HDLBP — 172 ClinVar variants
All ClinVar germline HDLBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
15 Benign · 26 Likely benign · 131 Uncertain significance
Full HDLBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HDLBP p.Ala1024Thr Uncertain significance Single submitter
- HDLBP p.Ala1073Thr Uncertain significance Single submitter
- HDLBP p.Ala1168Asp Uncertain significance Single submitter
- HDLBP p.Ala1219Gly Uncertain significance Single submitter
- HDLBP p.Ala1235Thr Uncertain significance Single submitter
- HDLBP p.Ala232Val Uncertain significance Single submitter
- HDLBP p.Ala238Thr Uncertain significance Single submitter
- HDLBP p.Ala27Asp Uncertain significance Single submitter
- HDLBP p.Ala57Val Uncertain significance Single submitter
- HDLBP p.Ala765Val Uncertain significance Single submitter
- HDLBP p.Ala792Ser Uncertain significance Single submitter
- HDLBP p.Ala792Thr Uncertain significance Single submitter
- HDLBP p.Arg1079Gln Uncertain significance Single submitter
- HDLBP p.Arg1079Trp Uncertain significance Single submitter
- HDLBP p.Arg1146Cys Uncertain significance Single submitter
- HDLBP p.Arg1151Ser Uncertain significance Single submitter
- HDLBP p.Arg188Cys Uncertain significance Single submitter
- HDLBP p.Arg377His Uncertain significance Single submitter
- HDLBP p.Arg633Gln Uncertain significance Single submitter
- HDLBP p.Arg677Cys Uncertain significance Single submitter
- HDLBP p.Arg818Cys Uncertain significance Single submitter
- HDLBP p.Arg862His Uncertain significance Single submitter
- HDLBP p.Arg956Gln Uncertain significance Single submitter
- HDLBP p.Arg956Trp Uncertain significance Single submitter
- HDLBP p.Asn30Lys Uncertain significance Single submitter
- HDLBP p.Asn927His Uncertain significance Single submitter
- HDLBP p.Asp1093Asn Uncertain significance Single submitter
- HDLBP p.Asp1131Glu Uncertain significance Single submitter
- HDLBP p.Asp36Asn Uncertain significance Single submitter
- HDLBP p.Asp698Asn Uncertain significance Single submitter
- HDLBP p.Asp845Asn Uncertain significance Single submitter
- HDLBP p.Asp929Asn Uncertain significance Single submitter
- HDLBP p.Gln787Arg Uncertain significance Single submitter
- HDLBP p.Gln795Glu Uncertain significance Single submitter
- HDLBP p.Gln843His Uncertain significance Single submitter
- HDLBP p.Glu1156Gly Uncertain significance Single submitter
- HDLBP p.Glu247Lys Uncertain significance Single submitter
- HDLBP p.Glu425Gly Uncertain significance Single submitter
- HDLBP p.Glu921Gln Uncertain significance Single submitter
- HDLBP p.Glu936Gln Uncertain significance Single submitter
- HDLBP p.Glu965Lys Uncertain significance Single submitter
- HDLBP p.Gly748Val Uncertain significance Single submitter
- HDLBP p.Ile196Met Uncertain significance Single submitter
- HDLBP p.Ile248Val Uncertain significance Single submitter
- HDLBP p.Ile268Val Uncertain significance Single submitter
- HDLBP p.Ile442Val Uncertain significance Single submitter
- HDLBP p.Ile542Met Uncertain significance Single submitter
- HDLBP p.Ile588Asn Uncertain significance Single submitter
- HDLBP p.Ile750Met Uncertain significance Single submitter
- HDLBP p.Ile777Thr Uncertain significance Single submitter
- HDLBP p.Ile952Met Uncertain significance Single submitter
- HDLBP p.Leu1035Met Uncertain significance Single submitter
- HDLBP p.Leu29Pro Uncertain significance Single submitter
