LSS — 371 ClinVar variants
All ClinVar germline LSS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →
18 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 5 Conflicting · 72 Benign · 12 Benign/Likely benign · 102 Likely benign · 148 Uncertain significance
Full LSS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 133
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
LSS p.Arg177Gln
Pathogenic/Likely pathogenic
Multiple submitters
alopecia-intellectual disability syndrome 4
-
LSS p.Asn516Ser
Likely pathogenic
Multiple submitters
LSS-related disorder
-
LSS p.Leu102Val
Pathogenic
Single submitter
alopecia-intellectual disability syndrome 4
-
LSS p.Gly12Asp
Pathogenic
No assertion criteria
alopecia-intellectual disability syndrome 4
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 95
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
LSS p.Ala399Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LSS p.Ala73Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LSS p.Arg347His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LSS p.Arg547Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LSS p.Gln385Lys Uncertain significance Multiple submitters
- LSS p.Gly207Ala Uncertain significance Multiple submitters
-
LSS p.Gly383Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LSS p.Tyr158Cys Uncertain significance Multiple submitters
-
LSS p.Ala198Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Ala390Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Ala553Thr Uncertain significance Single submitter
-
LSS p.Ala554Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Ala597Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Ala608Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Arg116His
Uncertain significance
Single submitter
cataract 44
-
LSS p.Arg129Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Arg132Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Arg234Gly Uncertain significance Single submitter
- LSS p.Arg234Trp Uncertain significance Single submitter
-
LSS p.Arg247Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Arg247Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Arg277Ser
Uncertain significance
Single submitter
hypotrichosis 14
-
LSS p.Arg294Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Arg294His Uncertain significance Single submitter
-
LSS p.Arg364Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Arg435Leu Uncertain significance Single submitter
- LSS p.Arg438His Uncertain significance Single submitter
-
LSS p.Arg438Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Arg482Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Arg557Gln Uncertain significance Single submitter
- LSS p.Arg663Gln Uncertain significance Single submitter
-
LSS p.Arg675Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Asp170Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Asp283Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Asp327Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Asp632Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Cys410Arg
Uncertain significance
Single submitter
cataract 44
-
LSS p.Cys410Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gln135His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gln317Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gln359Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gln40Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gln431Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gln689Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Glu214Ala Uncertain significance Single submitter
-
LSS p.Glu360Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Glu406Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Glu476Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Glu565Gln Uncertain significance Single submitter
-
LSS p.Gly11Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gly11Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gly139Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gly139Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gly207Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Gly450Ser Uncertain significance Single submitter
-
LSS p.Gly50Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gly658Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.His415Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.His510Arg Uncertain significance Single submitter
- LSS p.His664Tyr Uncertain significance Single submitter
-
LSS p.His731Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Ile127Thr Uncertain significance Single submitter
-
LSS p.Ile163Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Ile335Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Ile478Met
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Ile649Met Uncertain significance Single submitter
-
LSS p.Ile667Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Leu229His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Leu311Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Leu515Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Leu541Pro Uncertain significance Single submitter
-
LSS p.Lys542Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Lys546Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Phe633Ser Uncertain significance Single submitter
-
LSS p.Pro282Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Pro472Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Pro496Leu Uncertain significance Single submitter
-
LSS p.Pro724Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Ser408Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Ser445Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Ser706Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Thr111Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Thr705Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Thr95Met Uncertain significance Single submitter
-
LSS p.Trp205Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Trp387Cys Uncertain significance Single submitter
-
LSS p.Trp629Cys
Uncertain significance
Single submitter
cataract 44
-
LSS p.Tyr242His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Tyr84Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Val114Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Val280Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Val346Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Val350Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Val85Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Leu78Val
Uncertain significance
No assertion criteria
Developmental cataract
Predictors split 32
The independent predictors disagree with each other — read with care.
