LORICRIN — 136 ClinVar variants
All ClinVar germline LORICRIN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →
4 Pathogenic · 4 Likely pathogenic · 5 Conflicting · 9 Benign · 4 Benign/Likely benign · 18 Likely benign · 92 Uncertain significance
Full LORICRIN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 90
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- LORICRIN p.Thr19Ala Uncertain significance Multiple submitters
- LORICRIN p.Cys64Gly Uncertain significance Single submitter
- LORICRIN p.Gln213His Uncertain significance Single submitter
- LORICRIN p.Gly120Ser Uncertain significance Single submitter
- LORICRIN p.Gly150Ser Uncertain significance Single submitter
- LORICRIN p.Gly182Ser Uncertain significance Single submitter
- LORICRIN p.Gly23Ser Uncertain significance Single submitter
- LORICRIN p.Gly262Ser Uncertain significance Single submitter
- LORICRIN p.Gly27Ser Uncertain significance Single submitter
- LORICRIN p.Gly280Ser Uncertain significance Single submitter
- LORICRIN p.Gly287Cys Uncertain significance Single submitter
- LORICRIN p.Gly288Val Uncertain significance Single submitter
- LORICRIN p.Gly28Ser Uncertain significance Single submitter
- LORICRIN p.Gly35Ser Uncertain significance Single submitter
- LORICRIN p.Gly39Ser Uncertain significance Single submitter
- LORICRIN p.Gly41Cys Uncertain significance Single submitter
- LORICRIN p.Gly50Ser Uncertain significance Single submitter
- LORICRIN p.Gly85Arg Uncertain significance Single submitter
- LORICRIN p.Gly93Ser Uncertain significance Single submitter
- LORICRIN p.Pro221Leu Uncertain significance Single submitter
- LORICRIN p.Pro223Leu Uncertain significance Single submitter
- LORICRIN p.Ser211Leu Uncertain significance Single submitter
- LORICRIN p.Ser218Leu Uncertain significance Single submitter
- LORICRIN p.Ser284Phe Uncertain significance Single submitter
- LORICRIN p.Ser289Cys Uncertain significance Single submitter
- LORICRIN p.Ser311Phe Uncertain significance Single submitter
- LORICRIN p.Ser87Asn Uncertain significance Single submitter
- LORICRIN p.Ser91Thr Uncertain significance Single submitter
- LORICRIN p.Thr308Pro Uncertain significance Single submitter
- LORICRIN p.Tyr59His Uncertain significance Single submitter
- LORICRIN p.Val214Leu Uncertain significance Single submitter
Predictors split 56
The independent predictors disagree with each other — read with care.
- LORICRIN p.Gly108Ala Benign/Likely benign Multiple submitters
- LORICRIN p.Ser115Phe Uncertain significance Multiple submitters
- LORICRIN p.Ser169Phe Benign/Likely benign Multiple submitters
- LORICRIN p.Ser243Thr Uncertain significance Multiple submitters
- LORICRIN p.Val156Leu Benign Multiple submitters
- LORICRIN p.Cys16Arg Uncertain significance Single submitter
- LORICRIN p.Cys240Tyr Uncertain significance Single submitter
- LORICRIN p.Gly102Ala Uncertain significance Single submitter
- LORICRIN p.Gly107Arg Uncertain significance Single submitter
- LORICRIN p.Gly118Ser Uncertain significance Single submitter
- LORICRIN p.Gly118Val Uncertain significance Single submitter
- LORICRIN p.Gly124Asp Uncertain significance Single submitter
- LORICRIN p.Gly132Asp Uncertain significance Single submitter
- LORICRIN p.Gly134Asp Uncertain significance Single submitter
- LORICRIN p.Gly134Ser Uncertain significance Single submitter
- LORICRIN p.Gly142Arg Uncertain significance Single submitter
- LORICRIN p.Gly142Asp Uncertain significance Single submitter
- LORICRIN p.Gly147Cys Likely benign Single submitter
- LORICRIN p.Gly148Val Uncertain significance Single submitter
- LORICRIN p.Gly149Cys Uncertain significance Single submitter
