Total 2 pathogenic variants reported for Proteus syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)	SNV Germline/somatic	Chr14:104780214	Pathogenic	Breast adenocarcinoma Carcinoma of colon Ovarian neoplasm Proteus syndrome Condition: not provided Neoplasm Cowden syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA123660	rs_121434592	6 SubmittersRCV000015017 RCV000015018 RCV000015019 RCV000031926 RCV001813745 RCV004668732 RCV000795313