ADD1 — 101 ClinVar variants
All ClinVar germline ADD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →
1 Likely pathogenic · 7 Benign · 8 Likely benign · 85 Uncertain significance
Full ADD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 83
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ADD1 p.Ala137Val Uncertain significance Single submitter
- ADD1 p.Ala194Val Uncertain significance Single submitter
- ADD1 p.Ala333Asp Uncertain significance Single submitter
- ADD1 p.Ala456Val Uncertain significance Single submitter
- ADD1 p.Ala668Val Uncertain significance Single submitter
- ADD1 p.Arg172Thr Uncertain significance Single submitter
- ADD1 p.Arg300Trp Uncertain significance Single submitter
- ADD1 p.Arg354His Uncertain significance Single submitter
- ADD1 p.Arg442Gln Uncertain significance Single submitter
- ADD1 p.Arg446Gly Uncertain significance Single submitter
- ADD1 p.Arg656Lys Uncertain significance Single submitter
- ADD1 p.Asn101Ser Uncertain significance Single submitter
- ADD1 p.Asp385Asn Uncertain significance Single submitter
- ADD1 p.Asp409Asn Uncertain significance Single submitter
- ADD1 p.Gln438Pro Uncertain significance Single submitter
- ADD1 p.Gln666His Uncertain significance Single submitter
- ADD1 p.Glu455Gln Uncertain significance Single submitter
- ADD1 p.Glu654Lys Uncertain significance Single submitter
- ADD1 p.Glu657Lys Uncertain significance Single submitter
- ADD1 p.Gly425Ser Uncertain significance Single submitter
- ADD1 p.Gly463Ala Uncertain significance Single submitter
- ADD1 p.His224Gln Uncertain significance Single submitter
- ADD1 p.His302Arg Uncertain significance Single submitter
- ADD1 p.His509Arg Uncertain significance Single submitter
- ADD1 p.His671Tyr Uncertain significance Single submitter
- ADD1 p.Ile169Thr Uncertain significance Single submitter
- ADD1 p.Ile545Val Uncertain significance Single submitter
- ADD1 p.Leu519Gln Uncertain significance Single submitter
- ADD1 p.Leu555Trp Uncertain significance Single submitter
- ADD1 p.Lys644Arg Uncertain significance Single submitter
- ADD1 p.Phe152Leu Uncertain significance Single submitter
- ADD1 p.Pro432Arg Uncertain significance Single submitter
- ADD1 p.Pro673Ser Uncertain significance Single submitter
- ADD1 p.Ser366Pro Uncertain significance Single submitter
- ADD1 p.Ser464Gly Uncertain significance Single submitter
- ADD1 p.Ser468Leu Uncertain significance Single submitter
- ADD1 p.Thr364Ala Uncertain significance Single submitter
- ADD1 p.Thr429Ser Uncertain significance Single submitter
- ADD1 p.Trp370Arg Uncertain significance Single submitter
- ADD1 p.Tyr397Phe Uncertain significance Single submitter
- ADD1 p.Val198Phe Uncertain significance Single submitter
- ADD1 p.Val416Ile Uncertain significance Single submitter
- ADD1 p.Val616Ile Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- ADD1 p.Ala151Thr Uncertain significance Single submitter
- ADD1 p.Ala156Thr Uncertain significance Single submitter
- ADD1 p.Ala244Ser Uncertain significance Single submitter
- ADD1 p.Ala66Gly Uncertain significance Single submitter
- ADD1 p.Arg231Cys Uncertain significance Single submitter
- ADD1 p.Arg231His Uncertain significance Single submitter
- ADD1 p.Arg27Leu Uncertain significance Single submitter
- ADD1 p.Arg300Gln Uncertain significance Single submitter
- ADD1 p.Arg354Cys Uncertain significance Single submitter
- ADD1 p.Arg638Cys Uncertain significance Single submitter
- ADD1 p.Asn167Ser Uncertain significance Single submitter
- ADD1 p.Asn31Lys Uncertain significance Single submitter
- ADD1 p.Asn50Ser Uncertain significance Single submitter
- ADD1 p.Asp26His Uncertain significance Single submitter
- ADD1 p.Asp272Asn Uncertain significance Single submitter
- ADD1 p.Gln177Glu Uncertain significance Single submitter
- ADD1 p.Gln63His Uncertain significance Single submitter
- ADD1 p.Glu176Lys Uncertain significance Single submitter
- ADD1 p.Glu458Lys Uncertain significance Single submitter
- ADD1 p.Gly141Glu Uncertain significance Single submitter
- ADD1 p.Gly363Cys Uncertain significance Single submitter
- ADD1 p.Ile182Phe Uncertain significance Single submitter
- ADD1 p.Ile258Val Uncertain significance Single submitter
- ADD1 p.Ile608Thr Uncertain significance Single submitter
