Single submitter
- p.Ser12= Single submitter
- p.Ser206= Single submitter
- p.Ser241= Single submitter
- p.Ser299= Single submitter
- p.Ser336= Single submitter
- p.Ser375= Single submitter
- p.Ser443= Single submitter
- p.Ser506= Single submitter
- p.Ser591= Single submitter
- p.Ser600= Single submitter
- p.Ser619= Single submitter
- p.Ser69= Single submitter
- p.Thr157= Single submitter
- p.Thr425= Single submitter
- p.Thr576= Single submitter
- p.Thr665= Single submitter
- p.Tyr564= Single submitter
- p.Tyr62= Single submitter
- p.Val209= Single submitter
- p.Val242= Single submitter
- p.Val52= Single submitter
- p.Val57= Single submitter
- p.Val9= Single submitter
- p.Phe94= No assertion criteria KIZ-related disorder
- p.Ser439= No assertion criteria KIZ-related disorder
Uncertain significance 253
- c.1783+4A>G Multiple submitters
- p.Ala156Pro Multiple submitters
- p.Ala447Thr Multiple submitters ⚠
- p.Ala615Ser Multiple submitters ⚠
- p.Arg162Cys Multiple submitters ⚠
- p.Arg259Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Arg259His Multiple submitters ⚠
- p.Arg306Trp Multiple submitters ⚠
- p.Arg34Ser Multiple submitters ⚠
- p.Arg420Ser Multiple submitters ⚠
- p.Arg76Gln Multiple submitters ⚠
- p.Asn275Ser Multiple submitters ⚠
- p.Asn477Tyr Multiple submitters ⚠
- p.Asp120Val Multiple submitters ⚠
- p.Asp132Glu Multiple submitters ⚠
- p.Asp555Gly Multiple submitters ⚠
- p.Asp666Gly Multiple submitters ⚠
- p.Cys67Gly Multiple submitters ⚠
- p.Gln358Pro Multiple submitters ⚠
- p.Glu107Lys Multiple submitters ⚠
- p.Glu176Lys Multiple submitters ⚠
- p.Glu384Lys Multiple submitters ⚠
- p.Glu403Lys Multiple submitters ⚠
- p.Glu505Val Multiple submitters ⚠
- p.Glu538Lys Multiple submitters ⚠
- p.Glu79Gly Multiple submitters ⚠
- p.His260Arg Multiple submitters ⚠
- p.His502Arg Multiple submitters ⚠
- p.His592Gln Multiple submitters ⚠
- p.His93Tyr Multiple submitters ⚠
- p.Ile158Thr Multiple submitters
- p.Ile232Thr Multiple submitters ⚠
- p.Ile309Val Multiple submitters ⚠
- p.Ile501Val Multiple submitters ⚠
- p.Leu128Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Leu37Pro Multiple submitters ⚠
- p.Leu5Phe Multiple submitters ⚠
- p.Lys178Arg Multiple submitters ⚠
- p.Lys548Glu Multiple submitters ⚠
- p.Met115Ile Multiple submitters ⚠
- p.Met160Val Multiple submitters ⚠
- p.Met364Thr Multiple submitters ⚠
- p.Phe159Leu Multiple submitters ⚠
- p.Pro182His Multiple submitters ⚠
- p.Pro237Thr Multiple submitters ⚠
- p.Pro318Leu Multiple submitters ⚠
- p.Pro342Leu Multiple submitters ⚠
- p.Pro398Thr Multiple submitters ⚠
- p.Ser326Ala Multiple submitters ⚠
- p.Ser331Cys Multiple submitters ⚠
- p.Ser376Gly Multiple submitters ⚠
- p.Ser506Pro Multiple submitters ⚠
- p.Ser547Asn Multiple submitters ⚠
- p.Ser613Leu Multiple submitters ⚠
- p.Thr129Ile Multiple submitters ⚠
- p.Thr258Ile Multiple submitters ⚠
- p.Thr305Ile Multiple submitters
- p.Thr4Ile Multiple submitters ⚠
- p.Thr95Ile Multiple submitters retinitis pigmentosa 69 ⚠
- p.Tyr44Cys Multiple submitters
- p.Val311del Multiple submitters inherited retinal dystrophy
- p.Val527Ile Multiple submitters ⚠
- c.1353-8T>A Single submitter
- c.1613-8A>G Single submitter
- c.1678+5A>G Single submitter
