PLTP — 214 ClinVar variants
All ClinVar germline PLTP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
12 Benign · 69 Likely benign · 133 Uncertain significance
Full PLTP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 95
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PLTP p.Ala155Thr Uncertain significance Multiple submitters
- PLTP p.Ala155Val Uncertain significance Multiple submitters
- PLTP p.Arg251Gln Uncertain significance Multiple submitters
- PLTP p.Arg372His Uncertain significance Multiple submitters
- PLTP p.Arg380Gln Uncertain significance Multiple submitters
- PLTP p.Arg391Cys Uncertain significance Multiple submitters
- PLTP p.Arg432His Uncertain significance Multiple submitters
- PLTP p.Asn94Asp Uncertain significance Multiple submitters
- PLTP p.Glu211Gln Uncertain significance Multiple submitters
- PLTP p.Glu278Gln Uncertain significance Multiple submitters
- PLTP p.Gly59Ser Uncertain significance Multiple submitters
- PLTP p.Ile49Val Uncertain significance Multiple submitters
- PLTP p.Leu179Phe Uncertain significance Multiple submitters
- PLTP p.Phe19Leu Uncertain significance Multiple submitters
- PLTP p.Pro339Leu Uncertain significance Multiple submitters
- PLTP p.Ser345Phe Uncertain significance Multiple submitters
- PLTP p.Thr450Met Uncertain significance Multiple submitters
- PLTP p.Val26Leu Uncertain significance Multiple submitters
- PLTP p.Ala13Val Uncertain significance Single submitter
- PLTP p.Ala191Thr Uncertain significance Single submitter
- PLTP p.Ala237Val Uncertain significance Single submitter
- PLTP p.Ala283Thr Uncertain significance Single submitter
- PLTP p.Ala283Val Uncertain significance Single submitter
- PLTP p.Ala371Thr Uncertain significance Single submitter
- PLTP p.Ala465Val Uncertain significance Single submitter
- PLTP p.Ala478Gly Uncertain significance Single submitter
- PLTP p.Arg100His Uncertain significance Single submitter
- PLTP p.Arg102Gln Uncertain significance Single submitter
- PLTP p.Arg102Trp Uncertain significance Single submitter
- PLTP p.Arg126His Uncertain significance Single submitter
- PLTP p.Arg133Pro Uncertain significance Single submitter
- PLTP p.Arg138Leu Uncertain significance Single submitter
- PLTP p.Arg177His Uncertain significance Single submitter
- PLTP p.Arg206Cys Uncertain significance Single submitter
- PLTP p.Arg206His Uncertain significance Single submitter
- PLTP p.Arg304Lys Uncertain significance Single submitter
- PLTP p.Arg328Gln Uncertain significance Single submitter
- PLTP p.Arg328Trp Uncertain significance Single submitter
- PLTP p.Arg372Cys Uncertain significance Single submitter
- PLTP p.Arg391His Uncertain significance Single submitter
- PLTP p.Arg392Ser Uncertain significance Single submitter
- PLTP p.Asn143Ser Uncertain significance Single submitter
- PLTP p.Asp201Glu Uncertain significance Single submitter
- PLTP p.Asp293Glu Uncertain significance Single submitter
- PLTP p.Asp389Glu Uncertain significance Single submitter
- PLTP p.Asp81Val Uncertain significance Single submitter
- PLTP p.Gln147Glu Uncertain significance Single submitter
- PLTP p.Glu18Val Uncertain significance Single submitter
- PLTP p.Glu259Gly Uncertain significance Single submitter
- PLTP p.Glu428Ala Uncertain significance Single submitter
- PLTP p.Glu447Asp Uncertain significance Single submitter
- PLTP p.Glu79Lys Uncertain significance Single submitter
- PLTP p.Gly122Asp Uncertain significance Single submitter
- PLTP p.Gly122Val Uncertain significance Single submitter