- ADD1 p.Leu555Val Uncertain significance Single submitter
- ADD1 p.Leu564Phe Uncertain significance Single submitter
- ADD1 p.Phe97Leu Uncertain significance Single submitter
- ADD1 p.Pro232Leu Uncertain significance Single submitter
- ADD1 p.Pro33Leu Uncertain significance Single submitter
- ADD1 p.Pro356Leu Uncertain significance Single submitter
- ADD1 p.Pro394Ser Uncertain significance Single submitter
- ADD1 p.Pro614Leu Uncertain significance Single submitter
- ADD1 p.Pro670Arg Uncertain significance Single submitter
- ADD1 p.Ser310Cys Uncertain significance Single submitter
- ADD1 p.Ser415Asn Uncertain significance Single submitter
- ADD1 p.Thr100Met Uncertain significance Single submitter
-
ADD1 p.Thr786Ser
Uncertain significance
Single submitter
neurodevelopmental disorder
- ADD1 p.Tyr317Ser Uncertain significance Single submitter
- ADD1 p.Val10Met Uncertain significance Single submitter
- ADD1 p.Val305Met Uncertain significance Single submitter
All ADD1 variants
Likely pathogenic 1
- p.Met1Val No assertion criteria esophageal atresia/tracheoesophageal fistula
Benign 7
Likely benign 8
- c.1608+4C>T Single submitter
- p.His615= Single submitter
- p.Ile200Val Single submitter
- p.Leu384= Single submitter
- p.Phe25= Single submitter
- p.Ser12= Single submitter
- p.Val237Ile Single submitter
- p.Pro43= No assertion criteria ADD1-related disorder
Uncertain significance 85
- c.2047+530G>A Single submitter
- c.2047+541G>T Single submitter
- p.Ala137Val Single submitter ⚠
- p.Ala151Thr Single submitter ⚠
- p.Ala156Thr Single submitter ⚠
- p.Ala194Val Single submitter ⚠
- p.Ala244Ser Single submitter ⚠
- p.Ala333Asp Single submitter ⚠
- p.Ala456Val Single submitter ⚠
- p.Ala668Val Single submitter ⚠
- p.Ala66Gly Single submitter ⚠
- p.Arg172Thr Single submitter ⚠
- p.Arg231Cys Single submitter ⚠
- p.Arg231His Single submitter ⚠
- p.Arg27Leu Single submitter ⚠
- p.Arg300Gln Single submitter ⚠
- p.Arg300Trp Single submitter ⚠
- p.Arg354Cys Single submitter ⚠
- p.Arg354His Single submitter ⚠
- p.Arg442Gln Single submitter ⚠
- p.Arg446Gly Single submitter ⚠
- p.Arg638Cys Single submitter ⚠
- p.Arg656Lys Single submitter ⚠
- p.Asn101Ser Single submitter ⚠
- p.Asn167Ser Single submitter ⚠
- p.Asn31Lys Single submitter ⚠
- p.Asn50Ser Single submitter ⚠
- p.Asp26His Single submitter ⚠
- p.Asp272Asn Single submitter ⚠
- p.Asp385Asn Single submitter ⚠
- p.Asp409Asn Single submitter ⚠
- p.Gln177Glu Single submitter ⚠
- p.Gln438Pro Single submitter ⚠
- p.Gln63His Single submitter ⚠
- p.Gln666His Single submitter ⚠
- p.Glu176Lys Single submitter ⚠
- p.Glu455Gln Single submitter ⚠
- p.Glu458Lys Single submitter ⚠
- p.Glu654Lys Single submitter ⚠
- p.Glu657Lys Single submitter ⚠
- p.Gly141Glu Single submitter ⚠
- p.Gly363Cys Single submitter ⚠
- p.Gly425Ser Single submitter ⚠
- p.Gly463Ala Single submitter ⚠
- p.His224Gln Single submitter ⚠
- p.His302Arg Single submitter ⚠
- p.His509Arg Single submitter ⚠
- p.His671Tyr Single submitter ⚠
- p.Ile169Thr Single submitter ⚠
- p.Ile182Phe Single submitter ⚠
- p.Ile258Val Single submitter ⚠
- p.Ile545Val Single submitter ⚠
- p.Ile608Thr Single submitter ⚠
- p.Leu519Gln Single submitter ⚠
- p.Leu555Trp Single submitter ⚠
- p.Leu555Val Single submitter ⚠
- p.Leu564Phe Single submitter ⚠
- p.Lys644Arg Single submitter ⚠
- p.Phe152Leu Single submitter ⚠
- p.Phe97Leu Single submitter ⚠
- p.Pro232Leu Single submitter ⚠
- p.Pro33Leu Single submitter ⚠
- p.Pro356Leu Single submitter ⚠
- p.Pro394Ser Single submitter ⚠
- p.Pro432Arg Single submitter ⚠
- p.Pro614Leu Single submitter ⚠
- p.Pro670Arg Single submitter ⚠
- p.Pro673Ser Single submitter ⚠
- p.Ser310Cys Single submitter ⚠
- p.Ser366Pro Single submitter ⚠
- p.Ser415Asn Single submitter ⚠
- p.Ser464Gly Single submitter ⚠
- p.Ser468Leu Single submitter ⚠
- p.Thr100Met Single submitter ⚠
- p.Thr364Ala Single submitter ⚠
- p.Thr429Ser Single submitter ⚠
- p.Thr786Ser Single submitter neurodevelopmental disorder ⚠
- p.Trp370Arg Single submitter ⚠
- p.Tyr317Ser Single submitter ⚠
- p.Tyr397Phe Single submitter ⚠
- p.Val10Met Single submitter ⚠
- p.Val198Phe Single submitter ⚠
- p.Val305Met Single submitter ⚠
- p.Val416Ile Single submitter ⚠
- p.Val616Ile Single submitter ⚠