CAST — 260 ClinVar variants
All ClinVar germline CAST variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
6 Pathogenic · 8 Likely pathogenic · 7 Conflicting · 88 Benign · 52 Likely benign · 99 Uncertain significance
Full CAST gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CAST p.Arg393His
Conflicting
Single submitter
Inborn genetic diseases
-
CAST p.Arg461Leu
Conflicting
Single submitter
Inborn genetic diseases
-
CAST p.Glu224Asp
Conflicting
Single submitter
Inborn genetic diseases
-
CAST p.Ile190Val
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CAST p.Ala329Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CAST p.Asp160Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CAST p.Gln731His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CAST p.Glu296Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CAST p.Ile274Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CAST p.Leu586Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CAST p.Ala113Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ala166Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ala348Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ala427Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ala636Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ala775Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Arg641Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Arg641His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Asn771Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Asp399Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Asp460Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Asp729Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Glu117Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Glu252Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Glu473Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Glu581Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CAST p.Gly138Arg Uncertain significance Single submitter
-
CAST p.Gly248Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CAST p.Gly510Ser Uncertain significance Single submitter
-
CAST p.His703Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ile315Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CAST p.Ile395Val Uncertain significance Single submitter
-
CAST p.Leu247Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Leu611Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Lys165Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Phe613Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Pro311Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Pro426Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Pro439Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Pro503Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ser196Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ser196Ile
Uncertain significance
Single submitter
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
-
CAST p.Ser644Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Thr272Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Thr633Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Thr87Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Val678Leu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 51
The independent predictors disagree with each other — read with care.
-
CAST p.Ala403Pro
Benign
Multiple submitters
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
-
CAST p.Ser231Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CAST p.Ala386Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ala480Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CAST p.Ala519Thr Uncertain significance Single submitter
-
CAST p.Ala545Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CAST p.Ala620Val Benign Single submitter
-
CAST p.Arg384Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Arg461Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CAST p.Arg550Cys Uncertain significance Single submitter
-
CAST p.Arg550Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Arg550His
Conflicting
Single submitter
Inborn genetic diseases
-
CAST p.Asp458Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Asp533Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Asp563His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Asp592Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Glu375Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Glu547Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ile244Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ile418Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ile452Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CAST p.Leu392Phe Uncertain significance Single submitter
