CD151 — 232 ClinVar variants
All ClinVar germline CD151 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →
2 Pathogenic · 4 Likely pathogenic · 9 Conflicting · 23 Benign · 7 Benign/Likely benign · 72 Likely benign · 115 Uncertain significance
Full CD151 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 93
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.
Predictors lean, ClinVar uncertain 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CD151 p.Ala145Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Ala81Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Arg165Gln
Uncertain significance
Multiple submitters
RAPH BLOOD GROUP SYSTEM
-
CD151 p.Arg86His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Arg91Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Glu6Lys
Uncertain significance
Multiple submitters
RAPH BLOOD GROUP SYSTEM
-
CD151 p.Gly55Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.His139Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Ile49Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Ile99Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Lys84Arg
Uncertain significance
Multiple submitters
RAPH BLOOD GROUP SYSTEM
-
CD151 p.Pro181Ser
Uncertain significance
Multiple submitters
RAPH BLOOD GROUP SYSTEM
-
CD151 p.Thr120Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Val14Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Val71Ile
Uncertain significance
Multiple submitters
epidermolysis bullosa simplex 7, with nephropathy and deafness
- CD151 p.Ala111Thr Uncertain significance Single submitter
- CD151 p.Ala113Thr Uncertain significance Single submitter
-
CD151 p.Ala145Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CD151 p.Ala198Val Uncertain significance Single submitter
-
CD151 p.Ala231Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CD151 p.Arg133His Uncertain significance Single submitter
-
CD151 p.Arg178Cys
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
-
CD151 p.Arg86Pro
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
-
CD151 p.Asn5Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CD151 p.Asp163Asn Uncertain significance Single submitter
-
CD151 p.Cys185Ser
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
- CD151 p.Cys208Tyr Uncertain significance Single submitter
-
CD151 p.Gln116His
Uncertain significance
Single submitter
Inborn genetic diseases
- CD151 p.Glu174Ala Uncertain significance Single submitter
- CD151 p.Gly207Arg Uncertain significance Single submitter
- CD151 p.Gly207Ser Uncertain significance Single submitter
- CD151 p.Gly68Ser Uncertain significance Single submitter
- CD151 p.His252Tyr Uncertain significance Single submitter
-
CD151 p.Ile106Val
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
-
CD151 p.Ile216Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD151 p.Leu16Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CD151 p.Leu44Phe Uncertain significance Single submitter
-
CD151 p.Leu58Arg
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
-
CD151 p.Lys211Asn
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
- CD151 p.Met72Thr Uncertain significance Single submitter
-
CD151 p.Phe153Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD151 p.Phe215Leu
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
- CD151 p.Thr129Ile Uncertain significance Single submitter
- CD151 p.Thr187Met Uncertain significance Single submitter
- CD151 p.Thr241Met Uncertain significance Single submitter
- CD151 p.Tyr115His Uncertain significance Single submitter
- CD151 p.Tyr134Asn Uncertain significance Single submitter
- CD151 p.Val14Leu Uncertain significance Single submitter
Predictors split 44
The independent predictors disagree with each other — read with care.
