CWC27 — 399 ClinVar variants
All ClinVar germline CWC27 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 154 flagged for review →
28 Pathogenic · 2 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 2 Conflicting · 26 Benign · 1 Benign/Likely benign · 155 Likely benign · 170 Uncertain significance
Full CWC27 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 154
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CWC27 p.Ser266Gly
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CWC27 p.Ala102Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Arg325Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Arg325Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Arg471Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Asp173His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Gln7Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Glu336Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Glu348Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Gly118Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Gly262Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Gly66Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Met281Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Pro59Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Ser203Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Thr403Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Trp419Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Tyr48Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CWC27 p.Tyr79Cys Uncertain significance Multiple submitters
-
CWC27 p.Val245Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CWC27 p.Ala100Val Uncertain significance Single submitter
- CWC27 p.Ala255Thr Uncertain significance Single submitter
-
CWC27 p.Ala267Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Ala295Val Uncertain significance Single submitter
- CWC27 p.Ala47Asp Uncertain significance Single submitter
- CWC27 p.Arg154Lys Uncertain significance Single submitter
- CWC27 p.Arg181Ser Uncertain significance Single submitter
- CWC27 p.Arg312His Uncertain significance Single submitter
- CWC27 p.Arg345Gly Uncertain significance Single submitter
- CWC27 p.Arg345Thr Uncertain significance Single submitter
- CWC27 p.Arg431Gly Uncertain significance Single submitter
- CWC27 p.Arg450Gln Uncertain significance Single submitter
- CWC27 p.Arg457Ser Uncertain significance Single submitter
- CWC27 p.Arg90Trp Uncertain significance Single submitter
- CWC27 p.Arg92Cys Uncertain significance Single submitter
- CWC27 p.Arg95Gln Uncertain significance Single submitter
- CWC27 p.Asn109Ser Uncertain significance Single submitter
- CWC27 p.Asn390Asp Uncertain significance Single submitter
- CWC27 p.Asn94Thr Uncertain significance Single submitter
- CWC27 p.Asp148Gly Uncertain significance Single submitter
- CWC27 p.Asp234Val Uncertain significance Single submitter
- CWC27 p.Asp239Gly Uncertain significance Single submitter
- CWC27 p.Asp260Glu Uncertain significance Single submitter
- CWC27 p.Asp264Asn Uncertain significance Single submitter
- CWC27 p.Asp415Val Uncertain significance Single submitter
- CWC27 p.Asp435His Uncertain significance Single submitter
- CWC27 p.Asp85Glu Uncertain significance Single submitter
- CWC27 p.Gln341Arg Uncertain significance Single submitter
-
CWC27 p.Glu153Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Glu268Ala Uncertain significance Single submitter
- CWC27 p.Glu271Ala Uncertain significance Single submitter
- CWC27 p.Glu283Lys Uncertain significance Single submitter
- CWC27 p.Glu412Asp Uncertain significance Single submitter
- CWC27 p.Gly253Ser Uncertain significance Single submitter
-
CWC27 p.Gly301Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CWC27 p.Gly75Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Gly80Arg Uncertain significance Single submitter
- CWC27 p.Gly97Arg Uncertain significance Single submitter
- CWC27 p.His156Tyr Uncertain significance Single submitter
- CWC27 p.His159Leu Uncertain significance Single submitter
- CWC27 p.His269Tyr Uncertain significance Single submitter
- CWC27 p.Ile24Thr Uncertain significance Single submitter
-
CWC27 p.Ile78Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Leu396Arg Uncertain significance Single submitter
- CWC27 p.Lys126Arg Uncertain significance Single submitter
- CWC27 p.Lys160Arg Uncertain significance Single submitter
- CWC27 p.Lys186Glu Uncertain significance Single submitter
- CWC27 p.Lys18Arg Uncertain significance Single submitter
- CWC27 p.Lys252Thr Uncertain significance Single submitter
- CWC27 p.Lys298Glu Uncertain significance Single submitter
- CWC27 p.Lys468Arg Uncertain significance Single submitter
- CWC27 p.Met281Ile Uncertain significance Single submitter
- CWC27 p.Met438Val Uncertain significance Single submitter
- CWC27 p.Met465Ile Uncertain significance Single submitter
- CWC27 p.Pro170Leu Uncertain significance Single submitter
-
CWC27 p.Pro170Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Pro34Ser Uncertain significance Single submitter
- CWC27 p.Pro34Thr Uncertain significance Single submitter
- CWC27 p.Pro409Thr Uncertain significance Single submitter
- CWC27 p.Pro68Leu Uncertain significance Single submitter
- CWC27 p.Pro68Ser Uncertain significance Single submitter
- CWC27 p.Ser266Asn Uncertain significance Single submitter
- CWC27 p.Thr11Met Uncertain significance Single submitter
- CWC27 p.Thr19Ser Uncertain significance Single submitter
-
CWC27 p.Thr293Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Thr397Ala Uncertain significance Single submitter
- CWC27 p.Thr71Lys Uncertain significance Single submitter
-
CWC27 p.Trp29Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CWC27 p.Tyr367Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Tyr79Asn Uncertain significance Single submitter
- CWC27 p.Val297Ala Uncertain significance Single submitter
- CWC27 p.Val335Ala Uncertain significance Single submitter
Predictors split 62
The independent predictors disagree with each other — read with care.
