HR — 533 ClinVar variants
All ClinVar germline HR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 274 flagged for review →
18 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 27 Conflicting · 59 Benign · 21 Benign/Likely benign · 67 Likely benign · 328 Uncertain significance
Full HR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 274
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 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HR p.Ala1084Thr
Conflicting
Single submitter
atrichia with papular lesions
-
HR p.Ala740Thr
Conflicting
Single submitter
Inborn genetic diseases
-
HR p.Arg324Trp
Conflicting
Single submitter
atrichia with papular lesions
-
HR p.Arg518Gln
Conflicting
Single submitter
Inborn genetic diseases
-
HR p.Arg750Gln
Conflicting
Single submitter
Inborn genetic diseases
-
HR p.Arg836Leu
Conflicting
Single submitter
Inborn genetic diseases
-
HR p.Arg856Trp
Conflicting
Single submitter
atrichia with papular lesions
-
HR p.Glu540Lys
Conflicting
Single submitter
Inborn genetic diseases
-
HR p.Glu591Gly
Conflicting
Single submitter
atrichia with papular lesions
-
HR p.Gly325Asp
Conflicting
Single submitter
atrichia with papular lesions
-
HR p.Thr714Met
Conflicting
Single submitter
Inborn genetic diseases
-
HR p.Thr888Arg
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 237
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 237
-
HR p.Ala1188Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Ala511Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Ala900Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Arg1095Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Arg1096Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Arg1099Leu
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Arg518Trp
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Arg565Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Arg602Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Arg602His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HR p.Arg687Gln Uncertain significance Multiple submitters
-
HR p.Arg687Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Arg836Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Arg838Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Arg856Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Arg879Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Arg98Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Arg998Gln
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Asp746Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Gln390Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Glu530Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Glu583Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Glu985Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Gly1114Arg
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Gly29Ser
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Gly339Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Gly339Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Gly653Arg
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Gly702Arg
Uncertain significance
Multiple submitters
alopecia universalis congenita
-
HR p.Gly943Glu
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Leu490Arg
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Lys457Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Lys637Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Pro1023Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Pro40Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Pro426Ser
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Pro432Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Pro46Ala
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Pro480Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Pro62Thr
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Ser278Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Ser618Asn
Uncertain significance
Multiple submitters
atrichia with papular lesions
-
HR p.Thr649Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Val1136Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Val449Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Ala1026Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala1062Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala1062Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala1077Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala137Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala257Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala475Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala47Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala495Gly
Uncertain significance
Single submitter
atrichia with papular lesions
-
HR p.Ala501Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala501Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala645Glu
Uncertain significance
Single submitter
atrichia with papular lesions
- HR p.Ala645Ser Uncertain significance Single submitter
-
HR p.Ala645Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala655Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala656Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala676Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala744Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala844Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala964Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Ala964Val Uncertain significance Single submitter
-
HR p.Ala991Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg1029Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg1058Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Arg1064His Uncertain significance Single submitter
-
HR p.Arg1067Cys
Uncertain significance
Single submitter
atrichia with papular lesions
-
HR p.Arg1067His
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg1095Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg1096Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Arg1099Gln Uncertain significance Single submitter
-
HR p.Arg118His
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg139Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg139Trp
Uncertain significance
Single submitter
atrichia with papular lesions
-
HR p.Arg215Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg245His
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg259Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg324Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg407Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg409Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg430Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg549Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg549Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg568Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg571Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg574Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg582Gln
Uncertain significance
Single submitter
atrichia with papular lesions
- HR p.Arg598Cys Uncertain significance Single submitter
-
HR p.Arg627His
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Arg697Gln Uncertain significance Single submitter
-
HR p.Arg697Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg750Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Arg775Gln Uncertain significance Single submitter
-
HR p.Arg792His
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg838Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Arg857Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Arg940Gln Uncertain significance Single submitter
- HR p.Arg982His Uncertain significance Single submitter
-
HR p.Arg98His
Uncertain significance
Single submitter
atrichia with papular lesions
- HR p.Arg998Trp Uncertain significance Single submitter
- HR p.Asp1021Asn Uncertain significance Single submitter
-
HR p.Asp1033Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Asp134His
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Asp299Asn Uncertain significance Single submitter
-
HR p.Asp34Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Asp484His
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Asp58Val Uncertain significance Single submitter
-
HR p.Asp71Val
Uncertain significance
Single submitter
alopecia universalis congenita
-
HR p.Asp738Asn
Uncertain significance
Single submitter
atrichia with papular lesions
-
HR p.Asp791Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Cys282Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Cys314Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Cys314Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Cys341Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Cys393Gly Uncertain significance Single submitter
- HR p.Cys603Ser Uncertain significance Single submitter
-
HR p.Gln250Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gln420Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gln441Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gln463Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gln498Glu
Uncertain significance
Single submitter
atrichia with papular lesions
-
HR p.Gln643Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gln67Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gln67His
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gln712Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Gln852His Uncertain significance Single submitter
- HR p.Glu1144Asp Uncertain significance Single submitter
-
HR p.Glu219Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Glu349Asp Uncertain significance Single submitter
-
HR p.Glu360Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Glu418Lys Uncertain significance Single submitter
-
HR p.Glu591Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Glu709Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Glu932Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly1037Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly1037Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly10Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly112Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly190Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly22Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly253Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly291Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly300Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly303Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly339Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Gly445Val
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 25
The independent predictors disagree with each other — read with care.
