CEP70 — 83 ClinVar variants
All ClinVar germline CEP70 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
6 Likely benign · 77 Uncertain significance
Full CEP70 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 76
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 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CEP70 p.Ala198Val Uncertain significance Single submitter
- CEP70 p.Ala251Thr Uncertain significance Single submitter
- CEP70 p.Ala588Ser Uncertain significance Single submitter
- CEP70 p.Ala5Pro Uncertain significance Single submitter
- CEP70 p.Arg165Gln Uncertain significance Single submitter
- CEP70 p.Arg165Gly Uncertain significance Single submitter
- CEP70 p.Arg203Lys Uncertain significance Single submitter
- CEP70 p.Arg49Lys Uncertain significance Single submitter
- CEP70 p.Arg504Lys Uncertain significance Single submitter
- CEP70 p.Asn282Lys Uncertain significance Single submitter
- CEP70 p.Asn453Ser Uncertain significance Single submitter
- CEP70 p.Asn490Ser Uncertain significance Single submitter
- CEP70 p.Asp146Glu Uncertain significance Single submitter
- CEP70 p.Asp188Asn Uncertain significance Single submitter
- CEP70 p.Asp218Asn Uncertain significance Single submitter
- CEP70 p.Asp478His Uncertain significance Single submitter
- CEP70 p.Asp513Gly Uncertain significance Single submitter
- CEP70 p.Gln23Glu Uncertain significance Single submitter
- CEP70 p.Gln371His Uncertain significance Single submitter
- CEP70 p.Gln550Arg Uncertain significance Single submitter
- CEP70 p.Gln567Arg Uncertain significance Single submitter
- CEP70 p.Glu130Lys Uncertain significance Single submitter
- CEP70 p.Glu511Asp Uncertain significance Single submitter
- CEP70 p.Glu558Lys Uncertain significance Single submitter
- CEP70 p.Gly257Val Uncertain significance Single submitter
- CEP70 p.Gly388Val Uncertain significance Single submitter
- CEP70 p.Gly434Val Uncertain significance Single submitter
- CEP70 p.His139Tyr Uncertain significance Single submitter
- CEP70 p.His294Arg Uncertain significance Single submitter
- CEP70 p.His39Arg Uncertain significance Single submitter
- CEP70 p.His462Arg Uncertain significance Single submitter
- CEP70 p.Ile217Val Uncertain significance Single submitter
- CEP70 p.Ile224Val Uncertain significance Single submitter
- CEP70 p.Ile344Thr Uncertain significance Single submitter
- CEP70 p.Ile552Val Uncertain significance Single submitter
- CEP70 p.Ile56Val Uncertain significance Single submitter
-
CEP70 p.Ile88Met
Uncertain significance
Single submitter
Median cleft lip and palate
- CEP70 p.Ile88Val Uncertain significance Single submitter
- CEP70 p.Leu18Ile Uncertain significance Single submitter
- CEP70 p.Lys305Arg Uncertain significance Single submitter
- CEP70 p.Lys330Thr Uncertain significance Single submitter
- CEP70 p.Lys381Thr Uncertain significance Single submitter
- CEP70 p.Lys411Glu Uncertain significance Single submitter
- CEP70 p.Met83Thr Uncertain significance Single submitter
- CEP70 p.Phe463Leu Uncertain significance Single submitter
- CEP70 p.Pro3Leu Uncertain significance Single submitter
- CEP70 p.Pro461Leu Uncertain significance Single submitter
- CEP70 p.Pro8Thr Uncertain significance Single submitter
- CEP70 p.Ser103Ile Uncertain significance Single submitter
- CEP70 p.Ser121Asn Uncertain significance Single submitter
- CEP70 p.Ser458Gly Uncertain significance Single submitter
- CEP70 p.Thr254Asn Uncertain significance Single submitter
- CEP70 p.Thr404Ile Uncertain significance Single submitter
- CEP70 p.Thr446Ser Uncertain significance Single submitter
- CEP70 p.Val208Phe Uncertain significance Single submitter
- CEP70 p.Val366Leu Uncertain significance Single submitter
- CEP70 p.Val47Ala Uncertain significance Single submitter
- CEP70 p.Val4Leu Uncertain significance Single submitter
