OGFOD1 — 72 ClinVar variants
All ClinVar germline OGFOD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
1 Benign · 4 Likely benign · 67 Uncertain significance
Full OGFOD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OGFOD1 p.Ala165Val Uncertain significance Single submitter
- OGFOD1 p.Ala310Thr Uncertain significance Single submitter
- OGFOD1 p.Arg124Gln Uncertain significance Single submitter
- OGFOD1 p.Arg162His Uncertain significance Single submitter
- OGFOD1 p.Arg163Leu Uncertain significance Single submitter
- OGFOD1 p.Arg255Gln Uncertain significance Single submitter
- OGFOD1 p.Arg255Trp Uncertain significance Single submitter
- OGFOD1 p.Arg321Gln Uncertain significance Single submitter
- OGFOD1 p.Arg519Gln Uncertain significance Single submitter
- OGFOD1 p.Asn247Ser Uncertain significance Single submitter
- OGFOD1 p.Asp140His Uncertain significance Single submitter
- OGFOD1 p.Asp506Asn Uncertain significance Single submitter
- OGFOD1 p.Asp535Gly Uncertain significance Single submitter
- OGFOD1 p.Gln282Lys Uncertain significance Single submitter
- OGFOD1 p.Gln412Pro Uncertain significance Single submitter
- OGFOD1 p.Glu211Lys Uncertain significance Single submitter
- OGFOD1 p.Glu285Gly Uncertain significance Single submitter
- OGFOD1 p.Glu334Asp Uncertain significance Single submitter
- OGFOD1 p.Glu415Lys Uncertain significance Single submitter
- OGFOD1 p.Glu469Gly Uncertain significance Single submitter
- OGFOD1 p.Glu522Gln Uncertain significance Single submitter
- OGFOD1 p.Gly235Ser Uncertain significance Single submitter
- OGFOD1 p.His111Tyr Uncertain significance Single submitter
- OGFOD1 p.His258Tyr Uncertain significance Single submitter
- OGFOD1 p.His63Arg Uncertain significance Single submitter
- OGFOD1 p.Ile196Thr Uncertain significance Single submitter
- OGFOD1 p.Ile516Thr Uncertain significance Single submitter
- OGFOD1 p.Leu127His Uncertain significance Single submitter
- OGFOD1 p.Leu439Gln Uncertain significance Single submitter
- OGFOD1 p.Leu449Phe Uncertain significance Single submitter
- OGFOD1 p.Lys105Glu Uncertain significance Single submitter
- OGFOD1 p.Lys380Glu Uncertain significance Single submitter
- OGFOD1 p.Lys427Asn Uncertain significance Single submitter
- OGFOD1 p.Lys524Arg Uncertain significance Single submitter
- OGFOD1 p.Met434Ile Uncertain significance Single submitter
- OGFOD1 p.Met56Ile Uncertain significance Single submitter
- OGFOD1 p.Met56Val Uncertain significance Single submitter
- OGFOD1 p.Met58Leu Uncertain significance Single submitter
- OGFOD1 p.Phe328Cys Uncertain significance Single submitter
- OGFOD1 p.Pro254Thr Uncertain significance Single submitter
- OGFOD1 p.Pro272Ala Uncertain significance Single submitter
- OGFOD1 p.Pro399Ser Uncertain significance Single submitter
- OGFOD1 p.Ser128Cys Uncertain significance Single submitter
- OGFOD1 p.Ser213Tyr Uncertain significance Single submitter
- OGFOD1 p.Ser371Leu Uncertain significance Single submitter
- OGFOD1 p.Ser537Ala Uncertain significance Single submitter
- OGFOD1 p.Trp318Cys Uncertain significance Single submitter
- OGFOD1 p.Tyr267Phe Uncertain significance Single submitter
- OGFOD1 p.Tyr504His Uncertain significance Single submitter