- PLTP p.Gly14Cys Uncertain significance Single submitter
- PLTP p.Gly158Arg Uncertain significance Single submitter
- PLTP p.Gly159Val Uncertain significance Single submitter
- PLTP p.Gly192Val Uncertain significance Single submitter
- PLTP p.Gly284Arg Uncertain significance Single submitter
- PLTP p.Gly441Ala Uncertain significance Single submitter
- PLTP p.Gly459Arg Uncertain significance Single submitter
- PLTP p.Gly59Asp Uncertain significance Single submitter
- PLTP p.His452Tyr Uncertain significance Single submitter
- PLTP p.His60Asp Uncertain significance Single submitter
- PLTP p.Ile420Thr Uncertain significance Single submitter
- PLTP p.Ile436Asn Uncertain significance Single submitter
- PLTP p.Ile472Thr Uncertain significance Single submitter
- PLTP p.Ile65Val Uncertain significance Single submitter
- PLTP p.Leu200Pro Uncertain significance Single submitter
- PLTP p.Leu314Pro Uncertain significance Single submitter
- PLTP p.Leu323Ser Uncertain significance Single submitter
- PLTP p.Leu405Gln Uncertain significance Single submitter
- PLTP p.Lys338Glu Uncertain significance Single submitter
- PLTP p.Pro135Thr Uncertain significance Single submitter
- PLTP p.Pro249Ser Uncertain significance Single submitter
- PLTP p.Pro255Leu Uncertain significance Single submitter
- PLTP p.Pro316Ala Uncertain significance Single submitter
- PLTP p.Pro488Arg Uncertain significance Single submitter
- PLTP p.Pro488Leu Uncertain significance Single submitter
- PLTP p.Ser119Ala Uncertain significance Single submitter
- PLTP p.Ser208Thr Uncertain significance Single submitter
- PLTP p.Thr170Ala Uncertain significance Single submitter
- PLTP p.Thr193Met Uncertain significance Single submitter
- PLTP p.Thr202Pro Uncertain significance Single submitter
- PLTP p.Thr227Pro Uncertain significance Single submitter
- PLTP p.Thr227Ser Uncertain significance Single submitter
- PLTP p.Thr242Asn Uncertain significance Single submitter
- PLTP p.Thr351Ser Uncertain significance Single submitter
- PLTP p.Thr50Asn Uncertain significance Single submitter
- PLTP p.Val164Leu Uncertain significance Single submitter
- PLTP p.Val266Glu Uncertain significance Single submitter
- PLTP p.Val291Met Uncertain significance Single submitter
- PLTP p.Val350Ile Uncertain significance Single submitter
- PLTP p.Val445Gly Uncertain significance Single submitter
- PLTP p.Val448Ala Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- PLTP p.Arg177Cys Uncertain significance Multiple submitters
- PLTP p.Arg394Pro Uncertain significance Multiple submitters
- PLTP p.Arg133Trp Uncertain significance Single submitter
- PLTP p.Arg138Trp Uncertain significance Single submitter
- PLTP p.Arg262Trp Uncertain significance Single submitter
- PLTP p.Arg334Cys Uncertain significance Single submitter
- PLTP p.Arg432Cys Uncertain significance Single submitter
- PLTP p.Asn250Lys Uncertain significance Single submitter
- PLTP p.Gly14Asp Uncertain significance Single submitter
- PLTP p.Gly309Trp Uncertain significance Single submitter
- PLTP p.Ile344Ser Uncertain significance Single submitter
- PLTP p.Lys415Met Uncertain significance Single submitter
- PLTP p.Met277Arg Uncertain significance Single submitter
- PLTP p.Phe444Leu Uncertain significance Single submitter
- PLTP p.Pro204Arg Uncertain significance Single submitter
- PLTP p.Pro409Thr Uncertain significance Single submitter
- PLTP p.Ser132Cys Uncertain significance Single submitter
- PLTP p.Ser132Phe Uncertain significance Single submitter
- PLTP p.Ser198Phe Uncertain significance Single submitter