-
CWC27 p.Arg282Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Arg361Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Arg92His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Asn390Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Glu414Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Glu467Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Ile6Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Leu289Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Lys307Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Ser89Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Val221Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CWC27 p.Val335Gly
Uncertain significance
Multiple submitters
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- CWC27 p.Ala330Thr Uncertain significance Single submitter
- CWC27 p.Ala356Pro Uncertain significance Single submitter
- CWC27 p.Ala81Val Uncertain significance Single submitter
-
CWC27 p.Arg119Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Arg119Gly Uncertain significance Single submitter
- CWC27 p.Arg381Gln Uncertain significance Single submitter
- CWC27 p.Arg381Trp Uncertain significance Single submitter
- CWC27 p.Asn124Lys Uncertain significance Single submitter
- CWC27 p.Asn219Lys Uncertain significance Single submitter
- CWC27 p.Asn51His Uncertain significance Single submitter
- CWC27 p.Asp150Gly Uncertain significance Single submitter
- CWC27 p.Asp150Val Uncertain significance Single submitter
- CWC27 p.Gln332Pro Uncertain significance Single submitter
- CWC27 p.Gln384Arg Uncertain significance Single submitter
- CWC27 p.Glu178Lys Uncertain significance Single submitter
-
CWC27 p.Glu359Lys
Uncertain significance
Single submitter
inherited retinal dystrophy
-
CWC27 p.Glu363Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Glu459Gly Uncertain significance Single submitter
- CWC27 p.Glu459Lys Uncertain significance Single submitter
-
CWC27 p.Glu76Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Gly110Ser Uncertain significance Single submitter
- CWC27 p.Gly198Val Uncertain significance Single submitter
-
CWC27 p.His107Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.His241Tyr Uncertain significance Single submitter
- CWC27 p.Ile161Val Uncertain significance Single submitter
-
CWC27 p.Ile179Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Ile26Leu Uncertain significance Single submitter
- CWC27 p.Ile41Leu Uncertain significance Single submitter
-
CWC27 p.Ile41Val
Conflicting
Single submitter
inherited retinal dystrophy
- CWC27 p.Ile4Val Uncertain significance Single submitter
- CWC27 p.Leu236Val Uncertain significance Single submitter
- CWC27 p.Leu316Phe Uncertain significance Single submitter
- CWC27 p.Lys162Glu Uncertain significance Single submitter
- CWC27 p.Lys291Thr Uncertain significance Single submitter
- CWC27 p.Lys372Asn Uncertain significance Single submitter
-
CWC27 p.Lys377Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Lys84Glu Uncertain significance Single submitter
- CWC27 p.Met101Val Uncertain significance Single submitter
- CWC27 p.Met225Thr Uncertain significance Single submitter
- CWC27 p.Met281Thr Uncertain significance Single submitter
- CWC27 p.Met420Lys Uncertain significance Single submitter
- CWC27 p.Pro409Leu Uncertain significance Single submitter
- CWC27 p.Ser243Gly Uncertain significance Single submitter
- CWC27 p.Ser309Leu Uncertain significance Single submitter
- CWC27 p.Ser311Arg Uncertain significance Single submitter
-
CWC27 p.Ser73Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CWC27 p.Thr293Ile Uncertain significance Single submitter
- CWC27 p.Val138Ala Uncertain significance Single submitter
- CWC27 p.Val15Ile Uncertain significance Single submitter
-
CWC27 p.Thr52Asn
Uncertain significance
No assertion criteria
optic atrophy
All CWC27 variants
Pathogenic 28
