SLF2 — 182 ClinVar variants
All ClinVar germline SLF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →
5 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 1 Benign · 20 Likely benign · 152 Uncertain significance
Full SLF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 151
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.
-
SLF2 p.Lys145Arg
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 135
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLF2 p.Gln756Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLF2 p.Leu441Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLF2 p.Ala139Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ala526Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ala644Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg1046Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg1046His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg1159Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg132His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg133Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg190Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg214Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg364Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg364His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg364Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg421Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg546Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg546Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg546Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg935Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asn1038His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asn194Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asn293Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asn455Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asn493Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asn587Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asn755His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asn755Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asn837Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp1070Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp1070Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp1075Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp189His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp207Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp46Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp532Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp532His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp532Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp655Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp865Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp878Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Cys511Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Gln259Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Gln445Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Gln634Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Gln769His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Glu504Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Glu691Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Glu881Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Gly1097Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Gly118Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Gly11Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Gly543Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Gly599Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Gly640Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Gly931Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.His1030Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.His26Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.His369Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.His377Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.His514Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile112Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile1147Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile1155Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLF2 p.Ile261Asn Uncertain significance Single submitter
-
SLF2 p.Ile261Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile279Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile353Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile353Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile375Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile426Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile693Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile703Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile776Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile83Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile927Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile972Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Leu486Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Leu597Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Leu884Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Leu953Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Lys159Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLF2 p.Lys337Glu Uncertain significance Single submitter
-
SLF2 p.Lys500Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Lys596Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Lys641Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Lys641Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Lys647Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Met116Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Met352Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Met676Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Met943Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Met969Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro134Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro171Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro171Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro227Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro227Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro23Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro297Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro29Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro354Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro474Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro480Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro556Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro564Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro577Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro844Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser109Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser14Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser213Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser230Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser278Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser410Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser448Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser454Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser464Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser506Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser512Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser568Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser651Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser907Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ser926Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Thr348Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Thr420Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Thr431Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Thr519Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Thr620Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Thr731Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Thr834Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Thr888Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Thr891Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Thr908Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Val104Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Val800Phe
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 15
The independent predictors disagree with each other — read with care.
-
SLF2 p.Ala1145Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Arg133Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp692Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asp819Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Cys1117Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Cys1158Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.His994Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Ile776Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Met813Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Met814Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro16Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Pro18Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Trp998Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Tyr1086Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLF2 p.Asn861Ile
Pathogenic
No assertion criteria
Atelis syndrome 1
All SLF2 variants
Pathogenic 5
- p.Arg190Ter No assertion criteria Atelis syndrome 1
- p.Arg336fs No assertion criteria Atelis syndrome 1
- p.Asn861Ile No assertion criteria Atelis syndrome 1 ⚠
- p.Asp783fs No assertion criteria Atelis syndrome 1
- p.Ser907fs No assertion criteria Atelis syndrome 1
Likely pathogenic 3
- c.915_915+2del Single submitter Atelis syndrome 1
- p.Pro572fs Single submitter Atelis syndrome 1
- p.Thr657fs Single submitter Atelis syndrome 1
Conflicting classifications of pathogenicity 1
- p.Lys145Arg Single submitter Inborn genetic diseases ⚠
Benign 1
- p.Tyr150Cys Single submitter
Likely benign 20
- c.2042+100G>A Single submitter
- c.3486+11G>A Single submitter Inborn genetic diseases
- p.Ala1085= Single submitter
- p.Arg1129= Single submitter
- p.Arg388Cys Single submitter
- p.Asn194Ser Single submitter Inborn genetic diseases
- p.Asn414Ser Single submitter Inborn genetic diseases
- p.Asn633Ser Single submitter
- p.Gln769= Single submitter
- p.Glu98Lys Single submitter Inborn genetic diseases
- p.Gly146Val Single submitter Inborn genetic diseases
- p.Ile295Val Single submitter Inborn genetic diseases
- p.Met436Ile Single submitter Inborn genetic diseases
- p.Pro285Leu Single submitter
- p.Pro662Ser Single submitter Inborn genetic diseases
- p.Ser239= Single submitter
- p.Thr461= Single submitter
- p.Thr794= Single submitter
- p.Val1041Ile Single submitter Inborn genetic diseases
- p.Ser907Pro No assertion criteria SLF2-related disorder
Uncertain significance 152
- p.Gln756Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu441Ile Multiple submitters Inborn genetic diseases ⚠
- c.2513-423A>G Single submitter
- c.3486+22T>G Single submitter Inborn genetic diseases
- p.Ala1145Thr Single submitter Inborn genetic diseases ⚠
- p.Ala139Val Single submitter Inborn genetic diseases ⚠
- p.Ala526Thr Single submitter Inborn genetic diseases ⚠
- p.Ala644Val Single submitter Inborn genetic diseases ⚠
- p.Arg1046Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1046His Single submitter Inborn genetic diseases ⚠
- p.Arg1159Gln Single submitter Inborn genetic diseases ⚠
- p.Arg132His Single submitter Inborn genetic diseases ⚠
- p.Arg133Gln Single submitter Inborn genetic diseases ⚠
- p.Arg133Trp Single submitter Inborn genetic diseases ⚠
- p.Arg190Gly Single submitter Inborn genetic diseases ⚠
- p.Arg214Lys Single submitter Inborn genetic diseases ⚠
- p.Arg364Cys Single submitter Inborn genetic diseases ⚠
- p.Arg364His Single submitter Inborn genetic diseases ⚠
- p.Arg364Ser Single submitter Inborn genetic diseases ⚠
- p.Arg421Ser Single submitter Inborn genetic diseases ⚠
- p.Arg546Cys Single submitter Inborn genetic diseases ⚠
- p.Arg546Leu Single submitter Inborn genetic diseases ⚠
- p.Arg546Ser Single submitter Inborn genetic diseases ⚠
- p.Arg935Gly Single submitter Inborn genetic diseases ⚠
- p.Asn1038His Single submitter Inborn genetic diseases ⚠
- p.Asn194Asp Single submitter Inborn genetic diseases ⚠
- p.Asn293Asp Single submitter Inborn genetic diseases ⚠
- p.Asn455Lys Single submitter Inborn genetic diseases ⚠
- p.Asn493Lys Single submitter Inborn genetic diseases ⚠
- p.Asn587Lys Single submitter Inborn genetic diseases ⚠
- p.Asn755His Single submitter Inborn genetic diseases ⚠
- p.Asn755Ser Single submitter Inborn genetic diseases ⚠
- p.Asn837Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1070Gly Single submitter Inborn genetic diseases ⚠
- p.Asp1070Val Single submitter Inborn genetic diseases ⚠
- p.Asp1075Glu Single submitter Inborn genetic diseases ⚠
- p.Asp189His Single submitter Inborn genetic diseases ⚠