-
HR p.Arg1097His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Gly772Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HR p.Ala1062Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ala1116Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Ala766Thr Uncertain significance Single submitter
- HR p.Ala802Thr Uncertain significance Single submitter
-
HR p.Arg1096Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Arg927Cys Uncertain significance Single submitter
-
HR p.Asp1171Val
Uncertain significance
Single submitter
atrichia with papular lesions
- HR p.Glu760Lys Uncertain significance Single submitter
-
HR p.Gly895Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Leu971Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Lys378Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Lys808Glu Uncertain significance Single submitter
- HR p.Phe145Leu Uncertain significance Single submitter
- HR p.Phe65Leu Uncertain significance Single submitter
- HR p.Pro1113His Uncertain significance Single submitter
-
HR p.Pro1113Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Pro782Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Ser799Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Thr385Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- HR p.Trp186Cys Uncertain significance Single submitter
-
HR p.Trp383Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Tyr974Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
HR p.Val783Phe
Uncertain significance
Single submitter
atrichia with papular lesions
All HR variants
Pathogenic 18
- p.Arg940Ter Multiple submitters atrichia with papular lesions
- p.Ser667fs Multiple submitters atrichia with papular lesions
- c.2776+1G>A Single submitter alopecia universalis congenita
- c.-248C>T Single submitter
- c.-321A>G Single submitter
- p.Ala941fs Single submitter alopecia universalis congenita
- p.Asp1012Asn Single submitter alopecia universalis congenita
- p.Gln849Ter Single submitter
- p.Glu806Ter Single submitter
- p.Leu1098fs Single submitter
- p.Pro716fs Single submitter atrichia with papular lesions
- p.Ser388fs Single submitter
- p.Trp847Ter Single submitter alopecia universalis congenita
- c.2847-2_2847-1del No assertion criteria atrichia with papular lesions
- p.Arg613Ter No assertion criteria atrichia with papular lesions
- p.Gln1176Ter No assertion criteria atrichia with papular lesions
- p.Gln420fs No assertion criteria atrichia with papular lesions
- p.Val1136Asp No assertion criteria alopecia universalis congenita
Pathogenic/Likely pathogenic 3
- c.-320T>A Multiple submitters
- p.Arg819Ter Multiple submitters HR-related disorder
- p.Cys622Gly Multiple submitters HR-related disorder
Likely pathogenic 10
- c.1915+1G>A Single submitter atrichia with papular lesions
- c.2367+5G>C Single submitter
- c.-248C>G Single submitter
- p.Arg1067fs Single submitter alopecia universalis congenita
- p.Gln663fs Single submitter atrichia with papular lesions
- p.His376fs Single submitter
- p.Pro1143fs Single submitter alopecia universalis congenita
- p.Thr532fs Single submitter HR-related disorder
- p.Trp186Ter Single submitter HR-related disorder
- p.Tyr962Ter Single submitter
Conflicting classifications of pathogenicity 27
- c.2367+14C>T Single submitter atrichia with papular lesions
- c.-294A>T Single submitter HR-related disorder
- c.-579CCGCCGCGCTCT[3] Single submitter
- p.Ala1084Thr Single submitter atrichia with papular lesions ⚠
- p.Ala740Thr Single submitter Inborn genetic diseases ⚠
- p.Ala766= Single submitter atrichia with papular lesions
- p.Arg324Trp Single submitter atrichia with papular lesions ⚠
- p.Arg518Gln Single submitter Inborn genetic diseases ⚠
- p.Arg750Gln Single submitter Inborn genetic diseases ⚠
- p.Arg836Leu Single submitter Inborn genetic diseases ⚠
- p.Arg856Trp Single submitter atrichia with papular lesions ⚠
- p.Glu525= Single submitter atrichia with papular lesions
