Total 3 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 Cowden syndrome 6 Condition: not provided Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA123660	rs_121434592	6 SubmittersRCV000015017 RCV000015018 RCV000015019 RCV000031926 RCV000795313 RCV001813745 RCV004668732
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His)	SNV Germline	Chr14:104770390	Conflicting classifications of pathogenicity	Cowden syndrome 6 Condition: not provided Proteus syndrome Ovarian cancer Cowden syndrome 6 Familial cancer of breast Colorectal cancer	Criteria Provided Conflicting Classifications	CA349773	rs_113547523	4 SubmittersRCV000205643 RCV003237770 RCV005008148