Total 1 pathogenic variants reported for Becker nevus syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001101.5(ACTB):c.439C>T (p.Arg147Cys)	SNV Germline/somatic	Chr7:5528644	Pathogenic	Baraitser-Winter syndrome 1 BECKER NEVUS, SOMATIC, MOSAIC BECKER NEVUS SYNDROME, SOMATIC, MOSAIC CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC	Criteria Provided Single Submitter		rs_2128241302	2 SubmittersRCV001814893 RCV003320380 RCV003320379 RCV003320381