CRNKL1 — 76 ClinVar variants
All ClinVar germline CRNKL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 6 Likely benign · 67 Uncertain significance
Full CRNKL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CRNKL1 c.-29C>T Uncertain significance Single submitter
- CRNKL1 c.-35C>T Uncertain significance Single submitter
- CRNKL1 c.-71C>T Uncertain significance Single submitter
- CRNKL1 c.-82C>G Uncertain significance Single submitter
- CRNKL1 p.Ala344Thr Uncertain significance Single submitter
- CRNKL1 p.Arg174Cys Uncertain significance Single submitter
- CRNKL1 p.Arg223His Uncertain significance Single submitter
- CRNKL1 p.Arg223Pro Uncertain significance Single submitter
- CRNKL1 p.Arg235Trp Uncertain significance Single submitter
- CRNKL1 p.Arg272Gln Uncertain significance Single submitter
- CRNKL1 p.Arg315Trp Uncertain significance Single submitter
- CRNKL1 p.Arg338His Uncertain significance Single submitter
- CRNKL1 p.Arg371His Uncertain significance Single submitter
- CRNKL1 p.Arg465Gln Uncertain significance Single submitter
- CRNKL1 p.Arg465Gly Uncertain significance Single submitter
- CRNKL1 p.Arg510Cys Uncertain significance Single submitter
- CRNKL1 p.Arg52Gln Uncertain significance Single submitter
- CRNKL1 p.Arg540Trp Uncertain significance Single submitter
- CRNKL1 p.Arg544Gln Uncertain significance Single submitter
- CRNKL1 p.Arg598Gln Uncertain significance Single submitter
- CRNKL1 p.Asn149Ser Uncertain significance Single submitter
- CRNKL1 p.Asp109Gly Uncertain significance Single submitter
- CRNKL1 p.Asp631Gly Uncertain significance Single submitter
- CRNKL1 p.Asp683Ala Uncertain significance Single submitter
- CRNKL1 p.Asp683Asn Uncertain significance Single submitter
- CRNKL1 p.His677Arg Uncertain significance Single submitter
- CRNKL1 p.Ile115Thr Uncertain significance Single submitter
- CRNKL1 p.Ile204Val Uncertain significance Single submitter
- CRNKL1 p.Ile307Met Uncertain significance Single submitter
- CRNKL1 p.Leu8Pro Uncertain significance Single submitter
- CRNKL1 p.Met124Arg Uncertain significance Single submitter
- CRNKL1 p.Met660Thr Uncertain significance Single submitter
- CRNKL1 p.Phe411Cys Uncertain significance Single submitter
- CRNKL1 p.Pro646Thr Uncertain significance Single submitter
- CRNKL1 p.Ser633Thr Uncertain significance Single submitter
- CRNKL1 p.Thr545Met Uncertain significance Single submitter
- CRNKL1 p.Trp333Arg Uncertain significance Single submitter
- CRNKL1 p.Trp551Cys Uncertain significance Single submitter
- CRNKL1 p.Tyr104His Uncertain significance Single submitter
- CRNKL1 p.Tyr230His Uncertain significance Single submitter
- CRNKL1 p.Tyr502Asn Uncertain significance Single submitter
- CRNKL1 p.Tyr521His Uncertain significance Single submitter
- CRNKL1 p.Val613Ala Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- CRNKL1 c.-98G>A Uncertain significance Single submitter
- CRNKL1 p.Ala201Ser Uncertain significance Single submitter
- CRNKL1 p.Ala325Gly Uncertain significance Single submitter
- CRNKL1 p.Ala434Pro Likely benign Single submitter
- CRNKL1 p.Arg200Gly Uncertain significance Single submitter
- CRNKL1 p.Arg535Gln Uncertain significance Single submitter
- CRNKL1 p.Asn478Tyr Uncertain significance Single submitter
- CRNKL1 p.Asn73Asp Uncertain significance Single submitter
- CRNKL1 p.Asp389Tyr Uncertain significance Single submitter
- CRNKL1 p.Gln420Arg Uncertain significance Single submitter
- CRNKL1 p.Gln89Arg Uncertain significance Single submitter
- CRNKL1 p.Glu181Gly Uncertain significance Single submitter
