ABCG1 — 92 ClinVar variants
All ClinVar germline ABCG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
17 Benign · 11 Likely benign · 64 Uncertain significance
Full ABCG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABCG1 c.1122+24G>C Uncertain significance Single submitter
- ABCG1 c.1122+2T>C Uncertain significance Single submitter
- ABCG1 p.Arg298Gln Uncertain significance Single submitter
- ABCG1 p.Arg355Gly Uncertain significance Single submitter
- ABCG1 p.Arg370Gln Uncertain significance Single submitter
- ABCG1 p.Arg414Cys Uncertain significance Single submitter
- ABCG1 p.Arg627Gln Uncertain significance Single submitter
- ABCG1 p.Asn442Ser Uncertain significance Single submitter
- ABCG1 p.Asp241Asn Uncertain significance Single submitter
- ABCG1 p.Asp350Val Uncertain significance Single submitter
- ABCG1 p.Asp575Asn Uncertain significance Single submitter
- ABCG1 p.Glu25Gly Uncertain significance Single submitter
- ABCG1 p.Glu362Lys Uncertain significance Single submitter
- ABCG1 p.Gly219Ala Uncertain significance Single submitter
- ABCG1 p.Gly381Asp Uncertain significance Single submitter
- ABCG1 p.Gly544Arg Uncertain significance Single submitter
- ABCG1 p.Gly557Asp Uncertain significance Single submitter
- ABCG1 p.Ile269Thr Uncertain significance Single submitter
- ABCG1 p.Leu428Pro Uncertain significance Single submitter
- ABCG1 p.Met14Val Uncertain significance Single submitter
- ABCG1 p.Met348Ile Uncertain significance Single submitter
- ABCG1 p.Phe108Leu Uncertain significance Single submitter
- ABCG1 p.Pro170Leu Uncertain significance Single submitter
- ABCG1 p.Pro558Leu Uncertain significance Single submitter
- ABCG1 p.Pro563Leu Uncertain significance Single submitter
- ABCG1 p.Ser181Pro Uncertain significance Single submitter
- ABCG1 p.Ser245Arg Uncertain significance Single submitter
- ABCG1 p.Ser28Leu Uncertain significance Single submitter
- ABCG1 p.Ser32Ala Uncertain significance Single submitter
- ABCG1 p.Ser377Leu Uncertain significance Single submitter
- ABCG1 p.Ser408Leu Uncertain significance Single submitter
- ABCG1 p.Ser568Leu Uncertain significance Single submitter
- ABCG1 p.Ser9Leu Uncertain significance Single submitter
- ABCG1 p.Thr137Ala Uncertain significance Single submitter
- ABCG1 p.Thr24Met Uncertain significance Single submitter
- ABCG1 p.Thr317Ser Uncertain significance Single submitter
- ABCG1 p.Thr46Met Uncertain significance Single submitter
- ABCG1 p.Tyr307His Uncertain significance Single submitter
- ABCG1 p.Val296Met Uncertain significance Single submitter
- ABCG1 p.Val344Leu Uncertain significance Single submitter
- ABCG1 p.Val363Ala Uncertain significance Single submitter
- ABCG1 p.Val36Met Uncertain significance Single submitter
- ABCG1 p.Val509Met Uncertain significance Single submitter
- ABCG1 p.Val520Met Uncertain significance Single submitter
- ABCG1 p.Val556Met Uncertain significance Single submitter
- ABCG1 p.Val75Gly Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- ABCG1 c.1122+21A>C Uncertain significance Single submitter
- ABCG1 p.Ala546Thr Uncertain significance Single submitter
- ABCG1 p.Arg222Cys Uncertain significance Single submitter
- ABCG1 p.Arg222His Uncertain significance Single submitter
- ABCG1 p.Arg345Trp Uncertain significance Single submitter
- ABCG1 p.Arg370Trp Uncertain significance Single submitter
- ABCG1 p.Asp518Asn Uncertain significance Single submitter
- ABCG1 p.Gly215Arg Uncertain significance Single submitter
- ABCG1 p.Ile116Val Uncertain significance Single submitter
- ABCG1 p.Leu636Val Uncertain significance Single submitter
- ABCG1 p.Met117Leu Uncertain significance Single submitter
- ABCG1 p.Met348Thr Uncertain significance Single submitter
- ABCG1 p.Met492Ile Uncertain significance Single submitter
- ABCG1 p.Ser408Trp Uncertain significance Single submitter
