AMBP — 69 ClinVar variants
All ClinVar germline AMBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
1 Conflicting · 1 Benign · 6 Likely benign · 61 Uncertain significance
Full AMBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMBP p.Ala13Thr Uncertain significance Single submitter
- AMBP p.Ala255Thr Uncertain significance Single submitter
- AMBP p.Arg185Gln Uncertain significance Single submitter
- AMBP p.Arg185Gly Uncertain significance Single submitter
- AMBP p.Arg293Gln Uncertain significance Single submitter
- AMBP p.Arg2Lys Uncertain significance Single submitter
- AMBP p.Arg334Thr Uncertain significance Single submitter
- AMBP p.Arg39Gln Uncertain significance Single submitter
- AMBP p.Asn115Lys Uncertain significance Single submitter
- AMBP p.Asn288Thr Uncertain significance Single submitter
- AMBP p.Asp61Asn Uncertain significance Single submitter
- AMBP p.Cys337Arg Uncertain significance Single submitter
- AMBP p.Gln30His Uncertain significance Single submitter
- AMBP p.Glu332Lys Uncertain significance Single submitter
- AMBP p.Gly216Val Uncertain significance Single submitter
- AMBP p.Gly294Ala Uncertain significance Single submitter
- AMBP p.Gly322Asp Uncertain significance Single submitter
- AMBP p.Gly341Asp Uncertain significance Single submitter
- AMBP p.Gly343Asp Uncertain significance Single submitter
- AMBP p.His141Tyr Uncertain significance Single submitter
- AMBP p.His142Arg Uncertain significance Single submitter
- AMBP p.Ile291Thr Uncertain significance Single submitter
- AMBP p.Ile300Met Uncertain significance Single submitter
- AMBP p.Ile40Asn Uncertain significance Single submitter
- AMBP p.Ile49Met Uncertain significance Single submitter
- AMBP p.Leu150Phe Uncertain significance Single submitter
- AMBP p.Leu15Val Uncertain significance Single submitter
- AMBP p.Lys226Arg Uncertain significance Single submitter
- AMBP p.Met60Thr Uncertain significance Single submitter
- AMBP p.Ser236Leu Uncertain significance Single submitter
- AMBP p.Ser51Phe Uncertain significance Single submitter
- AMBP p.Thr225Asn Uncertain significance Single submitter
- AMBP p.Thr64Ala Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- AMBP p.Ala19Val Uncertain significance Single submitter
- AMBP p.Ala285Val Uncertain significance Single submitter
- AMBP p.Ala304Thr Uncertain significance Single submitter
- AMBP p.Ala48Thr Uncertain significance Single submitter
- AMBP p.Ala74Thr Uncertain significance Single submitter
- AMBP p.Arg282Gln Uncertain significance Single submitter
- AMBP p.Arg293Trp Uncertain significance Single submitter
- AMBP p.Arg85His Likely benign Single submitter
- AMBP p.Arg87Trp Uncertain significance Single submitter
- AMBP p.Asp27Asn Uncertain significance Single submitter
- AMBP p.Glu194Gly Uncertain significance Single submitter
- AMBP p.Glu212Lys Uncertain significance Single submitter
- AMBP p.Glu276Gln Uncertain significance Single submitter
- AMBP p.Gly262Ser Uncertain significance Single submitter
- AMBP p.Gly268Ser Likely benign Single submitter
- AMBP p.Gly5Arg Conflicting Single submitter
- AMBP p.Gly73Asp Uncertain significance Single submitter