-
CAST p.Leu618Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Leu650Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Leu690Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Lys229Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Lys295Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Lys363Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Lys444Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CAST p.Lys612Arg Benign Single submitter
-
CAST p.Lys672Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Lys681Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Lys787Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Met369Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Phe322Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Pro263Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Pro308Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Pro468Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Pro505Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Pro561Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Pro713Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Pro733Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ser306Leu
Conflicting
Single submitter
Inborn genetic diseases
- CAST p.Ser378Leu Conflicting Single submitter
-
CAST p.Ser603Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Ser623Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Thr261Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CAST p.Thr633Met Uncertain significance Single submitter
- CAST p.Thr643Ile Uncertain significance Single submitter
-
CAST p.Thr696Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAST p.Val265Asp
Uncertain significance
Single submitter
Inborn genetic diseases
All CAST variants
Pathogenic 6
- p.Gln152Ter Single submitter
- p.Gly232Ter Single submitter
- p.Val678fs Single submitter
- p.Ile244fs No assertion criteria peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- p.Lys183Ter No assertion criteria peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- p.Val625fs No assertion criteria peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Likely pathogenic 8
- c.1626+1G>A Single submitter
- c.630+1G>T Single submitter peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- c.630+2T>C Single submitter peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- p.Gln499Ter Single submitter CAST-related disorder
- p.Gln628Ter Single submitter peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- p.Gln97Ter Single submitter peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- p.Glu568Ter Single submitter CAST-related disorder
- p.Leu392fs Single submitter peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Conflicting classifications of pathogenicity 7
- p.Arg393His Single submitter Inborn genetic diseases ⚠
- p.Arg461Leu Single submitter Inborn genetic diseases ⚠
- p.Arg550His Single submitter Inborn genetic diseases ⚠
- p.Glu224Asp Single submitter Inborn genetic diseases ⚠
- p.Ile190Val Single submitter Inborn genetic diseases ⚠
- p.Ser306Leu Single submitter Inborn genetic diseases ⚠
- p.Ser378Leu Single submitter ⚠
Benign 88
- c.1525-106G>A Multiple submitters peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- c.1711-10C>T Multiple submitters
- c.2037+26_2037+28del Multiple submitters
- c.630+12C>G Multiple submitters
- p.Ala403Pro Multiple submitters peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome ⚠
- p.Ala481Thr Multiple submitters peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- p.Cys491Ser Multiple submitters peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- p.Gln56= Multiple submitters peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- p.Ser306= Multiple submitters
- p.Thr428Met Multiple submitters
- c.1012-15T>C Single submitter
- c.1099-22C>G Single submitter
- c.1099-50G>A Single submitter
- c.1200+242A>G Single submitter
- c.1200+82C>T Single submitter
- c.1201-221G>T Single submitter
- c.1284+272C>T Single submitter
- c.1332+20dup Single submitter
- c.1332+242C>T Single submitter
- c.1332+246A>T Single submitter
- c.139-254A>G Single submitter
- c.1428+114G>A Single submitter
- c.1524+232C>G Single submitter
- c.1525-125C>G Single submitter
- c.1525-253C>T Single submitter
- c.1525-45G>A Single submitter
- c.1626+111A>G Single submitter
- c.1711-137C>T Single submitter
- c.1711-158A>G Single submitter
- c.1761+24G>A Single submitter
- c.1833+14T>C Single submitter
- c.1833+31T>C Single submitter
