CHKA — 59 ClinVar variants
All ClinVar germline CHKA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
5 Likely pathogenic · 5 Likely benign · 49 Uncertain significance
Full CHKA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CHKA p.Glu230Lys
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
- CHKA p.Ala188Thr Uncertain significance Single submitter
- CHKA p.Ala385Thr Uncertain significance Single submitter
- CHKA p.Ala385Val Uncertain significance Single submitter
-
CHKA p.Arg204Leu
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
- CHKA p.Arg89Leu Uncertain significance Single submitter
- CHKA p.Asn388Lys Uncertain significance Single submitter
- CHKA p.Asp215Asn Uncertain significance Single submitter
- CHKA p.Gln166Pro Uncertain significance Single submitter
- CHKA p.Glu44Lys Uncertain significance Single submitter
- CHKA p.Gly25Ser Uncertain significance Single submitter
- CHKA p.Gly34Glu Uncertain significance Single submitter
- CHKA p.Ile271Met Uncertain significance Single submitter
- CHKA p.Leu179Pro Uncertain significance Single submitter
- CHKA p.Leu55Arg Uncertain significance Single submitter
- CHKA p.Leu63Pro Uncertain significance Single submitter
- CHKA p.Lys452Asn Uncertain significance Single submitter
- CHKA p.Met183Thr Uncertain significance Single submitter
- CHKA p.Pro246Ser Uncertain significance Single submitter
- CHKA p.Pro29Ser Uncertain significance Single submitter
- CHKA p.Pro384Ser Uncertain significance Single submitter
- CHKA p.Pro53Arg Uncertain significance Single submitter
- CHKA p.Pro59Leu Uncertain significance Single submitter
- CHKA p.Pro83Leu Uncertain significance Single submitter
- CHKA p.Thr7Ser Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- CHKA p.Ala27Thr Uncertain significance Single submitter
- CHKA p.Arg104Gly Uncertain significance Single submitter
- CHKA p.Arg212Gln Uncertain significance Single submitter
- CHKA p.Arg318Gln Likely benign Single submitter
- CHKA p.Asn281Ser Uncertain significance Single submitter
- CHKA p.Asn288Tyr Uncertain significance Single submitter
- CHKA p.Gln172Pro Uncertain significance Single submitter
- CHKA p.Gln71His Uncertain significance Single submitter
- CHKA p.Gly50Cys Uncertain significance Single submitter
- CHKA p.Leu326Met Uncertain significance Single submitter
- CHKA p.Lys273Asn Uncertain significance Single submitter
- CHKA p.Met240Ile Uncertain significance Single submitter
- CHKA p.Pro100Arg Uncertain significance Single submitter
- CHKA p.Pro58Ser Uncertain significance Single submitter
- CHKA p.Pro59Thr Uncertain significance Single submitter
-
CHKA p.Pro64Gln
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
- CHKA p.Pro64Ser Uncertain significance Single submitter
- CHKA p.Pro66Ser Likely benign Single submitter
- CHKA p.Pro72Ser Uncertain significance Single submitter
- CHKA p.Pro75Leu Uncertain significance Single submitter
- CHKA p.Pro85Ser Uncertain significance Single submitter
- CHKA p.Ser298Cys Uncertain significance Single submitter
- CHKA p.Ser321Cys Uncertain significance Single submitter
- CHKA p.Ser41Ile Uncertain significance Single submitter
All CHKA variants
Likely pathogenic 5
- p.Arg141Trp Single submitter microcephaly
- p.Cys6fs Single submitter microcephaly
- p.Gly344Ter Single submitter
- p.Phe341Leu Single submitter microcephaly
- p.Pro194Ser Single submitter microcephaly
Likely benign 5
- p.Ala102= Single submitter
- p.Arg318Gln Single submitter ⚠
- p.Ile430= Single submitter
- p.Pro66Ser Single submitter ⚠
- p.Pro70_Gln71insLeuPro Single submitter
Uncertain significance 49
- p.Glu230Lys Multiple submitters neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures ⚠
- p.63LP[3] Single submitter neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
- p.Ala188Thr Single submitter ⚠
- p.Ala27Thr Single submitter ⚠
- p.Ala385Thr Single submitter ⚠
- p.Ala385Val Single submitter ⚠
- p.Arg104Gly Single submitter ⚠
- p.Arg204Leu Single submitter neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures ⚠
- p.Arg212Gln Single submitter ⚠
- p.Arg89Leu Single submitter ⚠
- p.Asn281Ser Single submitter ⚠
- p.Asn288Tyr Single submitter ⚠
- p.Asn388Lys Single submitter ⚠
- p.Asp215Asn Single submitter ⚠
- p.Gln166Pro Single submitter ⚠
- p.Gln172Pro Single submitter ⚠
- p.Gln71His Single submitter ⚠
- p.Glu44Lys Single submitter ⚠
- p.Gly25Ser Single submitter ⚠
- p.Gly34Glu Single submitter ⚠
- p.Gly50Cys Single submitter ⚠
- p.Ile271Met Single submitter ⚠
- p.Leu179Pro Single submitter ⚠
- p.Leu326Met Single submitter ⚠
- p.Leu55Arg Single submitter ⚠
- p.Leu63Pro Single submitter ⚠
- p.Lys273Asn Single submitter ⚠
- p.Lys452Asn Single submitter ⚠
- p.Met183Thr Single submitter ⚠
- p.Met1Thr Single submitter microcephaly
- p.Met240Ile Single submitter ⚠
- p.Pro100Arg Single submitter ⚠
- p.Pro246Ser Single submitter ⚠
- p.Pro29Ser Single submitter ⚠
- p.Pro384Ser Single submitter ⚠
- p.Pro53Arg Single submitter ⚠
- p.Pro58Ser Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
- p.Pro59Thr Single submitter ⚠
- p.Pro64Gln Single submitter neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures ⚠
- p.Pro64Ser Single submitter ⚠
- p.Pro72Ser Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Pro83Leu Single submitter ⚠
- p.Pro85Ser Single submitter ⚠
- p.Ser298Cys Single submitter ⚠
- p.Ser321Cys Single submitter ⚠
- p.Ser41Ile Single submitter ⚠
- p.Thr7Ser Single submitter ⚠