CRISPLD2 — 154 ClinVar variants
All ClinVar germline CRISPLD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
12 Benign · 20 Likely benign · 122 Uncertain significance
Full CRISPLD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 93
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CRISPLD2 p.Ala116Thr Uncertain significance Single submitter
- CRISPLD2 p.Ala317Thr Uncertain significance Single submitter
- CRISPLD2 p.Ala415Ser Uncertain significance Single submitter
- CRISPLD2 p.Ala74Ser Uncertain significance Single submitter
- CRISPLD2 p.Ala94Pro Uncertain significance Single submitter
- CRISPLD2 p.Arg153Gly Uncertain significance Single submitter
- CRISPLD2 p.Arg181Gln Uncertain significance Single submitter
- CRISPLD2 p.Arg216Gln Uncertain significance Single submitter
- CRISPLD2 p.Arg216Trp Uncertain significance Single submitter
- CRISPLD2 p.Arg333Cys Uncertain significance Single submitter
- CRISPLD2 p.Arg485Gln Uncertain significance Single submitter
- CRISPLD2 p.Arg491Gln Uncertain significance Single submitter
- CRISPLD2 p.Arg53Thr Uncertain significance Single submitter
- CRISPLD2 p.Asn147His Uncertain significance Single submitter
- CRISPLD2 p.Asn199Ser Uncertain significance Single submitter
- CRISPLD2 p.Asn205Ser Uncertain significance Single submitter
- CRISPLD2 p.Asn205Thr Uncertain significance Single submitter
- CRISPLD2 p.Asn451Ser Uncertain significance Single submitter
- CRISPLD2 p.Asn76Asp Uncertain significance Single submitter
- CRISPLD2 p.Asp247Glu Uncertain significance Single submitter
- CRISPLD2 p.Asp456Asn Uncertain significance Single submitter
- CRISPLD2 p.Asp463His Uncertain significance Single submitter
- CRISPLD2 p.Asp55Tyr Uncertain significance Single submitter
- CRISPLD2 p.Gln266His Uncertain significance Single submitter
- CRISPLD2 p.Gln368Pro Uncertain significance Single submitter
- CRISPLD2 p.Gln96His Uncertain significance Single submitter
- CRISPLD2 p.Glu145Lys Uncertain significance Single submitter
- CRISPLD2 p.Glu260Val Uncertain significance Single submitter
- CRISPLD2 p.Glu420Lys Uncertain significance Single submitter
- CRISPLD2 p.Gly102Arg Uncertain significance Single submitter
- CRISPLD2 p.Gly156Arg Uncertain significance Single submitter
- CRISPLD2 p.Gly174Ser Uncertain significance Single submitter
- CRISPLD2 p.Gly226Arg Uncertain significance Single submitter
- CRISPLD2 p.Gly22Ala Uncertain significance Single submitter
- CRISPLD2 p.Gly321Val Uncertain significance Single submitter
- CRISPLD2 p.Gly68Ser Uncertain significance Single submitter
- CRISPLD2 p.His127Arg Uncertain significance Single submitter
- CRISPLD2 p.His262Asp Uncertain significance Single submitter
- CRISPLD2 p.Ile173Thr Uncertain significance Single submitter
- CRISPLD2 p.Ile439Met Uncertain significance Single submitter
- CRISPLD2 p.Leu106Val Uncertain significance Single submitter
- CRISPLD2 p.Leu114Pro Uncertain significance Single submitter
- CRISPLD2 p.Leu13Met Uncertain significance Single submitter
- CRISPLD2 p.Leu323Val Uncertain significance Single submitter
- CRISPLD2 p.Leu35Phe Uncertain significance Single submitter
