"Clinical Genomics Laboratory, Washington University in St. Louis"[sub - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16001	NM_002890.3(RASA1):c.853C>T (p.Arg285Ter)	CCNH, RASA1 (R285* +1 more)	Single nucleotide variant (nonsense +1 more)	Vascular malformation +2 more	GPathogenic
Select item 3237416	NM_002890.3(RASA1):c.898A>G (p.Ser300Gly)	CCNH, RASA1 (S123G +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 411712	NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs)	CCNH, RASA1 (T453fs +1 more)	Microsatellite (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2762914	NM_002890.3(RASA1):c.1802AAG[1] (p.Glu602del)	CCNH, RASA1 (E602del +1 more)	Microsatellite (intron variant)	Capillary malformation-arteriovenous malformation 1 +1 more	GConflicting classifications of pathogenicity
Select item 3237444	NM_002890.3(RASA1):c.2318T>C (p.Leu773Pro)	CCNH, RASA1 (L596P +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 620150	NM_002890.3(RASA1):c.2365C>T (p.Arg789Ter)	CCNH, RASA1 (R789* +1 more)	Single nucleotide variant (nonsense +1 more)	Vascular malformation +2 more	GPathogenic
Select item 533443	NM_002890.3(RASA1):c.2773A>G (p.Ile925Val)	CCNH, RASA1 (I925V +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GUncertain significance