ClinVar for MedGen (Select 9646) - ClinVar - NCBI

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Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11725811.	NM_002890.3(RASA1):c.768C>A (p.Tyr256Ter) GRCh37: Chr5:86628399 GRCh38: Chr5:87332582	CCNH, RASA1	Y256, Y79	Angioosteohypertrophic syndrome	Pathogenic (Jun 6, 2021)	no assertion criteria provided
Select item 11725802.	NM_002890.3(RASA1):c.543G>A (p.Trp181Ter) GRCh37: Chr5:86627168 GRCh38: Chr5:87331351	CCNH, RASA1	W181, W4	Angioosteohypertrophic syndrome	Pathogenic (Jun 6, 2021)	no assertion criteria provided
Select item 11725793.	NM_002890.3(RASA1):c.1980_1981dup (p.Lys661fs) GRCh37: Chr5:86670700-86670701 GRCh38: Chr5:87374883-87374884	CCNH, RASA1	K484fs, K661fs	Angioosteohypertrophic syndrome	Pathogenic (Jun 6, 2021)	no assertion criteria provided
Select item 10983234.	NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly) GRCh37: Chr3:178948044 GRCh38: Chr3:179230256	PIK3CA	D939G	Megalencephaly-capillary malformation-polymicrogyria syndrome, Segmental undergrowth associated with mainly venous malformation with capillary component, See cases	Pathogenic/Likely pathogenic (Dec 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4192225.	NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) GRCh37: Chr3:178922324 GRCh38: Chr3:179204536	PIK3CA	E365K	Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA-related condition, Cowden syndrome, Angioosteohypertrophic syndrome, not provided	Pathogenic (Feb 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1564466.	NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) GRCh37: Chr3:178917478 GRCh38: Chr3:179199690	PIK3CA	G118D	Cowden syndrome, Angioosteohypertrophic syndrome, not provided	Pathogenic (Jun 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 508537.	NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) GRCh37: Chr9:80412493 GRCh38: Chr9:77797577	GNAQ	R183Q	Familial multiple nevi flammei, Capillary malformation, Sturge-Weber syndrome, Angioosteohypertrophic syndrome, not provided, Segmental undergrowth associated with capillary malformation, Hemangiomatosis	Pathogenic/Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 397038.	NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) GRCh37: Chr3:178947865 GRCh38: Chr3:179230077	PIK3CA	G914R	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Pathogenic (Feb 12, 2022)	reviewed by expert panel FDA Recognized Database