LPAR6 — 95 ClinVar variants
All ClinVar germline LPAR6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
3 Pathogenic · 2 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 3 Conflicting · 8 Benign · 1 Benign/Likely benign · 21 Likely benign · 46 Uncertain significance
Full LPAR6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LPAR6 p.Asn246Asp
Conflicting
Single submitter
hypotrichosis 8
-
LPAR6 p.Pro196Leu
Conflicting
Single submitter
hypotrichosis 8
Predictors lean, ClinVar uncertain 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
LPAR6 p.Ala151Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LPAR6 p.Ala164Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- LPAR6 p.Ala167Val Uncertain significance Single submitter
-
LPAR6 p.Ala175Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Ala322Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Arg270Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Arg311Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- LPAR6 p.Arg80Trp Uncertain significance Single submitter
-
LPAR6 p.Asn35Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Asp113Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Cys36Tyr
Uncertain significance
Single submitter
hypotrichosis 8
-
LPAR6 p.His158Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Ile118Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Ile190Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Ile236Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Ile237Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Ile43Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Lys134Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Lys134Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Met26Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Met272Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Phe28Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Phe314Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Phe84Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- LPAR6 p.Pro196Arg Uncertain significance Single submitter
-
LPAR6 p.Pro71Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Ser148Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Ser295Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Ser317Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Ser335Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Ser3Thr
Uncertain significance
Single submitter
hypotrichosis 8
-
LPAR6 p.Thr276Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Thr52Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Thr78Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Tyr11His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Tyr17His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Tyr291His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Val191Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Val233Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- LPAR6 p.Val45Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
-
LPAR6 p.Ile118Met
Benign
Single submitter
retinoblastoma
-
LPAR6 p.Ile39Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LPAR6 p.Leu181Arg
Uncertain significance
Single submitter
hypotrichosis 8
-
LPAR6 p.Ser111Thr
Conflicting
Single submitter
Inborn genetic diseases
-
LPAR6 p.Tyr11Cys
Uncertain significance
Single submitter
Inborn genetic diseases
All LPAR6 variants
Pathogenic 3
- p.Arg49Ter Single submitter hypotrichosis 8
- p.Met1Val Single submitter hypotrichosis 8
- p.Pro71fs Single submitter hypotrichosis 8
Pathogenic/Likely pathogenic 2
- p.Glu189Lys Multiple submitters hypotrichosis 8
- p.Ile188Phe Multiple submitters hypotrichosis 8
Likely pathogenic 11
- p.Gly146Arg Multiple submitters hypotrichosis 8
- p.Asn248Tyr Single submitter hypotrichosis 8
- p.Asp63Val Single submitter hypotrichosis 8
- p.Asp86fs Single submitter hypotrichosis 8
- p.Cys263fs Single submitter hypotrichosis 8
- p.Cys278Tyr Single submitter hypotrichosis 8
- p.Gln155Ter Single submitter hypotrichosis 8
- p.Leu277Pro Single submitter hypotrichosis 8