-
LSS p.Arg260His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LSS p.Arg614Trp Benign Multiple submitters
-
LSS p.Gly522Arg
Uncertain significance
Multiple submitters
cataract 44
-
LSS p.Met215Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LSS p.Tyr286Cys
Likely pathogenic
Multiple submitters
hypotrichosis 14
- LSS p.Ala245Thr Uncertain significance Single submitter
-
LSS p.Ala275Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Ala460Thr Uncertain significance Single submitter
-
LSS p.Ala53Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Arg116Cys Likely benign Single submitter
- LSS p.Arg116Leu Likely benign Single submitter
-
LSS p.Arg482Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Arg622Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Arg8Gly
Uncertain significance
Single submitter
alopecia-intellectual disability syndrome 4
-
LSS p.Asp497Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Cys567Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Gln422Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Glu284Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.His361Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Ile323Thr Uncertain significance Single submitter
-
LSS p.Ile710Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Leu156Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Leu461Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Leu682Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- LSS p.Pro101Leu Uncertain significance Single submitter
- LSS p.Pro366Arg Uncertain significance Single submitter
-
LSS p.Ser355Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Tyr303Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LSS p.Tyr723Ser
Uncertain significance
Single submitter
hypotrichosis 14
-
LSS p.Ile342Ser
Pathogenic
No assertion criteria
cataract 44
-
LSS p.Leu248Pro
Pathogenic
No assertion criteria
hypotrichosis 14
-
LSS p.Thr705Lys
Pathogenic
No assertion criteria
alopecia-intellectual disability syndrome 4
All LSS variants
Pathogenic 18
- p.Trp216Ter Multiple submitters alopecia-intellectual disability syndrome 4
- c.1109+2T>C Single submitter alopecia-intellectual disability syndrome 4
- p.Arg604Ter Single submitter
- p.Gly165fs Single submitter Inborn genetic diseases
- p.Gly508Arg Single submitter alopecia-intellectual disability syndrome 4
- p.Leu102fs Single submitter
- p.Leu102Val Single submitter alopecia-intellectual disability syndrome 4 ⚠
- p.Leu229fs Single submitter
- p.Lys148fs Single submitter
- p.Ser339Leu Single submitter alopecia-intellectual disability syndrome 4
- p.Thr652Ile Single submitter alopecia-intellectual disability syndrome 4
- p.Trp141Ter Single submitter
- p.Arg260Pro No assertion criteria alopecia-intellectual disability syndrome 4
- p.Gly12Asp No assertion criteria alopecia-intellectual disability syndrome 4 ⚠
- p.Ile342Ser No assertion criteria cataract 44 ⚠
- p.Leu248Pro No assertion criteria hypotrichosis 14 ⚠
- p.Thr705Lys No assertion criteria alopecia-intellectual disability syndrome 4 ⚠
- p.Trp581Arg No assertion criteria cataract 44
Pathogenic/Likely pathogenic 2
- p.Arg177Gln Multiple submitters alopecia-intellectual disability syndrome 4 ⚠
- p.Leu259fs Multiple submitters
Likely pathogenic 12
- p.Asn516Ser Multiple submitters LSS-related disorder ⚠
- p.Tyr286Cys Multiple submitters hypotrichosis 14 ⚠
- c.1317+1G>T Single submitter cataract 44
- c.1565-2del Single submitter Inborn genetic diseases
- c.1670+1G>T Single submitter
- c.1989-1G>A Single submitter
- c.429-1G>A Single submitter alopecia-intellectual disability syndrome 4