- PLTP p.Ser366Gly Uncertain significance Single submitter
All PLTP variants
Benign 12
- c.1175+6C>G Multiple submitters
- p.Arg380Trp Multiple submitters
- p.Ser124Tyr Multiple submitters
- p.Ser349= Multiple submitters
- p.Val123= Multiple submitters
- p.Val187= Multiple submitters
- c.1219-18C>T Single submitter
- c.549+20G>A Single submitter
- c.613+17T>C Single submitter
- p.His297= Single submitter
- p.Leu303= Single submitter
- p.Val448= Single submitter
Likely benign 69
- p.Arg282Gln Multiple submitters
- p.Glu130= Multiple submitters
- p.Leu179= Multiple submitters
- c.100+13G>A Single submitter
- c.1107+16T>A Single submitter
- c.1107+16T>G Single submitter
- c.1107+17G>A Single submitter
- c.1107+9C>G Single submitter
- c.1175+10C>G Single submitter
- c.1175+10C>T Single submitter
- c.1176-4G>A Single submitter
- c.1176-5C>T Single submitter
- c.1218+20T>G Single submitter
- c.1219-11G>A Single submitter
- c.1219-12C>G Single submitter
- c.1219-4C>G Single submitter
- c.1219-8C>T Single submitter
- c.1282+14G>A Single submitter
- c.1283-19G>A Single submitter
- c.1283-7C>A Single submitter
- c.1360-11C>T Single submitter
- c.1360-18C>G Single submitter
- c.201-12G>C Single submitter
- c.329+20A>C Single submitter
- c.330-20A>C Single submitter
- c.330-6del Single submitter
- c.549+12G>A Single submitter
- c.550-17del Single submitter
- c.613+14G>A Single submitter
- c.705+8G>C Single submitter
- c.706-9C>T Single submitter
- c.882+13C>T Single submitter
- c.942+12C>T Single submitter
- p.Ala10= Single submitter
- p.Ala155= Single submitter
- p.Ala283= Single submitter
- p.Ala353= Single submitter
- p.Ala460= Single submitter
- p.Ala482= Single submitter
- p.Arg100= Single submitter
- p.Arg133Gln Single submitter
- p.Arg244= Single submitter
- p.Arg391= Single submitter
- p.Asp210= Single submitter
- p.Asp293= Single submitter
- p.Glu270= Single submitter
- p.Gly421= Single submitter
- p.Gly467= Single submitter
- p.His154= Single submitter
- p.His16Arg Single submitter
- p.Ile65= Single submitter
- p.Leu131= Single submitter
- p.Leu168= Single submitter
- p.Leu323= Single submitter
- p.Leu379= Single submitter
- p.Leu75= Single submitter
- p.Lys294Arg Single submitter
- p.Phe161= Single submitter
- p.Pro135= Single submitter
- p.Pro333= Single submitter
- p.Pro486= Single submitter
- p.Ser66= Single submitter
- p.Ser78= Single submitter
- p.Ser96= Single submitter
- p.Thr193= Single submitter
- p.Thr386= Single submitter
- p.Thr450= Single submitter
- p.Gln44= No assertion criteria PLTP-related disorder
- p.Val329= No assertion criteria PLTP-related disorder
Uncertain significance 133
- p.Ala155Thr Multiple submitters ⚠
- p.Ala155Val Multiple submitters ⚠
- p.Arg177Cys Multiple submitters ⚠
- p.Arg251Gln Multiple submitters ⚠
- p.Arg372His Multiple submitters ⚠
- p.Arg380Gln Multiple submitters ⚠
- p.Arg391Cys Multiple submitters ⚠
- p.Arg394Pro Multiple submitters ⚠
- p.Arg432His Multiple submitters ⚠
- p.Asn94Asp Multiple submitters ⚠
- p.Glu211Gln Multiple submitters ⚠
- p.Glu278Gln Multiple submitters ⚠
- p.Gly59Ser Multiple submitters ⚠
- p.Ile49Val Multiple submitters ⚠
- p.Leu179Phe Multiple submitters ⚠
- p.Phe19Leu Multiple submitters ⚠
- p.Pro339Leu Multiple submitters ⚠
- p.Ser345Phe Multiple submitters ⚠
- p.Thr450Met Multiple submitters ⚠
- p.Trp108Ser Multiple submitters
- p.Val26Leu Multiple submitters ⚠
- c.100+4A>C Single submitter
- c.1107+5G>A Single submitter
- c.1218+5G>T Single submitter
- c.1360-3C>T Single submitter
