AMDHD2 — 64 ClinVar variants
All ClinVar germline AMDHD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
1 Likely benign · 63 Uncertain significance
Full AMDHD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMDHD2 c.*967C>G Uncertain significance Single submitter
- AMDHD2 p.Ala10Val Uncertain significance Single submitter
- AMDHD2 p.Ala258Ser Uncertain significance Single submitter
- AMDHD2 p.Arg149Gln Uncertain significance Single submitter
- AMDHD2 p.Arg243Cys Uncertain significance Single submitter
- AMDHD2 p.Asn303Ser Uncertain significance Single submitter
- AMDHD2 p.Cys206Ser Uncertain significance Single submitter
- AMDHD2 p.Gln363Pro Uncertain significance Single submitter
- AMDHD2 p.Glu4Gln Uncertain significance Single submitter
- AMDHD2 p.Gly23Arg Uncertain significance Single submitter
- AMDHD2 p.His133Gln Uncertain significance Single submitter
- AMDHD2 p.His141Tyr Uncertain significance Single submitter
- AMDHD2 p.Met335Thr Uncertain significance Single submitter
- AMDHD2 p.Ser225Arg Uncertain significance Single submitter
- AMDHD2 p.Ser397Ala Uncertain significance Single submitter
- AMDHD2 p.Thr104Ile Uncertain significance Single submitter
- AMDHD2 p.Thr109Ile Uncertain significance Single submitter
- AMDHD2 p.Thr346Arg Uncertain significance Single submitter
- AMDHD2 p.Thr84Ser Uncertain significance Single submitter
- AMDHD2 p.Val51Ala Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- AMDHD2 p.Ala10Thr Uncertain significance Single submitter
- AMDHD2 p.Ala135Ser Uncertain significance Single submitter
- AMDHD2 p.Ala92Thr Uncertain significance Single submitter
- AMDHD2 p.Arg11Cys Uncertain significance Single submitter
- AMDHD2 p.Arg161His Uncertain significance Single submitter
- AMDHD2 p.Arg203Cys Uncertain significance Single submitter
- AMDHD2 p.Arg217Trp Uncertain significance Single submitter
- AMDHD2 p.Arg260His Uncertain significance Single submitter
- AMDHD2 p.Arg279Gln Uncertain significance Single submitter
- AMDHD2 p.Arg283Cys Uncertain significance Single submitter
- AMDHD2 p.Arg2Cys Uncertain significance Single submitter
- AMDHD2 p.Arg56Trp Uncertain significance Single submitter
- AMDHD2 p.Arg96Trp Uncertain significance Single submitter
- AMDHD2 p.Arg97Met Uncertain significance Single submitter
- AMDHD2 p.Asp379Asn Uncertain significance Single submitter
- AMDHD2 p.Asp386Asn Uncertain significance Single submitter
- AMDHD2 p.Asp387Asn Uncertain significance Single submitter
- AMDHD2 p.Glu157Lys Uncertain significance Single submitter
- AMDHD2 p.Glu85Lys Uncertain significance Single submitter
- AMDHD2 p.Gly24Glu Uncertain significance Single submitter
- AMDHD2 p.Gly377Ser Uncertain significance Single submitter
- AMDHD2 p.Ile68Val Uncertain significance Single submitter
- AMDHD2 p.Leu364Phe Uncertain significance Single submitter
- AMDHD2 p.Met266Val Uncertain significance Single submitter
- AMDHD2 p.Pro132Ser Uncertain significance Single submitter
- AMDHD2 p.Pro286Arg Uncertain significance Single submitter
- AMDHD2 p.Pro334Ala Uncertain significance Single submitter
- AMDHD2 p.Ser162Phe Uncertain significance Single submitter
- AMDHD2 p.Ser193Gly Uncertain significance Single submitter
- AMDHD2 p.Thr16Ser Uncertain significance Single submitter
- AMDHD2 p.Val103Ile Uncertain significance Single submitter
- AMDHD2 p.Val292Ile Uncertain significance Single submitter
- AMDHD2 p.Val337Ile Uncertain significance Single submitter
- AMDHD2 p.Val33Gly Uncertain significance Single submitter
All AMDHD2 variants
Likely benign 1
- p.Leu186= Single submitter
Uncertain significance 63
- c.970+10C>T Single submitter
- c.970+19T>G Single submitter
- c.970+40C>T Single submitter
- c.970+7G>A Single submitter
- c.971-18G>A Single submitter
- c.971-27C>G Single submitter
- c.971-31C>T Single submitter
- c.971-34G>A Single submitter
- c.*719C>G Single submitter
- c.*967C>G Single submitter ⚠
- p.Ala10Thr Single submitter ⚠
- p.Ala10Val Single submitter ⚠
- p.Ala135Ser Single submitter ⚠
- p.Ala258Ser Single submitter ⚠
- p.Ala92Thr Single submitter ⚠
- p.Arg11Cys Single submitter ⚠
- p.Arg149Gln Single submitter ⚠
- p.Arg161His Single submitter ⚠
- p.Arg203Cys Single submitter ⚠
- p.Arg217Trp Single submitter ⚠
- p.Arg243Cys Single submitter ⚠
- p.Arg260His Single submitter ⚠
- p.Arg279Gln Single submitter ⚠
- p.Arg283Cys Single submitter ⚠
- p.Arg2Cys Single submitter ⚠
- p.Arg56Trp Single submitter ⚠
- p.Arg96Trp Single submitter ⚠
- p.Arg97Met Single submitter ⚠
- p.Asn303Ser Single submitter ⚠
- p.Asp379Asn Single submitter ⚠
- p.Asp386Asn Single submitter ⚠
- p.Asp387Asn Single submitter ⚠
- p.Cys206Ser Single submitter ⚠
- p.Gln363Pro Single submitter ⚠
- p.Glu157Lys Single submitter ⚠
- p.Glu4Gln Single submitter ⚠
- p.Glu85Lys Single submitter ⚠
- p.Gly23Arg Single submitter ⚠
- p.Gly24Glu Single submitter ⚠
- p.Gly377Ser Single submitter ⚠
- p.His133Gln Single submitter ⚠
- p.His141Tyr Single submitter ⚠
- p.Ile68Val Single submitter ⚠
- p.Leu364Phe Single submitter ⚠
- p.Met266Val Single submitter ⚠
- p.Met335Thr Single submitter ⚠
- p.Pro132Ser Single submitter ⚠
- p.Pro286Arg Single submitter ⚠
- p.Pro334Ala Single submitter ⚠
- p.Ser162Phe Single submitter ⚠
- p.Ser193Gly Single submitter ⚠
- p.Ser225Arg Single submitter ⚠
- p.Ser397Ala Single submitter ⚠
- p.Thr104Ile Single submitter ⚠
- p.Thr109Ile Single submitter ⚠
- p.Thr16Ser Single submitter ⚠
- p.Thr346Arg Single submitter ⚠
- p.Thr84Ser Single submitter ⚠
- p.Val103Ile Single submitter ⚠
- p.Val292Ile Single submitter ⚠
- p.Val337Ile Single submitter ⚠
- p.Val33Gly Single submitter ⚠
- p.Val51Ala Single submitter ⚠