Total 5 pathogenic variants reported for Hemimegalencephaly

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_006218.4(PIK3CA):c.1059+12T>A	SNV Germline	Chr3:179203801	Conflicting classifications of pathogenicity	Hemimegalencephaly Overgrowth Facial asymmetry Cowden syndrome	Criteria Provided Conflicting Classifications	CA2710624	rs_200627037	2 SubmittersRCV000415184 RCV002524666
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)	SNV Germline/somatic	Chr1:11157174	Pathogenic	Breast neoplasm Glioblastoma Papillary renal cell carcinoma type 1 Hemimegalencephaly Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Reviewed By Expert Panel	CA16602264	rs_1057519914	3 SubmittersRCV000426008 RCV000442035 RCV000431432 RCV000494705 RCV001836813
NM_005614.4(RHEB):c.119A>T (p.Glu40Val)	SNV Somatic	Chr7:151490948	Likely pathogenic	Hemimegalencephaly	Criteria Provided Single Submitter		rs_1554438588	1 SubmittersRCV000656704