AMBN — 91 ClinVar variants
All ClinVar germline AMBN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 13 Benign · 1 Benign/Likely benign · 10 Likely benign · 61 Uncertain significance
Full AMBN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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.
-
AMBN p.Ala26Thr
Likely pathogenic
No assertion criteria
amelogenesis imperfecta type 1F
Predictors lean, ClinVar uncertain 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMBN p.Ala139Glu Uncertain significance Single submitter
- AMBN p.Ala184Pro Uncertain significance Single submitter
- AMBN p.Ala340Asp Uncertain significance Single submitter
- AMBN p.Ala392Pro Uncertain significance Single submitter
- AMBN p.Ala412Pro Uncertain significance Single submitter
- AMBN p.Arg222His Uncertain significance Single submitter
- AMBN p.Arg269Lys Uncertain significance Single submitter
- AMBN p.Asn318Asp Uncertain significance Single submitter
- AMBN p.Asn338His Uncertain significance Single submitter
- AMBN p.Gln119Pro Uncertain significance Single submitter
- AMBN p.Gln136Lys Uncertain significance Single submitter
- AMBN p.Gln49His Uncertain significance Single submitter
- AMBN p.Gln49Pro Uncertain significance Single submitter
- AMBN p.Glu177Lys Uncertain significance Single submitter
- AMBN p.Glu319Lys Uncertain significance Single submitter
- AMBN p.Gly227Arg Uncertain significance Single submitter
- AMBN p.Gly315Asp Uncertain significance Single submitter
- AMBN p.Gly68Arg Uncertain significance Single submitter
- AMBN p.His439Arg Uncertain significance Single submitter
- AMBN p.His77Tyr Uncertain significance Single submitter
- AMBN p.His94Arg Uncertain significance Single submitter
- AMBN p.Ile259Asn Uncertain significance Single submitter
- AMBN p.Leu237Phe Uncertain significance Single submitter
- AMBN p.Leu242Ser Uncertain significance Single submitter
- AMBN p.Leu345Arg Uncertain significance Single submitter
- AMBN p.Met260Val Uncertain significance Single submitter
- AMBN p.Met372Val Uncertain significance Single submitter
- AMBN p.Met387Val Uncertain significance Single submitter
- AMBN p.Met402Lys Uncertain significance Single submitter
- AMBN p.Met438Ile Uncertain significance Single submitter
- AMBN p.Phe218Ser Uncertain significance Single submitter
- AMBN p.Pro239Ser Uncertain significance Single submitter
- AMBN p.Pro420Ser Uncertain significance Single submitter
- AMBN p.Pro447Leu Uncertain significance Single submitter
- AMBN p.Ser308Pro Uncertain significance Single submitter
- AMBN p.Ser41Gly Uncertain significance Single submitter
- AMBN p.Ser70Pro Uncertain significance Single submitter
- AMBN p.Val163Asp Uncertain significance Single submitter
- AMBN p.Val181Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- AMBN p.Arg222Cys Uncertain significance Single submitter
- AMBN p.Arg48Ser Uncertain significance Single submitter
- AMBN p.Asp182Glu Uncertain significance Single submitter
- AMBN p.Gly193Glu Uncertain significance Single submitter
- AMBN p.Gly201Ser Uncertain significance Single submitter
- AMBN p.Gly267Cys Uncertain significance Single submitter
- AMBN p.Met285Ile Benign Single submitter
- AMBN p.Met76Ile Benign Single submitter
- AMBN p.Phe183Ser Uncertain significance Single submitter
- AMBN p.Phe306Leu Uncertain significance Single submitter
- AMBN p.Phe30Leu Uncertain significance Single submitter
- AMBN p.Pro245Ser Likely benign Single submitter
- AMBN p.Pro280Ser Uncertain significance Single submitter
- AMBN p.Pro87Ala Uncertain significance Single submitter
- AMBN p.Ser115Cys Uncertain significance Single submitter
- AMBN p.Ser41Arg Uncertain significance Single submitter
- AMBN p.Trp442Arg Uncertain significance Single submitter
-
AMBN p.Tyr99His
Uncertain significance
Single submitter
