YIPF5 — 33 ClinVar variants
All ClinVar germline YIPF5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
2 Pathogenic · 2 Benign · 1 Likely benign · 28 Uncertain significance
Full YIPF5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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YIPF5 p.Ala181Val
Pathogenic
No assertion criteria
microcephaly, epilepsy, and diabetes syndrome 2
Predictors lean, ClinVar uncertain 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- YIPF5 p.Val51Ile Uncertain significance Multiple submitters
- YIPF5 p.Ala198Thr Uncertain significance Single submitter
- YIPF5 p.Asp20Gly Uncertain significance Single submitter
- YIPF5 p.Asp43Asn Uncertain significance Single submitter
- YIPF5 p.Cys179Phe Uncertain significance Single submitter
- YIPF5 p.Gln21Arg Uncertain significance Single submitter
- YIPF5 p.Gly174Cys Uncertain significance Single submitter
- YIPF5 p.Gly205Glu Uncertain significance Single submitter
- YIPF5 p.Gly3Val Uncertain significance Single submitter
- YIPF5 p.Gly83Glu Uncertain significance Single submitter
- YIPF5 p.Ile158Leu Uncertain significance Single submitter
- YIPF5 p.Ile158Val Uncertain significance Single submitter
- YIPF5 p.Ile200Val Uncertain significance Single submitter
- YIPF5 p.Leu193Pro Uncertain significance Single submitter
- YIPF5 p.Met172Thr Uncertain significance Single submitter
- YIPF5 p.Pro53Ala Uncertain significance Single submitter
- YIPF5 p.Ser202Ala Uncertain significance Single submitter
- YIPF5 p.Ser45Leu Uncertain significance Single submitter
- YIPF5 p.Thr212Asn Uncertain significance Single submitter
- YIPF5 p.Thr63Ala Uncertain significance Single submitter
- YIPF5 p.Thr74Ile Uncertain significance Single submitter
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YIPF5 p.Val175Asp
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome 2
Predictors split 5
The independent predictors disagree with each other — read with care.
All YIPF5 variants
Pathogenic 2
- p.Ala181Val No assertion criteria microcephaly, epilepsy, and diabetes syndrome 2 ⚠
- p.Trp218Arg No assertion criteria microcephaly, epilepsy, and diabetes syndrome 2
Benign 2
- p.Ala76Val Single submitter
- p.Val256Ile Single submitter
Likely benign 1
- p.Cys244= Single submitter
Uncertain significance 28
- p.Val51Ile Multiple submitters ⚠
- p.Ala198Thr Single submitter ⚠
- p.Ala245Thr Single submitter ⚠
- p.Asp20Gly Single submitter ⚠
- p.Asp43Asn Single submitter ⚠
- p.Asp43Val Single submitter ⚠
- p.Cys179Phe Single submitter ⚠
- p.Gln21Arg Single submitter ⚠
- p.Glu94Asp Single submitter ⚠
- p.Gly174Cys Single submitter ⚠
- p.Gly205Glu Single submitter ⚠
- p.Gly3Val Single submitter ⚠
- p.Gly83Glu Single submitter ⚠
- p.Ile158Leu Single submitter ⚠
- p.Ile158Val Single submitter ⚠
- p.Ile200Val Single submitter ⚠
- p.Ile216Thr Single submitter ⚠
- p.Leu193Pro Single submitter ⚠
- p.Met172Thr Single submitter ⚠
- p.Met1Val Single submitter
- p.Pro53Ala Single submitter ⚠
- p.Ser202Ala Single submitter ⚠
- p.Ser45Leu Single submitter ⚠
- p.Ser45Trp Single submitter ⚠
- p.Thr212Asn Single submitter ⚠
- p.Thr63Ala Single submitter ⚠
- p.Thr74Ile Single submitter ⚠
- p.Val175Asp Single submitter microcephaly, epilepsy, and diabetes syndrome 2 ⚠