Total 17 pathogenic variants reported for Beaded hair

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)	SNV Germline	Chr12:52315936	Conflicting classifications of pathogenicity	Beaded hair Condition: not provided	Criteria Provided Conflicting Classifications	CA118533	rs_57802288	4 SubmittersRCV000007239 RCV000056954
NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys)	SNV Germline	Chr12:52287112	Pathogenic	Beaded hair Condition: not provided	No Assertion Criteria Provided	CA118850	rs_57419521	2 SubmittersRCV000007930 RCV000056952
NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)	SNV Germline	Chr12:52287145	Pathogenic	Beaded hair Condition: not provided	No Assertion Criteria Provided	CA118851	rs_56821304	2 SubmittersRCV000007931 RCV000056951
NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys)	SNV Germline	Chr12:52306270	Pathogenic	Beaded hair Condition: not provided	Criteria Provided Single Submitter	CA118924	rs_121909129	3 SubmittersRCV000008048 RCV000056959
NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp)	SNV Germline	Chr12:52306272	Pathogenic	Beaded hair Condition: not provided	No Assertion Criteria Provided	CA118925	rs_121909130	2 SubmittersRCV000008049 RCV000056960
NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys)	SNV Germline	Chr12:52306237	Pathogenic	Beaded hair Condition: not provided	No Assertion Criteria Provided	CA118926	rs_60687604	2 SubmittersRCV000008050 RCV000056957
NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp)	SNV Germline	Chr12:52302256	Pathogenic	Beaded hair Condition: not provided	No Assertion Criteria Provided	CA118927	rs_61091894	2 SubmittersRCV000008051 RCV000056963
NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln)	SNV Germline	Chr12:52306237	Pathogenic	Beaded hair Condition: not provided	No Assertion Criteria Provided	CA118928	rs_60687604	2 SubmittersRCV000008052 RCV000056958
NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu)	SNV Germline	Chr12:52302269	Pathogenic	Beaded hair Condition: not provided	No Assertion Criteria Provided	CA118929	rs_60612575	2 SubmittersRCV000008053 RCV000056965
NM_002282.3(KRT83):c.1018G>A (p.Glu340Lys)	SNV Germline	Chr12:52316491	Conflicting classifications of pathogenicity	Beaded hair not specified	Criteria Provided Conflicting Classifications	CA6577430	rs_553152302	2 SubmittersRCV000277622 RCV004021546
NM_002282.3(KRT83):c.1423C>T (p.Pro475Ser)	SNV Germline	Chr12:52314690	Conflicting classifications of pathogenicity	Beaded hair Condition: not provided	Criteria Provided Conflicting Classifications	CA6577252	rs_200232339	2 SubmittersRCV000344825 RCV003546510
NM_002282.3(KRT83):c.877C>T (p.Arg293Cys)	SNV Germline	Chr12:52316897	Conflicting classifications of pathogenicity	Beaded hair not specified	Criteria Provided Conflicting Classifications	CA6577492	rs_143037477	2 SubmittersRCV000339136 RCV004021547
NM_002282.3(KRT83):c.1252G>A (p.Glu418Lys)	SNV Germline	Chr12:52315903	Pathogenic	Beaded hair	No Assertion Criteria Provided	CA384920263	rs_1438087533	1 SubmittersRCV000515129
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter)	SNV Germline	Chr12:52288038	Conflicting classifications of pathogenicity	Beaded hair Condition: not provided	Criteria Provided Conflicting Classifications		rs_138597671	4 SubmittersRCV000680028 RCV003237985
NM_002282.3(KRT83):c.828G>A (p.Met276Ile)	SNV Germline	Chr12:52316946	Conflicting classifications of pathogenicity	Beaded hair	Criteria Provided Conflicting Classifications		rs_200274404	2 SubmittersRCV001109178
NM_002282.3(KRT83):c.790G>A (p.Val264Met)	SNV Germline	Chr12:52316984	Conflicting classifications of pathogenicity	Beaded hair Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_201459857	3 SubmittersRCV001109179 RCV003688901 RCV004032142
NM_002282.3(KRT83):c.389G>A (p.Arg130His)	SNV Germline	Chr12:52319360	Conflicting classifications of pathogenicity	Beaded hair not specified	Criteria Provided Conflicting Classifications		rs_139360978	2 SubmittersRCV001114926 RCV004032189