DPYSL2 — 70 ClinVar variants
All ClinVar germline DPYSL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
1 Likely pathogenic · 7 Benign · 15 Likely benign · 47 Uncertain significance
Full DPYSL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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DPYSL2 p.Asp520Asn
Uncertain significance
Multiple submitters
DPYSL2-related disorder
- DPYSL2 p.Ala259Glu Uncertain significance Single submitter
- DPYSL2 p.Ala259Val Uncertain significance Single submitter
- DPYSL2 p.Ala437Gly Uncertain significance Single submitter
- DPYSL2 p.Arg466Gln Uncertain significance Single submitter
- DPYSL2 p.Arg545His Uncertain significance Single submitter
- DPYSL2 p.Arg637Trp Uncertain significance Single submitter
- DPYSL2 p.Asn492Ile Uncertain significance Single submitter
- DPYSL2 p.Glu595Asp Uncertain significance Single submitter
- DPYSL2 p.His212Tyr Uncertain significance Single submitter
- DPYSL2 p.Ile246Val Uncertain significance Single submitter
- DPYSL2 p.Ile296Val Uncertain significance Single submitter
- DPYSL2 p.Lys503Arg Uncertain significance Single submitter
- DPYSL2 p.Met257Thr Uncertain significance Single submitter
- DPYSL2 p.Pro457Leu Uncertain significance Single submitter
- DPYSL2 p.Ser135Leu Uncertain significance Single submitter
- DPYSL2 p.Ser553Asn Uncertain significance Single submitter
- DPYSL2 p.Val448Ile Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- DPYSL2 p.Ala338Thr Uncertain significance Single submitter
- DPYSL2 p.Ala401Thr Uncertain significance Single submitter
- DPYSL2 p.Arg278Cys Uncertain significance Single submitter
- DPYSL2 p.Arg294Gln Uncertain significance Single submitter
- DPYSL2 p.Arg332Gln Uncertain significance Single submitter
- DPYSL2 p.Arg505Cys Uncertain significance Single submitter
- DPYSL2 p.Arg545Cys Uncertain significance Single submitter
- DPYSL2 p.Arg572Cys Uncertain significance Single submitter
- DPYSL2 p.Arg576Gln Uncertain significance Single submitter
- DPYSL2 p.Asn349Ser Uncertain significance Single submitter
- DPYSL2 p.Asn492Ser Uncertain significance Single submitter
- DPYSL2 p.Asp233Asn Uncertain significance Single submitter
- DPYSL2 p.Cys544Ser Uncertain significance Single submitter
- DPYSL2 p.Gln632Arg Uncertain significance Single submitter
- DPYSL2 p.Gly187Glu Uncertain significance Single submitter
- DPYSL2 p.Ile538Val Likely benign Single submitter
- DPYSL2 p.Pro519Ser Uncertain significance Single submitter
- DPYSL2 p.Ser397Asn Uncertain significance Single submitter
- DPYSL2 p.Thr179Ala Uncertain significance Single submitter
- DPYSL2 p.Thr282Met Uncertain significance Single submitter
- DPYSL2 p.Thr346Ala Uncertain significance Single submitter
- DPYSL2 p.Thr390Met Uncertain significance Single submitter
- DPYSL2 p.Thr408Ala Uncertain significance Single submitter
- DPYSL2 p.Thr440Met Uncertain significance Single submitter
- DPYSL2 p.Val261Leu Uncertain significance Single submitter
- DPYSL2 p.Val469Ile Uncertain significance Single submitter
- DPYSL2 p.Val508Met Uncertain significance Single submitter
-
DPYSL2 p.Arg278His
Likely benign
No assertion criteria
DPYSL2-related disorder
- DPYSL2 p.Asn537Thr Uncertain significance No assertion criteria
-
DPYSL2 p.Asp308Asn
Uncertain significance
No assertion criteria
DPYSL2-related disorder
All DPYSL2 variants
Likely pathogenic 1
- p.Ser119Arg Single submitter Inborn genetic diseases
Benign 7
- c.1777-9G>A Multiple submitters
- p.Ala223Thr Multiple submitters
- p.Ala437= Multiple submitters
- p.Ile347= Multiple submitters
- p.Ser521= Multiple submitters
- p.Ser119= Single submitter
- p.Thr660= Single submitter
Likely benign 15
- p.His264= Multiple submitters
- p.Thr529= Multiple submitters
- p.Arg168= Single submitter
- p.Asp605= Single submitter
- p.Gln196= Single submitter
- p.Glu568Lys Single submitter
- p.Gly307= Single submitter
- p.His303= Single submitter
- p.Ile357Val Single submitter
- p.Ile538Val Single submitter ⚠
- p.Pro575= Single submitter
- p.Thr390= Single submitter
- p.Val65= Single submitter
- p.Arg278His No assertion criteria DPYSL2-related disorder ⚠
- p.Lys503= No assertion criteria DPYSL2-related disorder
Uncertain significance 47
- p.Asp520Asn Multiple submitters DPYSL2-related disorder ⚠
- p.Ala259Glu Single submitter ⚠
- p.Ala259Val Single submitter ⚠
- p.Ala338Thr Single submitter ⚠
- p.Ala401Thr Single submitter ⚠
- p.Ala437Gly Single submitter ⚠
- p.Arg278Cys Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Arg332Gln Single submitter ⚠
- p.Arg466Gln Single submitter ⚠
- p.Arg505Cys Single submitter ⚠
- p.Arg545Cys Single submitter ⚠
- p.Arg545His Single submitter ⚠
- p.Arg572Cys Single submitter ⚠
- p.Arg576Gln Single submitter ⚠
- p.Arg637Trp Single submitter ⚠
- p.Asn349Ser Single submitter ⚠
- p.Asn492Ile Single submitter ⚠
- p.Asn492Ser Single submitter ⚠
- p.Asp233Asn Single submitter ⚠
- p.Cys544Ser Single submitter ⚠
- p.Gln632Arg Single submitter ⚠
- p.Glu595Asp Single submitter ⚠
- p.Gly187Glu Single submitter ⚠
- p.Gly91fs Single submitter DPYSL2-related disorder
- p.His212Tyr Single submitter ⚠
- p.Ile246Val Single submitter ⚠
- p.Ile296Val Single submitter ⚠
- p.Lys503Arg Single submitter ⚠
- p.Met257Thr Single submitter ⚠
- p.Pro457Leu Single submitter ⚠
- p.Pro519Ser Single submitter ⚠
- p.Ser135Leu Single submitter ⚠
- p.Ser397Asn Single submitter ⚠
- p.Ser553Asn Single submitter ⚠
- p.Thr179Ala Single submitter ⚠
- p.Thr282Met Single submitter ⚠
- p.Thr346Ala Single submitter ⚠
- p.Thr390Met Single submitter ⚠
- p.Thr408Ala Single submitter ⚠
- p.Thr440Met Single submitter ⚠
- p.Val261Leu Single submitter ⚠
- p.Val448Ile Single submitter ⚠
- p.Val469Ile Single submitter ⚠
- p.Val508Met Single submitter ⚠
- p.Asn537Thr No assertion criteria ⚠
- p.Asp308Asn No assertion criteria DPYSL2-related disorder ⚠