Total 10 pathogenic variants reported for Uncombable hair syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_007113.4(TCHH):c.991C>T (p.Gln331Ter)	SNV Germline	Chr1:152112226	Likely pathogenic	Uncombable hair syndrome 3	Criteria Provided Single Submitter	CA1099028	rs_201930497	2 SubmittersRCV000415562
NM_003245.4(TGM3):c.1351C>T (p.Gln451Ter)	SNV Germline	Chr20:2332019	Pathogenic	Uncombable hair syndrome 2	No Assertion Criteria Provided	CA9731179	rs_779702016	1 SubmittersRCV000415528
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)	SNV Germline	Chr1:17270928	Conflicting classifications of pathogenicity	Uncombable hair syndrome 1 Condition: not provided PADI3-related disorder	Criteria Provided Conflicting Classifications	CA639859	rs_144080386	14 SubmittersRCV000415579 RCV001702455 RCV003932540
NM_016233.2(PADI3):c.335T>A (p.Leu112His)	SNV Germline	Chr1:17262194	Pathogenic/Likely pathogenic	Uncombable hair syndrome 1 Condition: not provided PADI3-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA639649	rs_142129409	16 SubmittersRCV000415522 RCV001528551 RCV003409583 RCV006362328
NM_016233.2(PADI3):c.1813C>A (p.Pro605Thr)	SNV Germline	Chr1:17282897	Pathogenic	Uncombable hair syndrome 1	No Assertion Criteria Provided	CA640249	rs_144944758	1 SubmittersRCV000415553
NM_016233.2(PADI3):c.856A>G (p.Thr286Ala)	SNV Germline	Chr1:17270903	Conflicting classifications of pathogenicity	Central centrifugal cicatricial alopecia not specified Uncombable hair syndrome 1	Criteria Provided Conflicting Classifications	CA639853	rs_139426141	4 SubmittersRCV000754631 RCV002249449 RCV005357979
NM_016233.2(PADI3):c.1669C>T (p.Arg557Trp)	SNV Germline	Chr1:17280704	Pathogenic/Likely pathogenic	Central centrifugal cicatricial alopecia Uncombable hair syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA640197	rs_140482516	2 SubmittersRCV000754633 RCV005860136
NM_016233.2(PADI3):c.274-2A>G	SNV Germline	Chr1:17262131	Pathogenic	Uncombable hair syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005859550