- CRNKL1 p.Glu564Gly Uncertain significance Single submitter
- CRNKL1 p.Glu575Lys Uncertain significance Single submitter
- CRNKL1 p.Glu595Gln Uncertain significance Single submitter
- CRNKL1 p.Gly475Arg Uncertain significance Single submitter
- CRNKL1 p.Ile439Val Uncertain significance Single submitter
- CRNKL1 p.Ile495Thr Uncertain significance Single submitter
- CRNKL1 p.Leu279Val Uncertain significance Single submitter
- CRNKL1 p.Leu537Val Uncertain significance Single submitter
- CRNKL1 p.Met414Thr Uncertain significance Single submitter
- CRNKL1 p.Thr490Ala Likely benign Single submitter
- CRNKL1 p.Tyr379Phe Uncertain significance Single submitter
- CRNKL1 p.Tyr502Cys Uncertain significance Single submitter
- CRNKL1 p.Val360Leu Uncertain significance Single submitter
All CRNKL1 variants
Pathogenic 2
- p.Arg106Cys No assertion criteria microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia
- p.Arg106His No assertion criteria microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia
Likely pathogenic 1
- p.Arg140Gly Single submitter microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia
Likely benign 6
- c.1546-14C>G Single submitter
- c.51+2T>C Single submitter microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia
- p.Ala434Pro Single submitter ⚠
- p.Arg305Gln Single submitter
- p.Cys584Ser Single submitter
- p.Thr490Ala Single submitter ⚠
Uncertain significance 67
- c.-29C>T Single submitter ⚠
- c.-35C>T Single submitter ⚠
- c.-71C>T Single submitter ⚠
- c.-82C>G Single submitter ⚠
- c.-98G>A Single submitter ⚠
- c.*16C>G Single submitter
- p.Ala201Ser Single submitter ⚠
- p.Ala325Gly Single submitter ⚠
- p.Ala344Thr Single submitter ⚠
- p.Arg174Cys Single submitter ⚠
- p.Arg200Gly Single submitter ⚠
- p.Arg223His Single submitter ⚠
- p.Arg223Pro Single submitter ⚠
- p.Arg235Trp Single submitter ⚠
- p.Arg272Gln Single submitter ⚠
- p.Arg315Trp Single submitter ⚠
- p.Arg338His Single submitter ⚠
- p.Arg371His Single submitter ⚠
- p.Arg465Gln Single submitter ⚠
- p.Arg465Gly Single submitter ⚠
- p.Arg510Cys Single submitter ⚠
- p.Arg52Gln Single submitter ⚠
- p.Arg535Gln Single submitter ⚠
- p.Arg540Trp Single submitter ⚠
- p.Arg544Gln Single submitter ⚠
- p.Arg598Gln Single submitter ⚠
- p.Asn149Ser Single submitter ⚠
- p.Asn478Tyr Single submitter ⚠
- p.Asn73Asp Single submitter ⚠
- p.Asp109Gly Single submitter ⚠
- p.Asp389Tyr Single submitter ⚠
- p.Asp631Gly Single submitter ⚠
- p.Asp683Ala Single submitter ⚠
- p.Asp683Asn Single submitter ⚠
- p.Gln420Arg Single submitter ⚠
- p.Gln89Arg Single submitter ⚠
- p.Glu181Gly Single submitter ⚠
- p.Glu564Gly Single submitter ⚠
- p.Glu575Lys Single submitter ⚠
- p.Glu595Gln Single submitter ⚠
- p.Gly475Arg Single submitter ⚠
- p.His677Arg Single submitter ⚠
- p.Ile115Thr Single submitter ⚠
- p.Ile204Val Single submitter ⚠
- p.Ile307Met Single submitter ⚠
- p.Ile439Val Single submitter ⚠
- p.Ile495Thr Single submitter ⚠
- p.Leu279Val Single submitter ⚠
- p.Leu537Val Single submitter ⚠
- p.Leu8Pro Single submitter ⚠
- p.Met124Arg Single submitter ⚠
- p.Met414Thr Single submitter ⚠
- p.Met660Thr Single submitter ⚠
- p.Phe411Cys Single submitter ⚠
- p.Pro646Thr Single submitter ⚠
- p.Ser633Thr Single submitter ⚠
- p.Thr545Met Single submitter ⚠
- p.Trp333Arg Single submitter ⚠
- p.Trp551Cys Single submitter ⚠
- p.Tyr104His Single submitter ⚠
- p.Tyr230His Single submitter ⚠
- p.Tyr379Phe Single submitter ⚠
- p.Tyr502Asn Single submitter ⚠
- p.Tyr502Cys Single submitter ⚠
- p.Tyr521His Single submitter ⚠
- p.Val360Leu Single submitter ⚠
- p.Val613Ala Single submitter ⚠