- p.Arg175Ter Single submitter alopecia-intellectual disability syndrome 4
- p.Asn209Ile Single submitter
- p.Asn209Tyr Single submitter alopecia-intellectual disability syndrome 4
- p.Phe391Ser Single submitter cataract 44
- p.Thr341fs Single submitter
Conflicting classifications of pathogenicity 5
- c.1138-4G>T Single submitter Inborn genetic diseases
- c.1194+5G>A Single submitter LSS-related disorder
- p.Arg568Trp Single submitter ⚠
- p.Gly352Arg Single submitter
- p.Gly588Ser Single submitter cataract 44 ⚠
Benign 72
- c.1012-40G>C Multiple submitters
- c.1110-29A>G Multiple submitters
- c.1137+20G>A Multiple submitters
- c.1137+55T>C Multiple submitters
- c.1194+52G>A Multiple submitters
- c.1195-31C>T Multiple submitters
- c.1267-160C>A Multiple submitters
- c.1467+97G>T Multiple submitters
- c.1468-46G>A Multiple submitters
- c.1468-77G>T Multiple submitters
- c.1670+92A>G Multiple submitters
- c.1736+36C>T Multiple submitters
- c.1736+45C>G Multiple submitters
- c.181-16_181-15del Multiple submitters alopecia-intellectual disability syndrome 4
- c.1818-85C>A Multiple submitters
- c.1989-293T>G Multiple submitters
- c.2068-136A>G Multiple submitters
- c.319+27G>T Multiple submitters
- c.319+84A>T Multiple submitters
- c.428+130G>A Multiple submitters
- c.428+147G>A Multiple submitters
- c.428+221G>C Multiple submitters
- c.428+272G>A Multiple submitters
- c.429-107G>C Multiple submitters
- c.429-127G>A Multiple submitters
- c.550+68C>A Multiple submitters
- c.551-62G>A Multiple submitters
- c.551-6G>C Multiple submitters alopecia-intellectual disability syndrome 4
- c.648-119C>T Multiple submitters
- c.784-149G>C Multiple submitters
- c.784-6C>T Multiple submitters cataract 44
- c.892+22G>A Multiple submitters
- c.892+54C>T Multiple submitters
- c.893-8C>T Multiple submitters
- c.*33G>A Multiple submitters
- p.Ala121= Multiple submitters
- p.Ala269Thr Multiple submitters
- p.Ala298Val Multiple submitters
- p.Arg175Gln Multiple submitters
- p.Arg614Trp Multiple submitters ⚠
- p.Arg622Gln Multiple submitters
- p.Asn516= Multiple submitters
- p.His310Arg Multiple submitters
- p.His650= Multiple submitters
- p.Leu642Val Multiple submitters cataract 44
- p.Pro288= Multiple submitters alopecia-intellectual disability syndrome 4
- p.Pro688Leu Multiple submitters
- c.1011+179C>T Single submitter
- c.1138-204C>T Single submitter
- c.1138-293A>G Single submitter
- c.1138-302G>A Single submitter
- c.1138-304C>T Single submitter
- c.1266+200C>T Single submitter
- c.1318-227_1318-226del Single submitter
- c.15-12G>A Single submitter
- c.1565-249C>T Single submitter
- c.1670+206G>A Single submitter
- c.180+124C>T Single submitter
- c.181-15del Single submitter
- c.1817+89GTTT[5] Single submitter
- c.1988+211A>C Single submitter
- c.1988+236A>G Single submitter
- c.1989-20T>G Single submitter
- c.2067+7C>T Single submitter
- c.2068-161T>C Single submitter
- c.2068-209T>C Single submitter
- c.320-262T>A Single submitter
- c.648-269G>A Single submitter
- c.784-176G>A Single submitter
- c.893-93dup Single submitter
- c.*78del Single submitter
- p.Leu263= Single submitter
Benign/Likely benign 12
- c.181-17_181-15del Multiple submitters
- c.181-27dup Multiple submitters cataract 44
- c.1988+8C>T Multiple submitters
- p.Ala251Val Multiple submitters alopecia-intellectual disability syndrome 4
- p.Ala309= Multiple submitters
- p.Ala460= Multiple submitters
- p.Arg31Lys Multiple submitters
- p.Asp388= Multiple submitters
- p.Phe596= Multiple submitters
- p.Pro282= Multiple submitters
- p.Thr287Met Multiple submitters Inborn genetic diseases
- p.Tyr244= Multiple submitters
Likely benign 102
