"Baylor Genetics"[submitter] AND "ACVRL1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582605	NM_000020.3(ACVRL1):c.55dup (p.Thr19fs)	ACVRL1 (T19fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 8254	NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)	ACVRL1 (C344Y)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic
Select item 411314	NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)	ACVRL1 (R374Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1369732	NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp)	ACVRL1 (A400D)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GLikely pathogenic
Select item 1032139	NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)	ACVRL1 (G416A)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance

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