- c.200+3A>C Single submitter
- c.201-5T>G Single submitter
- c.329+1G>T Single submitter
- p.Ala13Val Single submitter ⚠
- p.Ala191Thr Single submitter ⚠
- p.Ala237Val Single submitter ⚠
- p.Ala283Thr Single submitter ⚠
- p.Ala283Val Single submitter ⚠
- p.Ala371Thr Single submitter ⚠
- p.Ala465Val Single submitter ⚠
- p.Ala478Gly Single submitter ⚠
- p.Arg100His Single submitter ⚠
- p.Arg102Gln Single submitter ⚠
- p.Arg102Trp Single submitter ⚠
- p.Arg126His Single submitter ⚠
- p.Arg133Pro Single submitter ⚠
- p.Arg133Trp Single submitter ⚠
- p.Arg138Leu Single submitter ⚠
- p.Arg138Trp Single submitter ⚠
- p.Arg177His Single submitter ⚠
- p.Arg206Cys Single submitter ⚠
- p.Arg206His Single submitter ⚠
- p.Arg262Trp Single submitter ⚠
- p.Arg304Lys Single submitter ⚠
- p.Arg328Gln Single submitter ⚠
- p.Arg328Trp Single submitter ⚠
- p.Arg334Cys Single submitter ⚠
- p.Arg372Cys Single submitter ⚠
- p.Arg391His Single submitter ⚠
- p.Arg392Ser Single submitter ⚠
- p.Arg394Ter Single submitter
- p.Arg432Cys Single submitter ⚠
- p.Asn143Ser Single submitter ⚠
- p.Asn250Lys Single submitter ⚠
- p.Asp201Glu Single submitter ⚠
- p.Asp293Glu Single submitter ⚠
- p.Asp389Glu Single submitter ⚠
- p.Asp81Val Single submitter ⚠
- p.Gln147Glu Single submitter ⚠
- p.Gln359fs Single submitter
- p.Gln91Ter Single submitter
- p.Glu18Val Single submitter ⚠
- p.Glu259Gly Single submitter ⚠
- p.Glu270Ter Single submitter
- p.Glu428Ala Single submitter ⚠
- p.Glu447Asp Single submitter ⚠
- p.Glu79Lys Single submitter ⚠
- p.Gly122Asp Single submitter ⚠
- p.Gly122Val Single submitter ⚠
- p.Gly14Asp Single submitter ⚠
- p.Gly14Cys Single submitter ⚠
- p.Gly158Arg Single submitter ⚠
- p.Gly159Val Single submitter ⚠
- p.Gly192Val Single submitter ⚠
- p.Gly284Arg Single submitter ⚠
- p.Gly309Trp Single submitter ⚠
- p.Gly441Ala Single submitter ⚠
- p.Gly459Arg Single submitter ⚠
- p.Gly59Asp Single submitter ⚠
- p.His452Tyr Single submitter ⚠
- p.His60Asp Single submitter ⚠
- p.Ile344Ser Single submitter ⚠
- p.Ile420Thr Single submitter ⚠
- p.Ile436Asn Single submitter ⚠
- p.Ile472Thr Single submitter ⚠
- p.Ile65Val Single submitter ⚠
- p.Leu200Pro Single submitter ⚠
- p.Leu314Pro Single submitter ⚠
- p.Leu323Ser Single submitter ⚠
- p.Leu405Gln Single submitter ⚠
- p.Lys338Glu Single submitter ⚠
- p.Lys382Glu Single submitter
- p.Lys415Met Single submitter ⚠
- p.Lys474del Single submitter
- p.Met277Arg Single submitter ⚠
- p.Phe444Leu Single submitter ⚠
- p.Phe8_Leu9insTer Single submitter
- p.Pro135Thr Single submitter ⚠
- p.Pro186Arg Single submitter
- p.Pro204Arg Single submitter ⚠
- p.Pro249Ser Single submitter ⚠
- p.Pro255Leu Single submitter ⚠
- p.Pro316Ala Single submitter ⚠
- p.Pro409Thr Single submitter ⚠
- p.Pro488Arg Single submitter ⚠
- p.Pro488Leu Single submitter ⚠
- p.Ser119Ala Single submitter ⚠
- p.Ser132Cys Single submitter ⚠
- p.Ser132Phe Single submitter ⚠
- p.Ser198Phe Single submitter ⚠
- p.Ser208Thr Single submitter ⚠
- p.Ser366Gly Single submitter ⚠
- p.Ser96Phe Single submitter
- p.Thr170Ala Single submitter ⚠
- p.Thr193Met Single submitter ⚠
- p.Thr202Pro Single submitter ⚠
- p.Thr227Pro Single submitter ⚠
- p.Thr227Ser Single submitter ⚠
- p.Thr242Asn Single submitter ⚠
- p.Thr351Ser Single submitter ⚠
- p.Thr50Asn Single submitter ⚠
- p.Val164Leu Single submitter ⚠
- p.Val266Glu Single submitter ⚠
- p.Val291Met Single submitter ⚠
- p.Val350Ile Single submitter ⚠
- p.Val422Met Single submitter
- p.Val445Gly Single submitter ⚠
- p.Val448Ala Single submitter ⚠