S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 22

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:203329641
GRCh38:
Chr2:202464918
BMPR2not providedPathogenic
(Apr 24, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr2:203332289
GRCh38:
Chr2:202467566
BMPR2Primary pulmonary hypertension, not providedPathogenic
(Oct 9, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr2:203332371
GRCh38:
Chr2:202467648
BMPR2Primary pulmonary hypertension, not providedPathogenic
(Sep 3, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr2:203378462
GRCh38:
Chr2:202513739
BMPR2Primary pulmonary hypertension, not providedPathogenic
(Aug 31, 2015)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr2:203379622
GRCh38:
Chr2:202514899
BMPR2Primary pulmonary hypertension, not providedPathogenic
(Aug 31, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr2:203383554
GRCh38:
Chr2:202518831
BMPR2Primary pulmonary hypertension, Pulmonary hypertension, primary, dexfenfluramine-associated, not provided
Pathogenic
(Feb 7, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr2:203383560
GRCh38:
Chr2:202518837
BMPR2Primary pulmonary hypertension, not providedPathogenic
(Jun 7, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr2:203383720
GRCh38:
Chr2:202518997
BMPR2Primary pulmonary hypertension, not providedConflicting interpretations of pathogenicity
(Aug 16, 2017)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr2:203383769
GRCh38:
Chr2:202519046
BMPR2not providedPathogenic
(Nov 21, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr2:203384808
GRCh38:
Chr2:202520085
BMPR2Primary pulmonary hypertension, not providedPathogenic
(Jul 11, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr2:203395543
GRCh38:
Chr2:202530820
BMPR2Primary pulmonary hypertension, not providedPathogenic
(May 24, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr2:203395646
GRCh38:
Chr2:202530923
BMPR2Primary pulmonary hypertension, not providedPathogenic
(Sep 1, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr2:203395678
GRCh38:
Chr2:202530955
BMPR2not providedPathogenic
(Sep 15, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr2:203395678
GRCh38:
Chr2:202530955
BMPR2Primary pulmonary hypertension, not providedPathogenic
(Sep 15, 2015)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr2:203417452
GRCh38:
Chr2:202552729
BMPR2not specifiedUncertain significance
(Jun 20, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr2:203417484
GRCh38:
Chr2:202552761
BMPR2not providedLikely pathogenic
(Jun 30, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr2:203417496
GRCh38:
Chr2:202552773
BMPR2Primary pulmonary hypertension, not providedPathogenic
(Jul 11, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr2:203420177
GRCh38:
Chr2:202555454
BMPR2Primary pulmonary hypertension, not providedPathogenic
(Jun 15, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr2:203420712
GRCh38:
Chr2:202555989
BMPR2Primary pulmonary hypertension, not specifiedBenign/Likely benign
(Jan 5, 2017)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr2:203421199
GRCh38:
Chr2:202556476
BMPR2Primary pulmonary hypertension, not specifiedBenign
(Dec 4, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr2:200811217-210849919
GRCh38:
Chr2:199946494-209985195
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
22.
GRCh37:
Chr2:191175462-242834921
GRCh38:
Chr2:190310736-241892770
