LRP12 — 125 ClinVar variants
All ClinVar germline LRP12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →
1 Pathogenic · 1 Conflicting · 2 Benign · 14 Likely benign · 107 Uncertain significance
Full LRP12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 103
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LRP12 p.Leu795Pro
Conflicting
Single submitter
oculopharyngodistal myopathy 1
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.
-
LRP12 p.Ala204Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ala2Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ala554Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ala667Val
Uncertain significance
Single submitter
oculopharyngodistal myopathy 1
-
LRP12 p.Ala684Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ala82Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg102Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- LRP12 p.Arg14Ser Uncertain significance Single submitter
-
LRP12 p.Arg172His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg225Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg295Cys
Uncertain significance
Single submitter
oculopharyngodistal myopathy 1
-
LRP12 p.Arg295His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg300His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg330His
Uncertain significance
Single submitter
long QT syndrome 2
-
LRP12 p.Arg394His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg701Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg723His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg738His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg741Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg807Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg822Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Asn274His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Asn434Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Asp255Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Asp406Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Asp481Gly
Uncertain significance
Single submitter
hereditary breast ovarian cancer syndrome
-
LRP12 p.Asp761Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Asp771Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Gln261Glu
Uncertain significance
Single submitter
long QT syndrome 2
-
LRP12 p.Gln392Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Glu235Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Glu323Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Glu544Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Glu768Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Gly29Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Gly373Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Gly703Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Gly745Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Gly99Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.His326Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.His338Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ile116Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ile126Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ile54Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ile602Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ile602Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ile60Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Leu20Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Leu31Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Leu341Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Leu806Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Lys8Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Lys8Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Met188Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Phe609Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Pro280Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Pro402Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Pro676Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Pro717Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ser148Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ser236Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ser337Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ser346Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ser430Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ser784Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Thr112Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Thr125Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Thr208Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Thr258Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- LRP12 p.Thr342Arg Uncertain significance Single submitter
-
LRP12 p.Thr683Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Thr743Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Tyr217Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Tyr279Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Val38Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Val43Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Val487Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Val498Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Val574Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Val628Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Val689Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Val788Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg723Cys
Uncertain significance
No assertion criteria
LRP12-related disorder
Predictors split 19
The independent predictors disagree with each other — read with care.
-
LRP12 p.Arg732Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LRP12 p.Arg140Gly Uncertain significance Single submitter
-
LRP12 p.Arg172Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg225His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg295Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg300Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg527Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg592Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Arg709Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Gly176Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Gly477Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Gly48Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ile777Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Leu376Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Pro490Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Ser443Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Thr495Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Val469Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRP12 p.Val469Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All LRP12 variants
