"GeneDx"[submitter] AND "BMPR2"[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	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 1276634	NC_000002.12:g.202376036_202376045dup	BMPR2, LOC129935432	Duplication	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)	not provided +1 more	GBenign/Likely 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 897238	NM_001204.7(BMPR2):c.-924A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1203518	NM_001204.7(BMPR2):c.-921A>G	BMPR2	Single nucleotide variant (5 prime UTR variant)	not provided	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 1710893	NM_001204.7(BMPR2):c.104C>T (p.Ala35Val)	BMPR2 (A35V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425708	NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer)	BMPR2	Microsatellite (frameshift variant)	Pulmonary hypertension, primary, 1 +3 more	GPathogenic/Likely pathogenic
Select item 212814	NM_001204.7(BMPR2):c.186dup (p.Gly63fs)	BMPR2 (G63fs)	Duplication (frameshift variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 678684	NM_001204.7(BMPR2):c.247+248A>G	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 225305	NM_001204.7(BMPR2):c.276A>C (p.Gln92His)	BMPR2 (Q92H)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +3 more	GConflicting classifications of pathogenicity
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 425757	NM_001204.7(BMPR2):c.319T>C (p.Ser107Pro)	BMPR2 (S107P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1226765	NM_001204.7(BMPR2):c.418+55A>G	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256836	NM_001204.7(BMPR2):c.418+82G>A	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240822	NM_001204.7(BMPR2):c.418+212A>C	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 548685	NM_001204.7(BMPR2):c.419-38del	BMPR2	Deletion (intron variant)	Primary pulmonary hypertension +2 more	GConflicting classifications of pathogenicity
Select item 1706682	NM_001204.7(BMPR2):c.419-38T>A	BMPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1281801	NM_001204.7(BMPR2):c.529+64C>T	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229896	NM_001204.7(BMPR2):c.530-221G>A	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 425803	NM_001204.7(BMPR2):c.541C>T (p.Gln181Ter)	BMPR2 (Q181*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 162791	NM_001204.7(BMPR2):c.600A>C (p.Leu200=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +5 more	GBenign/Likely benign
Select item 257624	NM_001204.7(BMPR2):c.621+37C>G	BMPR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1206662	NM_001204.7(BMPR2):c.621+103C>G	BMPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 425826	NM_001204.7(BMPR2):c.796_799del (p.Arg266fs)	BMPR2 (R266fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 212810	NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr)	BMPR2 (R266T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 212809	NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter)	BMPR2 (Y282*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1198609	NM_001204.7(BMPR2):c.852+63A>T	BMPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211307	NM_001204.7(BMPR2):c.852+88T>C	BMPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269850	NM_001204.7(BMPR2):c.853-98C>G	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290664	NM_001204.7(BMPR2):c.853-22dup	BMPR2	Duplication (intron variant)	not provided	GBenign
Select item 1183520	NM_001204.7(BMPR2):c.853-23_853-22dup	BMPR2	Duplication (intron variant)	not provided	GBenign
Select item 257625	NM_001204.7(BMPR2):c.853-21dup	BMPR2	Duplication (intron variant)	not specified +1 more	GLikely benign
Select item 212815	NM_001204.7(BMPR2):c.853-2A>G	BMPR2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2136061	NM_001204.7(BMPR2):c.862dup (p.Cys288fs)	BMPR2 (C288fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1802020	NM_001204.7(BMPR2):c.895del (p.Trp298_Val299insTer)	BMPR2	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1227753	NM_001204.7(BMPR2):c.968-123_968-121del	BMPR2	Deletion (intron variant)	not provided	GBenign
Select item 425852	NM_001204.7(BMPR2):c.968-3C>G	BMPR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 8810	NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter)	BMPR2 (R332*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 1309924	NM_001204.7(BMPR2):c.1087C>G (p.Leu363Val)	BMPR2 (L363V)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +1 more	GConflicting classifications of pathogenicity
Select item 1195010	NM_001204.7(BMPR2):c.1091del (p.Val364fs)	BMPR2 (V364fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 425871	NM_001204.7(BMPR2):c.1097del (p.Pro366fs)	BMPR2 (P366fs)	Deletion (frameshift variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 977222	NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys)	BMPR2 (E376K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 212811	NM_001204.7(BMPR2):c.1128+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 1283353	NM_001204.7(BMPR2):c.1129-236G>T	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443070	NM_001204.7(BMPR2):c.1250T>G (p.Phe417Cys)	BMPR2 (F417C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1280785	NM_001204.7(BMPR2):c.1277-295C>T	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218562	NM_001204.7(BMPR2):c.1277-189del	BMPR2	Deletion (intron variant)	not provided	GLikely benign
Select item 1245786	NM_001204.7(BMPR2):c.1277-179A>C	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303232	NM_001204.7(BMPR2):c.1361C>T (p.Ser454Phe)	BMPR2 (S454F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1222909	NM_001204.7(BMPR2):c.1413+318C>T	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693063	NM_001204.7(BMPR2):c.1414-37dup	BMPR2	Duplication (intron variant)	not provided	GLikely benign
Select item 387167	NM_001204.7(BMPR2):c.1427T>G (p.Leu476Arg)	BMPR2 (L476R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 212812	NM_001204.7(BMPR2):c.1459G>T (p.Asp487Tyr)	BMPR2 (D487Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 8802	NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)	BMPR2 (R491W)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +3 more	GPathogenic
Select item 1281441	NM_001204.7(BMPR2):c.1586+172T>A	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269742	NM_001204.7(BMPR2):c.1586+290A>G	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676056	NM_001204.7(BMPR2):c.1587-116A>G	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265619	NM_001204.7(BMPR2):c.1789C>T (p.Arg597Ter)	BMPR2 (R597*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2574409	NM_001204.7(BMPR2):c.2042C>G (p.Ser681Cys)	BMPR2 (S681C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136528	NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn)	BMPR2 (S775N)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +3 more	GBenign
Select item 425996	NM_001204.7(BMPR2):c.2580del (p.Asn861fs)	BMPR2 (N861fs)	Deletion (frameshift variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 1305391	NM_001204.7(BMPR2):c.2693G>A (p.Gly898Asp)	BMPR2 (G898D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136529	NM_001204.7(BMPR2):c.2811G>A (p.Arg937=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +3 more	GBenign
Select item 1248918	NM_001204.7(BMPR2):c.2866+189G>C	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242241	NM_001204.7(BMPR2):c.2866+228C>T	BMPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663251	NM_001204.7(BMPR2):c.3108delinsAGT (p.Asn1036fs)	BMPR2 (N1036fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 333659	NM_001204.7(BMPR2):c.*309del	BMPR2	Deletion (3 prime UTR variant)	not provided +1 more	GLikely benign

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Items: 79