- CRISPLD2 p.Leu389Phe Uncertain significance Single submitter
- CRISPLD2 p.Lys276Arg Uncertain significance Single submitter
- CRISPLD2 p.Lys293Glu Uncertain significance Single submitter
- CRISPLD2 p.Lys316Glu Uncertain significance Single submitter
- CRISPLD2 p.Lys344Met Uncertain significance Single submitter
- CRISPLD2 p.Lys403Asn Uncertain significance Single submitter
- CRISPLD2 p.Met183Ile Uncertain significance Single submitter
- CRISPLD2 p.Met61Val Uncertain significance Single submitter
- CRISPLD2 p.Met77Leu Uncertain significance Single submitter
- CRISPLD2 p.Phe320Ser Uncertain significance Single submitter
- CRISPLD2 p.Pro141Leu Uncertain significance Single submitter
- CRISPLD2 p.Pro157Ser Uncertain significance Single submitter
- CRISPLD2 p.Pro242Leu Uncertain significance Single submitter
- CRISPLD2 p.Pro256Leu Uncertain significance Single submitter
- CRISPLD2 p.Pro267Leu Uncertain significance Single submitter
- CRISPLD2 p.Pro267Ser Uncertain significance Single submitter
- CRISPLD2 p.Pro272Arg Uncertain significance Single submitter
- CRISPLD2 p.Pro309Leu Uncertain significance Single submitter
- CRISPLD2 p.Pro52Thr Uncertain significance Single submitter
- CRISPLD2 p.Ser279Phe Uncertain significance Single submitter
- CRISPLD2 p.Ser327Gly Uncertain significance Single submitter
- CRISPLD2 p.Ser43Phe Uncertain significance Single submitter
- CRISPLD2 p.Ser450Gly Uncertain significance Single submitter
- CRISPLD2 p.Ser45Pro Uncertain significance Single submitter
- CRISPLD2 p.Ser478Thr Uncertain significance Single submitter
- CRISPLD2 p.Ser89Thr Uncertain significance Single submitter
- CRISPLD2 p.Thr179Ser Uncertain significance Single submitter
- CRISPLD2 p.Thr239Ser Uncertain significance Single submitter
- CRISPLD2 p.Thr241Ser Uncertain significance Single submitter
- CRISPLD2 p.Thr273Ile Uncertain significance Single submitter
- CRISPLD2 p.Thr278Asn Uncertain significance Single submitter
- CRISPLD2 p.Thr436Ile Uncertain significance Single submitter
- CRISPLD2 p.Thr483Ser Uncertain significance Single submitter
- CRISPLD2 p.Trp149Ser Uncertain significance Single submitter
- CRISPLD2 p.Tyr121Asn Uncertain significance Single submitter
- CRISPLD2 p.Tyr212Cys Uncertain significance Single submitter
- CRISPLD2 p.Tyr38His Uncertain significance Single submitter
- CRISPLD2 p.Tyr392His Uncertain significance Single submitter
- CRISPLD2 p.Tyr468Cys Uncertain significance Single submitter
- CRISPLD2 p.Val17Gly Uncertain significance Single submitter
- CRISPLD2 p.Val263Ile Uncertain significance Single submitter
- CRISPLD2 p.Val269Ala Uncertain significance Single submitter
- CRISPLD2 p.Val269Met Uncertain significance Single submitter
- CRISPLD2 p.Val288Ile Uncertain significance Single submitter
- CRISPLD2 p.Val462Met Uncertain significance Single submitter
- CRISPLD2 p.Val469Leu Uncertain significance Single submitter
- CRISPLD2 p.Val469Met Uncertain significance Single submitter
-
CRISPLD2 p.Gln69His
Uncertain significance
No assertion criteria
CRISPLD2-related disorder
Predictors split 25
The independent predictors disagree with each other — read with care.
