CRISPLD1 — 75 ClinVar variants
All ClinVar germline CRISPLD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
1 Benign · 1 Likely benign · 73 Uncertain significance
Full CRISPLD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CRISPLD1 p.Ala20Val Uncertain significance Single submitter
- CRISPLD1 p.Ala410Val Uncertain significance Single submitter
- CRISPLD1 p.Arg19Gly Uncertain significance Single submitter
- CRISPLD1 p.Arg222Gln Uncertain significance Single submitter
- CRISPLD1 p.Arg420His Uncertain significance Single submitter
- CRISPLD1 p.Arg455Pro Uncertain significance Single submitter
- CRISPLD1 p.Arg469Lys Uncertain significance Single submitter
- CRISPLD1 p.Asn238Lys Uncertain significance Single submitter
- CRISPLD1 p.Asn28Ser Uncertain significance Single submitter
- CRISPLD1 p.Asn368Ser Uncertain significance Single submitter
- CRISPLD1 p.Asp246Val Uncertain significance Single submitter
- CRISPLD1 p.Asp59Glu Uncertain significance Single submitter
- CRISPLD1 p.Asp89Glu Uncertain significance Single submitter
- CRISPLD1 p.Asp89Val Uncertain significance Single submitter
- CRISPLD1 p.Cys103Arg Uncertain significance Single submitter
- CRISPLD1 p.Cys3Arg Uncertain significance Single submitter
- CRISPLD1 p.Cys413Tyr Uncertain significance Single submitter
- CRISPLD1 p.Cys445Ser Uncertain significance Single submitter
- CRISPLD1 p.Gln262His Uncertain significance Single submitter
- CRISPLD1 p.Gln302Arg Uncertain significance Single submitter
- CRISPLD1 p.Glu296Ala Uncertain significance Single submitter
- CRISPLD1 p.Gly434Glu Uncertain significance Single submitter
- CRISPLD1 p.His270Asp Uncertain significance Single submitter
- CRISPLD1 p.His428Tyr Uncertain significance Single submitter
- CRISPLD1 p.His450Tyr Uncertain significance Single submitter
- CRISPLD1 p.His69Arg Uncertain significance Single submitter
- CRISPLD1 p.Ile195Met Uncertain significance Single submitter
- CRISPLD1 p.Ile21Val Uncertain significance Single submitter
- CRISPLD1 p.Ile341Val Uncertain significance Single submitter
- CRISPLD1 p.Ile355Val Uncertain significance Single submitter
- CRISPLD1 p.Ile365Met Uncertain significance Single submitter
- CRISPLD1 p.Leu31Phe Uncertain significance Single submitter
- CRISPLD1 p.Leu68Phe Uncertain significance Single submitter
- CRISPLD1 p.Lys242Arg Uncertain significance Single submitter
- CRISPLD1 p.Lys492Arg Uncertain significance Single submitter
- CRISPLD1 p.Met17Val Uncertain significance Single submitter
- CRISPLD1 p.Phe16Cys Uncertain significance Single submitter
- CRISPLD1 p.Pro130Leu Uncertain significance Single submitter
- CRISPLD1 p.Ser111Thr Uncertain significance Single submitter
- CRISPLD1 p.Ser145Thr Uncertain significance Single submitter
- CRISPLD1 p.Thr175Ala Uncertain significance Single submitter
- CRISPLD1 p.Thr58Ala Uncertain significance Single submitter
- CRISPLD1 p.Thr79Ala Uncertain significance Single submitter
- CRISPLD1 p.Trp196Arg Uncertain significance Single submitter
- CRISPLD1 p.Tyr127Cys Uncertain significance Single submitter
- CRISPLD1 p.Tyr148His Uncertain significance Single submitter
- CRISPLD1 p.Tyr460Phe Uncertain significance Single submitter
- CRISPLD1 p.Val172Met Uncertain significance Single submitter
- CRISPLD1 p.Val203Met Uncertain significance Single submitter
- CRISPLD1 p.Val466Ala Uncertain significance Single submitter
- CRISPLD1 p.Val496Glu Uncertain significance Single submitter
- CRISPLD1 p.Val76Leu Uncertain significance Single submitter