- HDLBP p.Lys429Arg Uncertain significance Single submitter
- HDLBP p.Lys466Arg Uncertain significance Single submitter
- HDLBP p.Lys850Glu Uncertain significance Single submitter
- HDLBP p.Lys938Glu Uncertain significance Single submitter
- HDLBP p.Met1244Val Uncertain significance Single submitter
- HDLBP p.Met427Val Uncertain significance Single submitter
- HDLBP p.Met573Val Uncertain significance Single submitter
- HDLBP p.Pro1213Ser Uncertain significance Single submitter
- HDLBP p.Pro192Ser Uncertain significance Single submitter
-
HDLBP p.Pro261Leu
Uncertain significance
Single submitter
HDLBP-related disorder
- HDLBP p.Pro395Ser Uncertain significance Single submitter
- HDLBP p.Pro881Leu Uncertain significance Single submitter
-
HDLBP p.Ser1052Asn
Uncertain significance
Single submitter
HDLBP-related disorder
- HDLBP p.Ser152Leu Uncertain significance Single submitter
- HDLBP p.Ser35Asn Uncertain significance Single submitter
- HDLBP p.Ser478Asn Uncertain significance Single submitter
- HDLBP p.Ser659Phe Uncertain significance Single submitter
- HDLBP p.Thr1261Ala Uncertain significance Single submitter
- HDLBP p.Thr154Ile Uncertain significance Single submitter
- HDLBP p.Thr365Ser Uncertain significance Single submitter
- HDLBP p.Thr414Ala Uncertain significance Single submitter
- HDLBP p.Thr875Ile Uncertain significance Single submitter
-
HDLBP p.Val1084Met
Uncertain significance
Single submitter
HDLBP-related disorder
- HDLBP p.Val1132Ile Uncertain significance Single submitter
- HDLBP p.Val1138Ile Uncertain significance Single submitter
- HDLBP p.Val329Ile Uncertain significance Single submitter
- HDLBP p.Val4Ile Uncertain significance Single submitter
- HDLBP p.Val692Met Uncertain significance Single submitter
- HDLBP p.Val700Ile Uncertain significance Single submitter
- HDLBP p.Val783Ile Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- HDLBP p.Thr630Arg Uncertain significance Multiple submitters
- HDLBP p.Ala734Thr Uncertain significance Single submitter
- HDLBP p.Arg1114Ser Uncertain significance Single submitter
- HDLBP p.Arg1151His Uncertain significance Single submitter
- HDLBP p.Arg1229Leu Uncertain significance Single submitter
- HDLBP p.Arg1268Gln Uncertain significance Single submitter
- HDLBP p.Arg265Gly Uncertain significance Single submitter
- HDLBP p.Arg733Cys Uncertain significance Single submitter
-
HDLBP p.Arg824Gly
Uncertain significance
Single submitter
Marfanoid habitus and intellectual disability
- HDLBP p.Asn652Ser Uncertain significance Single submitter
- HDLBP p.Asp869Glu Uncertain significance Single submitter
- HDLBP p.Asp982Tyr Uncertain significance Single submitter
- HDLBP p.Cys683Tyr Uncertain significance Single submitter
- HDLBP p.Gln100Pro Uncertain significance Single submitter
- HDLBP p.Gln873His Uncertain significance Single submitter
- HDLBP p.Gln873Leu Uncertain significance Single submitter
- HDLBP p.Glu177Gln Uncertain significance Single submitter
- HDLBP p.Glu655Lys Uncertain significance Single submitter
- HDLBP p.Glu657Asp Uncertain significance Single submitter
- HDLBP p.Gly1033Arg Uncertain significance Single submitter
- HDLBP p.Gly1167Arg Uncertain significance Single submitter
- HDLBP p.Gly315Ala Uncertain significance Single submitter
- HDLBP p.Gly65Glu Uncertain significance Single submitter
- HDLBP p.Gly746Glu Uncertain significance Single submitter
- HDLBP p.Ile471Val Uncertain significance Single submitter