- CRISPLD2 p.Ala334Thr Uncertain significance Single submitter
- CRISPLD2 p.Ala446Thr Uncertain significance Single submitter
- CRISPLD2 p.Ala446Val Uncertain significance Single submitter
- CRISPLD2 p.Arg181Trp Uncertain significance Single submitter
- CRISPLD2 p.Arg230Trp Uncertain significance Single submitter
- CRISPLD2 p.Arg352Gly Uncertain significance Single submitter
- CRISPLD2 p.Arg48His Uncertain significance Single submitter
- CRISPLD2 p.Arg491Trp Uncertain significance Single submitter
- CRISPLD2 p.Asn113Ser Uncertain significance Single submitter
- CRISPLD2 p.Asn192Thr Uncertain significance Single submitter
- CRISPLD2 p.Asp342Tyr Uncertain significance Single submitter
- CRISPLD2 p.Gly366Ser Uncertain significance Single submitter
- CRISPLD2 p.His117Tyr Uncertain significance Single submitter
- CRISPLD2 p.His127Tyr Uncertain significance Single submitter
- CRISPLD2 p.Lys295Asn Uncertain significance Single submitter
- CRISPLD2 p.Lys361Asn Uncertain significance Single submitter
- CRISPLD2 p.Met284Ile Likely benign Single submitter
- CRISPLD2 p.Phe428Leu Uncertain significance Single submitter
- CRISPLD2 p.Pro426Leu Uncertain significance Single submitter
- CRISPLD2 p.Thr351Ile Uncertain significance Single submitter
- CRISPLD2 p.Val185Leu Uncertain significance Single submitter
- CRISPLD2 p.Val384Leu Uncertain significance Single submitter
- CRISPLD2 p.Val444Met Uncertain significance Single submitter
- CRISPLD2 p.Val457Met Uncertain significance Single submitter
- CRISPLD2 p.Val459Met Uncertain significance Single submitter
All CRISPLD2 variants
Benign 12
- c.1113-5A>C Multiple submitters
- p.Ala434Gly Multiple submitters
- p.Asn431Ser Multiple submitters
- p.Glu402= Multiple submitters
- p.Ile173= Multiple submitters
- p.Met270Val Multiple submitters
- c.914+24_914+59del Single submitter
- p.Gly227= Single submitter
- c.1157-9T>C No assertion criteria CRISPLD2-related disorder
- c.709+7A>G No assertion criteria CRISPLD2-related disorder
- p.Asp343= No assertion criteria CRISPLD2-related disorder
- p.Ser327= No assertion criteria CRISPLD2-related disorder
Likely benign 20
- p.Ser144Arg Multiple submitters
- c.1305+21A>G Single submitter
- c.1305+27A>G Single submitter
- p.Met284Ile Single submitter ⚠
- p.Met380Thr Single submitter
- c.1305+7A>C No assertion criteria CRISPLD2-related disorder
- c.360-7C>T No assertion criteria CRISPLD2-related disorder
- c.915-5G>A No assertion criteria CRISPLD2-related disorder
- p.Ala446= No assertion criteria CRISPLD2-related disorder
- p.Arg122= No assertion criteria CRISPLD2-related disorder
- p.Asn192= No assertion criteria CRISPLD2-related disorder
- p.Asn27= No assertion criteria CRISPLD2-related disorder
- p.Cys391= No assertion criteria CRISPLD2-related disorder
- p.Glu191= No assertion criteria CRISPLD2-related disorder
- p.Gly102= No assertion criteria CRISPLD2-related disorder
- p.Gly22Asp No assertion criteria CRISPLD2-related disorder
- p.Ile439Val No assertion criteria CRISPLD2-related disorder
- p.Phe359= No assertion criteria CRISPLD2-related disorder
- p.Pro124= No assertion criteria CRISPLD2-related disorder
- p.Val360= No assertion criteria CRISPLD2-related disorder
Uncertain significance 122
- p.Ala116Thr Single submitter ⚠
- p.Ala317Thr Single submitter ⚠
- p.Ala334Thr Single submitter ⚠
- p.Ala415Ser Single submitter ⚠
- p.Ala446Thr Single submitter ⚠
- p.Ala446Val Single submitter ⚠
- p.Ala74Ser Single submitter ⚠
- p.Ala94Pro Single submitter ⚠
- p.Arg122His Single submitter
- p.Arg153Gly Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg181Trp Single submitter ⚠