- p.Ala356fs Multiple submitters metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- p.Arg143Ter Multiple submitters metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- p.Glu165= Multiple submitters retinitis pigmentosa
- p.Ser222fs Multiple submitters
- p.Val335fs Multiple submitters metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- c.669+1G>A Single submitter metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- p.Ala387fs Single submitter
- p.Arg119Ter Single submitter
- p.Arg345fs Single submitter
- p.Asn109fs Single submitter
- p.Gln332fs Single submitter
- p.Gln373fs Single submitter
- p.Gln374Ter Single submitter
- p.Glu277Ter Single submitter
- p.Glu32Ter Single submitter
- p.Glu76fs Single submitter
- p.Ile26fs Single submitter
- p.Ile41fs Single submitter
- p.Ile6fs Single submitter
- p.Lys226Ter Single submitter
- p.Lys308Ter Single submitter
- p.Lys334_Val335insTer Single submitter
- p.Phe202fs Single submitter
- p.Ser309Ter Single submitter
- p.Ser375fs Single submitter retinitis pigmentosa
- p.Tyr367Ter Single submitter
- p.Glu315Ter No assertion criteria metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- p.Ser206Ter No assertion criteria metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Pathogenic/Likely pathogenic 2
- p.Gly253fs Multiple submitters metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- p.Leu386fs Multiple submitters inherited retinal dystrophy
Likely pathogenic 15
- c.397-1G>A Multiple submitters metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- c.938+2T>C Multiple submitters metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- c.1152+2T>A Single submitter
- c.1153-1G>C Single submitter
- c.139+2T>C Single submitter metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- c.249_252+22del Single submitter metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- c.252+1G>A Single submitter
- c.397-2A>C Single submitter metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- c.42+1G>A Single submitter
- c.600-9_606del Single submitter
- c.749+1G>T Single submitter
- p.Asn219fs Single submitter metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- p.Glu122fs Single submitter metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- p.Glu277fs Single submitter metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- p.Lys291fs Single submitter metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Conflicting classifications of pathogenicity 2
- p.Ile41Val Single submitter inherited retinal dystrophy ⚠
- p.Ser266Gly Single submitter Inborn genetic diseases ⚠
Benign 26
- c.1042+18G>A Multiple submitters
- c.1042+7G>A Multiple submitters
- c.1153-17T>C Multiple submitters
- c.749+16G>T Multiple submitters metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- c.-31G>A Multiple submitters metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- p.Leu370= Multiple submitters metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- p.Pro256Ala Multiple submitters metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- c.1042+17C>T Single submitter
- c.139+3_139+4insAATTATGAC Single submitter
- c.140-4del Single submitter
- c.140-4dup Single submitter
- c.253-18A>C Single submitter
- c.496-14del Single submitter
- c.600-21del Single submitter metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- c.600-8del Single submitter
- c.669+18_669+25del Single submitter
- c.670-20A>C Single submitter
- c.670-6T>C Single submitter
- c.750-18T>G Single submitter
- c.750-3T>C Single submitter
- c.750-5dup Single submitter
- c.781-13dup Single submitter
- c.938+3212_938+3213dup Single submitter
- c.939-10del Single submitter
- p.Thr403= Single submitter
- c.938+3349C>T No assertion criteria CWC27-related disorder
Benign/Likely benign 1
- c.938+3284G>A Multiple submitters
Likely benign 155
- p.Ala255Glu Multiple submitters Inborn genetic diseases
