ClinVar for MedGen (Select 1643124) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256711	NC_000002.12:g.202467519del	BMPR2	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 3242570	NM_001204.7(BMPR2):c.663del (p.Leu222fs)	BMPR2 (L222fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 2967078	NM_001204.7(BMPR2):c.667G>C (p.Asp223His)	BMPR2 (D223H)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +1 more	GConflicting classifications of pathogenicity
Select item 2626905	NM_001204.7(BMPR2):c.1285_1286insGATTG (p.Val429fs)	BMPR2 (V429fs)	Insertion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 2575218	NM_001204.7(BMPR2):c.2362G>A (p.Val788Ile)	BMPR2 (V788I)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 2500767	NM_001204.7(BMPR2):c.89A>G (p.Gln30Arg)	BMPR2 (Q30R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 2443070	NM_001204.7(BMPR2):c.1250T>G (p.Phe417Cys)	BMPR2 (F417C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 2056317	NM_001204.7(BMPR2):c.1882A>G (p.Thr628Ala)	BMPR2 (T628A)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 1679366	NM_001204.7(BMPR2):c.2454_2455del (p.His819fs)	BMPR2 (H819fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1589364	NM_001204.7(BMPR2):c.150A>G (p.Arg50=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +2 more	GLikely benign
Select item 1398400	NM_001204.7(BMPR2):c.2526G>T (p.Arg842Ser)	BMPR2 (R842S)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 1377673	NM_001204.7(BMPR2):c.983C>T (p.Ala328Val)	BMPR2 (A328V)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +2 more	GUncertain significance
Select item 1341467	NM_001321120.2(TBX4):c.1354A>G (p.Met452Val)	TBX4 (M451V +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341466	NM_001321120.2(TBX4):c.-3-581G>A	TBX4	Single nucleotide variant (intron variant +1 more)	Pulmonary hypertension, primary, 1	Gnot provided
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 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 1341463	NM_001321120.2(TBX4):c.916G>T (p.Glu306Ter)	TBX4 (E306*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GLikely pathogenic
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 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 1341459	NM_001321120.2(TBX4):c.1461dup (p.Pro488fs)	TBX4 (P487fs +1 more)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided
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 1341457	NM_001321120.2(TBX4):c.143dup (p.Pro50fs)	TBX4 (P50fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341456	NM_001321120.2(TBX4):c.1420_1423dup (p.Tyr475fs)	TBX4 (Y474fs +1 more)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
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 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 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 1341452	NM_001321120.2(TBX4):c.985G>T (p.Asp329Tyr)	TBX4 (D329Y)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
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 1341450	NM_001321120.2(TBX4):c.789del (p.Ser264fs)	TBX4 (S264fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
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 1341448	NM_001321120.2(TBX4):c.571_576del (p.Lys191_Tyr192del)	TBX4	Deletion (inframe_deletion)	Pulmonary hypertension, primary, 1	GUncertain significance
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 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 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 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 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 1341441	NM_001321120.2(TBX4):c.210dup (p.Leu71fs)	TBX4 (L71fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic/Likely pathogenic
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 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 1341436	NM_001321120.2(TBX4):c.146del (p.Gly49fs)	TBX4 (G49fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341435	NM_001321120.2(TBX4):c.847dup (p.Gln283fs)	TBX4 (Q283fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
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 1341431	NM_001321120.2(TBX4):c.1345G>A (p.Ala449Thr)	TBX4 (A448T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
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 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 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 1341425	NM_001321120.2(TBX4):c.64G>T (p.Gly22Ter)	TBX4 (G22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 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 1341416	NM_001321120.2(TBX4):c.150del (p.Ala52fs)	TBX4 (A52fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
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 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 1341412	NM_001321120.2(TBX4):c.500_502del (p.Ser167del)	TBX4 (S167del)	Deletion (inframe_deletion)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341411	NM_001321120.2(TBX4):c.1210G>A (p.Gly404Arg)	TBX4 (G403R +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GConflicting classifications of pathogenicity
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 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 1341405	NM_001321120.2(TBX4):c.231G>A (p.Trp77Ter)	TBX4 (W77*)	Single nucleotide variant (nonsense)	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 1341403	NM_001321120.2(TBX4):c.308_310dup (p.Lys103_Val104insGlu)	TBX4	Duplication (inframe_insertion)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341402	NM_001321120.2(TBX4):c.1426A>C (p.Asn476His)	TBX4 (N475H +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1330302	NM_001204.7(BMPR2):c.1519_1520insAT (p.Ile507fs)	BMPR2 (I507fs)	Insertion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
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 1214651	NM_001321120.2(TBX4):c.569A>C (p.His190Pro)	TBX4 (H190P)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GConflicting classifications of pathogenicity
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 1112108	NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn)	BMPR2 (T346N)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 1100664	NM_001204.7(BMPR2):c.1863G>A (p.Thr621=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +3 more	GLikely benign
Select item 1022721	NC_000002.12:g.(?_202513709)_(202532742_?)dup	BMPR2	Duplication	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 941179	NM_001204.7(BMPR2):c.1372_1373del (p.Gln458fs)	BMPR2 (Q458fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 898737	NM_001204.7(BMPR2):c.*7463T>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898736	NM_001204.7(BMPR2):c.*7419G>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898679	NM_001204.7(BMPR2):c.*5535G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 898678	NM_001204.7(BMPR2):c.*5252A>G	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 898616	NM_001204.7(BMPR2):c.*3017C>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898615	NM_001204.7(BMPR2):c.*2994A>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898614	NM_001204.7(BMPR2):c.*2963T>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898555	NM_001204.7(BMPR2):c.*734G>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898554	NM_001204.7(BMPR2):c.*607C>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898553	NM_001204.7(BMPR2):c.*491T>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898552	NM_001204.7(BMPR2):c.*488C>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898486	NM_001204.7(BMPR2):c.1698T>A (p.Ile566=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 898485	NM_001204.7(BMPR2):c.1677T>A (p.Thr559=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +1 more	GLikely benign
Select item 898484	NM_001204.7(BMPR2):c.1611G>A (p.Val537=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898483	NM_001204.7(BMPR2):c.1607G>A (p.Arg536His)	BMPR2 (R536H)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 898482	NM_001204.7(BMPR2):c.1586G>A (p.Arg529His)	BMPR2 (R529H)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 898481	NM_001204.7(BMPR2):c.1512T>G (p.Leu504=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 898418	NM_001204.7(BMPR2):c.-313G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898417	NM_001204.7(BMPR2):c.-344G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898416	NM_001204.7(BMPR2):c.-425G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 898415	NM_001204.7(BMPR2):c.-434G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 897582	NM_001204.7(BMPR2):c.*7388C>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 897581	NM_001204.7(BMPR2):c.*7273G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 897580	NM_001204.7(BMPR2):c.*7097A>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 897579	NM_001204.7(BMPR2):c.*6820T>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance

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