Related gene-specific medical variations for Gene (Select 94) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687473	NM_000020.3(ACVRL1):c.180del (p.Arg61fs)	ACVRL1 (R61fs)	Deletion (frameshift variant +1 more)	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
Select item 2672146	NM_000020.3(ACVRL1):c.182G>A (p.Arg61Lys)	ACVRL1 (R61K)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
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 2575935	NM_000020.3(ACVRL1):c.905T>G (p.Leu302Arg)	ACVRL1 (L114R +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1679429	NM_000020.3(ACVRL1):c.1377+248_1377+251dup	ACVRL1	Duplication (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GBenign
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 1331087	NM_000020.3(ACVRL1):c.1378-368T>C	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 1330889	NM_000020.3(ACVRL1):c.1377+785G>A	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 1330784	NM_000020.3(ACVRL1):c.1111G>T (p.Gly371Cys)	ACVRL1 (G371C)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 1330750	NM_000020.3(ACVRL1):c.1432G>C (p.Ala478Pro)	ACVRL1 (A478P)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
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 1322799	NM_000020.3(ACVRL1):c.505C>T (p.Gln169Ter)	ACVRL1 (Q169*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1322795	NM_000020.3(ACVRL1):c.510del (p.Asp171fs)	ACVRL1 (D171fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 995685	NM_000020.3(ACVRL1):c.1378-417C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 994377	NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs)	ACVRL1 (S225fs)	Microsatellite (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 994343	NM_000020.3(ACVRL1):c.314-49G>C	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GBenign
Select item 994057	NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg)	ACVRL1 (S333R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 993409	NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn)	ACVRL1 (K229N)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 988834	NM_000020.3(ACVRL1):c.653G>A (p.Arg218Gln)	ACVRL1 (R218Q)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GLikely pathogenic
Select item 931944	NM_000020.3(ACVRL1):c.598C>G (p.Arg200Gly)	ACVRL1 (R200G)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 930608	NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter)	ACVRL1 (Q118*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 811884	NC_000012.12:g.51907469G>C	ACVRL1	Single nucleotide variant (genic upstream transcript variant)	Telangiectasia, hereditary hemorrhagic, type 2	GBenign
Select item 811874	NM_000020.3(ACVRL1):c.-5-59C>T	ACVRL1	Single nucleotide variant (5 prime UTR variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 811204	NM_000020.3(ACVRL1):c.773-3C>G	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 810973	NM_000020.3(ACVRL1):c.1378-115T>A	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GBenign
Select item 810898	NM_000020.3(ACVRL1):c.625+110_625+121del	ACVRL1	Deletion (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GBenign
Select item 633669	NM_000020.3(ACVRL1):c.1507C>T (p.Gln503Ter)	ACVRL1 (Q503*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 618511	NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg)	ACVRL1 (K373R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 617964	NM_000020.3(ACVRL1):c.870del (p.Arg291fs)	ACVRL1 (R291fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 617963	NM_000020.3(ACVRL1):c.1276T>A (p.Tyr426Asn)	ACVRL1 (Y426N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 617962	NM_000020.3(ACVRL1):c.1144del (p.Asp382fs)	ACVRL1 (D382fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 617961	NM_000020.3(ACVRL1):c.238C>T (p.Arg80Cys)	ACVRL1 (R80C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374607	NM_000020.3(ACVRL1):c.1406_1413dup (p.Trp472fs)	ACVRL1 (W472fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 254712	NM_000020.3(ACVRL1):c.772+27G>C	ACVRL1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 156349	NM_000020.3(ACVRL1):c.145G>C (p.Ala49Pro)	ACVRL1 (A49P)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	Gnot provided

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Items: 37