ClinVar Miner

List of variants reported as likely pathogenic for Pulmonary arterial hypertension

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser) rs373725296 0.00003
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) rs1555208696 0.00003
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_001204.7(BMPR2):c.853-2A>G rs863223424 0.00001
NC_000002.12:g.202358678_202383339del
NC_000002.12:g.202361678_202391198del
NC_000002.12:g.202373992_202392940del
NC_000002.12:g.202474607_202528266del
NC_000002.12:g.202477526_202557335del
NC_000002.12:g.202522316_202580009del
NC_000002.12:g.202522780_202538692del
NC_000002.12:g.202538406_202550365del
NM_000020.3(ACVRL1):c.1450C>G (p.Arg484Gly) rs121909288
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) rs863223408
NM_000020.3(ACVRL1):c.647T>G (p.Val216Gly) rs1592223392
NM_000020.3(ACVRL1):c.982C>G (p.His328Asp) rs1592224291
NM_001013703.4(EIF2AK4):c.4769del (p.Ser1589_Leu1590insTer) rs756315327
NM_001114753.3(ENG):c.1727_1732del (p.Ser576_Asp578delinsAsn) rs1588573831
NM_001114753.3(ENG):c.1734C>G (p.Asp578Glu) rs374644720
NM_001204.7(BMPR2):c.1133G>T (p.Gly378Val) rs1574494547
NM_001204.7(BMPR2):c.1178A>G (p.Asn393Ser) rs1574494582
NM_001204.7(BMPR2):c.1202T>C (p.Leu401Ser) rs1085307312
NM_001204.7(BMPR2):c.1217T>G (p.Met406Arg) rs1247070046
NM_001204.7(BMPR2):c.1255_1257dup (p.Arg419dup) rs1574494655
NM_001204.7(BMPR2):c.1277-2A>G rs1574499954
NM_001204.7(BMPR2):c.1277-305_1414-4736del
NM_001204.7(BMPR2):c.1277-421_1414-2475del
NM_001204.7(BMPR2):c.1413+4638_1586+1016del
NM_001204.7(BMPR2):c.1490_1507del (p.Ala497_Ala502del) rs1574505321
NM_001204.7(BMPR2):c.1772G>A (p.Arg591Gln) rs371174955
NM_001204.7(BMPR2):c.2004del (p.Asp669fs) rs1574506781
NM_001204.7(BMPR2):c.2336C>G (p.Ser779Ter)
NM_001204.7(BMPR2):c.247+136_418+99del
NM_001204.7(BMPR2):c.247+804_418+3005del
NM_001204.7(BMPR2):c.2542C>T (p.Gln848Ter) rs1574507272
NM_001204.7(BMPR2):c.417_418+2del rs1574464226
NM_001204.7(BMPR2):c.418+1G>T rs1085307226
NM_001204.7(BMPR2):c.418+5G>A rs1085307229
NM_001204.7(BMPR2):c.419-5439_622-1285del
NM_001204.7(BMPR2):c.529+2dup rs1574486038
NM_001204.7(BMPR2):c.617T>A (p.Leu206Ter) rs2106003241
NM_001204.7(BMPR2):c.621+1G>C rs1553508321
NM_001204.7(BMPR2):c.621+428_967+3995del
NM_001204.7(BMPR2):c.622-1G>T rs1574488277
NM_001204.7(BMPR2):c.76+1G>A rs1085307155
NM_001204.7(BMPR2):c.76+2T>G rs1085307156
NM_001204.7(BMPR2):c.76+5G>A rs1085307157
NM_001204.7(BMPR2):c.77-2315_248-646del
NM_001204.7(BMPR2):c.852+316_967+2958del
NM_001204.7(BMPR2):c.853-1G>A rs1085307267
NM_001204.7(BMPR2):c.917A>C (p.His306Pro) rs1574489046
NM_001321120.2(TBX4):c.1001_1004dup (p.His335fs) rs1603255336
NM_001321120.2(TBX4):c.1011_1012delinsTT (p.Lys338Ter) rs1603255339
NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) rs754897911
NM_001321120.2(TBX4):c.1163_1170del (p.Thr388fs) rs1603256095
NM_001321120.2(TBX4):c.121G>T (p.Gly41Ter) rs1397811125
NM_001321120.2(TBX4):c.40_49del (p.Phe14fs) rs1603248167
NM_001321120.2(TBX4):c.885dup (p.Thr296fs) rs1603255267
NM_001321120.2(TBX4):c.972del (p.Thr326fs) rs1603255327
NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys) rs2108829926
NM_001367549.1(ATP13A3):c.2563G>A (p.Val855Met) rs1489314131
NM_002246.3(KCNK3):c.544G>C (p.Glu182Gln) rs398123042
Single allele

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