- AMBP p.His142Asn Uncertain significance Single submitter
- AMBP p.Lys326Asn Uncertain significance Single submitter
- AMBP p.Lys58Met Uncertain significance Single submitter
- AMBP p.Met182Thr Uncertain significance Single submitter
- AMBP p.Met265Ile Uncertain significance Single submitter
- AMBP p.Met63Ile Uncertain significance Single submitter
- AMBP p.Met81Thr Likely benign Single submitter
- AMBP p.Pro197Leu Uncertain significance Single submitter
- AMBP p.Pro239Leu Uncertain significance Single submitter
- AMBP p.Pro23Ala Uncertain significance Single submitter
- AMBP p.Pro25Arg Uncertain significance Single submitter
- AMBP p.Pro295Leu Uncertain significance Single submitter
- AMBP p.Thr252Ile Uncertain significance Single submitter
- AMBP p.Tyr121Cys Uncertain significance Single submitter
- AMBP p.Tyr247His Uncertain significance Single submitter
All AMBP variants
Benign 1
- c.556+6T>C Single submitter
Likely benign 6
- p.Arg85His Single submitter ⚠
- p.Gly268Ser Single submitter ⚠
- p.His141Arg Single submitter
- p.Met81Thr Single submitter ⚠
- p.Pro25= Single submitter
- p.Ser236Ala Single submitter
Uncertain significance 61
- p.Ala13Thr Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala255Thr Single submitter ⚠
- p.Ala285Val Single submitter ⚠
- p.Ala304Thr Single submitter ⚠
- p.Ala48Thr Single submitter ⚠
- p.Ala74Thr Single submitter ⚠
- p.Arg185Gln Single submitter ⚠
- p.Arg185Gly Single submitter ⚠
- p.Arg282Gln Single submitter ⚠
- p.Arg293Gln Single submitter ⚠
- p.Arg293Trp Single submitter ⚠
- p.Arg2Lys Single submitter ⚠
- p.Arg334Thr Single submitter ⚠
- p.Arg39Gln Single submitter ⚠
- p.Arg87Trp Single submitter ⚠
- p.Asn115Lys Single submitter ⚠
- p.Asn288Thr Single submitter ⚠
- p.Asp27Asn Single submitter ⚠
- p.Asp61Asn Single submitter ⚠
- p.Cys337Arg Single submitter ⚠
- p.Gln30His Single submitter ⚠
- p.Glu194Gly Single submitter ⚠
- p.Glu212Lys Single submitter ⚠
- p.Glu276Gln Single submitter ⚠
- p.Glu332Lys Single submitter ⚠
- p.Gly216Val Single submitter ⚠
- p.Gly262Ser Single submitter ⚠
- p.Gly294Ala Single submitter ⚠
- p.Gly322Asp Single submitter ⚠
- p.Gly341Asp Single submitter ⚠
- p.Gly343Asp Single submitter ⚠
- p.Gly73Asp Single submitter ⚠
- p.His141Tyr Single submitter ⚠
- p.His142Arg Single submitter ⚠
- p.His142Asn Single submitter ⚠
- p.Ile291Thr Single submitter ⚠
- p.Ile300Met Single submitter ⚠
- p.Ile40Asn Single submitter ⚠
- p.Ile49Met Single submitter ⚠
- p.Leu150Phe Single submitter ⚠
- p.Leu15Val Single submitter ⚠
- p.Lys226Arg Single submitter ⚠
- p.Lys326Asn Single submitter ⚠
- p.Lys58Met Single submitter ⚠
- p.Met182Thr Single submitter ⚠
- p.Met265Ile Single submitter ⚠
- p.Met60Thr Single submitter ⚠
- p.Met63Ile Single submitter ⚠
- p.Pro197Leu Single submitter ⚠
- p.Pro239Leu Single submitter ⚠
- p.Pro23Ala Single submitter ⚠
- p.Pro25Arg Single submitter ⚠
- p.Pro295Leu Single submitter ⚠
- p.Ser236Leu Single submitter ⚠
- p.Ser51Phe Single submitter ⚠
- p.Thr225Asn Single submitter ⚠
- p.Thr252Ile Single submitter ⚠
- p.Thr64Ala Single submitter ⚠
- p.Tyr121Cys Single submitter ⚠
- p.Tyr247His Single submitter ⚠