- p.Glu540Lys Single submitter Inborn genetic diseases ⚠
- p.Glu591Gly Single submitter atrichia with papular lesions ⚠
- p.Gly1076= Single submitter alopecia universalis congenita
- p.Gly1103= Single submitter atrichia with papular lesions
- p.Gly325Asp Single submitter atrichia with papular lesions ⚠
- p.Gly509= Single submitter atrichia with papular lesions
- p.Leu554= Single submitter atrichia with papular lesions
- p.Pro486= Single submitter atrichia with papular lesions
- p.Pro785Leu Single submitter atrichia with papular lesions
- p.Ser359= Single submitter atrichia with papular lesions
- p.Ser544= Single submitter atrichia with papular lesions
- p.Ser739= Single submitter atrichia with papular lesions
- p.Thr714Met Single submitter Inborn genetic diseases ⚠
- p.Thr888Arg Single submitter Inborn genetic diseases ⚠
- p.Val804= Single submitter atrichia with papular lesions
Benign 59
- c.1405+62C>T Multiple submitters
- c.1916-180T>G Multiple submitters
- c.2611-52T>C Multiple submitters
- c.2611-68C>T Multiple submitters
- c.2978-76C>T Multiple submitters
- c.3213+10C>T Multiple submitters atrichia with papular lesions
- c.3213+96T>C Multiple submitters
- c.3379-29G>T Multiple submitters alopecia universalis congenita
- c.3379-91T>G Multiple submitters
- c.3507+83G>A Multiple submitters
- c.612+208G>A Multiple submitters
- c.612+305T>A Multiple submitters
- c.-333T>C Multiple submitters atrichia with papular lesions
- c.-615T>G Multiple submitters alopecia universalis congenita
- c.*218T>C Multiple submitters atrichia with papular lesions
- c.*240C>A Multiple submitters atrichia with papular lesions
- c.*81C>T Multiple submitters atrichia with papular lesions
- c.*820G>C Multiple submitters atrichia with papular lesions
- c.*931T>C Multiple submitters atrichia with papular lesions
- p.Ala352Val Multiple submitters atrichia with papular lesions
- p.Ala503Thr Multiple submitters atrichia with papular lesions
- p.Ala652= Multiple submitters atrichia with papular lesions
- p.Arg1064= Multiple submitters atrichia with papular lesions
- p.Arg857His Multiple submitters alopecia universalis congenita
- p.Asp460= Multiple submitters atrichia with papular lesions
- p.Asp790= Multiple submitters alopecia universalis congenita
- p.Cys397Tyr Multiple submitters atrichia with papular lesions
- p.Cys487= Multiple submitters atrichia with papular lesions
- p.Gln528Arg Multiple submitters atrichia with papular lesions
- p.Glu636Gly Multiple submitters atrichia with papular lesions
- p.Gly337Asp Multiple submitters atrichia with papular lesions
- p.Gly524= Multiple submitters atrichia with papular lesions
- p.Gly702Trp Multiple submitters atrichia with papular lesions
- p.Gly823Ser Multiple submitters alopecia universalis congenita
- p.Leu526Pro Multiple submitters atrichia with papular lesions
- p.Leu873= Multiple submitters alopecia universalis congenita
- p.Lys9= Multiple submitters atrichia with papular lesions
- p.Pro1085Ala Multiple submitters atrichia with papular lesions
- p.Pro319Leu Multiple submitters atrichia with papular lesions
- p.Pro63Arg Multiple submitters atrichia with papular lesions
- p.Pro737= Multiple submitters alopecia universalis congenita
- p.Ser453= Multiple submitters atrichia with papular lesions
- p.Ser789= Multiple submitters alopecia universalis congenita
- p.Ser911Arg Multiple submitters alopecia universalis congenita
- p.Thr1022Ala Multiple submitters alopecia universalis congenita
- c.1406-281C>T Single submitter
- c.1750+108G>A Single submitter
- c.1915+28C>G Single submitter
- c.2122-20dup Single submitter
- c.2777-19G>A Single submitter
- c.2977+172G>A Single submitter
- c.3097+10C>A Single submitter
- c.*599T>G Single submitter alopecia universalis congenita
- c.*756G>T Single submitter alopecia universalis congenita
- p.Ala243= Single submitter
- p.Arg620Gly Single submitter atrichia with papular lesions