- LORICRIN p.Gly150Ala Uncertain significance Single submitter
- LORICRIN p.Gly181Arg Uncertain significance Single submitter
- LORICRIN p.Gly184Asp Uncertain significance Single submitter
- LORICRIN p.Gly233Asp Uncertain significance Single submitter
- LORICRIN p.Gly236Asp Uncertain significance Single submitter
- LORICRIN p.Gly23Arg Uncertain significance Single submitter
- LORICRIN p.Gly244Cys Uncertain significance Single submitter
- LORICRIN p.Gly245Arg Uncertain significance Single submitter
-
LORICRIN p.Gly246Arg
Uncertain significance
Single submitter
loricrin keratoderma
- LORICRIN p.Gly246Asp Uncertain significance Single submitter
- LORICRIN p.Gly247Ala Uncertain significance Single submitter
- LORICRIN p.Gly255Cys Conflicting Single submitter
- LORICRIN p.Gly269Asp Uncertain significance Single submitter
- LORICRIN p.Gly287Asp Uncertain significance Single submitter
- LORICRIN p.Gly288Asp Uncertain significance Single submitter
- LORICRIN p.Gly39Arg Uncertain significance Single submitter
- LORICRIN p.Gly48Cys Uncertain significance Single submitter
- LORICRIN p.Gly52Cys Uncertain significance Single submitter
- LORICRIN p.Gly62Cys Uncertain significance Single submitter
- LORICRIN p.Gly71Arg Uncertain significance Single submitter
- LORICRIN p.Gly73Ala Uncertain significance Single submitter
- LORICRIN p.Gly73Asp Uncertain significance Single submitter
- LORICRIN p.Gly86Arg Uncertain significance Single submitter
- LORICRIN p.His299Pro Uncertain significance Single submitter
-
LORICRIN p.Pro12Ser
Uncertain significance
Single submitter
loricrin keratoderma
- LORICRIN p.Pro12Thr Uncertain significance Single submitter
- LORICRIN p.Pro296Arg Uncertain significance Single submitter
- LORICRIN p.Pro307Ala Uncertain significance Single submitter
- LORICRIN p.Ser121Phe Uncertain significance Single submitter
- LORICRIN p.Ser145Phe Likely benign Single submitter
- LORICRIN p.Ser174Ala Uncertain significance Single submitter
- LORICRIN p.Ser174Pro Uncertain significance Single submitter
- LORICRIN p.Ser185Pro Uncertain significance Single submitter
- LORICRIN p.Ser256Phe Uncertain significance Single submitter
- LORICRIN p.Tyr161His Uncertain significance Single submitter
- LORICRIN p.Tyr53His Uncertain significance Single submitter
All LORICRIN variants
Pathogenic 4
- p.Ser229fs Multiple submitters LOR-related disorders
- p.Gly173fs Single submitter loricrin keratoderma
- p.Ser270fs Single submitter
- p.Gln222fs No assertion criteria loricrin keratoderma
Likely pathogenic 4
- p.Gly162Ter Single submitter loricrin keratoderma
- p.Gly227fs Single submitter LOR-related disorders
- p.Tyr208Ter Single submitter loricrin keratoderma
- p.Tyr225fs Single submitter
Conflicting classifications of pathogenicity 5
- p.Gly255Cys Single submitter ⚠
- p.Gly292Ser Single submitter ⚠
- p.Gly41dup Single submitter loricrin keratoderma
- p.Ser91Cys Single submitter ⚠
- p.Val186Gly Single submitter ⚠
Benign 9
- p.Cys51= Multiple submitters
- p.Gly192_Gly195dup Multiple submitters
- p.Gly290= Multiple submitters
- p.Gly92= Multiple submitters
- p.Ser285Phe Multiple submitters
- p.Ser29Gly Multiple submitters
- p.Val156Leu Multiple submitters ⚠
- p.Gly28_Ser29insGlyGly Single submitter
- p.Gly48= Single submitter
Benign/Likely benign 4
- p.Gly108Ala Multiple submitters ⚠
- p.Gly283dup Multiple submitters
- p.Ser169Phe Multiple submitters ⚠
- p.Ser91Phe Multiple submitters loricrin keratoderma
Likely benign 18
- p.Ser101_Gly102insSerGlyGlyGlySer Multiple submitters
- p.Gly132= Single submitter
- p.Gly133= Single submitter
- p.Gly147Cys Single submitter ⚠