-
CD151 p.Arg133Cys
Uncertain significance
Multiple submitters
RAPH BLOOD GROUP SYSTEM
-
CD151 p.Arg171Cys
Uncertain significance
Multiple submitters
epidermolysis bullosa simplex 7, with nephropathy and deafness
-
CD151 p.Arg87Trp
Uncertain significance
Multiple submitters
epidermolysis bullosa simplex 7, with nephropathy and deafness
- CD151 p.Arg91His Uncertain significance Multiple submitters
-
CD151 p.Asp147Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Leu110Val
Uncertain significance
Multiple submitters
epidermolysis bullosa simplex 7, with nephropathy and deafness
- CD151 p.Lys8Thr Benign/Likely benign Multiple submitters
-
CD151 p.Pro137Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Thr129Ala
Uncertain significance
Multiple submitters
epidermolysis bullosa simplex 7, with nephropathy and deafness
-
CD151 p.Tyr245His
Uncertain significance
Multiple submitters
RAPH BLOOD GROUP SYSTEM
-
CD151 p.Tyr253His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Val188Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD151 p.Ala107Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CD151 p.Ala107Thr Uncertain significance Single submitter
- CD151 p.Ala67Val Uncertain significance Single submitter
- CD151 p.Arg133Gly Uncertain significance Single submitter
- CD151 p.Arg171His Uncertain significance Single submitter
- CD151 p.Arg178His Uncertain significance Single submitter
- CD151 p.Arg86Cys Uncertain significance Single submitter
- CD151 p.Arg87Gly Uncertain significance Single submitter
- CD151 p.Asp196Glu Uncertain significance Single submitter
-
CD151 p.Cys242Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD151 p.Glu152Val
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
-
CD151 p.Glu168Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CD151 p.Glu168Lys Uncertain significance Single submitter
-
CD151 p.Gly176Ser
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
- CD151 p.Gly229Ser Uncertain significance Single submitter
- CD151 p.His139Leu Uncertain significance Single submitter
-
CD151 p.Ile106Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD151 p.Ile223Thr
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
- CD151 p.Leu110Phe Uncertain significance Single submitter
-
CD151 p.Leu51Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD151 p.Leu58Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD151 p.Lys123Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CD151 p.Lys127Gln Conflicting Single submitter
- CD151 p.Met238Leu Uncertain significance Single submitter
- CD151 p.Met35Thr Uncertain significance Single submitter
- CD151 p.Met72Val Uncertain significance Single submitter
- CD151 p.Ser50Thr Uncertain significance Single submitter
-
CD151 p.Thr41Met
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
- CD151 p.Thr82Ile Uncertain significance Single submitter
-
CD151 p.Tyr115Cys
Uncertain significance
Single submitter
epidermolysis bullosa simplex 7, with nephropathy and deafness
- CD151 p.Tyr62Cys Uncertain significance Single submitter
-
CD151 p.Val188Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All CD151 variants
Pathogenic 2
- p.Lys7Ter Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness
- p.Asp128fs No assertion criteria epidermolysis bullosa simplex 7, with nephropathy and deafness
Likely pathogenic 4
- c.276+1G>T Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
- c.277-2A>C Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
- p.Cys208_Thr210del Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
- p.Thr69fs Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
Conflicting classifications of pathogenicity 9
- c.457-3C>T Single submitter
- p.Ala67= Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
- p.Arg165Ter Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
- p.Asn159= Single submitter RAPH BLOOD GROUP SYSTEM
- p.Gln136Ter Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
- p.Lys127Gln Single submitter ⚠
- p.Lys84Asn Single submitter ⚠
- p.Ser144= Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
- p.Tyr48fs Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
Benign 23
- c.351+128G>C Multiple submitters
- c.351+21A>G Multiple submitters
- c.352-129G>C Multiple submitters
- c.352-166G>A Multiple submitters
- c.457-24A>C Multiple submitters
- c.616-29C>T Multiple submitters
- c.703-23C>T Multiple submitters