- p.Asp207Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp46Glu Single submitter Inborn genetic diseases ⚠
- p.Asp532Asn Single submitter Inborn genetic diseases ⚠
- p.Asp532His Single submitter Inborn genetic diseases ⚠
- p.Asp532Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp655Gly Single submitter Inborn genetic diseases ⚠
- p.Asp692Glu Single submitter Inborn genetic diseases ⚠
- p.Asp819Ala Single submitter Inborn genetic diseases ⚠
- p.Asp865Asn Single submitter Inborn genetic diseases ⚠
- p.Asp878Glu Single submitter Inborn genetic diseases ⚠
- p.Cys1117Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys1158Arg Single submitter Inborn genetic diseases ⚠
- p.Cys511Arg Single submitter Inborn genetic diseases ⚠
- p.Gln259Arg Single submitter Inborn genetic diseases ⚠
- p.Gln445Glu Single submitter Inborn genetic diseases ⚠
- p.Gln634Glu Single submitter Inborn genetic diseases ⚠
- p.Gln769His Single submitter Inborn genetic diseases ⚠
- p.Glu504Lys Single submitter Inborn genetic diseases ⚠
- p.Glu691Lys Single submitter Inborn genetic diseases ⚠
- p.Glu881Lys Single submitter Inborn genetic diseases ⚠
- p.Gly1097Ser Single submitter Inborn genetic diseases ⚠
- p.Gly118Asp Single submitter Inborn genetic diseases ⚠
- p.Gly11Ala Single submitter Inborn genetic diseases ⚠
- p.Gly543Arg Single submitter Inborn genetic diseases ⚠
- p.Gly599Ser Single submitter Inborn genetic diseases ⚠
- p.Gly640Arg Single submitter Inborn genetic diseases ⚠
- p.Gly931Ser Single submitter Inborn genetic diseases ⚠
- p.His1030Tyr Single submitter Inborn genetic diseases ⚠
- p.His26Pro Single submitter Inborn genetic diseases ⚠
- p.His369Tyr Single submitter Inborn genetic diseases ⚠
- p.His377Tyr Single submitter Inborn genetic diseases ⚠
- p.His514Arg Single submitter Inborn genetic diseases ⚠
- p.His994Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile112Thr Single submitter Inborn genetic diseases ⚠
- p.Ile1147Val Single submitter Inborn genetic diseases ⚠
- p.Ile1155Val Single submitter Inborn genetic diseases ⚠
- p.Ile261Asn Single submitter ⚠
- p.Ile261Val Single submitter Inborn genetic diseases ⚠
- p.Ile279Val Single submitter Inborn genetic diseases ⚠
- p.Ile353Thr Single submitter Inborn genetic diseases ⚠
- p.Ile353Val Single submitter Inborn genetic diseases ⚠
- p.Ile375Val Single submitter Inborn genetic diseases ⚠
- p.Ile426Thr Single submitter Inborn genetic diseases ⚠
- p.Ile693Met Single submitter Inborn genetic diseases ⚠
- p.Ile703Val Single submitter Inborn genetic diseases ⚠
- p.Ile776Thr Single submitter Inborn genetic diseases ⚠
- p.Ile776Val Single submitter Inborn genetic diseases ⚠
- p.Ile83Val Single submitter Inborn genetic diseases ⚠
- p.Ile927Val Single submitter Inborn genetic diseases ⚠
- p.Ile972Leu Single submitter Inborn genetic diseases ⚠
- p.Leu486Pro Single submitter Inborn genetic diseases ⚠
- p.Leu597Val Single submitter Inborn genetic diseases ⚠
- p.Leu884Val Single submitter Inborn genetic diseases ⚠
- p.Leu953Arg Single submitter Inborn genetic diseases ⚠
- p.Lys159Glu Single submitter Inborn genetic diseases ⚠
- p.Lys337Glu Single submitter ⚠
- p.Lys500Glu Single submitter Inborn genetic diseases ⚠
- p.Lys596Arg Single submitter Inborn genetic diseases ⚠
- p.Lys641Arg Single submitter Inborn genetic diseases ⚠
- p.Lys641Met Single submitter Inborn genetic diseases ⚠
- p.Lys647Arg Single submitter Inborn genetic diseases ⚠
- p.Met116Thr Single submitter Inborn genetic diseases ⚠
- p.Met352Val Single submitter Inborn genetic diseases ⚠
- p.Met676Val Single submitter Inborn genetic diseases ⚠
- p.Met813Ile Single submitter Inborn genetic diseases ⚠
- p.Met814Ile Single submitter Inborn genetic diseases ⚠
- p.Met943Thr Single submitter Inborn genetic diseases ⚠
- p.Met969Val Single submitter Inborn genetic diseases ⚠
- p.Pro134Leu Single submitter Inborn genetic diseases ⚠
- p.Pro16Leu Single submitter Inborn genetic diseases ⚠
- p.Pro171Leu Single submitter Inborn genetic diseases ⚠
- p.Pro171Ser Single submitter Inborn genetic diseases ⚠
- p.Pro18Leu Single submitter Inborn genetic diseases ⚠
- p.Pro227Gln Single submitter Inborn genetic diseases ⚠
- p.Pro227Leu Single submitter Inborn genetic diseases ⚠
- p.Pro23Ala Single submitter Inborn genetic diseases ⚠
- p.Pro297Ser Single submitter Inborn genetic diseases ⚠
- p.Pro29Ser Single submitter Inborn genetic diseases ⚠
- p.Pro354Thr Single submitter Inborn genetic diseases ⚠
- p.Pro474Leu Single submitter Inborn genetic diseases ⚠
- p.Pro480Ala Single submitter Inborn genetic diseases ⚠
- p.Pro556Thr Single submitter Inborn genetic diseases ⚠
- p.Pro564Ser Single submitter Inborn genetic diseases ⚠
- p.Pro577Leu Single submitter Inborn genetic diseases ⚠
- p.Pro844Ser Single submitter Inborn genetic diseases ⚠
- p.Ser109Asn Single submitter Inborn genetic diseases ⚠
- p.Ser14Leu Single submitter Inborn genetic diseases ⚠
- p.Ser213Phe Single submitter Inborn genetic diseases ⚠
- p.Ser230Cys Single submitter Inborn genetic diseases ⚠
- p.Ser278Ile Single submitter Inborn genetic diseases ⚠
- p.Ser410Pro Single submitter Inborn genetic diseases ⚠
- p.Ser448Thr Single submitter Inborn genetic diseases ⚠
- p.Ser454Gly Single submitter Inborn genetic diseases ⚠
- p.Ser464Phe Single submitter Inborn genetic diseases ⚠
- p.Ser506Phe Single submitter Inborn genetic diseases ⚠
- p.Ser512Pro Single submitter Inborn genetic diseases ⚠
- p.Ser568Ile Single submitter Inborn genetic diseases ⚠
- p.Ser651Cys Single submitter Inborn genetic diseases ⚠
- p.Ser72Ter Single submitter
- p.Ser907Ala Single submitter Inborn genetic diseases ⚠
- p.Ser926Thr Single submitter Inborn genetic diseases ⚠
- p.Thr348Ile Single submitter Inborn genetic diseases ⚠
- p.Thr420Ala Single submitter Inborn genetic diseases ⚠
- p.Thr431Ile Single submitter Inborn genetic diseases ⚠
- p.Thr519Ala Single submitter Inborn genetic diseases ⚠
- p.Thr620Ile Single submitter Inborn genetic diseases ⚠
- p.Thr731Ala Single submitter Inborn genetic diseases ⚠
- p.Thr834Ala Single submitter Inborn genetic diseases ⚠
- p.Thr888Arg Single submitter Inborn genetic diseases ⚠
- p.Thr891Ser Single submitter Inborn genetic diseases ⚠
- p.Thr908Ala Single submitter Inborn genetic diseases ⚠
- p.Trp998Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr1086Ser Single submitter Inborn genetic diseases ⚠
- p.Val104Leu Single submitter Inborn genetic diseases ⚠
- p.Val800Phe Single submitter Inborn genetic diseases ⚠