- p.Gly162= Single submitter
- p.Gly181= Single submitter
- p.Gly231= Single submitter
- p.Gly28_Ser29insGlyGlyGlyGly Single submitter
- p.Gly28_Ser29insGlyGlyGlyGlyGlyGly Single submitter
- p.Gly294= Single submitter
- p.Gly85= Single submitter
- p.Ile77Thr Single submitter
- p.Ser137_Ser141del Single submitter
- p.Ser145Phe Single submitter ⚠
- p.Ser250= Single submitter
- p.Ser257= Single submitter
- p.Ser60= Single submitter
- p.Tyr161= Single submitter
Uncertain significance 92
- p.Ser115Phe Multiple submitters ⚠
- p.Ser243Thr Multiple submitters ⚠
- p.Thr19Ala Multiple submitters ⚠
- p.121SSGGGSGCFSSGGGG[1] Single submitter
- p.Cys16Arg Single submitter ⚠
- p.Cys187fs Single submitter
- p.Cys240Tyr Single submitter ⚠
- p.Cys64Gly Single submitter ⚠
- p.Gln213His Single submitter ⚠
- p.Gln216fs Single submitter
- p.Gly100_Ser101insGlySerSerGlyGlyGly Single submitter
- p.Gly102Ala Single submitter ⚠
- p.Gly107Arg Single submitter ⚠
- p.Gly118Ser Single submitter ⚠
- p.Gly118Val Single submitter ⚠
- p.Gly120Ser Single submitter ⚠
- p.Gly124Asp Single submitter ⚠
- p.Gly132Asp Single submitter ⚠
- p.Gly134Asp Single submitter ⚠
- p.Gly134Ser Single submitter ⚠
- p.Gly142Arg Single submitter ⚠
- p.Gly142Asp Single submitter ⚠
- p.Gly148Val Single submitter ⚠
- p.Gly149Cys Single submitter ⚠
- p.Gly150Ala Single submitter ⚠
- p.Gly150Ser Single submitter ⚠
- p.Gly181Arg Single submitter ⚠
- p.Gly182Ser Single submitter ⚠
- p.Gly184Asp Single submitter ⚠
- p.Gly233Asp Single submitter ⚠
- p.Gly236Asp Single submitter ⚠
- p.Gly23Arg Single submitter ⚠
- p.Gly23Ser Single submitter ⚠
- p.Gly244Cys Single submitter ⚠
- p.Gly245Arg Single submitter ⚠
- p.Gly246Arg Single submitter loricrin keratoderma ⚠
- p.Gly246Asp Single submitter ⚠
- p.Gly247Ala Single submitter ⚠
- p.Gly26_Gly33del Single submitter
- p.Gly262Ser Single submitter ⚠
- p.Gly269Asp Single submitter ⚠
- p.Gly27Ser Single submitter ⚠
- p.Gly28_Ser29insGlyGlyGly Single submitter
- p.Gly280Ser Single submitter ⚠
- p.Gly283_Ser284insGlyGly Single submitter
- p.Gly287Asp Single submitter ⚠
- p.Gly287Cys Single submitter ⚠
- p.Gly288Asp Single submitter ⚠
- p.Gly288Val Single submitter ⚠
- p.Gly28Ser Single submitter ⚠
- p.Gly33= Single submitter
- p.Gly35Ser Single submitter ⚠
- p.Gly39Arg Single submitter ⚠
- p.Gly39Ser Single submitter ⚠
- p.Gly41Cys Single submitter ⚠
- p.Gly48Cys Single submitter ⚠
- p.Gly50Ser Single submitter ⚠
- p.Gly52Cys Single submitter ⚠
- p.Gly62Cys Single submitter ⚠
- p.Gly71Arg Single submitter ⚠
- p.Gly73_Gly74insSerSerGlyGlyGlyGly Single submitter
- p.Gly73Ala Single submitter ⚠
- p.Gly73Asp Single submitter ⚠
- p.Gly85Arg Single submitter ⚠
- p.Gly86Arg Single submitter ⚠
- p.Gly93Ser Single submitter ⚠
- p.His299Pro Single submitter ⚠
- p.Pro12Ser Single submitter loricrin keratoderma ⚠
- p.Pro12Thr Single submitter ⚠
- p.Pro221Leu Single submitter ⚠
- p.Pro223Leu Single submitter ⚠
- p.Pro296Arg Single submitter ⚠
- p.Pro307Ala Single submitter ⚠
- p.Ser121_Gly150del Single submitter
- p.Ser121Phe Single submitter ⚠
- p.Ser174Ala Single submitter ⚠
- p.Ser174Pro Single submitter ⚠
- p.Ser185Pro Single submitter ⚠
- p.Ser211Leu Single submitter ⚠
- p.Ser218Leu Single submitter ⚠
- p.Ser256Phe Single submitter ⚠
- p.Ser284Phe Single submitter ⚠
- p.Ser289Cys Single submitter ⚠
- p.Ser311Phe Single submitter ⚠
- p.Ser87Asn Single submitter ⚠
- p.Ser91Thr Single submitter ⚠
- p.Thr308Pro Single submitter ⚠
- p.Trp309Ter Single submitter
- p.Tyr161His Single submitter ⚠
- p.Tyr53His Single submitter ⚠
- p.Tyr59His Single submitter ⚠
- p.Val214Leu Single submitter ⚠