C4747394[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435377	NM_002890.3(RASA1):c.22_23inv (p.Ser8Leu)	RASA1 (S8L)	Inversion (missense variant)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 935233	NM_002890.3(RASA1):c.143C>G (p.Pro48Arg)	RASA1 (P48R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 854888	NM_002890.3(RASA1):c.566C>T (p.Thr189Met)	CCNH, RASA1 (T12M +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 2435378	NM_002890.3(RASA1):c.2119C>T (p.Arg707Cys)	CCNH, RASA1 (R530C +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 2435376	NM_002890.3(RASA1):c.2602C>A (p.Pro868Thr)	CCNH, RASA1 (P691T +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 464861	NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter)	CCNH, RASA1 (R903* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GPathogenic
Select item 2435375	NM_002890.3(RASA1):c.3070A>C (p.Lys1024Gln)	CCNH, RASA1 (K1024Q +1 more)	Single nucleotide variant (missense variant +3 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 464866	NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs)	CCNH, RASA1 (Q860fs +1 more)	Deletion (frameshift variant +3 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GConflicting classifications of pathogenicity