Total 18 pathogenic variants reported for Alopecia universalis congenita 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005144.5(HR):c.3407T>A (p.Val1136Asp) SNV
Germline		 Chr8:22116400 Pathogenic Alopecia universalis congenita No Assertion Criteria Provided
 CA210693 rs_121434448

1 SubmittersRCV000007756
NM_005144.5(HR):c.3034G>A (p.Asp1012Asn) SNV
Germline		 Chr8:22119227 Pathogenic Alopecia universalis congenita Criteria Provided
Single Submitter
 CA210694 rs_121434451

2 SubmittersRCV000007765
NM_005144.5(HR):c.2298G>A (p.Ala766=) SNV
Germline		 Chr8:22121134 Conflicting classifications of pathogenicity Atrichia with papular lesions
Condition: not provided
Alopecia universalis congenita		 Criteria Provided
Conflicting Classifications
 CA4662152 rs_145225497

2 SubmittersRCV000293033RCV003556366RCV000389753
NM_005144.5(HR):c.2217C>T (p.Ser739=) SNV
Germline		 Chr8:22121215 Conflicting classifications of pathogenicity Alopecia universalis congenita
Condition: not provided
Atrichia with papular lesions		 Criteria Provided
Conflicting Classifications
 CA4662175 rs_574361484

2 SubmittersRCV000350351RCV003718226RCV000402023
NM_005144.5(HR):c.2566C>T (p.Arg856Trp) SNV
Germline		 Chr8:22120760 Conflicting classifications of pathogenicity Alopecia universalis congenita
Atrichia with papular lesions
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4662081 rs_377059643

3 SubmittersRCV000294513RCV000351806RCV002523662RCV002523661
NM_005144.5(HR):c.2507G>T (p.Arg836Leu) SNV
Germline		 Chr8:22120819 Conflicting classifications of pathogenicity Atrichia with papular lesions
Alopecia universalis congenita
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4662092 rs_201739936

3 SubmittersRCV000306571RCV000360619RCV003343797RCV002523664
NM_005144.5(HR):c.1458A>G (p.Pro486=) SNV
Germline		 Chr8:22125680 Conflicting classifications of pathogenicity Alopecia universalis congenita
Atrichia with papular lesions
HR-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4662453 rs_144643140

3 SubmittersRCV000284730RCV000376792RCV004555570RCV003546554
NM_005144.5(HR):c.970C>T (p.Arg324Trp) SNV
Germline		 Chr8:22127472 Conflicting classifications of pathogenicity Alopecia universalis congenita
Atrichia with papular lesions
HR-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4662595 rs_143170974

3 SubmittersRCV000323657RCV000373623RCV004555572RCV000961860
NM_005144.5(HR):c.2367+14C>T SNV
Germline		 Chr8:22121051 Conflicting classifications of pathogenicity Atrichia with papular lesions
Condition: not provided
Alopecia universalis congenita		 Criteria Provided
Conflicting Classifications
 CA4662135 rs_112532092

2 SubmittersRCV000319714RCV002523666RCV000372091
NM_005144.5(HR):c.2776+1G>A SNV
Germline		 Chr8:22120341 Pathogenic Alopecia universalis congenita Criteria Provided
Single Submitter
 rs_773764015

2 SubmittersRCV000761440
NM_005144.5(HR):c.1527G>A (p.Gly509=) SNV
Germline		 Chr8:22125611 Conflicting classifications of pathogenicity Condition: not provided
Atrichia with papular lesions
Alopecia universalis congenita		 Criteria Provided
Conflicting Classifications
 rs_73549518

2 SubmittersRCV000906588RCV001163119RCV001163120
NM_005144.5(HR):c.3309C>T (p.Gly1103=) SNV
Germline		 Chr8:22116944 Conflicting classifications of pathogenicity Atrichia with papular lesions
Alopecia universalis congenita
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_558767137

2 SubmittersRCV001162687RCV001162688RCV002559554
NM_005144.5(HR):c.2354C>T (p.Pro785Leu) SNV
Germline		 Chr8:22121078 Conflicting classifications of pathogenicity Alopecia universalis congenita
Atrichia with papular lesions
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_140534514

2 SubmittersRCV001162898RCV001162897RCV002559560
NM_005144.5(HR):c.1772A>G (p.Glu591Gly) SNV
Germline		 Chr8:22123792 Conflicting classifications of pathogenicity Atrichia with papular lesions
Alopecia universalis congenita
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_137912857

2 SubmittersRCV001162999RCV001163000RCV003542327
NM_005144.5(HR):c.1662C>T (p.Leu554=) SNV
Germline		 Chr8:22125399 Conflicting classifications of pathogenicity Alopecia universalis congenita
Atrichia with papular lesions
Condition: not provided
HR-related disorder		 Criteria Provided
Conflicting Classifications
 rs_369191252

3 SubmittersRCV001165090RCV001165089RCV003565473RCV004555619
NM_005144.5(HR):c.974G>A (p.Gly325Asp) SNV
Germline		 Chr8:22127468 Conflicting classifications of pathogenicity Atrichia with papular lesions
Alopecia universalis congenita
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_200125747

2 SubmittersRCV001165318RCV001165319RCV002557416
NM_005144.5(HR):c.2541G>A (p.Trp847Ter) SNV
Germline		 Chr8:22120785 Pathogenic Alopecia universalis congenita Criteria Provided
Single Submitter
 rs_2131755289

1 SubmittersRCV002250954