- p.Arg836= Single submitter
- p.Cys963= Single submitter
- p.Pro40Leu No assertion criteria HR-related disorder
Benign/Likely benign 21
- c.1406-20C>T Multiple submitters
- c.1557-13G>A Multiple submitters alopecia universalis congenita
- c.2006-16C>T Multiple submitters
- c.3378+18G>A Multiple submitters
- c.3507+12G>A Multiple submitters alopecia universalis congenita
- p.Ala576Val Multiple submitters alopecia universalis congenita
- p.Ala844= Multiple submitters
- p.Ala954= Multiple submitters atrichia with papular lesions
- p.Arg118Cys Multiple submitters
- p.Arg620Gln Multiple submitters atrichia with papular lesions
- p.Arg747His Multiple submitters
- p.Cys111= Multiple submitters alopecia universalis congenita
- p.Glu506Gly Multiple submitters atrichia with papular lesions
- p.Leu522= Multiple submitters
- p.Phe435= Multiple submitters atrichia with papular lesions
- p.Pro1113= Multiple submitters atrichia with papular lesions
- p.Pro1157Arg Multiple submitters alopecia universalis congenita
- p.Pro69Ser Multiple submitters alopecia universalis congenita
- p.Pro842= Multiple submitters alopecia universalis congenita
- p.Thr13Ala Multiple submitters alopecia universalis congenita
- p.Val1072= Multiple submitters alopecia universalis congenita
Likely benign 67
- c.3507+10A>G Multiple submitters
- p.Arg856Gln Multiple submitters Inborn genetic diseases
- p.Gly1083= Multiple submitters atrichia with papular lesions
- p.Ser644= Multiple submitters
- c.1405+6G>A Single submitter
- c.1751-11G>A Single submitter
- c.1915+8A>G Single submitter
- c.1916-15C>T Single submitter
- c.2006-6C>T Single submitter
- c.2203+6dup Single submitter
- c.2367+15G>A Single submitter
- c.2368-10C>T Single submitter
- c.2847-15C>A Single submitter
- c.3098-13C>A Single submitter
- c.3213+14C>T Single submitter
- c.3213+15G>C Single submitter
- c.3378+12C>A Single submitter
- c.3379-6A>G Single submitter
- c.3379-8C>T Single submitter
- c.3508-17CT[3] Single submitter
- c.*75G>A Single submitter alopecia universalis congenita
- c.*82G>T Single submitter atrichia with papular lesions
- c.*894G>A Single submitter atrichia with papular lesions
- p.Ala1079Thr Single submitter Inborn genetic diseases
- p.Ala1116= Single submitter
- p.Ala588= Single submitter Inborn genetic diseases
- p.Ala645= Single submitter
- p.Ala645Thr Single submitter Inborn genetic diseases
- p.Arg324Gly Single submitter Inborn genetic diseases
- p.Arg33Gln Single submitter Inborn genetic diseases
- p.Arg395= Single submitter
- p.Asn535= Single submitter
- p.Asp1061= Single submitter
- p.Asp58= Single submitter
- p.Gln987= Single submitter
- p.Glu101Lys Single submitter atrichia with papular lesions
- p.Glu1101= Single submitter
- p.Glu418= Single submitter
- p.Gly1042= Single submitter
- p.Gly444Arg Single submitter Inborn genetic diseases
- p.His1055= Single submitter
- p.His1154= Single submitter
- p.His387= Single submitter
- p.Leu1118= Single submitter
- p.Leu54= Single submitter
- p.Leu797= Single submitter
- p.Phe157= Single submitter
- p.Phe199= Single submitter
- p.Phe780= Single submitter
- p.Pro211= Single submitter
- p.Pro404= Single submitter Inborn genetic diseases
- p.Pro417= Single submitter
- p.Pro432= Single submitter
- p.Ser133= Single submitter
- p.Ser366Pro Single submitter Inborn genetic diseases
- p.Ser930= Single submitter
- p.Thr1145= Single submitter
- p.Thr161= Single submitter Inborn genetic diseases
- p.Thr649= Single submitter
- p.Val187= Single submitter
- p.Val400= Single submitter
- p.Val419Ile Single submitter Inborn genetic diseases
- p.Val805= Single submitter
- c.2122-10G>A No assertion criteria HR-related disorder
- p.Gly80= No assertion criteria HR-related disorder
- p.Leu488= No assertion criteria HR-related disorder
- p.Pro183= No assertion criteria HR-related disorder
Uncertain significance 328
Showing the top 300 by review status; the full set is in the sitemap.