- c.1138-5T>C Multiple submitters
- c.1267-97C>T Multiple submitters
- c.1817+187C>G Multiple submitters
- p.Asn691= Multiple submitters
- p.Asp485= Multiple submitters
- p.Asp626= Multiple submitters
- p.Tyr587= Multiple submitters
- c.1011+9C>T Single submitter
- c.1012-13G>A Single submitter
- c.1012-7C>T Single submitter
- c.1109+15G>A Single submitter
- c.1109+85C>T Single submitter
- c.1110-222C>G Single submitter
- c.1194+14_1194+16del Single submitter
- c.1195-11G>C Single submitter
- c.1195-43G>A Single submitter
- c.1266+8C>T Single submitter
- c.1267-11A>T Single submitter
- c.1267-128G>A Single submitter
- c.1267-13C>T Single submitter
- c.1267-145C>T Single submitter
- c.1317+16C>T Single submitter
- c.1467+236C>T Single submitter
- c.1467+252C>T Single submitter
- c.15-11G>T Single submitter
- c.15-12G>C Single submitter
- c.15-13C>G Single submitter
- c.1564+10C>T Single submitter
- c.1670+18C>T Single submitter
- c.1670+7A>C Single submitter
- c.1670+8G>A Single submitter
- c.1671-29A>G Single submitter
- c.1736+15A>G Single submitter
- c.1737-221C>T Single submitter
- c.180+160C>T Single submitter
- c.1817+8A>C Single submitter
- c.1818-15C>T Single submitter
- c.1988+114C>G Single submitter
- c.1988+11C>T Single submitter
- c.1988+17C>T Single submitter
- c.2067+250C>T Single submitter
- c.2068-273G>A Single submitter
- c.319+12C>A Single submitter
- c.320-165C>A Single submitter
- c.550+216C>G Single submitter
- c.550+277G>A Single submitter
- c.647+12G>C Single submitter
- c.647+32G>A Single submitter
- c.648-240C>T Single submitter
- c.784-15C>G Single submitter
- c.893-11G>C Single submitter
- c.893-14C>G Single submitter
- c.893-7C>A Single submitter
- p.Ala155= Single submitter
- p.Ala251Thr Single submitter Inborn genetic diseases
- p.Ala354Thr Single submitter Inborn genetic diseases
- p.Ala661= Single submitter
- p.Arg116Cys Single submitter ⚠
- p.Arg116Leu Single submitter ⚠
- p.Arg46= Single submitter
- p.Arg614Gln Single submitter Inborn genetic diseases
- p.Asn684Ser Single submitter Inborn genetic diseases
- p.Asp326= Single submitter
- p.Asp351= Single submitter
- p.Asp374= Single submitter
- p.Cys449= Single submitter
- p.Cys484= Single submitter
- p.Gln570= Single submitter
- p.Glu476= Single submitter
- p.Gly509= Single submitter
- p.Gly628= Single submitter
- p.His113= Single submitter
- p.His403= Single submitter
- p.His93= Single submitter
- p.Ile117= Single submitter
- p.Ile127= Single submitter
- p.Ile452= Single submitter
- p.Leu238= Single submitter
- p.Leu299= Single submitter
- p.Leu716= Single submitter
- p.Lys462= Single submitter
- p.Met371Leu Single submitter Inborn genetic diseases
- p.Pro101= Single submitter
- p.Pro168= Single submitter
- p.Pro353= Single submitter
- p.Pro405= Single submitter
- p.Pro549= Single submitter
- p.Pro688= Single submitter
- p.Pro732= Single submitter
- p.Ser160Cys Single submitter Inborn genetic diseases
- p.Ser580= Single submitter
- p.Thr150= Single submitter
- p.Thr287= Single submitter
- p.Thr356Ser Single submitter Inborn genetic diseases
- p.Thr446= Single submitter
- p.Thr561= Single submitter
- p.Thr586= Single submitter
- p.Tyr123Phe Single submitter Inborn genetic diseases
- p.Tyr84= Single submitter
- p.Val246Ile Single submitter Inborn genetic diseases
- p.Val674= Single submitter
- c.1988+9G>A No assertion criteria LSS-related disorder
Uncertain significance 148
- p.Ala399Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala73Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg129Gln Multiple submitters Inborn genetic diseases
- p.Arg260His Multiple submitters Inborn genetic diseases ⚠
