DUS1L — 79 ClinVar variants
All ClinVar germline DUS1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
1 Likely pathogenic · 2 Likely benign · 76 Uncertain significance
Full DUS1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DUS1L p.Ala189Val Uncertain significance Single submitter
- DUS1L p.Ala207Asp Uncertain significance Single submitter
- DUS1L p.Ala232Thr Uncertain significance Single submitter
- DUS1L p.Ala352Val Uncertain significance Single submitter
- DUS1L p.Ala58Thr Uncertain significance Single submitter
- DUS1L p.Ala91Val Uncertain significance Single submitter
- DUS1L p.Arg12Leu Uncertain significance Single submitter
- DUS1L p.Arg261Gln Uncertain significance Single submitter
- DUS1L p.Arg311Gln Uncertain significance Single submitter
- DUS1L p.Arg318Lys Uncertain significance Single submitter
- DUS1L p.Arg339Gln Uncertain significance Single submitter
- DUS1L p.Arg353Cys Uncertain significance Single submitter
- DUS1L p.Arg412Cys Uncertain significance Single submitter
- DUS1L p.Arg418Gln Uncertain significance Single submitter
- DUS1L p.Arg61Trp Uncertain significance Single submitter
- DUS1L p.Asp103Glu Uncertain significance Single submitter
- DUS1L p.Asp223Ala Uncertain significance Single submitter
- DUS1L p.Asp327Asn Uncertain significance Single submitter
- DUS1L p.Gln110Glu Uncertain significance Single submitter
- DUS1L p.Gln376His Uncertain significance Single submitter
- DUS1L p.Glu251Asp Uncertain significance Single submitter
- DUS1L p.Glu254Lys Uncertain significance Single submitter
- DUS1L p.Glu291Gly Uncertain significance Single submitter
- DUS1L p.Glu314Val Uncertain significance Single submitter
- DUS1L p.Glu466Lys Uncertain significance Single submitter
- DUS1L p.Glu68Val Uncertain significance Single submitter
- DUS1L p.Glu72Asp Uncertain significance Single submitter
- DUS1L p.Gly326Ser Uncertain significance Single submitter
- DUS1L p.Gly413Ser Uncertain significance Single submitter
- DUS1L p.Gly430Arg Uncertain significance Single submitter
- DUS1L p.Gly462Ala Uncertain significance Single submitter
- DUS1L p.His263Gln Uncertain significance Single submitter
- DUS1L p.His273Tyr Uncertain significance Single submitter
- DUS1L p.His381Gln Uncertain significance Single submitter
- DUS1L p.Ile338Thr Uncertain significance Single submitter
- DUS1L p.Leu298Arg Uncertain significance Single submitter
- DUS1L p.Leu308Pro Uncertain significance Single submitter
- DUS1L p.Lys199Met Uncertain significance Single submitter
- DUS1L p.Lys417Gln Uncertain significance Single submitter
- DUS1L p.Met48Ile Uncertain significance Single submitter
- DUS1L p.Pro143Ser Uncertain significance Single submitter
- DUS1L p.Pro336Ser Uncertain significance Single submitter
- DUS1L p.Pro386Ser Uncertain significance Single submitter
- DUS1L p.Ser186Leu Uncertain significance Single submitter
- DUS1L p.Ser346Asn Uncertain significance Single submitter
- DUS1L p.Tyr118Cys Uncertain significance Single submitter
- DUS1L p.Val20Ile Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- DUS1L p.Ala120Thr Uncertain significance Single submitter
- DUS1L p.Ala120Val Uncertain significance Single submitter
- DUS1L p.Ala240Thr Uncertain significance Single submitter
- DUS1L p.Ala272Thr Uncertain significance Single submitter
- DUS1L p.Ala41Gly Uncertain significance Single submitter
- DUS1L p.Arg12Cys Uncertain significance Single submitter
- DUS1L p.Arg245Trp Uncertain significance Single submitter
- DUS1L p.Arg56Cys Uncertain significance Single submitter
- DUS1L p.Asp127His Uncertain significance Single submitter