- c.1833+83C>T Single submitter
- c.1834-130T>C Single submitter
- c.1834-83T>G Single submitter
- c.1932+138G>A Single submitter
- c.1932+68G>A Single submitter
- c.1933-161G>C Single submitter
- c.1933-3C>T Single submitter
- c.2037+15A>G Single submitter
- c.2037+191A>G Single submitter
- c.2037+197G>A Single submitter
- c.2037+27_2037+28del Single submitter
- c.2037+38dup Single submitter
- c.2038-237_2038-234del Single submitter
- c.210+11T>C Single submitter
- c.210+216G>T Single submitter
- c.2130+110C>T Single submitter
- c.2130+225= Single submitter
- c.2130+95A>G Single submitter
- c.2131-32A>G Single submitter
- c.2175+166C>T Single submitter
- c.2176-22G>A Single submitter
- c.2268+96C>G Single submitter
- c.2341-146G>T Single submitter
- c.2341-19G>A Single submitter
- c.2341-326C>T Single submitter
- c.270+237TTGTT[6] Single submitter
- c.270+8G>A Single submitter
- c.336+54C>T Single submitter
- c.337-236T>C Single submitter
- c.378+268A>G Single submitter
- c.378+9T>C Single submitter
- c.379-142A>T Single submitter
- c.379-224A>C Single submitter
- c.549+207A>G Single submitter
- c.549+233C>T Single submitter
- c.550-118C>A Single submitter
- c.630+88C>T Single submitter
- c.631-35A>G Single submitter
- c.631-96A>G Single submitter
- c.699+213A>T Single submitter
- c.699+219AAAC[2] Single submitter
- c.75+157GCAGGTGGCT[3] Single submitter
- c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC Single submitter
- c.75+190C>T Single submitter
- c.75+271G>A Single submitter
- c.76-220T>C Single submitter
- p.Ala620Val Single submitter ⚠
- p.Asp321= Single submitter
- p.Asp414Glu Single submitter
- p.Ile309Leu Single submitter
- p.Lys612Arg Single submitter ⚠
- p.Pro186= Single submitter
- p.Pro727= Single submitter
- p.Ser231= Single submitter
- p.Thr259Ala Single submitter
- p.Val221= Single submitter
Likely benign 52
- p.Ala775= Multiple submitters
- p.Arg461Gln Multiple submitters Inborn genetic diseases
- c.1012-16G>A Single submitter
- c.1012-19T>G Single submitter
- c.1099-19G>T Single submitter
- c.1099-6T>C Single submitter
- c.1284+10T>C Single submitter
- c.138+13A>G Single submitter
- c.1428+17A>T Single submitter
- c.1429-17del Single submitter
- c.1429-5C>T Single submitter
- c.1525-5T>A Single submitter
- c.1626+10A>G Single submitter
- c.1711-12C>T Single submitter
- c.1762-19C>G Single submitter
- c.1833+15_1833+16del Single submitter
- c.1933-11T>G Single submitter
- c.2037+14_2037+28del Single submitter
- c.2037+27_2037+28insTAAAAAAAAAAAAAAAAAAAAA Single submitter
- c.211-5T>C Single submitter
- c.2176-5C>G Single submitter
- c.270+19_270+33del Single submitter
- c.631-15C>A Single submitter
- c.76-17T>G Single submitter
- c.798+11A>G Single submitter
- p.Ala386= Single submitter
- p.Ala484= Single submitter
- p.Arg384= Single submitter
- p.Asn159= Single submitter
- p.Asp652= Single submitter
- p.Gln385Lys Single submitter Inborn genetic diseases
- p.Gln585= Single submitter
- p.Glu172= Single submitter
- p.His686= Single submitter
- p.Leu318= Single submitter
- p.Leu374= Single submitter
- p.Pro207= Single submitter
- p.Pro505= Single submitter
- p.Ser124= Single submitter
- p.Ser216= Single submitter
- p.Ser326= Single submitter
- p.Ser378= Single submitter
- p.Ser646Asn Single submitter
- p.Ser764= Single submitter
- p.Thr259= Single submitter
- p.Thr323= Single submitter
- p.Thr383Ser Single submitter Inborn genetic diseases
- c.879+10A>G No assertion criteria CAST-related disorder
- p.Cys496= No assertion criteria CAST-related disorder
- p.Leu741= No assertion criteria CAST-related disorder
- p.Lys165= No assertion criteria CAST-related disorder
- p.Ser487= No assertion criteria CAST-related disorder
Uncertain significance 99
- p.Ala329Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp160Val Multiple submitters Inborn genetic diseases ⚠
- p.Gln731His Multiple submitters Inborn genetic diseases ⚠
- p.Glu296Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ile274Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu586Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser231Leu Multiple submitters Inborn genetic diseases ⚠
- c.1200+4C>T Single submitter
- c.1200+911C>A Single submitter peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- c.138+8410A>G Single submitter peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- c.2341-6T>C Single submitter
- p.Ala113Pro Single submitter Inborn genetic diseases ⚠
- p.Ala166Gly Single submitter Inborn genetic diseases ⚠
- p.Ala348Ser Single submitter Inborn genetic diseases ⚠