- CRISPLD1 p.Val90Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- CRISPLD1 p.Ala340Ser Uncertain significance Single submitter
- CRISPLD1 p.Asn478His Uncertain significance Single submitter
- CRISPLD1 p.Asp301Glu Uncertain significance Single submitter
- CRISPLD1 p.Asp301Val Uncertain significance Single submitter
- CRISPLD1 p.Cys303Arg Uncertain significance Single submitter
- CRISPLD1 p.Gly108Ala Uncertain significance Single submitter
- CRISPLD1 p.Gly214Ser Uncertain significance Single submitter
- CRISPLD1 p.Gly305Glu Uncertain significance Single submitter
- CRISPLD1 p.His412Arg Uncertain significance Single submitter
- CRISPLD1 p.Ile444Val Uncertain significance Single submitter
- CRISPLD1 p.Leu9His Uncertain significance Single submitter
- CRISPLD1 p.Met189Val Uncertain significance Single submitter
- CRISPLD1 p.Ser383Thr Uncertain significance Single submitter
- CRISPLD1 p.Ser443Gly Uncertain significance Single submitter
- CRISPLD1 p.Ser475Thr Uncertain significance Single submitter
- CRISPLD1 p.Tyr248Cys Uncertain significance Single submitter
All CRISPLD1 variants
Benign 1
- c.868+7C>A Multiple submitters
Likely benign 1
- p.Arg272Gln Single submitter
Uncertain significance 73
- p.Ala20Val Single submitter ⚠
- p.Ala340Ser Single submitter ⚠
- p.Ala410Val Single submitter ⚠
- p.Arg19Gly Single submitter ⚠
- p.Arg222Gln Single submitter ⚠
- p.Arg420His Single submitter ⚠
- p.Arg455Pro Single submitter ⚠
- p.Arg469Lys Single submitter ⚠
- p.Asn238Lys Single submitter ⚠
- p.Asn238Ser Single submitter
- p.Asn28Ser Single submitter ⚠
- p.Asn368Ser Single submitter ⚠
- p.Asn478His Single submitter ⚠
- p.Asp143His Single submitter
- p.Asp246Val Single submitter ⚠
- p.Asp301Glu Single submitter ⚠
- p.Asp301Val Single submitter ⚠
- p.Asp59Glu Single submitter ⚠
- p.Asp89Glu Single submitter ⚠
- p.Asp89Val Single submitter ⚠
- p.Cys103Arg Single submitter ⚠
- p.Cys303Arg Single submitter ⚠
- p.Cys3Arg Single submitter ⚠
- p.Cys413Tyr Single submitter ⚠
- p.Cys445Ser Single submitter ⚠
- p.Gln262His Single submitter ⚠
- p.Gln302Arg Single submitter ⚠
- p.Glu296Ala Single submitter ⚠
- p.Gly108Ala Single submitter ⚠
- p.Gly214Ser Single submitter ⚠
- p.Gly305Glu Single submitter ⚠
- p.Gly434Glu Single submitter ⚠
- p.Gly491Glu Single submitter
- p.His270Asp Single submitter ⚠
- p.His412Arg Single submitter ⚠
- p.His428Tyr Single submitter ⚠
- p.His450Tyr Single submitter ⚠
- p.His69Arg Single submitter ⚠
- p.Ile195Met Single submitter ⚠
- p.Ile21Val Single submitter ⚠
- p.Ile341Val Single submitter ⚠
- p.Ile355Val Single submitter ⚠
- p.Ile365Met Single submitter ⚠
- p.Ile444Val Single submitter ⚠
- p.Leu31Phe Single submitter ⚠
- p.Leu36Trp Single submitter
- p.Leu68Phe Single submitter ⚠
- p.Leu9His Single submitter ⚠
- p.Lys242Arg Single submitter ⚠
- p.Lys492Arg Single submitter ⚠
- p.Met17Val Single submitter ⚠
- p.Met189Val Single submitter ⚠
- p.Phe16Cys Single submitter ⚠
- p.Pro130Leu Single submitter ⚠
- p.Ser111Thr Single submitter ⚠
- p.Ser145Thr Single submitter ⚠
- p.Ser383Thr Single submitter ⚠
- p.Ser443Gly Single submitter ⚠
- p.Ser475Thr Single submitter ⚠
- p.Thr175Ala Single submitter ⚠
- p.Thr58Ala Single submitter ⚠
- p.Thr79Ala Single submitter ⚠
- p.Trp196Arg Single submitter ⚠
- p.Tyr127Cys Single submitter ⚠
- p.Tyr148His Single submitter ⚠
- p.Tyr248Cys Single submitter ⚠
- p.Tyr460Phe Single submitter ⚠
- p.Val172Met Single submitter ⚠
- p.Val203Met Single submitter ⚠
- p.Val466Ala Single submitter ⚠
- p.Val496Glu Single submitter ⚠
- p.Val76Leu Single submitter ⚠
- p.Val90Ile Single submitter ⚠