- c.*180G>A Multiple submitters atrichia with papular lesions
- c.*295G>A Multiple submitters atrichia with papular lesions
- p.Ala1188Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala511Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala555Thr Multiple submitters Inborn genetic diseases
- p.Ala900Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg1095Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1096Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1097His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1099Leu Multiple submitters atrichia with papular lesions ⚠
- p.Arg518Trp Multiple submitters atrichia with papular lesions ⚠
- p.Arg565Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg602Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg602His Multiple submitters Inborn genetic diseases ⚠
- p.Arg687Gln Multiple submitters ⚠
- p.Arg687Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg836Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg838Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg856Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg879Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg98Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg998Gln Multiple submitters atrichia with papular lesions ⚠
- p.Asp746Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln390Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu530Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu583Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu985Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly1114Arg Multiple submitters atrichia with papular lesions ⚠
- p.Gly29Ser Multiple submitters atrichia with papular lesions ⚠
- p.Gly339Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly339Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly653Arg Multiple submitters atrichia with papular lesions ⚠
- p.Gly702Arg Multiple submitters alopecia universalis congenita ⚠
- p.Gly772Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly943Glu Multiple submitters atrichia with papular lesions ⚠
- p.Leu490Arg Multiple submitters atrichia with papular lesions ⚠
- p.Lys457Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys637Glu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1023Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro40Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro426Ser Multiple submitters atrichia with papular lesions ⚠
- p.Pro432Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro46Ala Multiple submitters atrichia with papular lesions ⚠
- p.Pro480Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro62Thr Multiple submitters atrichia with papular lesions ⚠
- p.Ser278Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser618Asn Multiple submitters atrichia with papular lesions ⚠
- p.Thr649Met Multiple submitters Inborn genetic diseases ⚠
- p.Val1136Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val449Gly Multiple submitters Inborn genetic diseases ⚠
- c.1557-10C>T Single submitter atrichia with papular lesions
- c.1916-7C>G Single submitter
- c.2006-4C>T Single submitter atrichia with papular lesions
- c.2203+6C>T Single submitter atrichia with papular lesions
- c.2776+4A>G Single submitter atrichia with papular lesions
- c.2776+6_2776+17delinsGCCAGAGAGGAG Single submitter alopecia universalis congenita
- c.2777-10C>T Single submitter atrichia with papular lesions
- c.2846+8T>C Single submitter
- c.3098-13C>G Single submitter atrichia with papular lesions
- c.-106G>A Single submitter alopecia universalis congenita
- c.-136C>T Single submitter atrichia with papular lesions
- c.-241C>A Single submitter
- c.-255C>T Single submitter
- c.-302C>A Single submitter
- c.-326G>A Single submitter atrichia with papular lesions
- c.-380C>T Single submitter atrichia with papular lesions
- c.-40-14T>C Single submitter alopecia universalis congenita
- c.-411C>T Single submitter atrichia with papular lesions
- c.-439A>G Single submitter atrichia with papular lesions
- c.-443G>C Single submitter atrichia with papular lesions
- c.-469C>T Single submitter alopecia universalis congenita