- HDLBP p.Leu115Met Uncertain significance Single submitter
- HDLBP p.Leu793Ser Uncertain significance Single submitter
- HDLBP p.Lys349Asn Uncertain significance Single submitter
- HDLBP p.Met108Leu Uncertain significance Single submitter
- HDLBP p.Met889Thr Uncertain significance Single submitter
- HDLBP p.Phe270Leu Uncertain significance Single submitter
- HDLBP p.Phe378Leu Uncertain significance Single submitter
- HDLBP p.Ser336Gly Uncertain significance Single submitter
- HDLBP p.Val428Leu Uncertain significance Single submitter
- HDLBP p.Val730Phe Uncertain significance Single submitter
All HDLBP variants
Benign 15
- p.Arg733His Multiple submitters
- p.Asp463= Multiple submitters
- p.Thr28Ala Multiple submitters
- c.1189-4G>A Single submitter
- c.2391+9C>T Single submitter
- p.Ala654= Single submitter
- p.Glu251Asp Single submitter
- p.Thr729= Single submitter
- p.Val369= Single submitter
- c.1081-10A>G No assertion criteria HDLBP-related disorder
- c.2750-4C>G No assertion criteria HDLBP-related disorder
- c.2904+9C>T No assertion criteria HDLBP-related disorder
- p.Asn418Ser No assertion criteria HDLBP-related disorder
- p.Asp1092= No assertion criteria HDLBP-related disorder
- p.Gly831= No assertion criteria HDLBP-related disorder
Likely benign 26
- p.Gly670= Multiple submitters
- c.76+165A>G Single submitter
- c.-38+762C>T Single submitter
- p.Asp1131= Single submitter
- p.Cys683= Single submitter
- p.Gly246= Single submitter
- p.Ile676= Single submitter
- p.Lys407Arg Single submitter
- p.Lys713Arg Single submitter
- p.Pro192Ala Single submitter
- p.Pro347= Single submitter
- p.Thr1177= Single submitter
- p.Val229Ile Single submitter
- c.2750-8C>T No assertion criteria HDLBP-related disorder
- c.-16A>T No assertion criteria HDLBP-related disorder
- c.-27G>A No assertion criteria HDLBP-related disorder
- p.Ala5= No assertion criteria HDLBP-related disorder
- p.Arg754= No assertion criteria HDLBP-related disorder
- p.Asp190= No assertion criteria HDLBP-related disorder
- p.Gly851= No assertion criteria HDLBP-related disorder
- p.Ile702= No assertion criteria HDLBP-related disorder
- p.Leu1023= No assertion criteria HDLBP-related disorder
- p.Ser262= No assertion criteria HDLBP-related disorder
- p.Thr254= No assertion criteria HDLBP-related disorder
- p.Tyr1197= No assertion criteria HDLBP-related disorder
- p.Tyr986= No assertion criteria HDLBP-related disorder
Uncertain significance 131
- p.Thr630Arg Multiple submitters ⚠
- c.1731+1G>A Single submitter Fine-Lubinsky syndrome
- p.Ala1024Thr Single submitter ⚠
- p.Ala1073Thr Single submitter ⚠
- p.Ala1168Asp Single submitter ⚠
- p.Ala1219Gly Single submitter ⚠
- p.Ala1235Thr Single submitter ⚠
- p.Ala232Val Single submitter ⚠
- p.Ala238Thr Single submitter ⚠
- p.Ala27Asp Single submitter ⚠
- p.Ala57Val Single submitter ⚠
- p.Ala734Thr Single submitter ⚠
- p.Ala765Val Single submitter ⚠
- p.Ala792Ser Single submitter ⚠
- p.Ala792Thr Single submitter ⚠
- p.Arg1079Gln Single submitter ⚠
- p.Arg1079Trp Single submitter ⚠
- p.Arg1114Ser Single submitter ⚠
- p.Arg1146Cys Single submitter ⚠
- p.Arg1151His Single submitter ⚠
- p.Arg1151Ser Single submitter ⚠
- p.Arg1229Leu Single submitter ⚠
- p.Arg1268Gln Single submitter ⚠
- p.Arg188Cys Single submitter ⚠
- p.Arg265Gly Single submitter ⚠
- p.Arg377His Single submitter ⚠
- p.Arg633Gln Single submitter ⚠
- p.Arg677Cys Single submitter ⚠
- p.Arg733Cys Single submitter ⚠
- p.Arg818Cys Single submitter ⚠
