KRT6A — 252 ClinVar variants
All ClinVar germline KRT6A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →
15 Pathogenic · 4 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 6 Conflicting · 32 Benign · 14 Benign/Likely benign · 48 Likely benign · 122 Uncertain significance
Full KRT6A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 113
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KRT6A p.Arg223Lys
Conflicting
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg232Gln
Conflicting
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg386His
Conflicting
Single submitter
pachyonychia congenita 3
- KRT6A p.Asn404Ser Conflicting Single submitter
-
KRT6A p.Gly113Asp
Conflicting
Single submitter
Inborn genetic diseases
-
KRT6A p.Gly88Arg
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KRT6A p.Ala403Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6A p.Arg375His
Uncertain significance
Multiple submitters
pachyonychia congenita 3
- KRT6A p.Gly111Asp Uncertain significance Multiple submitters
-
KRT6A p.Gly202Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6A p.Val282Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6A p.Val481Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6A p.Ala276Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ala288Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ala403Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ala408Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ala408Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ala423Val
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Ala457Pro Uncertain significance Single submitter
-
KRT6A p.Ala500Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ala54Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ala96Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg15Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg160Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg160Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg182Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Arg207Lys Uncertain significance Single submitter
-
KRT6A p.Arg232Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg326Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg375Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg386Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg466Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Asn188Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Asp323Val Uncertain significance Single submitter
-
KRT6A p.Asp396Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Gln216Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Gln340Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Glu137Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Glu266Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Glu361Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Glu380Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Glu428Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Glu447Gly Uncertain significance Single submitter
-
KRT6A p.Gly120Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Gly134Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Gly368Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Gly504Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Gly512Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Gly524Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Gly82Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Ile228Met Uncertain significance Single submitter
-
KRT6A p.Ile313Val
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Ile535Phe Uncertain significance Single submitter
-
KRT6A p.Ile72Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Leu221Phe Uncertain significance Single submitter
-
KRT6A p.Lys287Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Met452Thr Uncertain significance Single submitter
-
KRT6A p.Phe100Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Phe122Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Pro125Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Pro147Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ser227Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ser29Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ser317Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Ser495Gly Uncertain significance Single submitter
-
KRT6A p.Thr155Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Thr269Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Thr269Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Thr316Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Thr358Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Thr554Ala Uncertain significance Single submitter
- KRT6A p.Tyr448Asn Uncertain significance Single submitter
-
