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 Neoplasm of ovary Proteus syndrome Breast neoplasm Non-small cell lung carcinoma Neoplasm of uterine cervix Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Hepatocellular carcinoma Prostate adenocarcinoma Small cell lung carcinoma Gastric adenocarcinoma Malignant melanoma of skin Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Tumor of meninges Thyroid tumor Bone osteosarcoma Prostate neoplasm Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation Lung adenocarcinoma Cowden syndrome 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA123660	rs_121434592	6 SubmittersRCV000015017 RCV000015018 RCV000015019 RCV000031926 RCV000430173 RCV000436698 RCV000438154 RCV000440828 RCV000443761 RCV000444311 RCV000419412 RCV000421850 RCV000427484 RCV000426386 RCV000429060 RCV000439982 RCV000434120 RCV000421009 RCV000421696 RCV000445271 RCV000431237 RCV000431723 RCV000795313 RCV001813745