- c.315+5C>A Single submitter
- c.405+5T>C Single submitter
- c.405+9_405+13del Single submitter
- c.90-3T>C Single submitter
- p.Ala316Val Single submitter ⚠
- p.Ala422Ser Single submitter inherited retinal dystrophy ⚠
- p.Ala463Thr Single submitter ⚠
- p.Ala470Val Single submitter ⚠
- p.Ala490Ser Single submitter ⚠
- p.Ala570Thr Single submitter ⚠
- p.Ala656Ser Single submitter ⚠
- p.Ala656Thr Single submitter ⚠
- p.Ala6Ser Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Ala73Ser Single submitter ⚠
- p.Arg13fs Single submitter
- p.Arg150Ile Single submitter ⚠
- p.Arg162His Single submitter ⚠
- p.Arg19Lys Single submitter ⚠
- p.Arg19Thr Single submitter ⚠
- p.Arg306Leu Single submitter ⚠
- p.Arg3Gln Single submitter ⚠
- p.Arg3Trp Single submitter ⚠
- p.Arg462Lys Single submitter ⚠
- p.Arg488Lys Single submitter ⚠
- p.Arg497Cys Single submitter ⚠
- p.Arg497His Single submitter ⚠
- p.Arg659His Single submitter ⚠
- p.Asn185Lys Single submitter
- p.Asn202Ser Single submitter inherited retinal dystrophy ⚠
- p.Asn286Lys Single submitter
- p.Asn286Ser Single submitter ⚠
- p.Asn45Asp Single submitter ⚠
- p.Asn517Asp Single submitter inherited retinal dystrophy ⚠
- p.Asn530Asp Single submitter ⚠
- p.Asn641Lys Single submitter ⚠
- p.Asn664Ser Single submitter ⚠
- p.Asp120Tyr Single submitter ⚠
- p.Asp172His Single submitter ⚠
- p.Asp205Glu Single submitter ⚠
- p.Asp290Asn Single submitter inherited retinal dystrophy ⚠
- p.Asp386Tyr Single submitter ⚠
- p.Asp386Val Single submitter ⚠
- p.Asp48Gly Single submitter ⚠
- p.Asp516Gly Single submitter ⚠
- p.Asp587Val Single submitter ⚠
- p.Asp666Asn Single submitter ⚠
- p.Asp669Gly Single submitter ⚠
- p.Asp673Asn Single submitter ⚠
- p.Cys251Phe Single submitter ⚠
- p.Cys429Phe Single submitter ⚠
- p.Cys495Gly Single submitter ⚠
- p.Cys543Tyr Single submitter ⚠
- p.Gln163His Single submitter
- p.Gln181His Single submitter ⚠
- p.Gln432Pro Single submitter ⚠
- p.Gln78Pro Single submitter ⚠
- p.Gln88Glu Single submitter ⚠
- p.Glu140Asp Single submitter ⚠
- p.Glu307Gly Single submitter ⚠
- p.Glu307Lys Single submitter ⚠
- p.Glu330Asp Single submitter ⚠
- p.Glu368Lys Single submitter ⚠
- p.Glu384Gly Single submitter ⚠
- p.Glu384Val Single submitter
- p.Glu442= Single submitter inherited retinal dystrophy
- p.Glu482del Single submitter
- p.Glu505Gln Single submitter ⚠
- p.Glu522Ter Single submitter
- p.Glu653Gly Single submitter
- p.Glu65Lys Single submitter inherited retinal dystrophy
- p.Glu68Gly Single submitter ⚠
- p.Glu70Lys Single submitter ⚠
- p.Glu85Gln Single submitter ⚠
- p.Gly151Arg Single submitter
- p.Gly298Ala Single submitter ⚠
- p.Gly399Asp Single submitter ⚠
- p.Gly407Val Single submitter ⚠
- p.Gly542Val Single submitter ⚠
- p.Gly601Asp Single submitter ⚠
- p.Gly622Ala Single submitter ⚠
- p.His139Arg Single submitter
- p.His194Arg Single submitter ⚠
- p.His260Gln Single submitter ⚠
- p.His340Arg Single submitter ⚠
- p.His349Arg Single submitter ⚠
- p.His468Gln Single submitter ⚠
- p.His663Arg Single submitter ⚠
- p.His74Arg Single submitter ⚠
- p.Ile167Val Single submitter ⚠
- p.Ile232Ser Single submitter ⚠
- p.Ile382Val Single submitter ⚠
- p.Ile408Thr Single submitter ⚠