KRT6A p.Tyr551Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Val129Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Val274Gly Uncertain significance Single submitter
- KRT6A p.Val282Asp Uncertain significance Single submitter
-
KRT6A p.Val282Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Val398Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Val460Met
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Val484Ile Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- KRT6A p.Ala335Thr Benign Multiple submitters
-
KRT6A p.Arg16Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KRT6A p.Arg443Trp Benign Multiple submitters
-
KRT6A p.Lys400Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6A p.Lys550Asn
Uncertain significance
Multiple submitters
pachyonychia congenita 3
-
KRT6A p.Ala335Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ala345Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg234Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg234His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg260Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg260His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg59His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Asn220Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Asn327Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Asp373Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Cys402Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Gly107Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Gly121Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Gly510Val
Uncertain significance
Single submitter
pachyonychia congenita 3
-
KRT6A p.Gly522Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.His370Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ile167Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Ile218Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Lys438Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Met309Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Phe249Leu Benign Single submitter
-
KRT6A p.Phe33Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6A p.Ser561Arg Uncertain significance Single submitter
-
KRT6A p.Ser90Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Tyr91Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Val398Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6A p.Arg15His
Likely benign
No assertion criteria
KRT6A-related disorder
-
KRT6A p.Arg443Gln
Benign
No assertion criteria
KRT6A-related disorder
All KRT6A variants
Pathogenic 15
- p.Asn171Lys Multiple submitters KRT6A-related disorders
- p.Asn171Ser Multiple submitters pachyonychia congenita 3
- p.Asn172del Multiple submitters KRT6A-related disorders
- p.Glu163Lys Multiple submitters pachyonychia congenita 3
- p.Leu170Phe Multiple submitters pachyonychia congenita 3
- p.Ala463Pro Single submitter
- p.Asn171Asp Single submitter pachyonychia congenita 3
- p.Asn171His Single submitter
- p.Leu469Pro Single submitter pachyonychia congenita 3
- p.Phe177del Single submitter
- p.Tyr465Asp Single submitter
- p.Tyr465His Single submitter
- p.Leu469Arg No assertion criteria pachyonychia congenita 3
- p.Phe174Ser No assertion criteria pachyonychia congenita 3
- p.Phe174Val No assertion criteria pachyonychia congenita 3
Pathogenic/Likely pathogenic 4
- c.1460-1G>C Multiple submitters pachyonychia congenita 3
- p.Arg164Cys Multiple submitters KRT6A-related disorders
- p.Glu472Lys Multiple submitters pachyonychia congenita 3
- p.Ile462Asn Multiple submitters
Likely pathogenic 11
- c.1203+1G>A Single submitter pachyonychia congenita 3
- c.1460-2A>C Single submitter pachyonychia congenita 3
- c.817-2A>G Single submitter pachyonychia congenita 3
- p.Ala463Val Single submitter pachyonychia congenita 3
- p.Cys474fs Single submitter
- p.Glu417fs Single submitter
- p.Glu461Gly Single submitter pachyonychia congenita 3
- p.Glu461Lys Single submitter pachyonychia congenita 3
- p.Glu461Ter Single submitter pachyonychia congenita 3
- p.Ile167Asn Single submitter pachyonychia congenita 3
- p.Phe174Ile Single submitter pachyonychia congenita 3
Conflicting classifications of pathogenicity 6
- p.Arg223Lys Single submitter Inborn genetic diseases ⚠
- p.Arg232Gln Single submitter Inborn genetic diseases ⚠
- p.Arg386His Single submitter pachyonychia congenita 3 ⚠
- p.Asn404Ser Single submitter ⚠
- p.Gly113Asp Single submitter Inborn genetic diseases ⚠
- p.Gly88Arg Single submitter Inborn genetic diseases ⚠
Benign 32
- c.1424+18A>C Multiple submitters pachyonychia congenita 3
- c.1425-23C>T Multiple submitters
- c.540+9G>A Multiple submitters
- c.912+19C>T Multiple submitters
- p.Ala161= Multiple submitters pachyonychia congenita 3
- p.Ala335Thr Multiple submitters ⚠
- p.Arg415His Multiple submitters
- p.Arg443Trp Multiple submitters ⚠
