CASP14 — 88 ClinVar variants
All ClinVar germline CASP14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
1 Conflicting · 20 Benign · 1 Benign/Likely benign · 7 Likely benign · 59 Uncertain significance
Full CASP14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 lean, ClinVar uncertain 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CASP14 p.Met150Lys Uncertain significance Multiple submitters
- CASP14 p.Ala111Thr Uncertain significance Single submitter
-
CASP14 p.Ala111Val
Uncertain significance
Single submitter
ichthyosis, congenital, autosomal recessive 12
- CASP14 p.Ala177Thr Uncertain significance Single submitter
- CASP14 p.Ala71Val Uncertain significance Single submitter
- CASP14 p.Ala88Asp Uncertain significance Single submitter
- CASP14 p.Arg121Gln Uncertain significance Single submitter
- CASP14 p.Arg137Met Uncertain significance Single submitter
- CASP14 p.Arg238Gln Uncertain significance Single submitter
- CASP14 p.Arg238Pro Uncertain significance Single submitter
- CASP14 p.Arg29Gln Uncertain significance Single submitter
- CASP14 p.Arg29Trp Uncertain significance Single submitter
- CASP14 p.Arg91Thr Uncertain significance Single submitter
- CASP14 p.Asp37Gly Uncertain significance Single submitter
- CASP14 p.Gln182Arg Uncertain significance Single submitter
-
CASP14 p.Glu110Lys
Uncertain significance
Single submitter
ichthyosis, congenital, autosomal recessive 12
- CASP14 p.Glu59Gly Uncertain significance Single submitter
- CASP14 p.Glu98Gly Uncertain significance Single submitter
- CASP14 p.Glu9Lys Uncertain significance Single submitter
- CASP14 p.Gly90Arg Uncertain significance Single submitter
- CASP14 p.Ile128Asn Uncertain significance Single submitter
- CASP14 p.Ile159Val Uncertain significance Single submitter
- CASP14 p.Leu218Val Uncertain significance Single submitter
- CASP14 p.Leu36Val Uncertain significance Single submitter
- CASP14 p.Lys96Gln Uncertain significance Single submitter
- CASP14 p.Met150Leu Uncertain significance Single submitter
- CASP14 p.Met52Thr Uncertain significance Single submitter
- CASP14 p.Pro78Thr Uncertain significance Single submitter
- CASP14 p.Thr163Ile Uncertain significance Single submitter
- CASP14 p.Thr227Met Uncertain significance Single submitter
- CASP14 p.Thr57Ser Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- CASP14 p.Ala82Ser Uncertain significance Single submitter
- CASP14 p.Arg133Gln Uncertain significance Single submitter
- CASP14 p.Arg18Cys Uncertain significance Single submitter
- CASP14 p.Arg18His Uncertain significance Single submitter
- CASP14 p.Arg211Trp Uncertain significance Single submitter
- CASP14 p.Arg212Trp Uncertain significance Single submitter
- CASP14 p.Arg236Gln Uncertain significance Single submitter
- CASP14 p.Arg54Thr Uncertain significance Single submitter
- CASP14 p.Arg75Pro Uncertain significance Single submitter
- CASP14 p.Arg75Trp Uncertain significance Single submitter
- CASP14 p.Asp193Asn Uncertain significance Single submitter
- CASP14 p.Glu49Lys Uncertain significance Single submitter
- CASP14 p.Gly140Ala Uncertain significance Single submitter
- CASP14 p.Gly222Glu Uncertain significance Single submitter
- CASP14 p.Ile159Met Uncertain significance Single submitter
- CASP14 p.Ile202Thr Uncertain significance Single submitter
- CASP14 p.Ile202Val Uncertain significance Single submitter
- CASP14 p.Ile231Met Uncertain significance Single submitter
- CASP14 p.Leu191Val Uncertain significance Single submitter