- p.Lys125fs Single submitter hypotrichosis 8
- p.Phe28fs Single submitter wooly hair, autosomal recessive 1, with or without hypotrichosis
- p.Val309fs Single submitter hypotrichosis 8
Conflicting classifications of pathogenicity 3
- p.Asn246Asp Single submitter hypotrichosis 8 ⚠
- p.Pro196Leu Single submitter hypotrichosis 8 ⚠
- p.Ser111Thr Single submitter Inborn genetic diseases ⚠
Benign 8
- c.-473T>C Multiple submitters
- p.Ala117_Ile118delinsVal Single submitter retinoblastoma
- p.Arg114fs Single submitter retinoblastoma
- p.Ile118Met Single submitter retinoblastoma ⚠
- p.Leu116fs Single submitter retinoblastoma
- p.Pro121fs Single submitter retinoblastoma
- p.Tyr120Asp Single submitter retinoblastoma
- p.Tyr120fs Single submitter retinoblastoma
Benign/Likely benign 1
- p.Ile195= Multiple submitters
Likely benign 21
- p.Ala267= Multiple submitters
- p.Asn58= Multiple submitters
- p.Cys44= Multiple submitters
- p.Ser14= Multiple submitters
- p.Ala322= Single submitter
- p.Arg80= Single submitter
- p.Arg80Gln Single submitter
- p.Asn35= Single submitter
- p.Asn81= Single submitter
- p.Ile118= Single submitter
- p.Leu95= Single submitter
- p.Lys209Arg Single submitter Inborn genetic diseases
- p.Lys336= Single submitter
- p.Ser124_Lys125del Single submitter
- p.Ser253Cys Single submitter
- p.Ser295= Single submitter
- p.Thr157= Single submitter
- p.Tyr180= Single submitter
- p.Val152= Single submitter
- p.Val265Ala Single submitter Inborn genetic diseases
- p.Tyr252= No assertion criteria LPAR6-related disorder
Uncertain significance 46
- p.Ala151Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala164Asp Single submitter Inborn genetic diseases ⚠
- p.Ala167Val Single submitter ⚠
- p.Ala175Gly Single submitter Inborn genetic diseases ⚠
- p.Ala322Ser Single submitter Inborn genetic diseases ⚠
- p.Arg270Lys Single submitter Inborn genetic diseases ⚠
- p.Arg311Ser Single submitter Inborn genetic diseases ⚠
- p.Arg80Trp Single submitter ⚠
- p.Asn35Ser Single submitter Inborn genetic diseases ⚠
- p.Asp113Glu Single submitter Inborn genetic diseases ⚠
- p.Cys36Tyr Single submitter hypotrichosis 8 ⚠
- p.His158Gln Single submitter Inborn genetic diseases ⚠
- p.Ile118Ser Single submitter Inborn genetic diseases ⚠
- p.Ile190Thr Single submitter Inborn genetic diseases ⚠
- p.Ile236Thr Single submitter Inborn genetic diseases ⚠
- p.Ile237Val Single submitter Inborn genetic diseases ⚠
- p.Ile39Thr Single submitter Inborn genetic diseases ⚠
- p.Ile43Thr Single submitter Inborn genetic diseases ⚠
- p.Leu181Arg Single submitter hypotrichosis 8 ⚠
- p.Lys134Arg Single submitter Inborn genetic diseases ⚠
- p.Lys134Asn Single submitter Inborn genetic diseases ⚠
- p.Met26Leu Single submitter Inborn genetic diseases ⚠
- p.Met272Thr Single submitter Inborn genetic diseases ⚠
- p.Phe28Ser Single submitter Inborn genetic diseases ⚠
- p.Phe314Leu Single submitter Inborn genetic diseases ⚠
- p.Phe84Ser Single submitter Inborn genetic diseases ⚠
- p.Pro150Leu Single submitter Inborn genetic diseases
- p.Pro196Arg Single submitter ⚠
- p.Pro71Ser Single submitter Inborn genetic diseases ⚠
- p.Ser148Thr Single submitter Inborn genetic diseases ⚠
- p.Ser295Trp Single submitter Inborn genetic diseases ⚠
- p.Ser317Thr Single submitter Inborn genetic diseases ⚠
- p.Ser335Thr Single submitter Inborn genetic diseases ⚠
- p.Ser3Thr Single submitter hypotrichosis 8 ⚠
- p.Thr276Ile Single submitter Inborn genetic diseases ⚠
- p.Thr52Ser Single submitter Inborn genetic diseases ⚠
- p.Thr78Lys Single submitter Inborn genetic diseases ⚠
- p.Tyr11Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr11His Single submitter Inborn genetic diseases ⚠
- p.Tyr17His Single submitter Inborn genetic diseases ⚠
- p.Tyr291His Single submitter Inborn genetic diseases ⚠
- p.Val119Ala Single submitter Inborn genetic diseases
- p.Val191Leu Single submitter Inborn genetic diseases ⚠
- p.Val233Ile Single submitter Inborn genetic diseases ⚠
- p.Val243Ala Single submitter Inborn genetic diseases
- p.Val45Ile Single submitter ⚠