- p.Asn21Ser Multiple submitters pachyonychia congenita 3
- p.Asp273= Multiple submitters pachyonychia congenita 3
- p.Ile486Val Multiple submitters
- p.Leu210Met Multiple submitters
- p.Lys189= Multiple submitters
- p.Thr552Ser Multiple submitters
- p.Val523Phe Multiple submitters
- c.1077+12G>T Single submitter
- c.1204-80_1204-79insTTC Single submitter
- c.1425-11C>G Single submitter
- c.755+7T>A Single submitter
- c.816+14G>A Single submitter
- p.Ala408Ser Single submitter
- p.Asp372= Single submitter
- p.Gly121= Single submitter
- p.Ile344Thr Single submitter pachyonychia congenita 3
- p.Ile462= Single submitter
- p.Lys272= Single submitter
- p.Phe249Leu Single submitter ⚠
- p.Pro131= Single submitter
- p.Pro154Ala Single submitter
- p.Ser307= Single submitter
- p.Val229= Single submitter
- p.Arg443Gln No assertion criteria KRT6A-related disorder ⚠
Benign/Likely benign 14
- c.1203+13A>G Multiple submitters pachyonychia congenita 3
- c.1204-18A>C Multiple submitters
- c.1204-3C>T Multiple submitters
- c.1204-5T>C Multiple submitters
- c.1204-8T>C Multiple submitters
- c.1459+7A>G Multiple submitters
- p.Ala423= Multiple submitters
- p.Asp293= Multiple submitters
- p.Asp459= Multiple submitters
- p.Cys402= Multiple submitters
- p.Glu165= Multiple submitters pachyonychia congenita 3
- p.Gly429Arg Multiple submitters
- p.Gly49= Multiple submitters
- p.Thr358= Multiple submitters
Likely benign 48
- p.Ala407= Multiple submitters
- p.Gln483= Multiple submitters
- p.Ile228= Multiple submitters
- p.Ile535Thr Multiple submitters
- p.Ser317= Multiple submitters
- p.Val36Ile Multiple submitters
- p.Val503= Multiple submitters
- p.Val523Ile Multiple submitters
- c.1077+8G>A Single submitter
- c.1078-11C>T Single submitter
- c.1203+11G>C Single submitter
- c.1203+16A>G Single submitter
- c.1425-5C>T Single submitter
- c.1459+17G>A Single submitter
- c.1459+18C>T Single submitter
- c.912+14C>T Single submitter
- p.Ala262= Single submitter
- p.Ala408= Single submitter
- p.Ala433= Single submitter
- p.Arg232= Single submitter
- p.Arg347= Single submitter
- p.Asn220= Single submitter
- p.Asn453= Single submitter
- p.Gly526= Single submitter
- p.Gly545= Single submitter
- p.Gly545Ser Single submitter Inborn genetic diseases
- p.Ile313= Single submitter
- p.Leu221Ile Single submitter
- p.Leu239= Single submitter
- p.Leu291= Single submitter
- p.Leu306= Single submitter
- p.Leu320= Single submitter
- p.Pro212= Single submitter
- p.Ser237= Single submitter
- p.Ser37= Single submitter
- p.Ser501= Single submitter
- p.Thr193= Single submitter
- p.Tyr341= Single submitter
- p.Val140Ile Single submitter Inborn genetic diseases
- p.Ala106= No assertion criteria KRT6A-related disorder
- p.Ala442= No assertion criteria KRT6A-related disorder
- p.Arg15His No assertion criteria KRT6A-related disorder ⚠
- p.Gly95= No assertion criteria KRT6A-related disorder
- p.Leu112= No assertion criteria KRT6A-related disorder
- p.Leu198= No assertion criteria KRT6A-related disorder
- p.Leu430= No assertion criteria KRT6A-related disorder
- p.Ser19Asn No assertion criteria KRT6A-related disorder
- p.Ser5Phe No assertion criteria KRT6A-related disorder
Uncertain significance 122
- p.Ala403Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg16Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg240Gly Multiple submitters Inborn genetic diseases
- p.Arg375His Multiple submitters pachyonychia congenita 3 ⚠
- p.Gly111Asp Multiple submitters ⚠
- p.Gly202Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly510Asp Multiple submitters Inborn genetic diseases
- p.Lys400Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys550Asn Multiple submitters pachyonychia congenita 3 ⚠
- p.Val282Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val481Ile Multiple submitters Inborn genetic diseases ⚠
- c.1078-10T>C Single submitter pachyonychia congenita 3
- c.1459+4A>T Single submitter
- c.912+3A>G Single submitter
- p.Ala276Val Single submitter Inborn genetic diseases ⚠
- p.Ala288Thr Single submitter Inborn genetic diseases ⚠
- p.Ala335Gly Single submitter Inborn genetic diseases ⚠
- p.Ala345Ser Single submitter Inborn genetic diseases ⚠
- p.Ala403Ser Single submitter Inborn genetic diseases ⚠
- p.Ala408Thr Single submitter Inborn genetic diseases ⚠
- p.Ala408Val Single submitter Inborn genetic diseases ⚠
- p.Ala410Val Single submitter Inborn genetic diseases
- p.Ala423Val Single submitter Inborn genetic diseases ⚠
- p.Ala457Pro Single submitter ⚠
- p.Ala500Gly Single submitter Inborn genetic diseases ⚠
- p.Ala54Gly Single submitter Inborn genetic diseases ⚠
- p.Ala96Thr Single submitter Inborn genetic diseases ⚠
- p.Arg15Cys Single submitter Inborn genetic diseases ⚠
- p.Arg160Gln Single submitter Inborn genetic diseases ⚠
