Total 2 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 BECKER NEVUS SYNDROME, SOMATIC, MOSAIC CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC	Criteria Provided Multiple Submitters No Conflicts	CA366703663	rs_2128241302	3 SubmittersRCV001814893 RCV003320380 RCV005251290 RCV003320379 RCV003320381
NM_001101.5(ACTB):c.439C>A (p.Arg147Ser)	SNV Somatic	Chr7:5528644	Pathogenic	Congenital smooth muscle hamartoma BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC Becker nevus syndrome	Criteria Provided Single Submitter	CA366703661	rs_2128241302	3 SubmittersRCV001849711 RCV003320383 RCV003320384 RCV005251292