C4552070[trait identifier] AND "Wendy Chung Laboratory, Columbia Unive - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 264650	NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter)	BMPR2 (Q6*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425683	NM_001204.7(BMPR2):c.39G>A (p.Trp13Ter)	BMPR2 (W13*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425684	NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter)	BMPR2 (W16*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425689	NM_001204.7(BMPR2):c.76+2T>C	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425719	NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys)	BMPR2 (Y67C)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GPathogenic
Select item 425745	NM_001204.7(BMPR2):c.255G>A (p.Trp85Ter)	BMPR2 (W85*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 212816	NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg)	BMPR2 (C99R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 425768	NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr)	BMPR2 (C118Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 8799	NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp)	BMPR2 (C118W)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 8808	NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)	BMPR2 (C123R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 212817	NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser)	BMPR2 (N126S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +1 more	GPathogenic/Likely pathogenic
Select item 222513	NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)	BMPR2 (R147*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +3 more	GPathogenic
Select item 548686	NM_001204.7(BMPR2):c.529+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 1 +2 more	GPathogenic/Likely pathogenic
Select item 8812	NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)	BMPR2 (R211*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +3 more	GPathogenic
Select item 280019	NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter)	BMPR2 (R213*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 212810	NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr)	BMPR2 (R266T)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 425831	NM_001204.7(BMPR2):c.852+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 212815	NM_001204.7(BMPR2):c.853-2A>G	BMPR2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 425833	NM_001204.7(BMPR2):c.853-1G>A	BMPR2	Single nucleotide variant (splice acceptor variant)	Pulmonary arterial hypertension +1 more	GPathogenic/Likely pathogenic
Select item 8800	NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr)	BMPR2 (C347Y)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely pathogenic FDA Recognized database
Select item 425876	NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter)	BMPR2 (E376*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 212811	NM_001204.7(BMPR2):c.1128+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 425911	NM_001204.7(BMPR2):c.1276+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension associated with congenital heart disease	GLikely pathogenic
Select item 425935	NM_001204.7(BMPR2):c.1397G>A (p.Trp466Ter)	BMPR2 (W466*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425938	NM_001204.7(BMPR2):c.1413+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 425947	NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter)	BMPR2 (W484*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 425950	NM_001204.7(BMPR2):c.1460A>T (p.Asp487Val)	BMPR2 (D487V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 8802	NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)	BMPR2 (R491W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 8806	NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln)	BMPR2 (R491Q)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 425952	NM_001204.7(BMPR2):c.1483C>T (p.Gln495Ter)	BMPR2 (Q495*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 409828	NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp)	BMPR2 (E503D)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 425972	NM_001204.7(BMPR2):c.1981G>T (p.Glu661Ter)	BMPR2 (E661*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 548687	NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys)	BMPR2 (E785K)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +3 more	GConflicting classifications of pathogenicity
Select item 425984	NM_001204.7(BMPR2):c.2410_2413del (p.Val804fs)	BMPR2 (V804fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425996	NM_001204.7(BMPR2):c.2580del (p.Asn861fs)	BMPR2 (N861fs)	Deletion (frameshift variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 8805	NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)	BMPR2 (R873*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +1 more	GPathogenic/Likely pathogenic
Select item 8796	NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter)	BMPR2 (R899*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 426004	NM_001204.7(BMPR2):c.2730T>A (p.Cys910Ter)	BMPR2 (C910*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 237022	NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)	ENG, LOC102723566 (G545S +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +5 more	GConflicting classifications of pathogenicity
Select item 1341466	NM_001321120.2(TBX4):c.-3-581G>A	TBX4	Single nucleotide variant (genic upstream transcript variant +1 more)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 812874	NM_001321120.2(TBX4):c.40_49del (p.Phe14fs)	TBX4 (F14fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 1341425	NM_001321120.2(TBX4):c.64G>T (p.Gly22Ter)	TBX4 (G22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1341457	NM_001321120.2(TBX4):c.143dup (p.Pro50fs)	TBX4 (P50fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341436	NM_001321120.2(TBX4):c.146del (p.Gly49fs)	TBX4 (G49fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341416	NM_001321120.2(TBX4):c.150del (p.Ala52fs)	TBX4 (A52fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341458	NM_001321120.2(TBX4):c.153_181del (p.Val54fs)	TBX4 (V54fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341462	NM_001321120.2(TBX4):c.167C>T (p.Ala56Val)	TBX4 (A56V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341440	NM_001321120.2(TBX4):c.179_180dup (p.Glu61fs)	TBX4 (E61fs)	Microsatellite (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341441	NM_001321120.2(TBX4):c.210dup (p.Leu71fs)	TBX4 (L71fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1341465	NM_001321120.2(TBX4):c.229T>C (p.Trp77Arg)	TBX4 (W77R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341405	NM_001321120.2(TBX4):c.231G>A (p.Trp77Ter)	TBX4 (W77*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 800703	NM_001321120.2(TBX4):c.251del (p.Gly84fs)	TBX4 (G84fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 1185696	NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala)	TBX4 (P98A)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +1 more	GUncertain significance