- p.Arg160Trp Single submitter Inborn genetic diseases ⚠
- p.Arg182Gln Single submitter Inborn genetic diseases ⚠
- p.Arg207Lys Single submitter ⚠
- p.Arg232Trp Single submitter Inborn genetic diseases ⚠
- p.Arg234Cys Single submitter Inborn genetic diseases ⚠
- p.Arg234His Single submitter Inborn genetic diseases ⚠
- p.Arg260Cys Single submitter Inborn genetic diseases ⚠
- p.Arg260His Single submitter Inborn genetic diseases ⚠
- p.Arg326Cys Single submitter Inborn genetic diseases ⚠
- p.Arg349Gln Single submitter
- p.Arg375Cys Single submitter Inborn genetic diseases ⚠
- p.Arg386Leu Single submitter Inborn genetic diseases ⚠
- p.Arg466Cys Single submitter Inborn genetic diseases ⚠
- p.Arg59His Single submitter Inborn genetic diseases ⚠
- p.Asn188Thr Single submitter Inborn genetic diseases ⚠
- p.Asn220Thr Single submitter Inborn genetic diseases ⚠
- p.Asn327Lys Single submitter Inborn genetic diseases ⚠
- p.Asp303Gly Single submitter Inborn genetic diseases
- p.Asp323Val Single submitter ⚠
- p.Asp373Asn Single submitter Inborn genetic diseases ⚠
- p.Asp396Asn Single submitter Inborn genetic diseases ⚠
- p.Cys130Tyr Single submitter Inborn genetic diseases
- p.Cys402Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln216Arg Single submitter Inborn genetic diseases ⚠
- p.Gln340Arg Single submitter Inborn genetic diseases ⚠
- p.Gln439fs Single submitter
- p.Glu137Gln Single submitter Inborn genetic diseases ⚠
- p.Glu137Gly Single submitter Inborn genetic diseases
- p.Glu211Gly Single submitter Inborn genetic diseases
- p.Glu266Gln Single submitter Inborn genetic diseases ⚠
- p.Glu361Lys Single submitter Inborn genetic diseases ⚠
- p.Glu380Ala Single submitter Inborn genetic diseases ⚠
- p.Glu428Lys Single submitter Inborn genetic diseases ⚠
- p.Glu447Gly Single submitter ⚠
- p.Gly107Ser Single submitter Inborn genetic diseases ⚠
- p.Gly120Val Single submitter Inborn genetic diseases ⚠
- p.Gly121Ser Single submitter Inborn genetic diseases ⚠
- p.Gly134Asp Single submitter Inborn genetic diseases ⚠
- p.Gly241Asn Single submitter
- p.Gly368Asp Single submitter Inborn genetic diseases ⚠
- p.Gly504Ser Single submitter Inborn genetic diseases ⚠
- p.Gly510Val Single submitter pachyonychia congenita 3 ⚠
- p.Gly512Arg Single submitter Inborn genetic diseases ⚠
- p.Gly522Asp Single submitter Inborn genetic diseases ⚠
- p.Gly524Arg Single submitter Inborn genetic diseases ⚠
- p.Gly536Arg Single submitter Inborn genetic diseases
- p.Gly82Ser Single submitter Inborn genetic diseases ⚠
- p.His312Asp Single submitter Inborn genetic diseases
- p.His370Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile167Met Single submitter Inborn genetic diseases ⚠
- p.Ile218Leu Single submitter Inborn genetic diseases ⚠
- p.Ile228Met Single submitter ⚠
- p.Ile313Val Single submitter Inborn genetic diseases ⚠
- p.Ile535Phe Single submitter ⚠
- p.Ile72Thr Single submitter Inborn genetic diseases ⚠
- p.Leu221Phe Single submitter ⚠
- p.Lys287Arg Single submitter Inborn genetic diseases ⚠
- p.Lys438Arg Single submitter Inborn genetic diseases ⚠
- p.Lys560_Ser561delinsAsnCys Single submitter
- p.Met309Ile Single submitter Inborn genetic diseases ⚠
- p.Met452Thr Single submitter ⚠
- p.Phe100Val Single submitter Inborn genetic diseases ⚠
- p.Phe122Ser Single submitter Inborn genetic diseases ⚠
- p.Phe33Ser Single submitter Inborn genetic diseases ⚠
- p.Pro125Leu Single submitter Inborn genetic diseases ⚠
- p.Pro131Thr Single submitter Inborn genetic diseases
- p.Pro147Ser Single submitter Inborn genetic diseases ⚠
- p.Pro212Leu Single submitter Inborn genetic diseases
- p.Ser227Asn Single submitter Inborn genetic diseases ⚠
- p.Ser29Arg Single submitter Inborn genetic diseases ⚠
- p.Ser317Phe Single submitter Inborn genetic diseases ⚠
- p.Ser495Gly Single submitter ⚠
- p.Ser561Arg Single submitter ⚠
- p.Ser90Asn Single submitter Inborn genetic diseases ⚠
- p.Thr139Ile Single submitter
- p.Thr155Ser Single submitter Inborn genetic diseases ⚠
- p.Thr269Ala Single submitter Inborn genetic diseases ⚠
- p.Thr269Ile Single submitter Inborn genetic diseases ⚠
- p.Thr316Arg Single submitter Inborn genetic diseases ⚠
- p.Thr358Asn Single submitter Inborn genetic diseases ⚠
- p.Thr554Ala Single submitter ⚠
- p.Tyr448Asn Single submitter ⚠
- p.Tyr551Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr562Ter Single submitter
- p.Tyr91Asn Single submitter Inborn genetic diseases ⚠
- p.Val129Leu Single submitter Inborn genetic diseases ⚠
- p.Val274Gly Single submitter ⚠
- p.Val282Asp Single submitter ⚠
- p.Val282Gly Single submitter Inborn genetic diseases ⚠
- p.Val398Ile Single submitter Inborn genetic diseases ⚠
- p.Val398Phe Single submitter Inborn genetic diseases ⚠
- p.Val460Met Single submitter Inborn genetic diseases ⚠
- p.Val484Ile Single submitter ⚠