C2973725[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813010	NM_002246.3(KCNK3):c.544G>C (p.Glu182Gln)	KCNK3 (E182Q)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely pathogenic
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	BMPR2, LOC129935429 +6 more	Deletion (genic upstream transcript variant)	Pulmonary arterial hypertension	GPathogenic
Select item 813011	NM_001204.7(BMPR2):c.19del (p.Arg7fs)	BMPR2 (R7fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	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 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 812793	NM_001204.7(BMPR2):c.76+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension	GLikely pathogenic
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 425690	NM_001204.7(BMPR2):c.76+5G>A	BMPR2	Single nucleotide variant (intron variant)	Pulmonary arterial hypertension +1 more	GPathogenic/Likely pathogenic
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 812795	NM_001204.7(BMPR2):c.93_94insT (p.Arg32fs)	BMPR2 (R32fs)	Insertion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 425702	NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg)	BMPR2 (C34R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
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 425719	NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys)	BMPR2 (Y67C)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GPathogenic
Select item 425722	NM_001204.7(BMPR2):c.203G>A (p.Gly68Asp)	BMPR2 (G68D)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 8797	NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter)	BMPR2 (S73*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 425726	NM_001204.7(BMPR2):c.244C>T (p.Gln82Ter)	BMPR2 (Q82*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 425730	NM_001204.7(BMPR2):c.247+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 812941	NM_001204.7(BMPR2):c.247+136_418+99del	BMPR2	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812942	NM_001204.7(BMPR2):c.247+804_418+3005del	BMPR2	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812796	NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr)	BMPR2 (C84Y)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 812797	NM_001204.7(BMPR2):c.274del (p.Gln92fs)	BMPR2 (Q92fs)	Deletion (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 425751	NM_001204.7(BMPR2):c.280T>G (p.Cys94Gly)	BMPR2 (C94G)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 425750	NM_001204.7(BMPR2):c.280T>C (p.Cys94Arg)	BMPR2 (C94R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 812798	NM_001204.7(BMPR2):c.288T>G (p.Tyr96Ter)	BMPR2 (Y96*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 812799	NM_001204.7(BMPR2):c.314del (p.Pro105fs)	BMPR2 (P105fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812800	NM_001204.7(BMPR2):c.344dup (p.Cys116fs)	BMPR2 (C116fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812801	NM_001204.7(BMPR2):c.346T>C (p.Cys116Arg)	BMPR2 (C116R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812802	NM_001204.7(BMPR2):c.349T>G (p.Cys117Gly)	BMPR2 (C117G)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic
Select item 8808	NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)	BMPR2 (C123R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 425774	NM_001204.7(BMPR2):c.371dup (p.Asn124fs)	BMPR2 (N124fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1 +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 425775	NM_001204.7(BMPR2):c.399del (p.Pro134fs)	BMPR2 (P134fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 425777	NM_001204.7(BMPR2):c.408_412del (p.Pro138fs)	BMPR2 (P138fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 812803	NM_001204.7(BMPR2):c.417_418+2del	BMPR2	Deletion (splice donor variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812804	NM_001204.7(BMPR2):c.418+1G>T	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 425781	NM_001204.7(BMPR2):c.418+5G>A	BMPR2	Single nucleotide variant (intron variant)	Pulmonary arterial hypertension +1 more	GPathogenic/Likely pathogenic
Select item 812945	NM_001204.7(BMPR2):c.419-5439_622-1285del	BMPR2	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 222513	NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)	BMPR2 (R147*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +3 more	GPathogenic
Select item 425792	NM_001204.7(BMPR2):c.449dup (p.Ile151fs)	BMPR2 (I151fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 812805	NM_001204.7(BMPR2):c.470C>G (p.Ser157Ter)	BMPR2 (S157*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 812806	NM_001204.7(BMPR2):c.529+2dup	BMPR2	Duplication (splice donor variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812807	NM_001204.7(BMPR2):c.533_536dup (p.Lys180fs)	BMPR2 (K180fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 425807	NM_001204.7(BMPR2):c.612del (p.Lys204fs)	BMPR2 (K204fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 812808	NM_001204.7(BMPR2):c.619dup (p.Glu207fs)	BMPR2 (E207fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812810	NM_001204.7(BMPR2):c.621+1G>C	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812809	NM_001204.7(BMPR2):c.621+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812946	NM_001204.7(BMPR2):c.621+428_967+3995del	BMPR2	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812811	NM_001204.7(BMPR2):c.622-1G>T	BMPR2	Single nucleotide variant (splice acceptor variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 8812	NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)	BMPR2 (R211*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +3 more	GPathogenic
Select item 280019	NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter)	BMPR2 (R213*)	Single nucleotide variant (nonsense)	Pulmonary venoocclusive disease 1 +2 more	GPathogenic
