DPYSL3 — 66 ClinVar variants
All ClinVar germline DPYSL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
4 Benign · 5 Likely benign · 57 Uncertain significance
Full DPYSL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DPYSL3 p.Ala147Val Uncertain significance Single submitter
- DPYSL3 p.Ala210Thr Uncertain significance Single submitter
- DPYSL3 p.Ala530Thr Uncertain significance Single submitter
- DPYSL3 p.Ala607Ser Uncertain significance Single submitter
- DPYSL3 p.Ala630Thr Uncertain significance Single submitter
- DPYSL3 p.Asn175Ser Uncertain significance Single submitter
- DPYSL3 p.Asn276Lys Uncertain significance Single submitter
- DPYSL3 p.Asp254His Uncertain significance Single submitter
- DPYSL3 p.Asp590Asn Uncertain significance Single submitter
- DPYSL3 p.Cys301Phe Uncertain significance Single submitter
- DPYSL3 p.Glu227Gln Uncertain significance Single submitter
- DPYSL3 p.Glu661Asp Uncertain significance Single submitter
- DPYSL3 p.Gly154Asp Uncertain significance Single submitter
- DPYSL3 p.Gly183Ser Uncertain significance Single submitter
- DPYSL3 p.Gly303Arg Uncertain significance Single submitter
- DPYSL3 p.Gly611Val Uncertain significance Single submitter
- DPYSL3 p.Ile356Thr Uncertain significance Single submitter
- DPYSL3 p.Ile457Val Uncertain significance Single submitter
- DPYSL3 p.Ile505Val Uncertain significance Single submitter
- DPYSL3 p.Ile596Val Uncertain significance Single submitter
- DPYSL3 p.Leu132Phe Uncertain significance Single submitter
- DPYSL3 p.Lys512Arg Uncertain significance Single submitter
- DPYSL3 p.Met151Ile Uncertain significance Single submitter
- DPYSL3 p.Met326Val Uncertain significance Single submitter
- DPYSL3 p.Met567Ile Uncertain significance Single submitter
- DPYSL3 p.Met567Leu Uncertain significance Single submitter
- DPYSL3 p.Met612Val Uncertain significance Single submitter
- DPYSL3 p.Phe190Leu Uncertain significance Single submitter
- DPYSL3 p.Pro166Ser Uncertain significance Single submitter
- DPYSL3 p.Thr657Ala Uncertain significance Single submitter
- DPYSL3 p.Val659Ala Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- DPYSL3 p.Ala174Thr Uncertain significance Single submitter
- DPYSL3 p.Arg581His Uncertain significance Single submitter
- DPYSL3 p.Arg634Trp Uncertain significance Single submitter
- DPYSL3 p.Arg677His Uncertain significance Single submitter
- DPYSL3 p.Asn470Ser Uncertain significance Single submitter
- DPYSL3 p.Asp481Asn Uncertain significance Single submitter
- DPYSL3 p.Asp660Ala Uncertain significance Single submitter
- DPYSL3 p.Gly631Val Uncertain significance Single submitter
- DPYSL3 p.Ile172Thr Uncertain significance Single submitter
-
DPYSL3 p.Ile219Leu
Uncertain significance
Single submitter
autism
- DPYSL3 p.Ile298Val Uncertain significance Single submitter
- DPYSL3 p.Ile354Thr Uncertain significance Single submitter
- DPYSL3 p.Ile505Phe Uncertain significance Single submitter
- DPYSL3 p.Leu305Met Uncertain significance Single submitter
- DPYSL3 p.Met567Arg Uncertain significance Single submitter
- DPYSL3 p.Pro428Leu Uncertain significance Single submitter
- DPYSL3 p.Ser144Thr Uncertain significance Single submitter
- DPYSL3 p.Ser229Asn Uncertain significance Single submitter
- DPYSL3 p.Ser433Ala Uncertain significance Single submitter
- DPYSL3 p.Ser451Ile Uncertain significance Single submitter
- DPYSL3 p.Thr332Ile Uncertain significance Single submitter
- DPYSL3 p.Tyr234Cys Uncertain significance Single submitter
- DPYSL3 p.Val559Ala Uncertain significance Single submitter
- DPYSL3 p.Val608Ile Uncertain significance Single submitter
- DPYSL3 p.Val663Phe Uncertain significance Single submitter
All DPYSL3 variants
Benign 4
- c.1311-10C>T Single submitter
- c.820+8C>T Single submitter
- p.Thr324= Single submitter
- p.Val517= Single submitter
Likely benign 5
- c.382-28598C>A Single submitter
- c.471-5A>G Single submitter
- p.Ala209= Single submitter
- p.Ala603= Single submitter
- p.Val366Ile Single submitter
Uncertain significance 57
- p.Ala147Val Single submitter ⚠
- p.Ala174Thr Single submitter ⚠
- p.Ala210Thr Single submitter ⚠
- p.Ala530Thr Single submitter ⚠
- p.Ala607Ser Single submitter ⚠
- p.Ala630Thr Single submitter ⚠
- p.Arg581His Single submitter ⚠
- p.Arg634Trp Single submitter ⚠
- p.Arg677His Single submitter ⚠
- p.Asn175Ser Single submitter ⚠
- p.Asn276Lys Single submitter ⚠
- p.Asn470Ser Single submitter ⚠
- p.Asp254His Single submitter ⚠
- p.Asp481Asn Single submitter ⚠
- p.Asp590Asn Single submitter ⚠
- p.Asp660Ala Single submitter ⚠
- p.Cys301Phe Single submitter ⚠
- p.Glu227Gln Single submitter ⚠
- p.Glu661Asp Single submitter ⚠
- p.Gly154Asp Single submitter ⚠
- p.Gly183Ser Single submitter ⚠
- p.Gly303Arg Single submitter ⚠
- p.Gly611Val Single submitter ⚠
- p.Gly631Val Single submitter ⚠
- p.Ile172Thr Single submitter ⚠
- p.Ile219Leu Single submitter autism ⚠
- p.Ile298Val Single submitter ⚠
- p.Ile354Thr Single submitter ⚠
- p.Ile356Thr Single submitter ⚠
- p.Ile457Val Single submitter ⚠
- p.Ile505Phe Single submitter ⚠
- p.Ile505Val Single submitter ⚠
- p.Ile596Val Single submitter ⚠
- p.Leu132Phe Single submitter ⚠
- p.Leu305Met Single submitter ⚠
- p.Lys512Arg Single submitter ⚠
- p.Met151Ile Single submitter ⚠
- p.Met326Val Single submitter ⚠
- p.Met567Arg Single submitter ⚠
- p.Met567Ile Single submitter ⚠
- p.Met567Leu Single submitter ⚠
- p.Met612Val Single submitter ⚠
- p.Phe190Leu Single submitter ⚠
- p.Pro166Ser Single submitter ⚠
- p.Pro428Leu Single submitter ⚠
- p.Ser144Thr Single submitter ⚠
- p.Ser229Asn Single submitter ⚠
- p.Ser433Ala Single submitter ⚠
- p.Ser451Ile Single submitter ⚠
- p.Thr332Ile Single submitter ⚠
- p.Thr657Ala Single submitter ⚠
- p.Tyr19Phe Single submitter
- p.Tyr234Cys Single submitter ⚠
- p.Val559Ala Single submitter ⚠
- p.Val608Ile Single submitter ⚠
- p.Val659Ala Single submitter ⚠
- p.Val663Phe Single submitter ⚠