- p.Ala386Gly Single submitter Inborn genetic diseases ⚠
- p.Ala427Val Single submitter Inborn genetic diseases ⚠
- p.Ala480Gly Single submitter Inborn genetic diseases ⚠
- p.Ala519Thr Single submitter ⚠
- p.Ala545Ser Single submitter Inborn genetic diseases ⚠
- p.Ala636Gly Single submitter Inborn genetic diseases ⚠
- p.Ala775Val Single submitter Inborn genetic diseases ⚠
- p.Ala77Gly Single submitter Inborn genetic diseases
- p.Arg384Trp Single submitter Inborn genetic diseases ⚠
- p.Arg461Trp Single submitter Inborn genetic diseases ⚠
- p.Arg550Cys Single submitter ⚠
- p.Arg550Gly Single submitter Inborn genetic diseases ⚠
- p.Arg641Cys Single submitter Inborn genetic diseases ⚠
- p.Arg641His Single submitter Inborn genetic diseases ⚠
- p.Asn771Ser Single submitter Inborn genetic diseases ⚠
- p.Asp399Asn Single submitter Inborn genetic diseases ⚠
- p.Asp458Val Single submitter Inborn genetic diseases ⚠
- p.Asp460Glu Single submitter Inborn genetic diseases ⚠
- p.Asp533Asn Single submitter Inborn genetic diseases ⚠
- p.Asp563His Single submitter Inborn genetic diseases ⚠
- p.Asp592Asn Single submitter Inborn genetic diseases ⚠
- p.Asp729Asn Single submitter Inborn genetic diseases ⚠
- p.Gln56Arg Single submitter
- p.Glu117Lys Single submitter Inborn genetic diseases ⚠
- p.Glu252Asp Single submitter Inborn genetic diseases ⚠
- p.Glu25Ala Single submitter
- p.Glu337= Single submitter
- p.Glu375Lys Single submitter Inborn genetic diseases ⚠
- p.Glu473Gly Single submitter Inborn genetic diseases ⚠
- p.Glu547Lys Single submitter Inborn genetic diseases ⚠
- p.Glu581Asp Single submitter Inborn genetic diseases ⚠
- p.Gly138Arg Single submitter ⚠
- p.Gly248Ala Single submitter Inborn genetic diseases ⚠
- p.Gly510Ser Single submitter ⚠
- p.His703Arg Single submitter Inborn genetic diseases ⚠
- p.Ile244Arg Single submitter Inborn genetic diseases ⚠
- p.Ile315Val Single submitter Inborn genetic diseases ⚠
- p.Ile395Val Single submitter ⚠
- p.Ile418Leu Single submitter Inborn genetic diseases ⚠
- p.Ile452Thr Single submitter Inborn genetic diseases ⚠
- p.Leu247Ser Single submitter Inborn genetic diseases ⚠
- p.Leu392Phe Single submitter ⚠
- p.Leu611Pro Single submitter Inborn genetic diseases ⚠
- p.Leu618Phe Single submitter Inborn genetic diseases ⚠
- p.Leu650Pro Single submitter Inborn genetic diseases ⚠
- p.Leu690Pro Single submitter Inborn genetic diseases ⚠
- p.Lys121del Single submitter
- p.Lys165Asn Single submitter Inborn genetic diseases ⚠
- p.Lys229Glu Single submitter Inborn genetic diseases ⚠
- p.Lys295Arg Single submitter Inborn genetic diseases ⚠
- p.Lys363Arg Single submitter Inborn genetic diseases ⚠
- p.Lys444Arg Single submitter Inborn genetic diseases ⚠
- p.Lys672Thr Single submitter Inborn genetic diseases ⚠
- p.Lys681Glu Single submitter Inborn genetic diseases ⚠
- p.Lys787Asn Single submitter Inborn genetic diseases ⚠
- p.Met369Arg Single submitter Inborn genetic diseases ⚠
- p.Phe322Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe613Leu Single submitter Inborn genetic diseases ⚠
- p.Pro263Thr Single submitter Inborn genetic diseases ⚠
- p.Pro308Arg Single submitter Inborn genetic diseases ⚠
- p.Pro311Leu Single submitter Inborn genetic diseases ⚠
- p.Pro426Ser Single submitter Inborn genetic diseases ⚠
- p.Pro439Ala Single submitter Inborn genetic diseases ⚠
- p.Pro468Ser Single submitter Inborn genetic diseases ⚠
- p.Pro503Ala Single submitter Inborn genetic diseases ⚠
- p.Pro505Leu Single submitter Inborn genetic diseases ⚠
- p.Pro561Leu Single submitter Inborn genetic diseases ⚠
- p.Pro713Arg Single submitter Inborn genetic diseases ⚠
- p.Pro733Arg Single submitter Inborn genetic diseases ⚠
- p.Ser196Asn Single submitter Inborn genetic diseases ⚠
- p.Ser196Ile Single submitter peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome ⚠
- p.Ser603Pro Single submitter Inborn genetic diseases ⚠
- p.Ser623Cys Single submitter Inborn genetic diseases ⚠
- p.Ser644Leu Single submitter Inborn genetic diseases ⚠
- p.Ser74Cys Single submitter Inborn genetic diseases
- p.Thr261Pro Single submitter Inborn genetic diseases ⚠
- p.Thr272Ile Single submitter Inborn genetic diseases ⚠
- p.Thr428= Single submitter peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- p.Thr633Met Single submitter ⚠
- p.Thr633Ser Single submitter Inborn genetic diseases ⚠
- p.Thr643Ile Single submitter ⚠
- p.Thr696Ala Single submitter Inborn genetic diseases ⚠
- p.Thr87Lys Single submitter Inborn genetic diseases ⚠
- p.Val265Asp Single submitter Inborn genetic diseases ⚠
- p.Val678Leu Single submitter Inborn genetic diseases ⚠