DNALI1 — 57 ClinVar variants
All ClinVar germline DNALI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 5 Benign · 3 Likely benign · 47 Uncertain significance
Full DNALI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNALI1 p.Ala255Ser Uncertain significance Single submitter
- DNALI1 p.Arg124His Uncertain significance Single submitter
- DNALI1 p.Arg154Gln Uncertain significance Single submitter
- DNALI1 p.Arg201Gly Uncertain significance Single submitter
- DNALI1 p.Arg220Trp Uncertain significance Single submitter
- DNALI1 p.Arg224Met Uncertain significance Single submitter
- DNALI1 p.Arg29Gln Uncertain significance Single submitter
- DNALI1 p.Asp107Gly Uncertain significance Single submitter
- DNALI1 p.Gln130Arg Uncertain significance Single submitter
- DNALI1 p.Gln245Lys Uncertain significance Single submitter
- DNALI1 p.Glu169Lys Uncertain significance Single submitter
- DNALI1 p.Glu183Lys Uncertain significance Single submitter
- DNALI1 p.Glu209Lys Uncertain significance Single submitter
- DNALI1 p.Gly119Val Uncertain significance Single submitter
- DNALI1 p.Gly175Ser Uncertain significance Single submitter
- DNALI1 p.Leu52Pro Uncertain significance Single submitter
- DNALI1 p.Lys178Arg Uncertain significance Single submitter
- DNALI1 p.Met159Val Uncertain significance Single submitter
- DNALI1 p.Pro56Thr Uncertain significance Single submitter
- DNALI1 p.Pro75Ala Uncertain significance Single submitter
- DNALI1 p.Pro75Leu Uncertain significance Single submitter
- DNALI1 p.Thr198Met Uncertain significance Single submitter
- DNALI1 p.Thr50Ser Uncertain significance Single submitter
- DNALI1 p.Val17Met Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- DNALI1 p.Lys231Gln Benign Multiple submitters
- DNALI1 p.Ala144Val Uncertain significance Single submitter
- DNALI1 p.Ala194Thr Uncertain significance Single submitter
- DNALI1 p.Arg113Gln Uncertain significance Single submitter
- DNALI1 p.Arg158Cys Uncertain significance Single submitter
- DNALI1 p.Arg225Trp Uncertain significance Single submitter
- DNALI1 p.Arg29Trp Uncertain significance Single submitter
- DNALI1 p.Cys214Phe Uncertain significance Single submitter
- DNALI1 p.Gln88Glu Uncertain significance Single submitter
- DNALI1 p.Gln88His Uncertain significance Single submitter
- DNALI1 p.Ile193Val Uncertain significance Single submitter
- DNALI1 p.Ile72Met Uncertain significance Single submitter
- DNALI1 p.Ile72Val Uncertain significance Single submitter
- DNALI1 p.Lys109Asn Uncertain significance Single submitter
- DNALI1 p.Lys211Thr Likely benign Single submitter
- DNALI1 p.Lys219Gln Uncertain significance Single submitter
- DNALI1 p.Met176Val Uncertain significance Single submitter
- DNALI1 p.Ser7Pro Uncertain significance Single submitter
- DNALI1 p.Thr160Ser Uncertain significance Single submitter
- DNALI1 p.Tyr128Phe Uncertain significance Single submitter
- DNALI1 p.Val172Met Uncertain significance Single submitter
All DNALI1 variants
Pathogenic 1
- p.Ser222fs No assertion criteria spermatogenic failure 83
Likely pathogenic 1
- p.Glu190Ter Single submitter spermatogenic failure 83
Benign 5
- p.Leu196= Multiple submitters
- p.Lys231Gln Multiple submitters ⚠
- c.741+10G>A Single submitter
- p.Leu9= Single submitter
- p.Ser222= Single submitter
Likely benign 3
- c.-28C>G Single submitter
- c.-43C>T Single submitter
- p.Lys211Thr Single submitter ⚠
Uncertain significance 47
- c.-21G>A Single submitter
- c.-29G>T Single submitter
- c.-42A>T Single submitter
- p.Ala144Val Single submitter ⚠
- p.Ala194Thr Single submitter ⚠
- p.Ala255Ser Single submitter ⚠
- p.Arg113Gln Single submitter ⚠
- p.Arg124His Single submitter ⚠
- p.Arg154Gln Single submitter ⚠
- p.Arg158Cys Single submitter ⚠
- p.Arg201Gly Single submitter ⚠
- p.Arg220Trp Single submitter ⚠
- p.Arg224Met Single submitter ⚠
- p.Arg225Trp Single submitter ⚠
- p.Arg29Gln Single submitter ⚠
- p.Arg29Trp Single submitter ⚠
- p.Asp107Gly Single submitter ⚠
- p.Cys214Phe Single submitter ⚠
- p.Gln130Arg Single submitter ⚠
- p.Gln245Lys Single submitter ⚠
- p.Gln88Glu Single submitter ⚠
- p.Gln88His Single submitter ⚠
- p.Glu169Lys Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu209Lys Single submitter ⚠
- p.Gly119Val Single submitter ⚠
- p.Gly175Ser Single submitter ⚠
- p.Ile193Val Single submitter ⚠
- p.Ile72Met Single submitter ⚠
- p.Ile72Val Single submitter ⚠
- p.Leu52Pro Single submitter ⚠
- p.Lys109Asn Single submitter ⚠
- p.Lys178Arg Single submitter ⚠
- p.Lys219Gln Single submitter ⚠
- p.Met159Val Single submitter ⚠
- p.Met176Val Single submitter ⚠
- p.Pro56Thr Single submitter ⚠
- p.Pro75Ala Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Ser7Pro Single submitter ⚠
- p.Thr160Ser Single submitter ⚠
- p.Thr198Met Single submitter ⚠
- p.Thr50Ser Single submitter ⚠
- p.Tyr128Phe Single submitter ⚠
- p.Val172Met Single submitter ⚠
- p.Val17Met Single submitter ⚠
- p.Lys231del No assertion criteria