- c.85-24A>G Multiple submitters
- c.-7-186C>T Multiple submitters
- c.-7-291T>C Multiple submitters
- c.-7-40C>T Multiple submitters
- c.-7-55T>C Multiple submitters
- c.*227A>G Multiple submitters
- c.*232C>T Multiple submitters
- p.Gly193= Multiple submitters
- c.276+107del Single submitter
- c.277-3del Single submitter
- c.456+24C>T Single submitter
- c.457-14T>C Single submitter
- c.615+154C>T Single submitter
- c.615+44del Single submitter
- c.615+51del Single submitter
- p.Gly229= Single submitter
Benign/Likely benign 7
- c.277-3dup Multiple submitters
- c.457-16C>T Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness
- c.703-18A>G Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness
- c.84+13C>T Multiple submitters
- c.84+20CCCCCA[4] Multiple submitters
- p.Cys80= Multiple submitters
- p.Lys8Thr Multiple submitters ⚠
Likely benign 72
- c.276+11C>T Multiple submitters RAPH BLOOD GROUP SYSTEM
- c.456+9G>A Multiple submitters RAPH BLOOD GROUP SYSTEM
- c.615+44T>G Multiple submitters
- c.616-17C>G Multiple submitters RAPH BLOOD GROUP SYSTEM
- c.703-15C>T Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness
- c.-7-185G>A Multiple submitters
- c.-7-20C>T Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness
- p.Asn160= Multiple submitters
- p.His139= Multiple submitters
- c.276+12G>A Single submitter
- c.277-10C>T Single submitter
- c.277-13C>A Single submitter
- c.277-20C>T Single submitter
- c.277-4C>A Single submitter
- c.277-5C>A Single submitter
- c.277-5C>G Single submitter
- c.277-9C>A Single submitter
- c.351+7G>A Single submitter
- c.456+10T>G Single submitter
- c.456+20A>G Single submitter
- c.616-10C>T Single submitter
- c.616-11G>A Single submitter
- c.616-12C>T Single submitter
- c.616-13C>T Single submitter
- c.616-4G>A Single submitter
- c.616-5C>T Single submitter
- c.616-8C>T Single submitter
- c.616-9G>A Single submitter
- c.703-19C>T Single submitter
- c.703-33C>T Single submitter
- c.84+14G>A Single submitter
- c.84+16C>A Single submitter
- c.84+18_84+23dup Single submitter
- c.84+20CCCCCA[2] Single submitter
- c.84+30_84+41del Single submitter
- c.*198A>T Single submitter
- p.Ala175= Single submitter
- p.Arg87= Single submitter
- p.Arg87Leu Single submitter
- p.Asn5= Single submitter
- p.Asn88= Single submitter
- p.Asp128= Single submitter
- p.Asp182= Single submitter
- p.Cys208= Single submitter
- p.Glu251= Single submitter
- p.Gly177= Single submitter
- p.Ile63= Single submitter
- p.Leu110= Single submitter
- p.Leu20= Single submitter
- p.Leu51= Single submitter
- p.Leu77= Single submitter
- p.Leu89= Single submitter
- p.Leu98= Single submitter
- p.Lys8= Single submitter
- p.Phe4= Single submitter
- p.Ser158= Single submitter
- p.Ser54= Single submitter
- p.Thr13= Single submitter
- p.Thr143= Single submitter
- p.Thr187= Single submitter
- p.Thr214= Single submitter
- p.Thr241= Single submitter
- p.Thr69= Single submitter
- p.Tyr115= Single submitter
- p.Tyr23= Single submitter
- p.Tyr245= Single submitter
- p.Val146= Single submitter
- p.Val222Ile Single submitter Inborn genetic diseases
- p.Val233= Single submitter
- p.Val34= Single submitter
- p.Val70= Single submitter
- p.Tyr112= No assertion criteria CD151-related disorder
Uncertain significance 115
- c.352-11C>G Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness
- c.702+4A>G Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness
- c.702+5G>C Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness
- p.Ala145Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala81Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg133Cys Multiple submitters RAPH BLOOD GROUP SYSTEM ⚠
- p.Arg165Gln Multiple submitters RAPH BLOOD GROUP SYSTEM ⚠
- p.Arg171Cys Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Arg86His Multiple submitters Inborn genetic diseases ⚠
- p.Arg87Trp Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Arg91Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg91His Multiple submitters ⚠
- p.Asp147Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys243= Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness
- p.Gln117Ter Multiple submitters RAPH BLOOD GROUP SYSTEM
- p.Glu6Lys Multiple submitters RAPH BLOOD GROUP SYSTEM ⚠
- p.Gly55Asp Multiple submitters Inborn genetic diseases ⚠