- CASP14 p.Leu205Phe Uncertain significance Single submitter
- CASP14 p.Phe195Cys Uncertain significance Single submitter
- CASP14 p.Ser15Leu Uncertain significance Single submitter
- CASP14 p.Thr171Met Uncertain significance Single submitter
- CASP14 p.Tyr240Phe Uncertain significance Single submitter
- CASP14 p.Val168Ile Uncertain significance Single submitter
- CASP14 p.Val172Ile Uncertain significance Single submitter
-
CASP14 p.Arg44Trp
Benign
No assertion criteria
CASP14-related disorder
All CASP14 variants
Conflicting classifications of pathogenicity 1
- p.Asp154fs Single submitter ichthyosis, congenital, autosomal recessive 12
Benign 20
- c.404-151A>C Multiple submitters
- c.404-271T>C Multiple submitters
- c.520+77T>C Multiple submitters
- c.625-34G>T Multiple submitters
- c.-46-101T>A Multiple submitters
- c.-46-259A>G Multiple submitters
- c.-46-262C>T Multiple submitters
- c.*188A>G Multiple submitters
- c.*228G>T Multiple submitters
- c.*247T>C Multiple submitters
- c.*97C>T Multiple submitters
- p.Leu23= Multiple submitters
- p.Leu65Val Multiple submitters
- c.28-173T>C Single submitter
- c.28-271T>G Single submitter
- c.624+224G>C Single submitter
- c.625-118A>G Single submitter
- p.Thr190= Single submitter
- p.Arg44Trp No assertion criteria CASP14-related disorder ⚠
- p.Arg75= No assertion criteria CASP14-related disorder
Benign/Likely benign 1
- p.Ala58= Multiple submitters
Likely benign 7
Uncertain significance 59
- p.Met150Lys Multiple submitters ⚠
- p.Ala111Thr Single submitter ⚠
- p.Ala111Val Single submitter ichthyosis, congenital, autosomal recessive 12 ⚠
- p.Ala177Thr Single submitter ⚠
- p.Ala71Val Single submitter ⚠
- p.Ala82Ser Single submitter ⚠
- p.Ala88Asp Single submitter ⚠
- p.Arg121Gln Single submitter ⚠
- p.Arg121Ter Single submitter
- p.Arg133Gln Single submitter ⚠
- p.Arg133Ter Single submitter
- p.Arg137Met Single submitter ⚠
- p.Arg18Cys Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg211Trp Single submitter ⚠
- p.Arg212Trp Single submitter ⚠
- p.Arg236Gln Single submitter ⚠
- p.Arg238Gln Single submitter ⚠
- p.Arg238Pro Single submitter ⚠
- p.Arg29Gln Single submitter ⚠
- p.Arg29Trp Single submitter ⚠
- p.Arg54Thr Single submitter ⚠
- p.Arg75Pro Single submitter ⚠
- p.Arg75Trp Single submitter ⚠
- p.Arg91Thr Single submitter ⚠
- p.Asp193Asn Single submitter ⚠
- p.Asp37Gly Single submitter ⚠
- p.Gln182Arg Single submitter ⚠
- p.Glu110Lys Single submitter ichthyosis, congenital, autosomal recessive 12 ⚠
- p.Glu49Lys Single submitter ⚠
- p.Glu59Gly Single submitter ⚠
- p.Glu98Gly Single submitter ⚠
- p.Glu9Lys Single submitter ⚠
- p.Gly140Ala Single submitter ⚠
- p.Gly222Glu Single submitter ⚠
- p.Gly90Arg Single submitter ⚠
- p.Ile128Asn Single submitter ⚠
- p.Ile159Met Single submitter ⚠
- p.Ile159Val Single submitter ⚠
- p.Ile202Thr Single submitter ⚠
- p.Ile202Val Single submitter ⚠
- p.Ile231Met Single submitter ⚠
- p.Leu191Val Single submitter ⚠
- p.Leu205Phe Single submitter ⚠
- p.Leu218Val Single submitter ⚠
- p.Leu36Val Single submitter ⚠
- p.Lys96Gln Single submitter ⚠
- p.Met150Leu Single submitter ⚠
- p.Met52Thr Single submitter ⚠
- p.Phe195Cys Single submitter ⚠
- p.Pro78Thr Single submitter ⚠
- p.Ser15Leu Single submitter ⚠
- p.Thr163Ile Single submitter ⚠
- p.Thr171Met Single submitter ⚠
- p.Thr227Met Single submitter ⚠
- p.Thr57Ser Single submitter ⚠
- p.Tyr240Phe Single submitter ⚠
- p.Val168Ile Single submitter ⚠
- p.Val172Ile Single submitter ⚠