- c.-572G>C Single submitter atrichia with papular lesions
- c.-599C>T Single submitter atrichia with papular lesions
- c.-621T>C Single submitter alopecia universalis congenita
- c.*1020C>A Single submitter alopecia universalis congenita
- c.*1054C>T Single submitter alopecia universalis congenita
- c.*1125C>T Single submitter alopecia universalis congenita
- c.*1145C>T Single submitter alopecia universalis congenita
- c.*1150C>T Single submitter atrichia with papular lesions
- c.*1253T>C Single submitter atrichia with papular lesions
- c.*1262G>C Single submitter atrichia with papular lesions
- c.*1270T>C Single submitter atrichia with papular lesions
- c.*185C>G Single submitter atrichia with papular lesions
- c.*294C>T Single submitter atrichia with papular lesions
- c.*303G>A Single submitter atrichia with papular lesions
- c.*30G>T Single submitter atrichia with papular lesions
- c.*420C>T Single submitter atrichia with papular lesions
- c.*579C>T Single submitter alopecia universalis congenita
- c.*597C>T Single submitter atrichia with papular lesions
- c.*617G>C Single submitter alopecia universalis congenita
- c.*734G>A Single submitter atrichia with papular lesions
- c.*746C>G Single submitter alopecia universalis congenita
- c.*751G>C Single submitter atrichia with papular lesions
- c.*76G>T Single submitter alopecia universalis congenita
- c.*820G>A Single submitter atrichia with papular lesions
- c.*885C>T Single submitter atrichia with papular lesions
- c.*904C>T Single submitter alopecia universalis congenita
- p.Ala1026Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1062Asp Single submitter Inborn genetic diseases ⚠
- p.Ala1062Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1062Val Single submitter Inborn genetic diseases ⚠
- p.Ala1077Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1116Ser Single submitter Inborn genetic diseases ⚠
- p.Ala137Pro Single submitter Inborn genetic diseases ⚠
- p.Ala257Thr Single submitter Inborn genetic diseases ⚠
- p.Ala475Asp Single submitter Inborn genetic diseases ⚠
- p.Ala47Gly Single submitter Inborn genetic diseases ⚠
- p.Ala495Gly Single submitter atrichia with papular lesions ⚠
- p.Ala501Gly Single submitter Inborn genetic diseases ⚠
- p.Ala501Thr Single submitter Inborn genetic diseases ⚠
- p.Ala645Glu Single submitter atrichia with papular lesions ⚠
- p.Ala645Ser Single submitter ⚠
- p.Ala645Val Single submitter Inborn genetic diseases ⚠
- p.Ala655Thr Single submitter Inborn genetic diseases ⚠
- p.Ala656Pro Single submitter Inborn genetic diseases ⚠
- p.Ala676Glu Single submitter Inborn genetic diseases ⚠
- p.Ala744Gly Single submitter Inborn genetic diseases ⚠
- p.Ala766Thr Single submitter ⚠
- p.Ala802Thr Single submitter ⚠
- p.Ala844Asp Single submitter Inborn genetic diseases ⚠
- p.Ala964Thr Single submitter Inborn genetic diseases ⚠
- p.Ala964Val Single submitter ⚠
- p.Ala991Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1029Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1058Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1064His Single submitter ⚠
- p.Arg1067Cys Single submitter atrichia with papular lesions ⚠
- p.Arg1067His Single submitter Inborn genetic diseases ⚠
- p.Arg1095Pro Single submitter Inborn genetic diseases ⚠
- p.Arg1096Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1096Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1099Gln Single submitter ⚠
- p.Arg118His Single submitter Inborn genetic diseases ⚠
- p.Arg139Gln Single submitter Inborn genetic diseases ⚠
- p.Arg139Trp Single submitter atrichia with papular lesions ⚠
- p.Arg215Thr Single submitter Inborn genetic diseases ⚠
- p.Arg245His Single submitter Inborn genetic diseases ⚠
- p.Arg259Gln Single submitter Inborn genetic diseases ⚠
- p.Arg324Gln Single submitter Inborn genetic diseases ⚠
- p.Arg386Gln Single submitter Inborn genetic diseases
- p.Arg407Leu Single submitter Inborn genetic diseases ⚠
- p.Arg409Trp Single submitter Inborn genetic diseases ⚠
- p.Arg430Trp Single submitter Inborn genetic diseases ⚠
- p.Arg549Gln Single submitter Inborn genetic diseases ⚠