- p.Arg347His Multiple submitters Inborn genetic diseases ⚠
- p.Arg547Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gln385Lys Multiple submitters ⚠
- p.Gly207Ala Multiple submitters ⚠
- p.Gly383Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly522Arg Multiple submitters cataract 44 ⚠
- p.Gly717fs Multiple submitters hypotrichosis 14
- p.Met215Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr158Cys Multiple submitters ⚠
- p.Val199Gly Multiple submitters Inborn genetic diseases
- p.Val537Met Multiple submitters Inborn genetic diseases
- c.1109+5G>A Single submitter
- c.1194+4C>T Single submitter
- c.1467+6G>A Single submitter Inborn genetic diseases
- c.15-5C>G Single submitter Inborn genetic diseases
- c.180+2dup Single submitter
- c.551-7_551-6delinsGC Single submitter
- c.648-7G>T Single submitter
- p.Ala198Thr Single submitter Inborn genetic diseases ⚠
- p.Ala198Val Single submitter Inborn genetic diseases
- p.Ala245Thr Single submitter ⚠
- p.Ala275Val Single submitter Inborn genetic diseases ⚠
- p.Ala390Thr Single submitter Inborn genetic diseases ⚠
- p.Ala460Thr Single submitter ⚠
- p.Ala53Val Single submitter Inborn genetic diseases ⚠
- p.Ala553Thr Single submitter ⚠
- p.Ala554Ser Single submitter Inborn genetic diseases ⚠
- p.Ala597Thr Single submitter Inborn genetic diseases ⚠
- p.Ala608Thr Single submitter Inborn genetic diseases ⚠
- p.Arg116His Single submitter cataract 44 ⚠
- p.Arg129Pro Single submitter Inborn genetic diseases ⚠
- p.Arg132Gln Single submitter Inborn genetic diseases ⚠
- p.Arg234Gly Single submitter ⚠
- p.Arg234Trp Single submitter ⚠
- p.Arg247Gln Single submitter Inborn genetic diseases ⚠
- p.Arg247Leu Single submitter Inborn genetic diseases ⚠
- p.Arg247Trp Single submitter Inborn genetic diseases
- p.Arg277Ser Single submitter hypotrichosis 14 ⚠
- p.Arg294Cys Single submitter Inborn genetic diseases ⚠
- p.Arg294His Single submitter ⚠
- p.Arg364Gly Single submitter Inborn genetic diseases ⚠
- p.Arg435Leu Single submitter ⚠
- p.Arg438His Single submitter ⚠
- p.Arg438Leu Single submitter Inborn genetic diseases ⚠
- p.Arg482Gln Single submitter Inborn genetic diseases ⚠
- p.Arg482Trp Single submitter Inborn genetic diseases ⚠
- p.Arg557Gln Single submitter ⚠
- p.Arg622Trp Single submitter Inborn genetic diseases ⚠
- p.Arg663Gln Single submitter ⚠
- p.Arg675Gln Single submitter Inborn genetic diseases ⚠
- p.Arg8Gly Single submitter alopecia-intellectual disability syndrome 4 ⚠
- p.Asn697Ser Single submitter Inborn genetic diseases
- p.Asp170Glu Single submitter Inborn genetic diseases ⚠
- p.Asp283Asn Single submitter Inborn genetic diseases ⚠
- p.Asp327Asn Single submitter Inborn genetic diseases ⚠
- p.Asp497Gly Single submitter Inborn genetic diseases ⚠
- p.Asp497His Single submitter Inborn genetic diseases
- p.Asp632Gly Single submitter Inborn genetic diseases ⚠
- p.Cys410Arg Single submitter cataract 44 ⚠
- p.Cys410Phe Single submitter Inborn genetic diseases ⚠
- p.Cys567Phe Single submitter Inborn genetic diseases ⚠
- p.Cys598Tyr Single submitter Inborn genetic diseases
- p.Gln135His Single submitter Inborn genetic diseases ⚠
- p.Gln317Arg Single submitter Inborn genetic diseases ⚠
- p.Gln359Arg Single submitter Inborn genetic diseases ⚠
- p.Gln385Glu Single submitter alopecia-intellectual disability syndrome 4
- p.Gln40Leu Single submitter Inborn genetic diseases ⚠
- p.Gln422Glu Single submitter Inborn genetic diseases ⚠
- p.Gln431Arg Single submitter Inborn genetic diseases ⚠
- p.Gln689Pro Single submitter Inborn genetic diseases ⚠
- p.Gln88Leu Single submitter Inborn genetic diseases
- p.Glu214Ala Single submitter ⚠
