"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CCNH"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 411714	NM_002890.3(RASA1):c.613_617del (p.Leu205fs)	CCNH, RASA1 (L205fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +3 more	GPathogenic
Select item 464870	NM_002890.3(RASA1):c.656C>G (p.Ser219Ter)	CCNH, RASA1 (S219* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GPathogenic
Select item 1078218	NM_002890.3(RASA1):c.1209A>G (p.Pro403=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +3 more	GLikely benign
Select item 213660	NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)	CCNH, RASA1 (R711* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +4 more	GPathogenic
Select item 565648	NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter)	CCNH, RASA1 (R749* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +3 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 411713	NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter)	CCNH, RASA1 (Q1019* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GPathogenic/Likely pathogenic