CRISP2 — 38 ClinVar variants
All ClinVar germline CRISP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
4 Likely benign · 34 Uncertain significance
Full CRISP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CRISP2 p.Asn177Asp Uncertain significance Single submitter
- CRISP2 p.Cys155Arg Uncertain significance Single submitter
- CRISP2 p.Cys214Ser Uncertain significance Single submitter
- CRISP2 p.Gln139Arg Uncertain significance Single submitter
- CRISP2 p.Glu117Lys Uncertain significance Single submitter
- CRISP2 p.Glu39Asp Uncertain significance Single submitter
- CRISP2 p.Gly191Asp Uncertain significance Single submitter
- CRISP2 p.His44Pro Uncertain significance Single submitter
- CRISP2 p.Leu17Ser Uncertain significance Single submitter
- CRISP2 p.Pro188Ser Uncertain significance Single submitter
- CRISP2 p.Ser129Arg Uncertain significance Single submitter
- CRISP2 p.Ser212Asn Uncertain significance Single submitter
- CRISP2 p.Thr181Ala Uncertain significance Single submitter
- CRISP2 p.Thr69Met Uncertain significance Single submitter
- CRISP2 p.Trp107Arg Uncertain significance Single submitter
- CRISP2 p.Trp63Arg Uncertain significance Single submitter
- CRISP2 p.Val12Leu Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- CRISP2 p.Ala234Thr Uncertain significance Single submitter
- CRISP2 p.Arg178Thr Uncertain significance Single submitter
- CRISP2 p.Arg38Gly Uncertain significance Single submitter
- CRISP2 p.Asn76Ser Uncertain significance Single submitter
- CRISP2 p.Asp215His Uncertain significance Single submitter
- CRISP2 p.Leu13Met Uncertain significance Single submitter
- CRISP2 p.Leu9Met Uncertain significance Single submitter
- CRISP2 p.Lys60Asn Uncertain significance Single submitter
- CRISP2 p.Pro127Arg Uncertain significance Single submitter
- CRISP2 p.Pro127Thr Uncertain significance Single submitter
- CRISP2 p.Pro193Ala Uncertain significance Single submitter
- CRISP2 p.Thr32Ile Uncertain significance Single submitter
- CRISP2 p.Tyr123Cys Uncertain significance Single submitter
- CRISP2 p.Val122Leu Uncertain significance Single submitter
- CRISP2 p.Val134Leu Uncertain significance Single submitter
- CRISP2 p.Val166Ile Uncertain significance Single submitter
All CRISP2 variants
Likely benign 4
- c.66+6G>C Multiple submitters
- p.Pro53= Multiple submitters
- c.183+5G>A Single submitter
- p.Gly191Ser Single submitter
Uncertain significance 34
- c.515+968_604+1414del Single submitter megacolon
- p.Ala234Thr Single submitter ⚠
- p.Arg178Thr Single submitter ⚠
- p.Arg38Gly Single submitter ⚠
- p.Asn177Asp Single submitter ⚠
- p.Asn76Ser Single submitter ⚠
- p.Asp215His Single submitter ⚠
- p.Cys155Arg Single submitter ⚠
- p.Cys214Ser Single submitter ⚠
- p.Gln139Arg Single submitter ⚠
- p.Glu117Lys Single submitter ⚠
- p.Glu39Asp Single submitter ⚠
- p.Gly191Asp Single submitter ⚠
- p.His44Pro Single submitter ⚠
- p.Leu13Met Single submitter ⚠
- p.Leu17Ser Single submitter ⚠
- p.Leu9Met Single submitter ⚠
- p.Lys60Asn Single submitter ⚠
- p.Pro127Arg Single submitter ⚠
- p.Pro127Thr Single submitter ⚠
- p.Pro188Ser Single submitter ⚠
- p.Pro193Ala Single submitter ⚠
- p.Ser129Arg Single submitter ⚠
- p.Ser212Asn Single submitter ⚠
- p.Thr181Ala Single submitter ⚠
- p.Thr32Ile Single submitter ⚠
- p.Thr69Met Single submitter ⚠
- p.Trp107Arg Single submitter ⚠
- p.Trp63Arg Single submitter ⚠
- p.Tyr123Cys Single submitter ⚠
- p.Val122Leu Single submitter ⚠
- p.Val12Leu Single submitter ⚠
- p.Val134Leu Single submitter ⚠
- p.Val166Ile Single submitter ⚠