- p.Glu284Lys Single submitter Inborn genetic diseases ⚠
- p.Glu360Lys Single submitter Inborn genetic diseases ⚠
- p.Glu398= Single submitter alopecia-intellectual disability syndrome 4
- p.Glu406Lys Single submitter Inborn genetic diseases ⚠
- p.Glu476Gln Single submitter Inborn genetic diseases ⚠
- p.Glu565Gln Single submitter ⚠
- p.Gly11Arg Single submitter Inborn genetic diseases ⚠
- p.Gly11Val Single submitter Inborn genetic diseases ⚠
- p.Gly12Val Single submitter
- p.Gly139Asp Single submitter Inborn genetic diseases ⚠
- p.Gly139Cys Single submitter Inborn genetic diseases ⚠
- p.Gly207Val Single submitter Inborn genetic diseases ⚠
- p.Gly450Ser Single submitter ⚠
- p.Gly50Val Single submitter Inborn genetic diseases ⚠
- p.Gly658Val Single submitter Inborn genetic diseases ⚠
- p.His225Tyr Single submitter alopecia-intellectual disability syndrome 4
- p.His361Gln Single submitter Inborn genetic diseases ⚠
- p.His415Tyr Single submitter Inborn genetic diseases ⚠
- p.His473fs Single submitter
- p.His510Arg Single submitter ⚠
- p.His650Arg Single submitter cataract 44
- p.His664Tyr Single submitter ⚠
- p.His731Gln Single submitter Inborn genetic diseases ⚠
- p.Ile127Thr Single submitter ⚠
- p.Ile163Met Single submitter Inborn genetic diseases ⚠
- p.Ile323Thr Single submitter ⚠
- p.Ile335Val Single submitter Inborn genetic diseases ⚠
- p.Ile478Met Single submitter Inborn genetic diseases ⚠
- p.Ile649Met Single submitter ⚠
- p.Ile667Met Single submitter Inborn genetic diseases ⚠
- p.Ile710Thr Single submitter Inborn genetic diseases ⚠
- p.Leu156Phe Single submitter Inborn genetic diseases ⚠
- p.Leu229His Single submitter Inborn genetic diseases ⚠
- p.Leu311Pro Single submitter Inborn genetic diseases ⚠
- p.Leu345Phe Single submitter
- p.Leu461Phe Single submitter Inborn genetic diseases ⚠
- p.Leu515Val Single submitter Inborn genetic diseases ⚠
- p.Leu541Pro Single submitter ⚠
- p.Leu682Phe Single submitter Inborn genetic diseases ⚠
- p.Lys542Thr Single submitter Inborn genetic diseases ⚠
- p.Lys546Arg Single submitter Inborn genetic diseases ⚠
- p.Phe633Ser Single submitter ⚠
- p.Pro101Leu Single submitter ⚠
- p.Pro282Ser Single submitter Inborn genetic diseases ⚠
- p.Pro337= Single submitter
- p.Pro366Arg Single submitter ⚠
- p.Pro472Leu Single submitter Inborn genetic diseases ⚠
- p.Pro496Leu Single submitter ⚠
- p.Pro724Arg Single submitter Inborn genetic diseases ⚠
- p.Ser355Thr Single submitter Inborn genetic diseases ⚠
- p.Ser408Leu Single submitter Inborn genetic diseases ⚠
- p.Ser445Asn Single submitter Inborn genetic diseases ⚠
- p.Ser706Thr Single submitter Inborn genetic diseases ⚠
- p.Thr111Ala Single submitter Inborn genetic diseases ⚠
- p.Thr705Ala Single submitter Inborn genetic diseases ⚠
- p.Thr95Met Single submitter ⚠
- p.Trp205Arg Single submitter Inborn genetic diseases ⚠
- p.Trp387Cys Single submitter ⚠
- p.Trp629Cys Single submitter cataract 44 ⚠
- p.Trp714Leu Single submitter Inborn genetic diseases
- p.Tyr242His Single submitter Inborn genetic diseases ⚠
- p.Tyr303Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr723Ser Single submitter hypotrichosis 14 ⚠
- p.Tyr84Phe Single submitter Inborn genetic diseases ⚠
- p.Val114Met Single submitter Inborn genetic diseases ⚠
- p.Val280Met Single submitter Inborn genetic diseases ⚠
- p.Val346Met Single submitter Inborn genetic diseases ⚠
- p.Val350Met Single submitter Inborn genetic diseases ⚠
- p.Val85Met Single submitter Inborn genetic diseases ⚠
- p.Gln648Leu No assertion criteria
- p.Gln648Ter No assertion criteria
- p.Leu78Val No assertion criteria Developmental cataract ⚠