"Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1330267	NM_000020.3(ACVRL1):c.68del (p.Pro23fs)	ACVRL1 (P23fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1330268	NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg)	ACVRL1 (C69R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1330270	NM_000020.3(ACVRL1):c.868C>T (p.Gln290Ter)	ACVRL1 (Q290*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1330269	NM_000020.3(ACVRL1):c.994A>G (p.Lys332Glu)	ACVRL1 (K332E)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 1527899	NM_000020.3(ACVRL1):c.1334_1335del (p.Asp445fs)	ACVRL1 (D445fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2683959	NM_000020.3(ACVRL1):c.1376del (p.Pro459fs)	ACVRL1 (P271fs +4 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic

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