ClinVar for PMC (Select 5897357) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2769764	NM_000020.3(ACVRL1):c.983A>G (p.His328Arg)	ACVRL1 (H224R +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2767948	NM_002246.3(KCNK3):c.152G>T (p.Arg51Leu)	KCNK3 (R51L)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 2152043	NM_022454.4(SOX17):c.164C>T (p.Pro55Leu)	SOX17 (P55L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036707	NM_000020.3(ACVRL1):c.1408dup (p.Glu470fs)	ACVRL1 (E470fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 1946124	NM_001367549.1(ATP13A3):c.3328dup (p.Ser1110fs)	ATP13A3 (S1083fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1478658	NM_016204.4(GDF2):c.329G>A (p.Arg110Gln)	GDF2 (R110Q)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5 +1 more	GLikely pathogenic
Select item 1341454	NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser)	TBX4 (Y382S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341424	NM_001321120.2(TBX4):c.1546G>A (p.Glu516Lys)	TBX4 (E515K +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341423	NM_001321120.2(TBX4):c.1277C>A (p.Pro426Gln)	TBX4 (P425Q +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341422	NM_001321120.2(TBX4):c.1186T>C (p.Ser396Pro)	TBX4 (S395P +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341421	NM_001321120.2(TBX4):c.1012A>T (p.Lys338Ter)	TBX4 (K338*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1319603	NM_000020.3(ACVRL1):c.983A>C (p.His328Pro)	ACVRL1 (H328P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1204723	NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg)	ENG, LOC102723566 (S291R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
Select item 891902	NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys)	TBX4 (R369C +1 more)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +1 more	GLikely benign
Select item 848699	NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)	ACVRL1 (H328Y)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic FDA Recognized database
Select item 812881	NM_001321120.2(TBX4):c.1163_1170del (p.Thr388fs)	TBX4 (T387fs +1 more)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812880	NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)	TBX4 (P373fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 812877	NM_001321120.2(TBX4):c.972del (p.Thr326fs)	TBX4 (T326fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812874	NM_001321120.2(TBX4):c.40_49del (p.Phe14fs)	TBX4 (F14fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GLikely pathogenic
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 812840	NM_001204.7(BMPR2):c.2158C>T (p.Gln720Ter)	BMPR2 (Q720*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension	GPathogenic
Select item 812797	NM_001204.7(BMPR2):c.274del (p.Gln92fs)	BMPR2 (Q92fs)	Deletion (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 656236	NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)	ACVRL1 (C344R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 425766	NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr)	BMPR2 (C117Y)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 324258	NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val)	TBX4 (A357V +1 more)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GLikely benign
Select item 280837	NM_001204.7(BMPR2):c.1128+1G>C	BMPR2	Single nucleotide variant (splice donor variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 265371	NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	ENG (R93*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 56970	NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter)	SMAD9 (R294* +1 more)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 2 +1 more	GPathogenic
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

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Items: 29