BMPR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935442, LOC129935443 +697 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935399, LOC129935400 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC106783501, LOC107980445 +1702 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935371, LOC129935372 +1686 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935269, LOC129935270 +1664 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	AAMP, ABCA12 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	LOC129935397, LOC129935398 +279 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 425667	NC_000002.12:g.202249539_202474756del225218	LOC129935432, LOC129935433 +12 more	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 812936	NC_000002.12:g.202369396_202377723del	BMPR2, LOC129935429 +6 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 812937	NC_000002.12:g.202373247_202381017del	LOC129935430, LOC129935431 +6 more	Deletion (genic upstream transcript variant)	Pulmonary arterial hypertension	GPathogenic
Select item 1276634	NC_000002.12:g.202376036_202376045dup	BMPR2, LOC129935432	Duplication	not provided	GBenign
Select item 333616	NM_001204.7(BMPR2):c.-1114A>C	BMPR2, LOC129935432	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 896766	NM_001204.7(BMPR2):c.-1029G>A	BMPR2, LOC129935432	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 2651825	NM_001204.7(BMPR2):c.-963GGC[16]	BMPR2, LOC129935432	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1707255	NM_001204.7(BMPR2):c.-963GGC[14]	BMPR2, LOC129935432	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1238911	NM_001204.7(BMPR2):c.-963GGC[15]	BMPR2, LOC129935432	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 333617	NM_001204.7(BMPR2):c.-963GGC[13]	BMPR2, LOC129935432	Microsatellite (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GBenign/Likely benign
Select item 3049579	NM_001204.7(BMPR2):c.-963GGC[8]	BMPR2, LOC129935432	Microsatellite (5 prime UTR variant)	BMPR2-related disorder	GLikely benign
Select item 3041823	NM_001204.7(BMPR2):c.-963GGC[9]	BMPR2, LOC129935432	Microsatellite (5 prime UTR variant)	BMPR2-related disorder	GBenign
Select item 333618	NM_001204.7(BMPR2):c.-963GGC[11]	BMPR2, LOC129935432	Microsatellite (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
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	GBenignFDA 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 333629	NM_001204.7(BMPR2):c.-669G>A	LOC129935434, BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary arterial hypertension	GBenignFDA Recognized database
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 425670	NM_001204.6(BMPR2):c.(?_-540)_(*1_?)del	LOC129935436, BMPR2 +1 more	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425669	NM_001204.6(BMPR2):c.(?_-540)_(76+1_77-1)del	BMPR2, LOC129935435	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
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)	Primary pulmonary hypertension +3 more	GBenign/Likely benign
Select item 333635	NM_001204.7(BMPR2):c.-212dup	BMPR2	Duplication (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +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 benignFDA 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 425675	NM_001204.6(BMPR2):c.(?_-1)_(*1_?)del	BMPR2, LOC129935435 +1 more	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425674	NM_001204.6(BMPR2):c.(?_-1)_(1128+1_1129-1)del	BMPR2, LOC129935435	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425673	NM_001204.6(BMPR2):c.(?_-1)_(529+1_530-1)del	LOC129935435, BMPR2	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425672	NM_001204.6(BMPR2):c.(?_-1)_(418+1_419-1)del	BMPR2, LOC129935435	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425671	NM_001204.6(BMPR2):c.(?_-1)_(76+1_77-1)del	BMPR2, LOC129935435	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 3766548	NM_001204.7(BMPR2):c.1A>G (p.Met1Val)	BMPR2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3585252	NM_001204.7(BMPR2):c.5C>G (p.Thr2Ser)	BMPR2 (T2S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
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)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3379411	NM_001204.7(BMPR2):c.10T>G (p.Ser4Ala)	BMPR2 (S4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3824938	NM_001204.7(BMPR2):c.12G>T (p.Ser4=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 3824950	NM_001204.7(BMPR2):c.21G>A (p.Arg7=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 arterial hypertension +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)	Primary pulmonary hypertension +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 3585253	NM_001204.7(BMPR2):c.38G>C (p.Trp13Ser)	BMPR2 (W13S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
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 3585254	NM_001204.7(BMPR2):c.39G>C (p.Trp13Cys)	BMPR2 (W13C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
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 3824798	NM_001204.7(BMPR2):c.41T>C (p.Leu14Pro)	BMPR2 (L14P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3824857	NM_001204.7(BMPR2):c.44C>T (p.Pro15Leu)	BMPR2 (P15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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)	Primary pulmonary hypertension	GPathogenic
Select item 425685	NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)	BMPR2 (W16*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 3824781	NM_001204.7(BMPR2):c.49A>T (p.Thr17Ser)	BMPR2 (T17S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 425686	NM_001204.6(BMPR2):c.51_814del	BMPR2, LOC129935435	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 3585255	NM_001204.7(BMPR2):c.55C>T (p.Leu19=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 895425	NM_001204.7(BMPR2):c.57G>A (p.Leu19=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +3 more	GBenign/Likely benign
Select item 698629	NM_001204.7(BMPR2):c.63C>T (p.Val21=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +4 more	GBenign/Likely benign
Select item 2723905	NM_001204.7(BMPR2):c.67A>G (p.Thr23Ala)	BMPR2 (T23A)	Single nucleotide variant (missense variant)	Pulmonary venoocclusive disease 1 +2 more	GBenign/Likely benign
Select item 3824822	NM_001204.7(BMPR2):c.68C>G (p.Thr23Ser)	BMPR2 (T23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164686	NM_001204.7(BMPR2):c.68C>T (p.Thr23Ile)	BMPR2 (T23I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3824789	NM_001204.7(BMPR2):c.69T>G (p.Thr23=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3824889	NM_001204.7(BMPR2):c.70G>A (p.Ala24Thr)	BMPR2 (A24T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3824732	NM_001204.7(BMPR2):c.75T>A (p.Ala25=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 812793	NM_001204.7(BMPR2):c.76+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension	GLikely pathogenic

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