- ABCG1 p.Val495Met Uncertain significance Single submitter
- ABCG1 p.Val631Ala Uncertain significance Single submitter
-
ABCG1 p.Phe640Leu
Uncertain significance
No assertion criteria
ABCG1-related disorder
All ABCG1 variants
Benign 17
- p.Ala456= Multiple submitters
- p.Pro149= Multiple submitters
- p.Ser547= Multiple submitters
- c.286+4G>A Single submitter
- c.538-6C>T No assertion criteria ABCG1-related disorder
- c.-38GCC[11] No assertion criteria ABCG1-related disorder
- c.-38GCC[12] No assertion criteria ABCG1-related disorder
- c.-38GCC[15] No assertion criteria ABCG1-related disorder
- c.-38GCC[6] No assertion criteria ABCG1-related disorder
- c.-38GCC[8] No assertion criteria ABCG1-related disorder
- c.-38GCC[9] No assertion criteria ABCG1-related disorder
- p.Cys3= No assertion criteria ABCG1-related disorder
- p.Gly331= No assertion criteria ABCG1-related disorder
- p.Gly358Arg No assertion criteria ABCG1-related disorder
- p.Leu113= No assertion criteria ABCG1-related disorder
- p.Phe574= No assertion criteria ABCG1-related disorder
- p.Thr4= No assertion criteria ABCG1-related disorder
Likely benign 11
- p.Leu643= Multiple submitters
- p.Ser245= Single submitter
- p.Ser408= Single submitter
- c.-38GCC[5] No assertion criteria ABCG1-related disorder
- p.Ala203= No assertion criteria ABCG1-related disorder
- p.Asp614= No assertion criteria ABCG1-related disorder
- p.Phe448= No assertion criteria ABCG1-related disorder
- p.Ser257= No assertion criteria ABCG1-related disorder
- p.Thr391= No assertion criteria ABCG1-related disorder
- p.Thr46= No assertion criteria ABCG1-related disorder
- p.Thr61= No assertion criteria ABCG1-related disorder
Uncertain significance 64
- c.1122+21A>C Single submitter ⚠
- c.1122+24G>C Single submitter ⚠
- c.1122+2T>C Single submitter ⚠
- p.Ala546Thr Single submitter ⚠
- p.Arg222Cys Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg298Gln Single submitter ⚠
- p.Arg345Trp Single submitter ⚠
- p.Arg355Gly Single submitter ⚠
- p.Arg370Gln Single submitter ⚠
- p.Arg370Trp Single submitter ⚠
- p.Arg414Cys Single submitter ⚠
- p.Arg627Gln Single submitter ⚠
- p.Asn442Ser Single submitter ⚠
- p.Asp241Asn Single submitter ⚠
- p.Asp350Val Single submitter ⚠
- p.Asp518Asn Single submitter ⚠
- p.Asp575Asn Single submitter ⚠
- p.Glu25Gly Single submitter ⚠
- p.Glu362Lys Single submitter ⚠
- p.Gly215Arg Single submitter ⚠
- p.Gly219Ala Single submitter ⚠
- p.Gly381Asp Single submitter ⚠
- p.Gly544Arg Single submitter ⚠
- p.Gly557Asp Single submitter ⚠
- p.Ile116Val Single submitter ⚠
- p.Ile269Thr Single submitter ⚠
- p.Leu428Pro Single submitter ⚠
- p.Leu636Val Single submitter ⚠
- p.Met117Leu Single submitter ⚠
- p.Met14Val Single submitter ⚠
- p.Met348Ile Single submitter ⚠
- p.Met348Thr Single submitter ⚠
- p.Met492Ile Single submitter ⚠
- p.Phe108Leu Single submitter ⚠
- p.Pro170Leu Single submitter ⚠
- p.Pro558Leu Single submitter ⚠
- p.Pro563Leu Single submitter ⚠
- p.Ser181Pro Single submitter ⚠
- p.Ser245Arg Single submitter ⚠
- p.Ser28Leu Single submitter ⚠
- p.Ser32Ala Single submitter ⚠
- p.Ser377Leu Single submitter ⚠
- p.Ser408Leu Single submitter ⚠
- p.Ser408Trp Single submitter ⚠
- p.Ser568Leu Single submitter ⚠
- p.Ser9Leu Single submitter ⚠
- p.Thr137Ala Single submitter ⚠
- p.Thr24Met Single submitter ⚠
- p.Thr317Ser Single submitter ⚠
- p.Thr46Met Single submitter ⚠
- p.Thr8Ala Single submitter
- p.Tyr307His Single submitter ⚠
- p.Val296Met Single submitter ⚠
- p.Val344Leu Single submitter ⚠
- p.Val363Ala Single submitter ⚠
- p.Val36Met Single submitter ⚠
- p.Val495Met Single submitter ⚠
- p.Val509Met Single submitter ⚠
- p.Val520Met Single submitter ⚠
- p.Val556Met Single submitter ⚠
- p.Val631Ala Single submitter ⚠
- p.Val75Gly Single submitter ⚠
- p.Phe640Leu No assertion criteria ABCG1-related disorder ⚠