BMPR2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425668	NM_001204.7(BMPR2):c.-947_-946delinsAT	BMPR2	Indel (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 333619	NM_001204.7(BMPR2):c.-933G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 896767	NM_001204.7(BMPR2):c.-930G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333620	NM_001204.7(BMPR2):c.-927AGC[4]	BMPR2	Microsatellite (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GLikely benign
Select item 333622	NM_001204.7(BMPR2):c.-927A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 333621	NM_001204.7(BMPR2):c.-927_-924delinsGGCGGCGGCGGCG	BMPR2	Indel (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 897238	NM_001204.7(BMPR2):c.-924A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary arterial hypertension	GBenign FDA Recognized database
Select item 333623	NM_001204.7(BMPR2):c.-922C>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1203518	NM_001204.7(BMPR2):c.-921A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 333624	NM_001204.7(BMPR2):c.-871G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333625	NM_001204.7(BMPR2):c.-837G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333626	NM_001204.7(BMPR2):c.-753C>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333627	NM_001204.7(BMPR2):c.-704C>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 333628	NM_001204.7(BMPR2):c.-702C>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333630	NM_001204.7(BMPR2):c.-594A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	Primary pulmonary hypertension +1 more	GUncertain significance
Select item 333631	NM_001204.7(BMPR2):c.-575A>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 898416	NM_001204.7(BMPR2):c.-425G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333632	NM_001204.7(BMPR2):c.-407G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	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 898418	NM_001204.7(BMPR2):c.-313G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 333633	NM_001204.7(BMPR2):c.-310A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GLikely benign
Select item 333634	NM_001204.7(BMPR2):c.-301G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +4 more	GBenign/Likely benign
Select item 333635	NM_001204.7(BMPR2):c.-212dup	BMPR2	Duplication (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 333636	NM_001204.7(BMPR2):c.-93A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 333637	NM_001204.7(BMPR2):c.-70G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 517622	NM_001204.6(BMPR2):c.(?_-63)_(76_?)+61del	BMPR2	Deletion	Idiopathic and/or familial pulmonary arterial hypertension	GPathogenic
Select item 425676	NM_001204.7(BMPR2):c.9dup (p.Ser4fs)	BMPR2 (S4fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 695404	NM_001204.7(BMPR2):c.9C>A (p.Ser3=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +2 more	GBenign
Select item 994099	NM_001204.7(BMPR2):c.12del (p.Leu5fs)	BMPR2 (L5fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1773990	NM_001204.7(BMPR2):c.14T>C (p.Leu5Pro)	BMPR2 (L5P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 425677	NM_001204.7(BMPR2):c.16_20del (p.Gln6fs)	BMPR2 (Q6fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
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 813011	NM_001204.7(BMPR2):c.19del (p.Arg7fs)	BMPR2 (R7fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 425678	NM_001204.7(BMPR2):c.21del (p.Trp9fs)	BMPR2 (W9fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425679	NM_001204.7(BMPR2):c.21_29delinsA (p.Pro8fs)	BMPR2 (P8fs)	Indel (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 813012	NM_001204.7(BMPR2):c.26_41del (p.Trp9fs)	BMPR2 (W9fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 425680	NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter)	BMPR2 (W9*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 425681	NM_001204.7(BMPR2):c.28C>T (p.Arg10Trp)	BMPR2 (R10W)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 2726190	NM_001204.7(BMPR2):c.29G>A (p.Arg10Gln)	BMPR2 (R10Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1667220	NM_001204.7(BMPR2):c.33G>A (p.Val11=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 425682	NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter)	BMPR2 (W13*)	Single nucleotide variant (nonsense)	not provided +1 more	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 8814	NM_001204.7(BMPR2):c.44del (p.Pro15fs)	BMPR2 (P15fs)	Deletion (frameshift variant)	Pulmonary venoocclusive disease 1 +1 more	GPathogenic
Select item 1093750	NM_001204.7(BMPR2):c.45A>G (p.Pro15=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
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 425685	NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)	BMPR2 (W16*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +2 more	GPathogenic
Select item 895425	NM_001204.7(BMPR2):c.57G>A (p.Leu19=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +2 more	GBenign/Likely benign
Select item 698629	NM_001204.7(BMPR2):c.63C>T (p.Val21=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2723905	NM_001204.7(BMPR2):c.67A>G (p.Thr23Ala)	BMPR2 (T23A)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 2164686	NM_001204.7(BMPR2):c.68C>T (p.Thr23Ile)	BMPR2 (T23I)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 425687	NM_001204.7(BMPR2):c.71C>A (p.Ala24Glu)	BMPR2 (A24E)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 812793	NM_001204.7(BMPR2):c.76+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 425688	NM_001204.7(BMPR2):c.76+1G>T	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 2745613	NM_001204.7(BMPR2):c.76+2T>A	BMPR2	Single nucleotide variant (splice donor variant)	Primary pulmonary hypertension	GPathogenic