- p.Glu153Lys Multiple submitters
- c.1042+10T>C Single submitter
- c.1042+11T>C Single submitter
- c.1042+20T>G Single submitter
- c.1043-16T>A Single submitter
- c.1043-16T>C Single submitter
- c.1043-9A>G Single submitter
- c.1153-13A>T Single submitter
- c.1153-14A>G Single submitter
- c.1153-7A>G Single submitter
- c.1256+18T>C Single submitter
- c.1256+19G>A Single submitter
- c.1256+7G>C Single submitter
- c.1257-14C>G Single submitter
- c.1257-15T>C Single submitter
- c.1257-20056G>A Single submitter
- c.1257-6A>G Single submitter
- c.1257-7del Single submitter
- c.139+13T>C Single submitter
- c.139+18C>A Single submitter
- c.140-13A>T Single submitter
- c.140-13del Single submitter
- c.140-4T>C Single submitter
- c.252+9G>A Single submitter
- c.253-20T>A Single submitter
- c.253-8_253-7insTAAATTCACTAA Single submitter
- c.253-8C>T Single submitter
- c.396+10C>G Single submitter
- c.396+10C>T Single submitter
- c.396+11A>G Single submitter
- c.396+19T>C Single submitter
- c.396+8T>G Single submitter
- c.397-12T>C Single submitter
- c.397-16A>G Single submitter
- c.397-19T>C Single submitter
- c.42+12A>G Single submitter
- c.42+16A>G Single submitter
- c.42+8C>T Single submitter
- c.43-18G>T Single submitter
- c.43-20A>G Single submitter
- c.495+15A>G Single submitter
- c.495+19C>T Single submitter
- c.495+20G>A Single submitter
- c.495+8C>A Single submitter
- c.496-13T>C Single submitter
- c.496-14A>G Single submitter
- c.496-14A>T Single submitter
- c.496-19G>A Single submitter
- c.496-20C>T Single submitter
- c.496-4A>G Single submitter
- c.496-6del Single submitter
- c.496-6T>C Single submitter
- c.599+10G>C Single submitter
- c.599+11T>C Single submitter
- c.599+19T>C Single submitter
- c.599+7A>G Single submitter
- c.599+9A>C Single submitter
- c.600-11T>C Single submitter
- c.600-16C>G Single submitter
- c.600-21_600-17del Single submitter
- c.600-5A>G Single submitter
- c.600-8dup Single submitter
- c.669+10A>G Single submitter
- c.669+17C>T Single submitter
- c.670-10T>C Single submitter
- c.670-15G>T Single submitter
- c.670-8C>A Single submitter
- c.749+10T>C Single submitter
- c.749+11T>C Single submitter
- c.749+12G>A Single submitter
- c.749+18A>G Single submitter
- c.749+20G>A Single submitter
- c.749+7C>T Single submitter
- c.749+9A>G Single submitter
- c.750-13A>G Single submitter
- c.750-13A>T Single submitter
- c.750-19T>G Single submitter
- c.750-4A>G Single submitter
- c.750-7T>C Single submitter
- c.780+17G>T Single submitter
- c.780+18T>C Single submitter
- c.781-10A>G Single submitter
- c.781-8T>C Single submitter
- c.938+10917T>C Single submitter
- c.938+12_938+13insT Single submitter
- c.938+13C>T Single submitter
- c.938+14_938+15insAGTGA Single submitter
- c.938+14T>C Single submitter
- c.938+3206T>C Single submitter
- c.939-3T>C Single submitter
- c.939-8C>G Single submitter
- p.Ala267= Single submitter
- p.Ala286= Single submitter
- p.Ala295= Single submitter
- p.Ala33= Single submitter
- p.Ala339= Single submitter
- p.Ala358= Single submitter
- p.Ala81= Single submitter
- p.Arg143= Single submitter
- p.Arg312= Single submitter
- p.Arg321= Single submitter
- p.Arg345= Single submitter
- p.Arg457= Single submitter
- p.Asn103= Single submitter
- p.Asn109= Single submitter
- p.Asn157= Single submitter
- p.Asn337= Single submitter
- p.Asn451= Single submitter
- p.Asp152= Single submitter
- p.Asp173= Single submitter
- p.Asp254= Single submitter
- p.Asp276= Single submitter
- p.Cys164= Single submitter
- p.Gln365= Single submitter
- p.Glu146= Single submitter
- p.Glu188= Single submitter
- p.Glu210= Single submitter
- p.Glu306= Single submitter
- p.Glu314= Single submitter
- p.Glu349= Single submitter
- p.Glu467= Single submitter
- p.Glu8= Single submitter
- p.Gly110= Single submitter
- p.Gly135= Single submitter
- p.Gly275= Single submitter
- p.Gly355= Single submitter