- p.Arg549Trp Single submitter Inborn genetic diseases ⚠
- p.Arg568Cys Single submitter Inborn genetic diseases ⚠
- p.Arg571Gln Single submitter Inborn genetic diseases ⚠
- p.Arg574Gln Single submitter Inborn genetic diseases ⚠
- p.Arg582Gln Single submitter atrichia with papular lesions ⚠
- p.Arg598Cys Single submitter ⚠
- p.Arg627His Single submitter Inborn genetic diseases ⚠
- p.Arg697Gln Single submitter ⚠
- p.Arg697Trp Single submitter Inborn genetic diseases ⚠
- p.Arg750Leu Single submitter Inborn genetic diseases ⚠
- p.Arg775Gln Single submitter ⚠
- p.Arg792His Single submitter Inborn genetic diseases ⚠
- p.Arg838Gln Single submitter Inborn genetic diseases ⚠
- p.Arg857Cys Single submitter Inborn genetic diseases ⚠
- p.Arg927Cys Single submitter ⚠
- p.Arg940Gln Single submitter ⚠
- p.Arg982His Single submitter ⚠
- p.Arg98His Single submitter atrichia with papular lesions ⚠
- p.Arg998Trp Single submitter ⚠
- p.Asp1021Asn Single submitter ⚠
- p.Asp1033Glu Single submitter Inborn genetic diseases ⚠
- p.Asp1171Val Single submitter atrichia with papular lesions ⚠
- p.Asp134His Single submitter Inborn genetic diseases ⚠
- p.Asp299Asn Single submitter ⚠
- p.Asp34Asn Single submitter Inborn genetic diseases ⚠
- p.Asp484His Single submitter Inborn genetic diseases ⚠
- p.Asp58Val Single submitter ⚠
- p.Asp71Val Single submitter alopecia universalis congenita ⚠
- p.Asp738Asn Single submitter atrichia with papular lesions ⚠
- p.Asp791Asn Single submitter Inborn genetic diseases ⚠
- p.Cys282Ser Single submitter Inborn genetic diseases ⚠
- p.Cys314Phe Single submitter Inborn genetic diseases ⚠
- p.Cys314Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys341Trp Single submitter Inborn genetic diseases ⚠
- p.Cys393Gly Single submitter ⚠
- p.Cys603Ser Single submitter ⚠
- p.Cys722= Single submitter atrichia with papular lesions
- p.Gln250Arg Single submitter Inborn genetic diseases ⚠
- p.Gln420Arg Single submitter Inborn genetic diseases ⚠
- p.Gln441Arg Single submitter Inborn genetic diseases ⚠
- p.Gln463Arg Single submitter Inborn genetic diseases ⚠
- p.Gln498Glu Single submitter atrichia with papular lesions ⚠
- p.Gln528= Single submitter atrichia with papular lesions
- p.Gln643Arg Single submitter Inborn genetic diseases ⚠
- p.Gln67Arg Single submitter Inborn genetic diseases ⚠
- p.Gln67His Single submitter Inborn genetic diseases ⚠
- p.Gln712Lys Single submitter Inborn genetic diseases ⚠
- p.Gln852His Single submitter ⚠
- p.Glu1144Asp Single submitter ⚠
- p.Glu219Lys Single submitter Inborn genetic diseases ⚠
- p.Glu349Asp Single submitter ⚠
- p.Glu360Lys Single submitter Inborn genetic diseases ⚠
- p.Glu418Lys Single submitter ⚠
- p.Glu591Ala Single submitter Inborn genetic diseases ⚠
- p.Glu709Gly Single submitter Inborn genetic diseases ⚠
- p.Glu760Lys Single submitter ⚠
- p.Glu932Lys Single submitter Inborn genetic diseases ⚠
- p.Gly1037Ala Single submitter Inborn genetic diseases ⚠
- p.Gly1037Arg Single submitter Inborn genetic diseases ⚠
- p.Gly10Ala Single submitter Inborn genetic diseases ⚠
- p.Gly112Arg Single submitter Inborn genetic diseases ⚠
- p.Gly190Glu Single submitter Inborn genetic diseases ⚠
- p.Gly22Ser Single submitter Inborn genetic diseases ⚠
- p.Gly253Ala Single submitter Inborn genetic diseases ⚠
- p.Gly291Ala Single submitter Inborn genetic diseases ⚠
- p.Gly300Val Single submitter Inborn genetic diseases ⚠
- p.Gly303Glu Single submitter Inborn genetic diseases ⚠
- p.Gly339Arg Single submitter Inborn genetic diseases ⚠
- p.Gly445Val Single submitter Inborn genetic diseases ⚠
- p.Gly507Arg Single submitter Inborn genetic diseases ⚠
- p.Gly524Glu Single submitter atrichia with papular lesions ⚠
- p.Gly545Cys Single submitter Inborn genetic diseases ⚠
- p.Gly545Ser Single submitter Inborn genetic diseases ⚠
- p.Gly64Val Single submitter Inborn genetic diseases ⚠
- p.Gly78= Single submitter atrichia with papular lesions
- p.Gly895Arg Single submitter Inborn genetic diseases ⚠
- p.Gly896Val Single submitter alopecia universalis congenita
- p.Gly92Ser Single submitter Inborn genetic diseases ⚠
- p.Gly967Ala Single submitter ⚠