AAMP, ACADL, AGXT, ALPI, ALPP, ALPPL2, AOX1, ATIC, KIF1A, BARD1, BCS1L, BMPR2, BOK, CASP8, CASP10, CD28, CHRND, CHRNG, CLK1, COL4A3, COL4A4, COL6A3, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP27A1, DES, DTYMK, EEF1B2, EPHA4, ERBB4, ACSL3, FN1, GBX2, GLS, GPC1, GPR1, GPR35, HDLBP, AGFG1, DNAJB2, HSPD1, HSPE1, HTR2B, IDH1, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP1, INPP5D, IRS1, KCNJ13, MAP2, MYO1B, MYL1, NAB1, NCL, NDUFA10, NDUFB3, NDUFS1, SEPT2, NEU2, NPPC, ORC2, PAX3, PDCD1, PDE6D, SERPINE2, PLCL1, PPP1R7, PSMD1, PTH2R, PTMA, PTPRN, SNORD20, RPE, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, STAT1, STAT4, TNP1, TNS1, TUBA4A, SUMO1, UGT1A, VIL1, WNT6, XRCC5, ZNF142, FZD5, SCG2, FZD7, CAVIN2, CUL3, DGKD, STK16, KLF7, ADAM23, NRP2, CFLAR, PER2, CDK5R2, CNOT9, LRRFIP1, STK17B, GPR55, TRIP12, GTF3C3, ECEL1, EIF4E2, TTLL4, BZW1, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, ABI2, RAMP1, SPEG, LANCL1, NMUR1, STK25, COPS8, CAPN10, SP140, IKZF2, FASTKD2, PASK, ATG4B, SATB2, OBSL1, SF3B1, DNPEP, TMEFF2, SH3BP4, KCNE4, NGEF, SNORD82, MOB4, PNKD, SNED1, SPATS2L, GIGYF2, TRAF3IP1, ABCA12, HIBCH, SNORD51, CNPPD1, STK36, CPS1-IT1, ICOS, GMPPA, SMARCAL1, ANO7, PRLH, THAP4, ANKMY1, SCLY, NOP58, ASB1, CAB39, PRKAG3, PPIL3, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, MFSD6, INO80D, PID1, ATG16L1, ANKZF1, USP40, HJURP, STRADB, HES6, ASIC4, DOCK10, MREG, WDR12, PECR, DNAH7, C2orf83, MFF, ACKR3, RNPEPL1, SLC39A10, CYP20A1, HECW2, MARCH4, WDFY1, NYAP2, ALS2, ZDBF2, USP37, CTDSP1, MPP4, NIF3L1, PCGEM1, GAL3ST2, TMBIM1, RAB17, RNF25, COPS7B, NABP1, RAPH1, CDK15, TMEM237, NBEAL1, CFLAR-AS1, MRPL44, TRAK2, BOLL, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, MAIP1, SPAG16, CHPF, IQCA1, CARF, NHEJ1, FAM124B, TM4SF20, C2orf54, PGAP1, TUBA4B, ARMC9, COQ10B, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, RHBDD1, ING5, PLCD4, MGC16025, ANKRD44, TMEM169, DNER, MARS2, B3GNT7, SP140L, LOC93463, STK11IP, MOGAT1, AGAP1, TWIST2, PARD3B, TYW5, DIS3L2, NEU4, ICA1L, RFTN2, AP1S3, SGPP2, KCTD18, ALS2CR12, SPATA3, TMEM198, ZFAND2B, CPO, MDH1B, FBXO36, MTERF4, UBE2F, SATB2-AS1, OTOS, COPS9, OR6B3, FAM117B, LOC150935, LINC01963, KANSL1L, LINC01107, LOC151174, ERFE, METTL21A, CCNYL1, SGO2, C2CD6, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, PIKFYVE, FAM237A, TIGD1, LOC200772, C2orf69, CFAP65, C2orf72, CCDC150, RTP5, FAM126B, UNC80, RUFY4, LOC285191, DUSP28, MROH2A, ESPNL, FTCDNL1, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, DYTN, C2orf66, ASB18, LINC01940, VWC2L, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, SNORA41, PRR21, LINC00607, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, SNORD11, SNORD70, MIR562, D2HGDH, CROCC2, LOC729224, DIRC3, LOC729968, SNORD11B, LOC100128563, LOC100129175, PP14571, LOC100130451, LOC100130452, NEMP2, TRY-ATA1-1, MIR1471, MIR1302-4, MIR1244-1, MIR548F2, BOK-AS1, MIR3133, MIR3131, MIR4268, MIR3130-1, MIR3130-2, MIR2355, MIR3132, MIR4269, AGAP1-IT1, LINC01792, LOC100507443, IDH1-AS1, HSPE1-MOB4, UBE2F-SCLY, MIR4439, MIR4776-1, MIR4777, MIR2467, MIR4775, MIR4438, MIR4440, MIR4786, MIR4776-2, MIR4441, KIAA2012, MIR5001, MIR5702, MIR5703, RNU6-31P, VWC2L-IT1, LOC100996693, GPR1-AS, CAPN10-AS1, LINC01237, LINC01821, LINC01790, LOC101927482, ANKRD44-IT1, LOC101927596, LINC01923, LINC01877, LOC101927795, LOC101927865, LOC101927960, LOC101928020, LOC101928103, LOC101928111, LINC01280, LINC01921, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6809, MIR6811, MIR7845, MIR6810, LINC01857, LANCL1-AS1, LOC102724849, LINC01878, MIR9500, CATIP-AS2, LOC105373805, LINC01827, LINC01802, MYOSLID, LINC01953, LINC01614, LOC105373876, DIRC3-AS1, LOC105373878, LINC01803, LINC01891, LINC01937, LOC105747689, LINC01173, SNORA105B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center