amelogenesis imperfecta type 1F
- AMBN p.Val181Ala Likely benign Single submitter
-
AMBN p.Gly78Val
Benign
No assertion criteria
AMBN-related disorder
All AMBN variants
Pathogenic 3
- c.294+140_531+479del No assertion criteria amelogenesis imperfecta type 1F
- c.532-1G>C No assertion criteria amelogenesis imperfecta type 1F
- p.Val181fs No assertion criteria amelogenesis imperfecta type 1F
Likely pathogenic 2
- c.295-2A>C Single submitter
- p.Ala26Thr No assertion criteria amelogenesis imperfecta type 1F ⚠
Conflicting classifications of pathogenicity 1
- c.571-1G>C Single submitter amelogenesis imperfecta type 1F
Benign 13
- p.Leu354Pro Multiple submitters
- p.Val378Ile Multiple submitters
- c.570+9A>T Single submitter
- p.Lys358= Single submitter
- p.Met285Ile Single submitter ⚠
- p.Met76Ile Single submitter ⚠
- p.Ser377= Single submitter
- p.Ala255Val No assertion criteria AMBN-related disorder
- p.Ala441= No assertion criteria AMBN-related disorder
- p.Gln219= No assertion criteria AMBN-related disorder
- p.Gly180del No assertion criteria AMBN-related disorder
- p.Gly78Val No assertion criteria AMBN-related disorder ⚠
- p.Val244Met No assertion criteria AMBN-related disorder
Benign/Likely benign 1
- p.His294Gln Multiple submitters amelogenesis imperfecta type 1F
Likely benign 10
- p.Gly268Arg Multiple submitters
- p.Glu317Ala Single submitter
- p.Gly38= Single submitter
- p.Pro245Ser Single submitter ⚠
- p.Pro287= Single submitter
- p.Pro435= Single submitter
- p.Val163Ile Single submitter
- p.Val181Ala Single submitter ⚠
- c.532-9G>C No assertion criteria AMBN-related disorder
- c.753+3A>G No assertion criteria AMBN-related disorder
Uncertain significance 61
- p.Ser70Ter Multiple submitters amelogenesis imperfecta type 1F
- c.15+1G>A Single submitter amelogenesis imperfecta type 1F
- p.Ala139Glu Single submitter ⚠
- p.Ala184Pro Single submitter ⚠
- p.Ala340Asp Single submitter ⚠
- p.Ala392Pro Single submitter ⚠
- p.Ala412Pro Single submitter ⚠
- p.Arg222Cys Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg269Lys Single submitter ⚠
- p.Arg48Ser Single submitter ⚠
- p.Asn318Asp Single submitter ⚠
- p.Asn338His Single submitter ⚠
- p.Asp182Glu Single submitter ⚠
- p.Gln119Pro Single submitter ⚠
- p.Gln120= Single submitter
- p.Gln136Lys Single submitter ⚠
- p.Gln49His Single submitter ⚠
- p.Gln49Pro Single submitter ⚠
- p.Glu177Lys Single submitter ⚠
- p.Glu264fs Single submitter
- p.Glu319Lys Single submitter ⚠
- p.Gly193Glu Single submitter ⚠
- p.Gly193Ter Single submitter amelogenesis imperfecta type 1F
- p.Gly201Ser Single submitter ⚠
- p.Gly227Arg Single submitter ⚠
- p.Gly267Cys Single submitter ⚠
- p.Gly315Asp Single submitter ⚠
- p.Gly68Arg Single submitter ⚠
- p.His439Arg Single submitter ⚠
- p.His77Tyr Single submitter ⚠
- p.His94Arg Single submitter ⚠
- p.Ile259Asn Single submitter ⚠
- p.Leu237Phe Single submitter ⚠
- p.Leu242Ser Single submitter ⚠
- p.Leu345Arg Single submitter ⚠
- p.Leu423fs Single submitter amelogenesis imperfecta type 1F
- p.Met260Val Single submitter ⚠
- p.Met372Val Single submitter ⚠
- p.Met387Val Single submitter ⚠
- p.Met402Lys Single submitter ⚠
- p.Met438Ile Single submitter ⚠
- p.Phe183Ser Single submitter ⚠
- p.Phe218Ser Single submitter ⚠
- p.Phe306Leu Single submitter ⚠
- p.Phe30Leu Single submitter ⚠
- p.Pro239Ser Single submitter ⚠
- p.Pro280Ser Single submitter ⚠
- p.Pro420Ser Single submitter ⚠
- p.Pro447Leu Single submitter ⚠
- p.Pro87Ala Single submitter ⚠
- p.Ser115Cys Single submitter ⚠
- p.Ser308Pro Single submitter ⚠
- p.Ser41Arg Single submitter ⚠
- p.Ser41Gly Single submitter ⚠
- p.Ser70Pro Single submitter ⚠
- p.Trp442Arg Single submitter ⚠
- p.Trp442Ter Single submitter
- p.Tyr99His Single submitter amelogenesis imperfecta type 1F ⚠
- p.Val163Asp Single submitter ⚠
- p.Val181Ile Single submitter ⚠