- p.His1139Gln Single submitter Inborn genetic diseases ⚠
- p.His184Asn Single submitter alopecia universalis congenita ⚠
- p.His464Gln Single submitter Inborn genetic diseases ⚠
- p.His605Arg Single submitter Inborn genetic diseases ⚠
- p.His619Tyr Single submitter Inborn genetic diseases ⚠
- p.His678Gln Single submitter Inborn genetic diseases ⚠
- p.Ile1016Leu Single submitter Inborn genetic diseases ⚠
- p.Ile213= Single submitter alopecia universalis congenita
- p.Ile454Val Single submitter atrichia with papular lesions ⚠
- p.Leu1006His Single submitter Inborn genetic diseases ⚠
- p.Leu1017= Single submitter atrichia with papular lesions
- p.Leu1038Pro Single submitter ⚠
- p.Leu248Arg Single submitter Inborn genetic diseases ⚠
- p.Leu558Met Single submitter Inborn genetic diseases ⚠
- p.Leu830Arg Single submitter Inborn genetic diseases ⚠
- p.Leu881Phe Single submitter Inborn genetic diseases ⚠
- p.Leu926Arg Single submitter Inborn genetic diseases ⚠
- p.Leu971Val Single submitter Inborn genetic diseases ⚠
- p.Lys1179= Single submitter atrichia with papular lesions
- p.Lys218Arg Single submitter Inborn genetic diseases ⚠
- p.Lys378Asn Single submitter Inborn genetic diseases ⚠
- p.Lys808Glu Single submitter ⚠
- p.Lys826Glu Single submitter ⚠
- p.Met103Val Single submitter Inborn genetic diseases ⚠
- p.Met255Arg Single submitter Inborn genetic diseases ⚠
- p.Phe145Leu Single submitter ⚠
- p.Phe391Ser Single submitter ⚠
- p.Phe65Leu Single submitter ⚠
- p.Pro1025Arg Single submitter ⚠
- p.Pro1046Leu Single submitter ⚠
- p.Pro1074Leu Single submitter atrichia with papular lesions ⚠
- p.Pro107Arg Single submitter Inborn genetic diseases ⚠
- p.Pro1113His Single submitter ⚠
- p.Pro1113Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1160Leu Single submitter Inborn genetic diseases ⚠
- p.Pro116Leu Single submitter Inborn genetic diseases ⚠
- p.Pro140Arg Single submitter Inborn genetic diseases ⚠
- p.Pro140Leu Single submitter ⚠
- p.Pro180Ser Single submitter Inborn genetic diseases ⚠
- p.Pro180Thr Single submitter Inborn genetic diseases ⚠
- p.Pro196Leu Single submitter Inborn genetic diseases ⚠
- p.Pro28= Single submitter atrichia with papular lesions
- p.Pro283Ser Single submitter Inborn genetic diseases ⚠
- p.Pro309Gln Single submitter ⚠
- p.Pro309Leu Single submitter Inborn genetic diseases ⚠
- p.Pro315Ser Single submitter ⚠
- p.Pro320Thr Single submitter Inborn genetic diseases ⚠
- p.Pro40= Single submitter atrichia with papular lesions
- p.Pro404Leu Single submitter Inborn genetic diseases ⚠
- p.Pro404Thr Single submitter Inborn genetic diseases ⚠
- p.Pro40Ser Single submitter Inborn genetic diseases ⚠
- p.Pro46Leu Single submitter Inborn genetic diseases ⚠
- p.Pro480= Single submitter alopecia universalis congenita
- p.Pro701Ala Single submitter Inborn genetic diseases ⚠
- p.Pro720Thr Single submitter Inborn genetic diseases ⚠
- p.Pro756Thr Single submitter Inborn genetic diseases ⚠
- p.Pro782Leu Single submitter Inborn genetic diseases ⚠
- p.Pro785= Single submitter atrichia with papular lesions
- p.Pro785Ser Single submitter Inborn genetic diseases ⚠
- p.Pro822= Single submitter
- p.Pro834Ser Single submitter Inborn genetic diseases ⚠
- p.Pro841Leu Single submitter alopecia universalis congenita ⚠
- p.Pro842Ala Single submitter Inborn genetic diseases ⚠
- p.Pro842Gln Single submitter Inborn genetic diseases ⚠
- p.Pro842Leu Single submitter Inborn genetic diseases ⚠
- p.Pro903His Single submitter Inborn genetic diseases ⚠
- p.Pro977Arg Single submitter Inborn genetic diseases ⚠
- p.Pro996Thr Single submitter Inborn genetic diseases ⚠
- p.Ser1132Asn Single submitter ⚠
- p.Ser133Asn Single submitter Inborn genetic diseases ⚠
- p.Ser197Thr Single submitter Inborn genetic diseases ⚠
- p.Ser212Asn Single submitter Inborn genetic diseases ⚠
- p.Ser388Leu Single submitter Inborn genetic diseases
- p.Ser799Arg Single submitter Inborn genetic diseases ⚠
- p.Ser875Leu Single submitter Inborn genetic diseases ⚠
- p.Ser922Tyr Single submitter Inborn genetic diseases ⚠
- p.Thr1108Pro Single submitter alopecia universalis congenita ⚠