- p.His139Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile49Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile99Leu Multiple submitters Inborn genetic diseases ⚠
- p.Leu110Val Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Lys84Arg Multiple submitters RAPH BLOOD GROUP SYSTEM ⚠
- p.Pro137Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro181Ser Multiple submitters RAPH BLOOD GROUP SYSTEM ⚠
- p.Thr120Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr129Ala Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Tyr245His Multiple submitters RAPH BLOOD GROUP SYSTEM ⚠
- p.Tyr253His Multiple submitters Inborn genetic diseases ⚠
- p.Val14Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val188Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val71Ile Multiple submitters epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- c.277-3C>G Single submitter
- c.277-9C>G Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
- c.352-3C>A Single submitter
- c.352-9C>G Single submitter
- c.456+3G>A Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
- c.616-3C>T Single submitter
- c.616-42_616-11del Single submitter
- c.702+3G>C Single submitter
- c.84+5G>C Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness
- p.Ala107Ser Single submitter Inborn genetic diseases ⚠
- p.Ala107Thr Single submitter ⚠
- p.Ala111Thr Single submitter ⚠
- p.Ala113Thr Single submitter ⚠
- p.Ala145Asp Single submitter Inborn genetic diseases ⚠
- p.Ala198Val Single submitter ⚠
- p.Ala231Pro Single submitter Inborn genetic diseases ⚠
- p.Ala67Val Single submitter ⚠
- p.Arg133Gly Single submitter ⚠
- p.Arg133His Single submitter ⚠
- p.Arg171His Single submitter ⚠
- p.Arg178Cys Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Arg178His Single submitter ⚠
- p.Arg195Ter Single submitter
- p.Arg86Cys Single submitter ⚠
- p.Arg86Pro Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Arg87Gly Single submitter ⚠
- p.Asn160del Single submitter
- p.Asn5Lys Single submitter Inborn genetic diseases ⚠
- p.Asp163Asn Single submitter ⚠
- p.Asp196Glu Single submitter ⚠
- p.Cys185Ser Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Cys208Tyr Single submitter ⚠
- p.Cys242Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln116His Single submitter Inborn genetic diseases ⚠
- p.Glu152Val Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Glu168Asp Single submitter Inborn genetic diseases ⚠
- p.Glu168Lys Single submitter ⚠
- p.Glu174Ala Single submitter ⚠
- p.Gly176Ser Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Gly207Arg Single submitter ⚠
- p.Gly207Ser Single submitter ⚠
- p.Gly229Ser Single submitter ⚠
- p.Gly68= Single submitter
- p.Gly68Ser Single submitter ⚠
- p.His139Leu Single submitter ⚠
- p.His154= Single submitter
- p.His252Tyr Single submitter ⚠
- p.Ile106Met Single submitter Inborn genetic diseases ⚠
- p.Ile106Val Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Ile216Leu Single submitter Inborn genetic diseases ⚠
- p.Ile223Thr Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Ile99= Single submitter
- p.Leu110Phe Single submitter ⚠
- p.Leu16Arg Single submitter Inborn genetic diseases ⚠
- p.Leu44Phe Single submitter ⚠
- p.Leu51Val Single submitter Inborn genetic diseases ⚠
- p.Leu58Arg Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Leu58Pro Single submitter Inborn genetic diseases ⚠
- p.Leu98del Single submitter
- p.Lys123Gln Single submitter Inborn genetic diseases ⚠
- p.Lys123Ter Single submitter
- p.Lys211Asn Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Met1Ile Single submitter
- p.Met238Leu Single submitter ⚠
- p.Met35Thr Single submitter ⚠
- p.Met72Thr Single submitter ⚠
- p.Met72Val Single submitter ⚠
- p.Phe153Cys Single submitter Inborn genetic diseases ⚠
- p.Phe215Leu Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Ser50Thr Single submitter ⚠
- p.Thr10del Single submitter
- p.Thr129Ile Single submitter ⚠
- p.Thr187Met Single submitter ⚠
- p.Thr241Met Single submitter ⚠
- p.Thr41Met Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Thr82Ile Single submitter ⚠
- p.Trp169Ter Single submitter
- p.Tyr115Cys Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness ⚠
- p.Tyr115His Single submitter ⚠
- p.Tyr134Asn Single submitter ⚠
- p.Tyr62Cys Single submitter ⚠
- p.Val14Leu Single submitter ⚠
- p.Val188Ala Single submitter Inborn genetic diseases ⚠
- p.Val73= Single submitter epidermolysis bullosa simplex 7, with nephropathy and deafness