Total 13 pathogenic variants reported for Scalp-ear-nipple syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu)	SNV Germline	Chr18:26501147	Pathogenic	Scalp-ear-nipple syndrome	No Assertion Criteria Provided	CA143987	rs_587776998	2 SubmittersRCV000049292
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg)	SNV Germline	Chr18:26501144	Pathogenic	Scalp-ear-nipple syndrome	No Assertion Criteria Provided	CA143989	rs_587776999	2 SubmittersRCV000049293
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu)	SNV Germline	Chr18:26501144	Pathogenic	Scalp-ear-nipple syndrome	No Assertion Criteria Provided	CA143991	rs_587776999	2 SubmittersRCV000049294
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His)	SNV Germline	Chr18:26501144	Pathogenic	Scalp-ear-nipple syndrome	No Assertion Criteria Provided	CA143993	rs_587776999	2 SubmittersRCV000049295
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln)	SNV Germline	Chr18:26501137	Pathogenic	Scalp-ear-nipple syndrome	No Assertion Criteria Provided	CA143995	rs_587777000	2 SubmittersRCV000049296
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro)	SNV Germline	Chr18:26501138	Pathogenic	Scalp-ear-nipple syndrome	No Assertion Criteria Provided	CA143997	rs_587777001	2 SubmittersRCV000049297
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro)	SNV Germline	Chr18:26476603	Pathogenic	Scalp-ear-nipple syndrome	No Assertion Criteria Provided	CA143999	rs_587777002	2 SubmittersRCV000049298
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)	SNV Germline	Chr18:26476639	Likely pathogenic	Scalp-ear-nipple syndrome	Criteria Provided Single Submitter	CA144001	rs_587777003	3 SubmittersRCV000049299
NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu)	SNV Unknown	Chr18:26476617	Pathogenic	Scalp-ear-nipple syndrome	No Assertion Criteria Provided	CA10581455	rs_878853124	1 SubmittersRCV000224280
NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser)	SNV Unknown	Chr18:26501178	Pathogenic	Scalp-ear-nipple syndrome	No Assertion Criteria Provided	CA10581456	rs_878853125	1 SubmittersRCV000224008
NM_001142730.3(KCTD1):c.220G>T (p.Asp74Tyr)	SNV Germline	Chr18:26548317	Conflicting classifications of pathogenicity	not specified Scalp-ear-nipple syndrome	Criteria Provided Conflicting Classifications	CA297814861	rs_963330003	2 SubmittersRCV004195876 RCV005021742
NM_001142730.3(KCTD1):c.2545C>T (p.Arg849Trp)	SNV Germline	Chr18:26455796	Conflicting classifications of pathogenicity	Condition: not provided Scalp-ear-nipple syndrome not specified	Criteria Provided Conflicting Classifications	CA8922204	rs_759221642	3 SubmittersRCV003830562 RCV005015011 RCV004634371
NM_001142730.3(KCTD1):c.2056G>C (p.Asp686His)	SNV Germline	Chr18:26476592	Likely pathogenic	Scalp-ear-nipple syndrome	Criteria Provided Single Submitter		rs_2510943436	1 SubmittersRCV004594860