Select item 812812	NM_001204.7(BMPR2):c.657del (p.Gly220fs)	BMPR2 (G220fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812813	NM_001204.7(BMPR2):c.683del (p.Ala228fs)	BMPR2 (A228fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812814	NM_001204.7(BMPR2):c.687_693del (p.Lys230fs)	BMPR2 (K230fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812815	NM_001204.7(BMPR2):c.691del (p.Val231fs)	BMPR2 (V231fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812816	NM_001204.7(BMPR2):c.761_762del (p.His254fs)	BMPR2 (H254fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812817	NM_001204.7(BMPR2):c.793G>T (p.Glu265Ter)	BMPR2 (E265*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 425826	NM_001204.7(BMPR2):c.796_799del (p.Arg266fs)	BMPR2 (R266fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 812818	NM_001204.7(BMPR2):c.823dup (p.Tyr275fs)	BMPR2 (Y275fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812819	NM_001204.7(BMPR2):c.843C>G (p.Tyr281Ter)	BMPR2 (Y281*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 812820	NM_001204.7(BMPR2):c.846T>A (p.Tyr282Ter)	BMPR2 (Y282*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 812821	NM_001204.7(BMPR2):c.852_852+1insA	BMPR2	Insertion (splice donor variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812947	NM_001204.7(BMPR2):c.852+316_967+2958del	BMPR2	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
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 425837	NM_001204.7(BMPR2):c.860T>A (p.Leu287Ter)	BMPR2 (L287*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 812822	NM_001204.7(BMPR2):c.917A>C (p.His306Pro)	BMPR2 (H306P)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 409826	NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter)	BMPR2 (R321*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 425849	NM_001204.7(BMPR2):c.967+4del	BMPR2	Deletion (intron variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 425854	NM_001204.7(BMPR2):c.968-1G>T	BMPR2	Single nucleotide variant (splice acceptor variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 425860	NM_001204.7(BMPR2):c.992A>G (p.His331Arg)	BMPR2 (H331R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 8810	NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter)	BMPR2 (R332*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 425864	NM_001204.7(BMPR2):c.1019T>C (p.Leu340Pro)	BMPR2 (L340P)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 425865	NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg)	BMPR2 (C347R)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GPathogenic
Select item 812823	NM_001204.7(BMPR2):c.1128+2T>G	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812824	NM_001204.7(BMPR2):c.1133G>T (p.Gly378Val)	BMPR2 (G378V)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812825	NM_001204.7(BMPR2):c.1178A>G (p.Asn393Ser)	BMPR2 (N393S)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 425892	NM_001204.7(BMPR2):c.1202T>C (p.Leu401Ser)	BMPR2 (L401S)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	GPathogenic/Likely pathogenic
Select item 812826	NM_001204.7(BMPR2):c.1217T>G (p.Met406Arg)	BMPR2 (M406R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 425896	NM_001204.7(BMPR2):c.1221T>G (p.Tyr407Ter)	BMPR2 (Y407*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 812827	NM_001204.7(BMPR2):c.1228G>C (p.Gly410Arg)	BMPR2 (G410R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic
Select item 812828	NM_001204.7(BMPR2):c.1242G>A (p.Trp414Ter)	BMPR2 (W414*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 425900	NM_001204.7(BMPR2):c.1245_1246dup (p.Ile416fs)	BMPR2 (I416fs)	Microsatellite (frameshift variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 812829	NM_001204.7(BMPR2):c.1255_1257dup (p.Arg419dup)	BMPR2	Duplication (inframe_insertion)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812951	NM_001204.7(BMPR2):c.1277-421_1414-2475del	BMPR2, LOC129935436	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812952	NM_001204.7(BMPR2):c.1277-305_1414-4736del	BMPR2, LOC129935436	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812830	NM_001204.7(BMPR2):c.1277-2A>G	BMPR2	Single nucleotide variant (splice acceptor variant)	Primary pulmonary hypertension	GPathogenic
Select item 812831	NM_001204.7(BMPR2):c.1355_1356dup (p.Val453fs)	BMPR2 (V453fs)	Microsatellite (frameshift variant)	Pulmonary arterial hypertension	GPathogenic
Select item 425930	NM_001204.7(BMPR2):c.1371dup (p.Gln458fs)	BMPR2 (Q458fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 409813	NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter)	BMPR2 (W466*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +2 more	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 812953	NM_001204.7(BMPR2):c.1413+4638_1586+1016del	BMPR2	Deletion (splice acceptor variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 425943	NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter)	BMPR2 (S475*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 812832	NM_001204.7(BMPR2):c.1432G>T (p.Glu478Ter)	BMPR2 (E478*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 8801	NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly)	BMPR2 (D485G)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 8802	NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)	BMPR2 (R491W)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +2 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 812833	NM_001204.7(BMPR2):c.1490_1507del (p.Ala497_Ala502del)	BMPR2	Deletion (inframe_deletion)	Pulmonary arterial hypertension	GLikely pathogenic

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