- p.Gly65= Single submitter
- p.His241= Single submitter
- p.Leu144= Single submitter
- p.Leu167= Single submitter
- p.Leu17= Single submitter
- p.Leu205= Single submitter
- p.Leu235= Single submitter
- p.Leu323= Single submitter
- p.Leu388= Single submitter
- p.Leu43= Single submitter
- p.Leu464= Single submitter
- p.Lys366= Single submitter
- p.Lys393= Single submitter
- p.Lys455= Single submitter
- p.Lys469= Single submitter
- p.Pro176= Single submitter
- p.Pro196= Single submitter
- p.Pro246= Single submitter
- p.Ser309= Single submitter
- p.Ser346= Single submitter
- p.Thr20= Single submitter
- p.Thr69= Single submitter
- p.Tyr272= Single submitter
- p.Tyr367= Single submitter
- p.Val138= Single submitter
- p.Val248= Single submitter
- p.Val433= Single submitter
- p.Val63= Single submitter
Uncertain significance 170
- c.1042+5G>A Multiple submitters Inborn genetic diseases
- c.495+4G>C Multiple submitters Inborn genetic diseases
- p.Ala102Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg282Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg325Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg325Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg361Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg471Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg92His Multiple submitters Inborn genetic diseases ⚠
- p.Asn390Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp173His Multiple submitters Inborn genetic diseases ⚠
- p.Gln7Pro Multiple submitters Inborn genetic diseases ⚠
- p.Glu336Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu348Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu414Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu467Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly118Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly262Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly66Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile6Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu289Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys307Met Multiple submitters Inborn genetic diseases ⚠
- p.Met281Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro59Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser203Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser89Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr403Met Multiple submitters Inborn genetic diseases ⚠
- p.Trp419Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr48Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr79Cys Multiple submitters ⚠
- p.Val221Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val245Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val335Gly Multiple submitters metaphyseal chondrodysplasia-retinitis pigmentosa syndrome ⚠
- c.1042+4del Single submitter
- c.1152+5C>T Single submitter
- c.139+3_139+4insAATTATGA Single submitter
- c.139+5G>A Single submitter
- c.140-3C>T Single submitter
- c.252+4del Single submitter
- c.396+5G>T Single submitter
- c.396+6T>C Single submitter
- c.938+25565T>A Single submitter metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- c.938+4A>T Single submitter
- p.Ala100Val Single submitter ⚠
- p.Ala255Thr Single submitter ⚠
- p.Ala267Thr Single submitter Inborn genetic diseases ⚠
- p.Ala295Val Single submitter ⚠
- p.Ala330Thr Single submitter ⚠
- p.Ala356Pro Single submitter ⚠
- p.Ala47Asp Single submitter ⚠
- p.Ala81Val Single submitter ⚠
- p.Arg119Gln Single submitter Inborn genetic diseases ⚠
- p.Arg119Gly Single submitter ⚠
- p.Arg154Lys Single submitter ⚠
- p.Arg181Ser Single submitter ⚠
- p.Arg220= Single submitter
- p.Arg312His Single submitter ⚠
- p.Arg345Gly Single submitter ⚠
- p.Arg345Thr Single submitter ⚠
- p.Arg381Gln Single submitter ⚠
- p.Arg381Trp Single submitter ⚠
- p.Arg431Gly Single submitter ⚠
- p.Arg450Gln Single submitter ⚠
- p.Arg457Ser Single submitter ⚠
- p.Arg90Trp Single submitter ⚠