- p.Arg824Gln Single submitter
- p.Arg824Gly Single submitter Marfanoid habitus and intellectual disability ⚠
- p.Arg862His Single submitter ⚠
- p.Arg956Gln Single submitter ⚠
- p.Arg956Trp Single submitter ⚠
- p.Asn30Lys Single submitter ⚠
- p.Asn652Ser Single submitter ⚠
- p.Asn927His Single submitter ⚠
- p.Asp1093Asn Single submitter ⚠
- p.Asp1131Glu Single submitter ⚠
- p.Asp36Asn Single submitter ⚠
- p.Asp698Asn Single submitter ⚠
- p.Asp845Asn Single submitter ⚠
- p.Asp854Gly Single submitter
- p.Asp869Glu Single submitter ⚠
- p.Asp929Asn Single submitter ⚠
- p.Asp982Tyr Single submitter ⚠
- p.Cys683Tyr Single submitter ⚠
- p.Gln100Pro Single submitter ⚠
- p.Gln392Ter Single submitter
- p.Gln787Arg Single submitter ⚠
- p.Gln795Glu Single submitter ⚠
- p.Gln843His Single submitter ⚠
- p.Gln873His Single submitter ⚠
- p.Gln873Leu Single submitter ⚠
- p.Glu1156Gly Single submitter ⚠
- p.Glu177Gln Single submitter ⚠
- p.Glu247Lys Single submitter ⚠
- p.Glu339Ter Single submitter
- p.Glu405Lys Single submitter
- p.Glu425Gly Single submitter ⚠
- p.Glu655Lys Single submitter ⚠
- p.Glu657Asp Single submitter ⚠
- p.Glu921Gln Single submitter ⚠
- p.Glu936Gln Single submitter ⚠
- p.Glu965Lys Single submitter ⚠
- p.Gly1033Arg Single submitter ⚠
- p.Gly1167Arg Single submitter ⚠
- p.Gly315Ala Single submitter ⚠
- p.Gly65Glu Single submitter ⚠
- p.Gly746Glu Single submitter ⚠
- p.Gly748fs Single submitter
- p.Gly748Val Single submitter ⚠
- p.Ile196Met Single submitter ⚠
- p.Ile248Val Single submitter ⚠
- p.Ile268Val Single submitter ⚠
- p.Ile442Val Single submitter ⚠
- p.Ile471Val Single submitter ⚠
- p.Ile542Met Single submitter ⚠
- p.Ile588Asn Single submitter ⚠
- p.Ile750Met Single submitter ⚠
- p.Ile777Thr Single submitter ⚠
- p.Ile952Met Single submitter ⚠
- p.Leu1035Met Single submitter ⚠
- p.Leu115Met Single submitter ⚠
- p.Leu29Pro Single submitter ⚠
- p.Leu793Ser Single submitter ⚠
- p.Lys349Asn Single submitter ⚠
- p.Lys429Arg Single submitter ⚠
- p.Lys466Arg Single submitter ⚠
- p.Lys850Glu Single submitter ⚠
- p.Lys938Glu Single submitter ⚠
- p.Met108Leu Single submitter ⚠
- p.Met1244Val Single submitter ⚠
- p.Met427Val Single submitter ⚠
- p.Met573Val Single submitter ⚠
- p.Met889Thr Single submitter ⚠
- p.Phe270Leu Single submitter ⚠
- p.Phe378Leu Single submitter ⚠
- p.Pro1213Ser Single submitter ⚠
- p.Pro192Ser Single submitter ⚠
- p.Pro261Leu Single submitter HDLBP-related disorder ⚠
- p.Pro395Ser Single submitter ⚠
- p.Pro881Leu Single submitter ⚠
- p.Ser1052Asn Single submitter HDLBP-related disorder ⚠
- p.Ser152Leu Single submitter ⚠
- p.Ser31Ter Single submitter
- p.Ser336Gly Single submitter ⚠
- p.Ser35Asn Single submitter ⚠
- p.Ser367fs Single submitter
- p.Ser478Asn Single submitter ⚠
- p.Ser585Phe Single submitter
- p.Ser659Phe Single submitter ⚠
- p.Ser844Asn Single submitter
- p.Thr1261Ala Single submitter ⚠
- p.Thr154Ile Single submitter ⚠
- p.Thr365Ser Single submitter ⚠
- p.Thr414Ala Single submitter ⚠
- p.Thr875Ile Single submitter ⚠
- p.Tyr1197Ter Single submitter
- p.Val1084Met Single submitter HDLBP-related disorder ⚠
- p.Val1132Ile Single submitter ⚠
- p.Val1138Ile Single submitter ⚠
- p.Val329Ile Single submitter ⚠
- p.Val366fs Single submitter
- p.Val428Leu Single submitter ⚠
- p.Val4Ile Single submitter ⚠
- p.Val692Met Single submitter ⚠
- p.Val700Ile Single submitter ⚠
- p.Val730Phe Single submitter ⚠
- p.Val783Ile Single submitter ⚠