- CEP70 p.Val522Ile Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CEP70 p.Arg189His Uncertain significance Single submitter
- CEP70 p.Arg488Gln Uncertain significance Single submitter
- CEP70 p.Asn142Ile Uncertain significance Single submitter
- CEP70 p.Gln263His Uncertain significance Single submitter
- CEP70 p.Glu132Gly Uncertain significance Single submitter
- CEP70 p.Gly497Arg Uncertain significance Single submitter
- CEP70 p.Ile126Thr Uncertain significance Single submitter
- CEP70 p.Ile396Thr Uncertain significance Single submitter
- CEP70 p.Ile443Arg Uncertain significance Single submitter
- CEP70 p.Leu509His Likely benign Single submitter
- CEP70 p.Leu510Ile Uncertain significance Single submitter
- CEP70 p.Lys162Thr Uncertain significance Single submitter
- CEP70 p.Lys285Thr Uncertain significance Single submitter
- CEP70 p.Ser514Cys Uncertain significance Single submitter
- CEP70 p.Thr524Pro Uncertain significance Single submitter
- CEP70 p.Val303Met Uncertain significance Single submitter
- CEP70 p.Val479Met Uncertain significance Single submitter
All CEP70 variants
Likely benign 6
- p.Ala137Val Single submitter
- p.Leu509His Single submitter ⚠
- p.Lys475= Single submitter
- p.Pro362Ala Single submitter
- p.Thr166Met Single submitter
- p.Thr415Ile Single submitter
Uncertain significance 77
- c.1732+103G>C Single submitter Median cleft lip and palate
- c.1732+104_1732+108del Single submitter Median cleft lip and palate
- p.Ala198Val Single submitter ⚠
- p.Ala251Thr Single submitter ⚠
- p.Ala588Ser Single submitter ⚠
- p.Ala5Pro Single submitter ⚠
- p.Arg165Gln Single submitter ⚠
- p.Arg165Gly Single submitter ⚠
- p.Arg189His Single submitter ⚠
- p.Arg203Lys Single submitter ⚠
- p.Arg488Gln Single submitter ⚠
- p.Arg49Lys Single submitter ⚠
- p.Arg504Lys Single submitter ⚠
- p.Asn142Ile Single submitter ⚠
- p.Asn282Lys Single submitter ⚠
- p.Asn453Ser Single submitter ⚠
- p.Asn490Ser Single submitter ⚠
- p.Asp146Glu Single submitter ⚠
- p.Asp188Asn Single submitter ⚠
- p.Asp218Asn Single submitter ⚠
- p.Asp478His Single submitter ⚠
- p.Asp513Gly Single submitter ⚠
- p.Gln23Glu Single submitter ⚠
- p.Gln263His Single submitter ⚠
- p.Gln371His Single submitter ⚠
- p.Gln550Arg Single submitter ⚠
- p.Gln567Arg Single submitter ⚠
- p.Glu130Lys Single submitter ⚠
- p.Glu132Gly Single submitter ⚠
- p.Glu511Asp Single submitter ⚠
- p.Glu558Lys Single submitter ⚠
- p.Gly257Val Single submitter ⚠
- p.Gly388Val Single submitter ⚠
- p.Gly434Val Single submitter ⚠
- p.Gly497Arg Single submitter ⚠
- p.His139Tyr Single submitter ⚠
- p.His294Arg Single submitter ⚠
- p.His39Arg Single submitter ⚠
- p.His462Arg Single submitter ⚠
- p.Ile126Thr Single submitter ⚠
- p.Ile217Val Single submitter ⚠
- p.Ile224Val Single submitter ⚠
- p.Ile344Thr Single submitter ⚠
- p.Ile396Thr Single submitter ⚠
- p.Ile443Arg Single submitter ⚠
- p.Ile552Val Single submitter ⚠
- p.Ile56Val Single submitter ⚠
- p.Ile88Met Single submitter Median cleft lip and palate ⚠
- p.Ile88Val Single submitter ⚠
- p.Leu18Ile Single submitter ⚠
- p.Leu510Ile Single submitter ⚠
- p.Lys162Thr Single submitter ⚠
- p.Lys285Thr Single submitter ⚠
- p.Lys305Arg Single submitter ⚠
- p.Lys330Thr Single submitter ⚠
- p.Lys381Thr Single submitter ⚠
- p.Lys411Glu Single submitter ⚠
- p.Met83Thr Single submitter ⚠
- p.Phe463Leu Single submitter ⚠
- p.Pro3Leu Single submitter ⚠
- p.Pro461Leu Single submitter ⚠
- p.Pro8Thr Single submitter ⚠
- p.Ser103Ile Single submitter ⚠
- p.Ser121Asn Single submitter ⚠
- p.Ser458Gly Single submitter ⚠
- p.Ser514Cys Single submitter ⚠
- p.Thr254Asn Single submitter ⚠
- p.Thr404Ile Single submitter ⚠
- p.Thr446Ser Single submitter ⚠
- p.Thr524Pro Single submitter ⚠
- p.Val208Phe Single submitter ⚠
- p.Val303Met Single submitter ⚠
- p.Val366Leu Single submitter ⚠
- p.Val479Met Single submitter ⚠
- p.Val47Ala Single submitter ⚠
- p.Val4Leu Single submitter ⚠
- p.Val522Ile Single submitter ⚠