"CSER _CC_NCGL, University of Washington"[submitter] AND "ACVRL1"[gene - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161202	NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)	ACVRL1 (P30S)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign FDA Recognized database
Select item 161204	NM_000020.3(ACVRL1):c.890A>G (p.His297Arg)	ACVRL1 (H297R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 161203	NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His)	ACVRL1 (R386H)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 599332	NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe)	ACVRL1 (I417F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 161201	NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)	ACVRL1 (A482V)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign FDA Recognized database

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