- p.Arg92Cys Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Asn109Ser Single submitter ⚠
- p.Asn124Lys Single submitter ⚠
- p.Asn219Lys Single submitter ⚠
- p.Asn390Asp Single submitter ⚠
- p.Asn51His Single submitter ⚠
- p.Asn94Thr Single submitter ⚠
- p.Asp148Gly Single submitter ⚠
- p.Asp150Gly Single submitter ⚠
- p.Asp150Val Single submitter ⚠
- p.Asp234Val Single submitter ⚠
- p.Asp239Gly Single submitter ⚠
- p.Asp260Glu Single submitter ⚠
- p.Asp264Asn Single submitter ⚠
- p.Asp415Val Single submitter ⚠
- p.Asp435His Single submitter ⚠
- p.Asp85Glu Single submitter ⚠
- p.Gln332Pro Single submitter ⚠
- p.Gln341Arg Single submitter ⚠
- p.Gln384Arg Single submitter ⚠
- p.Glu153Ala Single submitter Inborn genetic diseases ⚠
- p.Glu178Lys Single submitter ⚠
- p.Glu268Ala Single submitter ⚠
- p.Glu271Ala Single submitter ⚠
- p.Glu283Lys Single submitter ⚠
- p.Glu359Lys Single submitter inherited retinal dystrophy ⚠
- p.Glu363Lys Single submitter Inborn genetic diseases ⚠
- p.Glu412Asp Single submitter ⚠
- p.Glu459Gly Single submitter ⚠
- p.Glu459Lys Single submitter ⚠
- p.Glu470fs Single submitter
- p.Glu76Asp Single submitter Inborn genetic diseases ⚠
- p.Gly110Ser Single submitter ⚠
- p.Gly198Val Single submitter ⚠
- p.Gly253Ser Single submitter ⚠
- p.Gly301Arg Single submitter Inborn genetic diseases ⚠
- p.Gly303del Single submitter
- p.Gly75Arg Single submitter Inborn genetic diseases ⚠
- p.Gly80Arg Single submitter ⚠
- p.Gly97Arg Single submitter ⚠
- p.His107Tyr Single submitter Inborn genetic diseases ⚠
- p.His156Tyr Single submitter ⚠
- p.His159Leu Single submitter ⚠
- p.His241Tyr Single submitter ⚠
- p.His269Tyr Single submitter ⚠
- p.Ile161Val Single submitter ⚠
- p.Ile179Met Single submitter Inborn genetic diseases ⚠
- p.Ile24Thr Single submitter ⚠
- p.Ile26Leu Single submitter ⚠
- p.Ile41Leu Single submitter ⚠
- p.Ile4Val Single submitter ⚠
- p.Ile78Val Single submitter Inborn genetic diseases ⚠
- p.Leu236Val Single submitter ⚠
- p.Leu316Phe Single submitter ⚠
- p.Leu396Arg Single submitter ⚠
- p.Lys126Arg Single submitter ⚠
- p.Lys160Arg Single submitter ⚠
- p.Lys162Glu Single submitter ⚠
- p.Lys186Glu Single submitter ⚠
- p.Lys18Arg Single submitter ⚠
- p.Lys252Thr Single submitter ⚠
- p.Lys291Thr Single submitter ⚠
- p.Lys298Glu Single submitter ⚠
- p.Lys308del Single submitter inherited retinal dystrophy
- p.Lys372Asn Single submitter ⚠
- p.Lys377Asn Single submitter Inborn genetic diseases ⚠
- p.Lys468Arg Single submitter ⚠
- p.Lys84Glu Single submitter ⚠
- p.Met101Val Single submitter ⚠
- p.Met225Thr Single submitter ⚠
- p.Met281Ile Single submitter ⚠
- p.Met281Thr Single submitter ⚠
- p.Met420Lys Single submitter ⚠
- p.Met438Val Single submitter ⚠
- p.Met465Ile Single submitter ⚠
- p.Pro170Leu Single submitter ⚠
- p.Pro170Thr Single submitter Inborn genetic diseases ⚠
- p.Pro34Ser Single submitter ⚠
- p.Pro34Thr Single submitter ⚠
- p.Pro409Leu Single submitter ⚠
- p.Pro409Thr Single submitter ⚠
- p.Pro68Leu Single submitter ⚠
- p.Pro68Ser Single submitter ⚠
- p.Ser243Gly Single submitter ⚠
- p.Ser266Asn Single submitter ⚠
- p.Ser309Leu Single submitter ⚠
- p.Ser311Arg Single submitter ⚠
- p.Ser73Arg Single submitter Inborn genetic diseases ⚠
- p.Thr11Met Single submitter ⚠
- p.Thr19Ser Single submitter ⚠
- p.Thr293Arg Single submitter Inborn genetic diseases ⚠
- p.Thr293Ile Single submitter ⚠
- p.Thr397Ala Single submitter ⚠
- p.Thr397fs Single submitter
- p.Thr71Lys Single submitter ⚠
- p.Trp29Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr367Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr79Asn Single submitter ⚠
- p.Val138Ala Single submitter ⚠
- p.Val15Ile Single submitter ⚠
- p.Val297Ala Single submitter ⚠
- p.Val335Ala Single submitter ⚠
- c.599+11T>A No assertion criteria inherited retinal dystrophy
- p.Thr52Asn No assertion criteria optic atrophy ⚠