- p.Ile501Leu Single submitter ⚠
- p.Ile513Val Single submitter ⚠
- p.Ile598Asn Single submitter ⚠
- p.Leu11Gln Single submitter ⚠
- p.Leu128Met Single submitter ⚠
- p.Leu265Ser Single submitter ⚠
- p.Leu274Pro Single submitter ⚠
- p.Leu291Ser Single submitter ⚠
- p.Leu431Ser Single submitter ⚠
- p.Leu5Arg Single submitter ⚠
- p.Leu5His Single submitter ⚠
- p.Leu625Phe Single submitter ⚠
- p.Leu63Val Single submitter ⚠
- p.Lys119Asn Single submitter
- p.Lys270Asn Single submitter ⚠
- p.Lys339Arg Single submitter ⚠
- p.Lys33del Single submitter
- p.Lys39Arg Single submitter ⚠
- p.Lys40Glu Single submitter ⚠
- p.Lys524Ile Single submitter ⚠
- p.Lys548Arg Single submitter ⚠
- p.Lys569Glu Single submitter ⚠
- p.Lys60Glu Single submitter
- p.Lys631Glu Single submitter ⚠
- p.Lys632fs Single submitter
- p.Lys639Arg Single submitter ⚠
- p.Met115Val Single submitter ⚠
- p.Met148Ile Single submitter
- p.Met148Thr Single submitter ⚠
- p.Met148Val Single submitter ⚠
- p.Met160Leu Single submitter ⚠
- p.Met164Arg Single submitter ⚠
- p.Met1Val Single submitter
- p.Met402Ile Single submitter ⚠
- p.Pro14Ser Single submitter ⚠
- p.Pro189Ala Single submitter ⚠
- p.Pro319Ser Single submitter
- p.Pro342del Single submitter
- p.Pro355Ser Single submitter ⚠
- p.Pro360Leu Single submitter ⚠
- p.Pro394Leu Single submitter inherited retinal dystrophy ⚠
- p.Pro394Ser Single submitter ⚠
- p.Pro396Gln Single submitter ⚠
- p.Pro437Ser Single submitter ⚠
- p.Pro452Ala Single submitter ⚠
- p.Pro557Gln Single submitter ⚠
- p.Pro624Leu Single submitter ⚠
- p.Pro6Ser Single submitter
- p.Ser121Asn Single submitter ⚠
- p.Ser121Ile Single submitter ⚠
- p.Ser174Gly Single submitter ⚠
- p.Ser179Cys Single submitter ⚠
- p.Ser296Pro Single submitter ⚠
- p.Ser30Thr Single submitter ⚠
- p.Ser326Leu Single submitter ⚠
- p.Ser383Arg Single submitter ⚠
- p.Ser383Asn Single submitter
- p.Ser436Phe Single submitter ⚠
- p.Ser499Leu Single submitter ⚠
- p.Ser503Thr Single submitter ⚠
- p.Ser504Gly Single submitter ⚠
- p.Ser512Thr Single submitter ⚠
- p.Ser541Gly Single submitter ⚠
- p.Ser5Cys Single submitter inherited retinal dystrophy
- p.Ser600Asn Single submitter ⚠
- p.Ser616Gly Single submitter ⚠
- p.Ser618Pro Single submitter ⚠
- p.Ser620Arg Single submitter ⚠
- p.Ser620Asn Single submitter ⚠
- p.Ser650Thr Single submitter ⚠
- p.Thr110Ile Single submitter ⚠
- p.Thr211Ala Single submitter ⚠
- p.Thr215Ser Single submitter ⚠
- p.Thr239Ile Single submitter ⚠
- p.Thr249Ala Single submitter ⚠
- p.Thr249Asn Single submitter ⚠
- p.Thr288Ile Single submitter ⚠
- p.Thr374Ser Single submitter ⚠
- p.Thr449Ala Single submitter ⚠
- p.Thr455Ile Single submitter ⚠
- p.Thr471Ile Single submitter ⚠
- p.Thr484Ile Single submitter ⚠
- p.Thr9= Single submitter inherited retinal dystrophy
- p.Tyr44His Single submitter ⚠
- p.Tyr672Cys Single submitter ⚠
- p.Val138Met Single submitter ⚠
- p.Val311Ile Single submitter inherited retinal dystrophy ⚠
- p.Val320Phe Single submitter ⚠
- p.Val469Leu Single submitter ⚠
- p.Val590Met Single submitter ⚠
- p.Val635fs Single submitter
- p.Val635Met Single submitter ⚠
- p.Val87Leu Single submitter ⚠
- p.Val92= Single submitter inherited retinal dystrophy
- p.Val92Leu Single submitter ⚠