Select item 1341442	NM_001321120.2(TBX4):c.293C>T (p.Pro98Leu)	TBX4 (P98L)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341443	NM_001321120.2(TBX4):c.299A>G (p.Tyr100Cys)	TBX4 (Y100C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341403	NM_001321120.2(TBX4):c.308_310dup (p.Lys103_Val104insGlu)	TBX4	Duplication (inframe_insertion)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341438	NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser)	TBX4 (G106S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GLikely pathogenic
Select item 1341417	NM_001321120.2(TBX4):c.380A>C (p.Tyr127Ser)	TBX4 (Y127S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341461	NM_001321120.2(TBX4):c.401G>C (p.Trp134Ser)	TBX4 (W134S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341460	NM_001321120.2(TBX4):c.432G>T (p.Met144Ile)	TBX4 (M144I)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341444	NM_001321120.2(TBX4):c.455C>T (p.Pro152Leu)	TBX4 (P152L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341412	NM_001321120.2(TBX4):c.500_502del (p.Ser167del)	TBX4 (S167del)	Deletion (inframe_deletion)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341415	NM_001321120.2(TBX4):c.509AGCTGA[1] (p.170KL[1])	TBX4	Microsatellite (inframe_deletion)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341446	NM_001321120.2(TBX4):c.529C>T (p.His177Tyr)	TBX4 (H177Y)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341426	NM_001321120.2(TBX4):c.538C>T (p.Pro180Ser)	TBX4 (P180S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341447	NM_001321120.2(TBX4):c.561_570dup (p.Lys191fs)	TBX4 (K191fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341448	NM_001321120.2(TBX4):c.571_576del (p.Lys191_Tyr192del)	TBX4	Deletion (inframe_deletion)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1214651	NM_001321120.2(TBX4):c.569A>C (p.His190Pro)	TBX4 (H190P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1341414	NM_001321120.2(TBX4):c.577C>T (p.Gln193Ter)	TBX4 (Q193*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341413	NM_001321120.2(TBX4):c.664del (p.Thr222fs)	TBX4 (T222fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341464	NM_001321120.2(TBX4):c.677C>A (p.Ser226Tyr)	TBX4 (S226Y)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 547941	NM_001321120.2(TBX4):c.702+1G>A	TBX4	Single nucleotide variant (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1341418	NM_001321120.2(TBX4):c.736G>A (p.Ala246Thr)	TBX4 (A246T)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341404	NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter)	TBX4 (R261*)	Single nucleotide variant (nonsense)	Coxopodopatellar syndrome	GPathogenic
Select item 1341449	NM_001321120.2(TBX4):c.782G>A (p.Arg261Gln)	TBX4 (R261Q)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341450	NM_001321120.2(TBX4):c.789del (p.Ser264fs)	TBX4 (S264fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 800705	NM_001321120.2(TBX4):c.792-1G>C	TBX4	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341451	NM_001321120.2(TBX4):c.809T>G (p.Ile270Ser)	TBX4 (I270S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341435	NM_001321120.2(TBX4):c.847dup (p.Gln283fs)	TBX4 (Q283fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341463	NM_001321120.2(TBX4):c.916G>T (p.Glu306Ter)	TBX4 (E306*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 812877	NM_001321120.2(TBX4):c.972del (p.Thr326fs)	TBX4 (T326fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 1341452	NM_001321120.2(TBX4):c.985G>T (p.Asp329Tyr)	TBX4 (D329Y)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
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 1341453	NM_001321120.2(TBX4):c.1021G>C (p.Ala341Pro)	TBX4 (A341P +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1327321	NM_001321120.2(TBX4):c.1021+1G>A	TBX4	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1341428	NM_001321120.2(TBX4):c.1027G>T (p.Gly343Cys)	TBX4 (G342C +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 800704	NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter)	TBX4 (R352* +1 more)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +2 more	GPathogenic
Select item 1341410	NM_001321120.2(TBX4):c.1058G>T (p.Arg353Leu)	TBX4 (R352L +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
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 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 1341429	NM_001321120.2(TBX4):c.1106G>A (p.Arg369His)	TBX4 (R368H +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 812880	NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)	TBX4 (P373fs +1 more)	Duplication (frameshift variant)	Coxopodopatellar syndrome +1 more	GPathogenic/Likely pathogenic
Select item 548694	NM_001321120.2(TBX4):c.1115del (p.Pro372fs)	TBX4 (P371fs +1 more)	Deletion (frameshift variant)	Pulmonary arterial hypertension associated with congenital heart disease +2 more	GConflicting classifications of pathogenicity
Select item 1341455	NM_001321120.2(TBX4):c.1122C>A (p.Tyr374Ter)	TBX4 (Y373* +1 more)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341406	NM_001321120.2(TBX4):c.1122C>G (p.Tyr374Ter)	TBX4 (Y373* +1 more)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	Gnot provided
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 1341432	NM_001321120.2(TBX4):c.1150T>C (p.Cys384Arg)	TBX4 (C383R +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
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 1341430	NM_001321120.2(TBX4):c.1167_1168del (p.Glu391fs)	TBX4 (E390fs +1 more)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided

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