Select item 812794	NM_001204.7(BMPR2):c.76+2T>G	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension	GLikely pathogenic
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 425690	NM_001204.7(BMPR2):c.76+5G>A	BMPR2	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic/Likely pathogenic
Select item 2156179	NM_001204.7(BMPR2):c.76+8G>C	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 2729217	NM_001204.7(BMPR2):c.76+17G>A	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GLikely benign
Select item 149279	GRCh38/hg38 2q33.1(chr2:202381624-202412885)x1	BMPR2	Copy number loss	See cases	GUncertain significance
Select item 812939	NM_001204.7(BMPR2):c.77-3572_418+119del	BMPR2	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GPathogenic
Select item 812940	NM_001204.7(BMPR2):c.77-2315_248-646del	BMPR2	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 425691	NM_001204.7(BMPR2):c.77-35_86del	BMPR2	Deletion (splice acceptor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 2754141	NM_001204.7(BMPR2):c.77-6T>G	BMPR2	Single nucleotide variant (intron variant)	Primary pulmonary hypertension	GUncertain significance
Select item 1493644	NM_001204.7(BMPR2):c.77-1_77delinsAA	BMPR2	Indel (splice acceptor variant)	Primary pulmonary hypertension	GLikely pathogenic
Select item 425692	NM_001204.7(BMPR2):c.77-1G>A	BMPR2	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 417478	NM_001204.6(BMPR2):c.77-?_418+?del	BMPR2	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 8816	NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del	BMPR2	Deletion	Pulmonary venoocclusive disease 1 +1 more	GPathogenic
Select item 2155534	NM_001204.7(BMPR2):c.80C>T (p.Ser27Leu)	BMPR2 (S27L)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 895426	NM_001204.7(BMPR2):c.81G>A (p.Ser27=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +1 more	GBenign
Select item 425699	NM_001204.7(BMPR2):c.82C>T (p.Gln28Ter)	BMPR2 (Q28*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 333638	NM_001204.7(BMPR2):c.86A>G (p.Asn29Ser)	BMPR2 (N29S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +3 more	GConflicting classifications of pathogenicity
Select item 425700	NM_001204.7(BMPR2):c.88C>T (p.Gln30Ter)	BMPR2 (Q30*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
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 425701	NM_001204.7(BMPR2):c.91G>T (p.Glu31Ter)	BMPR2 (E31*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension	GPathogenic
Select item 812795	NM_001204.7(BMPR2):c.93_94insT (p.Arg32fs)	BMPR2 (R32fs)	Insertion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 2132518	NM_001204.7(BMPR2):c.99A>T (p.Leu33=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 425702	NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg)	BMPR2 (C34R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 425703	NM_001204.7(BMPR2):c.103del (p.Ala35fs)	BMPR2 (A35fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 1710893	NM_001204.7(BMPR2):c.104C>T (p.Ala35Val)	BMPR2 (A35V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 895427	NM_001204.7(BMPR2):c.111A>G (p.Lys37=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 425704	NM_001204.7(BMPR2):c.116del (p.Pro39fs)	BMPR2 (P39fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 2764690	NM_001204.7(BMPR2):c.116C>T (p.Pro39Leu)	BMPR2 (P39L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1387800	NM_001204.7(BMPR2):c.120T>A (p.Tyr40Ter)	BMPR2 (Y40*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension	GPathogenic
Select item 8815	NM_001204.7(BMPR2):c.120T>G (p.Tyr40Ter)	BMPR2 (Y40*)	Single nucleotide variant (nonsense)	Pulmonary venoocclusive disease 1	GPathogenic
Select item 425705	NM_001204.7(BMPR2):c.124C>T (p.Gln42Ter)	BMPR2 (Q42*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425706	NM_001204.7(BMPR2):c.125A>G (p.Gln42Arg)	BMPR2 (Q42R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease	GPathogenic
Select item 1452839	NM_001204.7(BMPR2):c.135del (p.Gly45_Ile46insTer)	BMPR2	Deletion (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 195138	NM_001204.7(BMPR2):c.136A>G (p.Ile46Val)	BMPR2 (I46V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +2 more	GUncertain significance
Select item 425707	NM_001204.7(BMPR2):c.140G>A (p.Gly47Asp)	BMPR2 (G47D)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease	GPathogenic
Select item 838701	NM_001204.7(BMPR2):c.142dup (p.Glu48fs)	BMPR2 (E48fs)	Duplication (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 1679483	NM_001204.7(BMPR2):c.146del (p.Ser49fs)	BMPR2 (S49fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1605819	NM_001204.7(BMPR2):c.147T>G (p.Ser49Arg)	BMPR2 (S49R)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 1595730	NM_001204.7(BMPR2):c.147T>C (p.Ser49=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GLikely benign
Select item 2161924	NM_001204.7(BMPR2):c.150A>T (p.Arg50Ser)	BMPR2 (R50S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 1589364	NM_001204.7(BMPR2):c.150A>G (p.Arg50=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +2 more	GLikely benign
Select item 425708	NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer)	BMPR2	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1567918	NM_001204.7(BMPR2):c.165T>C (p.Asn55=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension	GBenign
Select item 425709	NM_001204.7(BMPR2):c.168del (p.Thr57fs)	BMPR2 (T57fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic

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