- p.Arg216Gln Single submitter ⚠
- p.Arg216Trp Single submitter ⚠
- p.Arg230Trp Single submitter ⚠
- p.Arg333Cys Single submitter ⚠
- p.Arg352Gly Single submitter ⚠
- p.Arg485Gln Single submitter ⚠
- p.Arg48His Single submitter ⚠
- p.Arg491Gln Single submitter ⚠
- p.Arg491Trp Single submitter ⚠
- p.Arg53Thr Single submitter ⚠
- p.Asn113Ser Single submitter ⚠
- p.Asn147His Single submitter ⚠
- p.Asn192Thr Single submitter ⚠
- p.Asn199Ser Single submitter ⚠
- p.Asn205Ser Single submitter ⚠
- p.Asn205Thr Single submitter ⚠
- p.Asn451Ser Single submitter ⚠
- p.Asn76Asp Single submitter ⚠
- p.Asp247Glu Single submitter ⚠
- p.Asp342Tyr Single submitter ⚠
- p.Asp456Asn Single submitter ⚠
- p.Asp463His Single submitter ⚠
- p.Asp55Tyr Single submitter ⚠
- p.Gln266His Single submitter ⚠
- p.Gln368Pro Single submitter ⚠
- p.Gln96His Single submitter ⚠
- p.Glu145Lys Single submitter ⚠
- p.Glu260Val Single submitter ⚠
- p.Glu420Lys Single submitter ⚠
- p.Gly102Arg Single submitter ⚠
- p.Gly156Arg Single submitter ⚠
- p.Gly174Ser Single submitter ⚠
- p.Gly226Arg Single submitter ⚠
- p.Gly22Ala Single submitter ⚠
- p.Gly321Val Single submitter ⚠
- p.Gly366Ser Single submitter ⚠
- p.Gly68Ser Single submitter ⚠
- p.His117Tyr Single submitter ⚠
- p.His127Arg Single submitter ⚠
- p.His127Tyr Single submitter ⚠
- p.His262Asp Single submitter ⚠
- p.Ile173Thr Single submitter ⚠
- p.Ile439Met Single submitter ⚠
- p.Leu106Val Single submitter ⚠
- p.Leu114Pro Single submitter ⚠
- p.Leu13Met Single submitter ⚠
- p.Leu323Val Single submitter ⚠
- p.Leu35Phe Single submitter ⚠
- p.Leu389Phe Single submitter ⚠
- p.Lys276Arg Single submitter ⚠
- p.Lys293Glu Single submitter ⚠
- p.Lys295Asn Single submitter ⚠
- p.Lys316Glu Single submitter ⚠
- p.Lys344Met Single submitter ⚠
- p.Lys361Asn Single submitter ⚠
- p.Lys403Asn Single submitter ⚠
- p.Met183Ile Single submitter ⚠
- p.Met61Val Single submitter ⚠
- p.Met77Leu Single submitter ⚠
- p.Phe320Ser Single submitter ⚠
- p.Phe428Leu Single submitter ⚠
- p.Pro124Ala Single submitter
- p.Pro141Leu Single submitter ⚠
- p.Pro157Ser Single submitter ⚠
- p.Pro242Leu Single submitter ⚠
- p.Pro256Leu Single submitter ⚠
- p.Pro267Leu Single submitter ⚠
- p.Pro267Ser Single submitter ⚠
- p.Pro272Arg Single submitter ⚠
- p.Pro309Leu Single submitter ⚠
- p.Pro426Leu Single submitter ⚠
- p.Pro52Thr Single submitter ⚠
- p.Ser279Phe Single submitter ⚠
- p.Ser327Gly Single submitter ⚠
- p.Ser43Phe Single submitter ⚠
- p.Ser450Gly Single submitter ⚠
- p.Ser45Pro Single submitter ⚠
- p.Ser478Thr Single submitter ⚠
- p.Ser89Thr Single submitter ⚠
- p.Thr179Ser Single submitter ⚠
- p.Thr239Ser Single submitter ⚠
- p.Thr241Ser Single submitter ⚠
- p.Thr273Ile Single submitter ⚠
- p.Thr278Asn Single submitter ⚠
- p.Thr351Ile Single submitter ⚠
- p.Thr436Ile Single submitter ⚠
- p.Thr483Ser Single submitter ⚠
- p.Trp149Ser Single submitter ⚠
- p.Trp264Cys Single submitter
- p.Tyr121Asn Single submitter ⚠
- p.Tyr212Cys Single submitter ⚠
- p.Tyr38His Single submitter ⚠
- p.Tyr392His Single submitter ⚠
- p.Tyr468Cys Single submitter ⚠
- p.Val17Gly Single submitter ⚠
- p.Val185Leu Single submitter ⚠
- p.Val263Ile Single submitter ⚠
- p.Val269Ala Single submitter ⚠
- p.Val269Met Single submitter ⚠
- p.Val288Ile Single submitter ⚠
- p.Val360Leu Single submitter
- p.Val360Met Single submitter
- p.Val384Leu Single submitter ⚠
- p.Val444Met Single submitter ⚠
- p.Val457Met Single submitter ⚠
- p.Val459Met Single submitter ⚠
- p.Val462Met Single submitter ⚠
- p.Val469Leu Single submitter ⚠
- p.Val469Met Single submitter ⚠
- p.Gln69His No assertion criteria CRISPLD2-related disorder ⚠