"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ACVRL1"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381087	NM_000020.3(ACVRL1):c.42dup (p.Met15fs)	ACVRL1 (M15fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 847246	NM_000020.3(ACVRL1):c.86del (p.Gly29fs)	ACVRL1 (G29fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 212805	NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)	ACVRL1 (A49fs)	Duplication (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 1775896	NM_000020.3(ACVRL1):c.158T>C (p.Val53Ala)	ACVRL1 (V53A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1163055	NM_000020.3(ACVRL1):c.199C>G (p.Arg67Gly)	ACVRL1 (R67G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 212803	NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)	ACVRL1 (R67Q)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 572085	NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg)	ACVRL1 (G70R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1790556	NM_000020.3(ACVRL1):c.239_240insT (p.Thr82fs)	ACVRL1 (T82fs)	Insertion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 523311	NM_000020.3(ACVRL1):c.262T>G (p.Tyr88Asp)	ACVRL1 (Y88D)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 212806	NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)	ACVRL1 (G136fs)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 212804	NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)	ACVRL1 (R144*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1163056	NM_000020.3(ACVRL1):c.525+2T>C	ACVRL1	Single nucleotide variant (splice donor variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic
Select item 464763	NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)	ACVRL1 (D181fs)	Insertion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic
Select item 2683668	NM_000020.3(ACVRL1):c.543_544del (p.Asp181fs)	ACVRL1 (D181fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1343364	NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter)	ACVRL1 (C182*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 523779	NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)	ACVRL1 (Q201*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic
Select item 439379	NM_000020.3(ACVRL1):c.626-3C>G	ACVRL1	Single nucleotide variant (intron variant)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 464768	NM_000020.3(ACVRL1):c.641del (p.Gly214fs)	ACVRL1 (G214fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 236552	NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del)	ACVRL1 (S233del)	Microsatellite (inframe_deletion)	not provided +3 more	GPathogenic
Select item 439385	NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)	ACVRL1 (S233L)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 657805	NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)	ACVRL1 (E236K)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database
Select item 955228	NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter)	ACVRL1 (E242*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 835700	NM_000020.3(ACVRL1):c.772+1G>C	ACVRL1	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic
Select item 941644	NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)	ACVRL1 (T277K)	Single nucleotide variant (missense variant)	ACVRL1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1369820	NM_000020.3(ACVRL1):c.907G>C (p.Ala303Pro)	ACVRL1 (A303P)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GUncertain significance
Select item 464771	NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter)	ACVRL1 (C308*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 533349	NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser)	ACVRL1 (G309S)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 426021	NM_000020.3(ACVRL1):c.950T>C (p.Ile317Thr)	ACVRL1 (I317T)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 212802	NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)	ACVRL1 (S333I)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database
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 2735872	NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro)	ACVRL1 (A347P +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GLikely pathogenic
Select item 662026	NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro)	ACVRL1 (L349P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1163057	NM_000020.3(ACVRL1):c.1048+1G>A	ACVRL1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 2683202	NM_000020.3(ACVRL1):c.1049G>T (p.Gly350Val)	ACVRL1 (G162V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1163532	NM_000020.3(ACVRL1):c.1073del (p.Gly358fs)	ACVRL1 (G358fs)	Deletion (frameshift variant)	not provided	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 429940	NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)	ACVRL1 (E379K)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +3 more	GPathogenic/Likely pathogenic
Select item 8251	NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)	ACVRL1 (R411W)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 8243	NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	ACVRL1 (R411Q)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database
Select item 3381088	NM_000020.3(ACVRL1):c.1244del (p.Asn415fs)	ACVRL1 (N227fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 810860	NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser)	ACVRL1 (G416S)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 571573	NM_000020.3(ACVRL1):c.1246+1G>A	ACVRL1	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GPathogenic
Select item 2683669	NM_000020.3(ACVRL1):c.1347dup (p.Thr450fs)	ACVRL1 (T262fs +4 more)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 1509552	NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)	ACVRL1 (P449L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 212794	NM_000020.3(ACVRL1):c.1377+1G>A	ACVRL1 (V356M +1 more)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2 +3 more	GPathogenic/Likely pathogenic
Select item 2735879	NM_000020.3(ACVRL1):c.1396C>T (p.Gln466Ter)	ACVRL1 (Q296* +4 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 1384566	NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)	ACVRL1 (W472*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 372722	NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	ACVRL1 (R479*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 426035	NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln)	ACVRL1 (R479Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 8252	NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)	ACVRL1 (R484W)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia +4 more	GPathogenic
Select item 812855	NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu)	ACVRL1 (R484L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3380106	NM_000020.3(ACVRL1):c.1468C>G (p.Gln490Glu)	ACVRL1 (Q302E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426040	NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)	ACVRL1 (Q490*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database

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Items: 53