- DUS1L p.Asp155Asn Uncertain significance Single submitter
- DUS1L p.Asp57Ala Uncertain significance Single submitter
- DUS1L p.Asp57Glu Uncertain significance Single submitter
- DUS1L p.Gln181Glu Uncertain significance Single submitter
- DUS1L p.Glu180Gly Uncertain significance Single submitter
- DUS1L p.Glu315Lys Uncertain significance Single submitter
- DUS1L p.Glu72Lys Uncertain significance Single submitter
- DUS1L p.Gly399Arg Uncertain significance Single submitter
- DUS1L p.Gly6Ala Uncertain significance Single submitter
- DUS1L p.Ile148Met Uncertain significance Single submitter
- DUS1L p.Pro247Thr Uncertain significance Single submitter
- DUS1L p.Pro340Leu Uncertain significance Single submitter
- DUS1L p.Val158Met Uncertain significance Single submitter
- DUS1L p.Val229Ile Uncertain significance Single submitter
- DUS1L p.Val260Met Uncertain significance Single submitter
All DUS1L variants
Likely pathogenic 1
- p.Glu299fs Single submitter microcephaly
Likely benign 2
- p.Glu68Asp Single submitter
- p.Pro340= Single submitter
Uncertain significance 76
- p.Ala120Thr Single submitter ⚠
- p.Ala120Val Single submitter ⚠
- p.Ala189Val Single submitter ⚠
- p.Ala207Asp Single submitter ⚠
- p.Ala232Thr Single submitter ⚠
- p.Ala240Thr Single submitter ⚠
- p.Ala272Thr Single submitter ⚠
- p.Ala352Val Single submitter ⚠
- p.Ala41Gly Single submitter ⚠
- p.Ala58Thr Single submitter ⚠
- p.Ala91Val Single submitter ⚠
- p.Arg12Cys Single submitter ⚠
- p.Arg12Leu Single submitter ⚠
- p.Arg198Trp Single submitter
- p.Arg245Trp Single submitter ⚠
- p.Arg261Gln Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg318Lys Single submitter ⚠
- p.Arg339Gln Single submitter ⚠
- p.Arg353Cys Single submitter ⚠
- p.Arg412Cys Single submitter ⚠
- p.Arg418Gln Single submitter ⚠
- p.Arg56Cys Single submitter ⚠
- p.Arg61Gln Single submitter
- p.Arg61Trp Single submitter ⚠
- p.Asp103Glu Single submitter ⚠
- p.Asp127His Single submitter ⚠
- p.Asp155Asn Single submitter ⚠
- p.Asp223Ala Single submitter ⚠
- p.Asp327Asn Single submitter ⚠
- p.Asp57Ala Single submitter ⚠
- p.Asp57Glu Single submitter ⚠
- p.Gln110Glu Single submitter ⚠
- p.Gln170Arg Single submitter
- p.Gln181Glu Single submitter ⚠
- p.Gln376His Single submitter ⚠
- p.Glu180Gly Single submitter ⚠
- p.Glu251Asp Single submitter ⚠
- p.Glu254Lys Single submitter ⚠
- p.Glu291Gly Single submitter ⚠
- p.Glu314Val Single submitter ⚠
- p.Glu315Lys Single submitter ⚠
- p.Glu466Lys Single submitter ⚠
- p.Glu68Val Single submitter ⚠
- p.Glu72Asp Single submitter ⚠
- p.Glu72Lys Single submitter ⚠
- p.Gly326Ser Single submitter ⚠
- p.Gly399Arg Single submitter ⚠
- p.Gly413Ser Single submitter ⚠
- p.Gly430Arg Single submitter ⚠
- p.Gly462Ala Single submitter ⚠
- p.Gly6Ala Single submitter ⚠
- p.His263Gln Single submitter ⚠
- p.His273Tyr Single submitter ⚠
- p.His381Gln Single submitter ⚠
- p.Ile148Met Single submitter ⚠
- p.Ile338Thr Single submitter ⚠
- p.Leu298Arg Single submitter ⚠
- p.Leu308Pro Single submitter ⚠
- p.Lys199Met Single submitter ⚠
- p.Lys417Gln Single submitter ⚠
- p.Met48Ile Single submitter ⚠
- p.Pro143Ser Single submitter ⚠
- p.Pro247Thr Single submitter ⚠
- p.Pro336Ser Single submitter ⚠
- p.Pro340Leu Single submitter ⚠
- p.Pro386Ser Single submitter ⚠
- p.Ser186Leu Single submitter ⚠
- p.Ser346Asn Single submitter ⚠
- p.Thr173Met Single submitter
- p.Tyr118Cys Single submitter ⚠
- p.Val158Met Single submitter ⚠
- p.Val20Ile Single submitter ⚠
- p.Val229Ile Single submitter ⚠
- p.Val260Met Single submitter ⚠
- p.Val270Ala Single submitter