"Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Ch - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691333	NM_002890.3(RASA1):c.625_626del (p.Glu208_Ser209insTer)	CCNH, RASA1	Microsatellite (nonsense +1 more)	not provided	GPathogenic
Select item 1691327	NM_002890.3(RASA1):c.1149_1171del (p.Gly384fs)	CCNH, RASA1 (G207fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 652988	NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter)	CCNH, RASA1 (R398* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1691335	NM_002890.3(RASA1):c.1657dup (p.Tyr553fs)	CCNH, RASA1 (Y376fs +1 more)	Duplication (frameshift variant +1 more)	Capillary infantile hemangioma	GPathogenic
Select item 1691331	NM_002890.3(RASA1):c.1817dup (p.Val608fs)	CCNH, RASA1 (V431fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1691329	NM_002890.3(RASA1):c.2012-2A>G	CCNH, RASA1	Single nucleotide variant (splice acceptor variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1691328	NM_002890.3(RASA1):c.2184+1G>C	CCNH, RASA1	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 1691332	NM_002890.3(RASA1):c.2422_2423del (p.Gln808fs)	CCNH, RASA1 (Q631fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1691334	NM_002890.3(RASA1):c.2462T>A (p.Ile821Lys)	CCNH, RASA1 (I644K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 533449	NM_002890.3(RASA1):c.2603+1G>A	CCNH, RASA1	Single nucleotide variant (splice donor variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GPathogenic
Select item 949975	NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter)	CCNH, RASA1 (R1010* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GPathogenic