Pathogenic 1
- c.-102CGG[(90_? No assertion criteria oculopharyngodistal myopathy 1
Conflicting classifications of pathogenicity 1
- p.Leu795Pro Single submitter oculopharyngodistal myopathy 1 ⚠
Benign 2
- c.-51T>C Multiple submitters
- p.Cys355Gly Single submitter
Likely benign 14
- p.Asn360= Multiple submitters
- p.Asp839Asn Multiple submitters
- c.1580+8T>A Single submitter
- p.Ala673= Single submitter
- p.Arg828Cys Single submitter
- p.Asp145= Single submitter
- p.Cys173= Single submitter
- p.Gln221= Single submitter
- p.Gly763= Single submitter
- p.Ile147Val Single submitter Inborn genetic diseases
- p.Lys327= Single submitter
- p.Pro717= Single submitter
- p.Val493= Single submitter
- p.Val629= Single submitter
Uncertain significance 107
- p.Arg732Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ala204Gly Single submitter Inborn genetic diseases ⚠
- p.Ala2Val Single submitter Inborn genetic diseases ⚠
- p.Ala554Ser Single submitter Inborn genetic diseases ⚠
- p.Ala667Val Single submitter oculopharyngodistal myopathy 1 ⚠
- p.Ala684Val Single submitter Inborn genetic diseases ⚠
- p.Ala82Thr Single submitter Inborn genetic diseases ⚠
- p.Arg102Ser Single submitter Inborn genetic diseases ⚠
- p.Arg140Gly Single submitter ⚠
- p.Arg14Ser Single submitter ⚠
- p.Arg172Cys Single submitter Inborn genetic diseases ⚠
- p.Arg172His Single submitter Inborn genetic diseases ⚠
- p.Arg225Cys Single submitter Inborn genetic diseases ⚠
- p.Arg225His Single submitter Inborn genetic diseases ⚠
- p.Arg295Cys Single submitter oculopharyngodistal myopathy 1 ⚠
- p.Arg295Gly Single submitter Inborn genetic diseases ⚠
- p.Arg295His Single submitter Inborn genetic diseases ⚠
- p.Arg300His Single submitter Inborn genetic diseases ⚠
- p.Arg300Ser Single submitter Inborn genetic diseases ⚠
- p.Arg330Cys Single submitter Inborn genetic diseases
- p.Arg330His Single submitter long QT syndrome 2 ⚠
- p.Arg394His Single submitter Inborn genetic diseases ⚠
- p.Arg527Ser Single submitter Inborn genetic diseases ⚠
- p.Arg592Gly Single submitter Inborn genetic diseases ⚠
- p.Arg701Gln Single submitter Inborn genetic diseases ⚠
- p.Arg709Trp Single submitter Inborn genetic diseases ⚠
- p.Arg723His Single submitter Inborn genetic diseases ⚠
- p.Arg738His Single submitter Inborn genetic diseases ⚠
- p.Arg741Cys Single submitter Inborn genetic diseases ⚠
- p.Arg807Lys Single submitter Inborn genetic diseases ⚠
- p.Arg822Gln Single submitter Inborn genetic diseases ⚠
- p.Asn274His Single submitter Inborn genetic diseases ⚠
- p.Asn403His Single submitter Inborn genetic diseases
- p.Asn434Ser Single submitter Inborn genetic diseases ⚠
- p.Asp255Gly Single submitter Inborn genetic diseases ⚠
- p.Asp406Asn Single submitter Inborn genetic diseases ⚠
- p.Asp481Gly Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Asp761Gly Single submitter Inborn genetic diseases ⚠
- p.Asp771Glu Single submitter Inborn genetic diseases ⚠
- p.Gln261Glu Single submitter long QT syndrome 2 ⚠
- p.Gln392Glu Single submitter Inborn genetic diseases ⚠
- p.Glu235Lys Single submitter Inborn genetic diseases ⚠
- p.Glu323Asp Single submitter Inborn genetic diseases ⚠
- p.Glu544Gly Single submitter Inborn genetic diseases ⚠
- p.Glu768Asp Single submitter Inborn genetic diseases ⚠
- p.Glu849fs Single submitter
- p.Gly176Ala Single submitter Inborn genetic diseases ⚠
- p.Gly29Ser Single submitter Inborn genetic diseases ⚠
- p.Gly373Glu Single submitter Inborn genetic diseases ⚠
- p.Gly387Arg Single submitter Inborn genetic diseases
- p.Gly477Ser Single submitter Inborn genetic diseases ⚠
- p.Gly48Arg Single submitter Inborn genetic diseases ⚠
- p.Gly703Arg Single submitter Inborn genetic diseases ⚠
- p.Gly745Glu Single submitter Inborn genetic diseases ⚠
- p.Gly99Glu Single submitter Inborn genetic diseases ⚠
- p.His326Gln Single submitter Inborn genetic diseases ⚠
- p.His338Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile116Asn Single submitter Inborn genetic diseases ⚠
- p.Ile126Val Single submitter Inborn genetic diseases ⚠
- p.Ile54Leu Single submitter Inborn genetic diseases ⚠
- p.Ile602Met Single submitter Inborn genetic diseases ⚠
- p.Ile602Phe Single submitter Inborn genetic diseases ⚠
- p.Ile60Leu Single submitter Inborn genetic diseases ⚠
- p.Ile777Thr Single submitter Inborn genetic diseases ⚠
- p.Leu20Phe Single submitter Inborn genetic diseases ⚠
- p.Leu31Phe Single submitter Inborn genetic diseases ⚠
- p.Leu341Ile Single submitter Inborn genetic diseases ⚠
- p.Leu376Val Single submitter Inborn genetic diseases ⚠
- p.Leu806Arg Single submitter Inborn genetic diseases ⚠
- p.Lys8Arg Single submitter Inborn genetic diseases ⚠
- p.Lys8Glu Single submitter Inborn genetic diseases ⚠
- p.Met188Val Single submitter Inborn genetic diseases ⚠
- p.Phe609Val Single submitter Inborn genetic diseases ⚠
- p.Pro280Leu Single submitter Inborn genetic diseases ⚠
- p.Pro402Ser Single submitter Inborn genetic diseases ⚠
- p.Pro419Leu Single submitter Inborn genetic diseases
- p.Pro490Thr Single submitter Inborn genetic diseases ⚠
- p.Pro676Ser Single submitter Inborn genetic diseases ⚠
- p.Pro717Ala Single submitter Inborn genetic diseases ⚠
- p.Ser148Cys Single submitter Inborn genetic diseases ⚠
- p.Ser236Thr Single submitter Inborn genetic diseases ⚠
- p.Ser337Cys Single submitter Inborn genetic diseases ⚠
- p.Ser346Phe Single submitter Inborn genetic diseases ⚠
- p.Ser430Cys Single submitter Inborn genetic diseases ⚠
- p.Ser443Leu Single submitter Inborn genetic diseases ⚠
- p.Ser784Ala Single submitter Inborn genetic diseases ⚠
- p.Thr112Ser Single submitter Inborn genetic diseases ⚠
- p.Thr125Lys Single submitter Inborn genetic diseases ⚠
- p.Thr208Ala Single submitter Inborn genetic diseases ⚠
- p.Thr258Ile Single submitter Inborn genetic diseases ⚠
- p.Thr342Arg Single submitter ⚠
- p.Thr495Ala Single submitter Inborn genetic diseases ⚠
- p.Thr683Ala Single submitter Inborn genetic diseases ⚠
- p.Thr743Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr217Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr279Cys Single submitter Inborn genetic diseases ⚠
- p.Val38Met Single submitter Inborn genetic diseases ⚠
- p.Val43Leu Single submitter Inborn genetic diseases ⚠
- p.Val469Glu Single submitter Inborn genetic diseases ⚠
- p.Val469Leu Single submitter Inborn genetic diseases ⚠
- p.Val487Ile Single submitter Inborn genetic diseases ⚠
- p.Val498Ile Single submitter Inborn genetic diseases ⚠
- p.Val574Ile Single submitter Inborn genetic diseases ⚠
- p.Val628Ile Single submitter Inborn genetic diseases ⚠
- p.Val689Gly Single submitter Inborn genetic diseases ⚠
- p.Val788Gly Single submitter Inborn genetic diseases ⚠
- p.Arg723Cys No assertion criteria LRP12-related disorder ⚠