- OGFOD1 p.Tyr92Cys Uncertain significance Single submitter
- OGFOD1 p.Val212Ala Uncertain significance Single submitter
- OGFOD1 p.Val223Ala Uncertain significance Single submitter
- OGFOD1 p.Val65Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- OGFOD1 p.Arg349Cys Uncertain significance Single submitter
- OGFOD1 p.Asn498Ser Uncertain significance Single submitter
- OGFOD1 p.Asn93Ile Uncertain significance Single submitter
- OGFOD1 p.Asp57Tyr Uncertain significance Single submitter
- OGFOD1 p.Cys435Tyr Uncertain significance Single submitter
- OGFOD1 p.His366Gln Uncertain significance Single submitter
- OGFOD1 p.Pro528Arg Uncertain significance Single submitter
- OGFOD1 p.Ser203Leu Uncertain significance Single submitter
All OGFOD1 variants
Benign 1
- p.Pro528= Single submitter
Likely benign 4
- c.901-21_901-18del Single submitter
- p.Gly476= Single submitter
- p.Pro397Ser Single submitter
- p.Pro495= Single submitter
Uncertain significance 67
- c.1467+11_1467+13del Single submitter Bardet-Biedl syndrome 2
- p.Ala165Val Single submitter ⚠
- p.Ala310Thr Single submitter ⚠
- p.Arg124Gln Single submitter ⚠
- p.Arg162His Single submitter ⚠
- p.Arg163Leu Single submitter ⚠
- p.Arg244Trp Single submitter
- p.Arg255Gln Single submitter ⚠
- p.Arg255Trp Single submitter ⚠
- p.Arg321Gln Single submitter ⚠
- p.Arg349Cys Single submitter ⚠
- p.Arg519Gln Single submitter ⚠
- p.Asn247Ser Single submitter ⚠
- p.Asn498Ser Single submitter ⚠
- p.Asn93Ile Single submitter ⚠
- p.Asp140His Single submitter ⚠
- p.Asp506Asn Single submitter ⚠
- p.Asp535Gly Single submitter ⚠
- p.Asp57Tyr Single submitter ⚠
- p.Cys435Tyr Single submitter ⚠
- p.Gln282Lys Single submitter ⚠
- p.Gln412Pro Single submitter ⚠
- p.Glu211Lys Single submitter ⚠
- p.Glu285Gly Single submitter ⚠
- p.Glu334Asp Single submitter ⚠
- p.Glu415Lys Single submitter ⚠
- p.Glu469Gly Single submitter ⚠
- p.Glu522Gln Single submitter ⚠
- p.Gly235Ser Single submitter ⚠
- p.His111Tyr Single submitter ⚠
- p.His258Tyr Single submitter ⚠
- p.His366Gln Single submitter ⚠
- p.His63Arg Single submitter ⚠
- p.Ile196Thr Single submitter ⚠
- p.Ile482Phe Single submitter
- p.Ile516Thr Single submitter ⚠
- p.Leu104Met Single submitter
- p.Leu127His Single submitter ⚠
- p.Leu439Gln Single submitter ⚠
- p.Leu449Phe Single submitter ⚠
- p.Lys105Glu Single submitter ⚠
- p.Lys380Glu Single submitter ⚠
- p.Lys427Asn Single submitter ⚠
- p.Lys524Arg Single submitter ⚠
- p.Met434Ile Single submitter ⚠
- p.Met56Ile Single submitter ⚠
- p.Met56Val Single submitter ⚠
- p.Met58Leu Single submitter ⚠
- p.Phe328Cys Single submitter ⚠
- p.Pro254Thr Single submitter ⚠
- p.Pro272Ala Single submitter ⚠
- p.Pro399Ser Single submitter ⚠
- p.Pro528Arg Single submitter ⚠
- p.Ser128Cys Single submitter ⚠
- p.Ser203Leu Single submitter ⚠
- p.Ser213Tyr Single submitter ⚠
- p.Ser371Leu Single submitter ⚠
- p.Ser537Ala Single submitter ⚠
- p.Thr181Ile Single submitter
- p.Thr509Ser Single submitter
- p.Trp318Cys Single submitter ⚠
- p.Tyr267Phe Single submitter ⚠
- p.Tyr504His Single submitter ⚠
- p.Tyr92Cys Single submitter ⚠
- p.Val212Ala Single submitter ⚠
- p.Val223Ala Single submitter ⚠
- p.Val65Met Single submitter ⚠