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Items: 1 to 100 of 1013

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:175763576-204806271
GRCh38:
Chr2:174898848-203941548
ABI2, AGPS, ALS2, ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, AOX1, ASDURF, ASNSD1, ATF2, ATP5MC3, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf88, CALCRL, CALCRL-AS1, CARF, CASP10, CASP8, CAVIN2, CAVIN2-AS1, CCDC141, CCDC150, CD28, CDK15, CERKL, CFLAR, CFLAR-AS1, CHN1, CHROMR, CLK1, COL3A1, COL5A2, COQ10B, CTLA4, CWC22, CYP20A1, DIRC1, DNAH7, DNAJC10, DUSP19, EPCART, EVX2, FAM117B, FAM171B, FKBP7, FLACC1, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, FTCDNL1, FZD7, GLS, GTF3C3, GULP1, HAGLR, HAGLROS, HECW2, HECW2-AS1, HIBCH, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HSPD1, HSPE1, HSPE1-MOB4, HYCC2, ICA1L, ICOS, IFT70A, IFT70B, INPP1, ITGA4, ITGAV, ITPRID2, KCTD18, KIAA2012, KIAA2012-AS1, LINC01090, LINC01116, LINC01117, LINC01473, LINC01790, LINC01792, LINC01821, LINC01827, LINC01877, LINC01923, LINC01934, LNPK, LOC100130452, LOC100130691, LOC101927055, LOC105373759, LOC105373780, LOC105373782, LOC107126359, LOC108281145, LOC108281167, LOC108353821, LOC110120627, LOC110120628, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC115945202, LOC115947632, LOC120977016, LOC120977017, LOC120977018, LOC120977019, LOC121725108, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC124906109, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC126806473, LOC128772255, LOC128772256, LOC401021, LOC729254, MAIP1, MARS2, MFSD6, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3129, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MIR7704, MIR933, MOB4, MPP4, MSTN, MTX2, MYO1B, NAB1, NABP1, NABP1-OT1, NBEAL1, NCKAP1, NDUFB3, NEMP2, NEMP2-DT, NEUROD1, NFE2L2, NIF3L1, NOP58, NUP35, ORC2, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE11A-AS1, PDE1A, PGAP1, PJVK, PLCL1, PLEKHA3, PMS1, PPIL3, PPP1R1C, PRKRA, RAPH1, RBM45, RFTN2, SATB2, SATB2-AS1, SCHLAP1, SESTD1, SF3B1, SGO2, SLC39A10, SLC40A1, SNORA105B, SNORD11, SNORD11B, SNORD70, SNORD70B, SPATS2L, STAT1, STAT4, STAT4-AS1, STK17B, STRADB, SUMO1, TFPI, TMEFF2, TMEM237, TRAK2, TTN, TTN-AS1, TYW5, UBE2E3, UBE2E3-DT, WDR12, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr2:181378520-225167565
GRCh38:
Chr2:180513793-224302848
MOGAT1, MPP4, MREG, MRPL44, MSTN, MYL1, MYO1B, MYOSLID, MYOSLID-AS1, NAB1, NABP1, NABP1-OT1, NBEAL1, NCKAP1, NDUFB3, NDUFS1, NEMP2, NEMP2-DT, NEUROD1, NHEJ1, NIF3L1, NOP58, NRP2, NUP35, OBSL1, ORC2, ORMDL1, OSGEPL1, OSGEPL1-AS1, PARD3B, PAX3, PCGEM1, PDE1A, PECR, PGAP1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PMS1, PNKD, PPIL3, PPP1R1C, PRKAG3, PTH2R, PTPRN, RAPH1, RESP18, RETREG2, RFTN2, RNF25, RPE, RPL37A, RPL37A-DT, RUFY4, SATB2, SATB2-AS1, SCG2, SCHLAP1, SERPINE2, SF3B1, SGO2, SGPP2, SLC11A1, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORD11, SNORD11B, SNORD51, SNORD70, SNORD70B, SPAG16, SPAG16-DT, SPATS2L, SPEG, SPEGNB, STAT1, STAT4, STAT4-AS1, STK11IP, STK16, STK17B, STK36, STRADB, SUMO1, TESHL, TFPI, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNS1, TNS1-AS1, TRAK2, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TYW5, UBE2E3, UBE2E3-DT, UNC80, USP37, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZC3H15, ZDBF2, ZFAND2B, ZNF142, ZNF804A, ZSWIM2, AAMP, ABCA12, ABCB6, ABI2, ACADL, ACSL3, ACSL3-AS1, ADAM23, ALS2, ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ANKZF1, AOX1, AP1S3, ARPC2, ASDURF, ASIC4, ASIC4-AS1, ASNSD1, ATG9A, ATIC, BARD1, BCS1L, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf80, C2orf88, CALCRL, CALCRL-AS1, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CAVIN2, CAVIN2-AS1, CCDC140, CCDC150, CCNYL1, CD28, CDK15, CDK5R2, CERKL, CFAP65, CFLAR, CFLAR-AS1, CHPF, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL3A1, COL5A2, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CXCR1, CXCR2, CYP20A1, CYP27A1, DES, DES-LCR, DIRC1, DIRC3, DIRC3-AS1, DNAH7, DNAJB2, DNAJC10, DNPEP, DNPEP-AS1, DUSP19, DYTN, EEF1B2, EPHA4, ERBB4, FAM117B, FAM171B, FAM237A, FARSB, FASTKD2, FEV, FLACC1, FN1, FN1-DT, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, FTCDNL1, FZD5, FZD7, GLB1L, GLS, GMPPA, GPBAR1, GTF3C3, GULP1, HECW2, HECW2-AS1, HIBCH, HSPD1, HSPE1, HSPE1-MOB4, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, INHA, INO80D, INPP1, ITGA4, ITGAV, ITPRID2, KANSL1L, KANSL1L-AS1, KCNE4, KCTD18, KIAA2012, KIAA2012-AS1, KLF7, LANCL1, LANCL1-AS1, LINC00607, LINC00608, LINC01090, LINC01280, LINC01473, LINC01494, LINC01614, LINC01790, LINC01792, LINC01802, LINC01803, LINC01821, LINC01827, LINC01857, LINC01877, LINC01878, LINC01923, LINC01934, LINC01953, LINC01963, LINC02832, LINC02862, LOC100129175, LOC100130452, LOC100507443, LOC101927960, LOC102724849, LOC105373780, LOC105373782, LOC105373876, LOC107980445, LOC108178994, LOC108254675, LOC108281145, LOC108281167, LOC108353821, LOC110121128, LOC110121148, LOC110121169, LOC110121204, LOC110121267, LOC111413021, LOC111501760, LOC111828511, LOC111828512, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC114004367, LOC114004368, LOC115945202, LOC115947632, LOC115947633, LOC120977017, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121725108, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC122319436, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC124906109, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC126806473, LOC126806474, LOC126806475, LOC126806476, LOC126806477, LOC126806478, LOC126806479, LOC126806480, LOC126806481, LOC126806482, LOC126806483, LOC126806484, LOC126806485, LOC126806486, LOC126806487, LOC126806488, LOC126806489, LOC126806490, LOC126806491, LOC126806492, LOC126806493, LOC126806494, LOC126806495, LOC126806496, LOC126806497, LOC126806498, LOC126806499, LOC126806500, LOC126806501, LOC126806502, LOC126806503, LOC126806504, LOC126806505, LOC126806506, LOC126806507, LOC126806508, LOC126806509, LOC126806510, LOC126806511, LOC126806512, LOC126806513, LOC126806514, LOC126806515, LOC126806516, LOC126806517, LOC126806518, LOC126806519, LOC126806520, LOC126806521, LOC126806522, LOC126806523, LOC126806524, LOC126806525, LOC126806526, LOC126806527, LOC126806528, LOC126806529, LOC126806530, LOC126806531, LOC126806532, LOC126806533, LOC126806534, LOC128772255, LOC128772256, LOC729254, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFSD6, MIR1245A, MIR1245B, MIR1302-4, MIR153-1, MIR2355, MIR26B, MIR3129, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3606, MIR375, MIR4268, MIR4437, MIR4438, MIR4775, MIR4776-1, MIR4776-2, MIR548AE1, MIR548F2, MIR561, MIR6513, MIR6809, MIR6810, MIR7845, MIR9500, MOB4
See casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
3.
GRCh37:
Chr2:189682921-243007359
GRCh38:
Chr2:188818195-242065208
AAMP, ABCA12, ABCB6, ABI2, ACADL, ACKR3, ACSL3, ACSL3-AS1, ADAM23, AGAP1, AGAP1-IT1, AGFG1, AGXT, ALPG, ALPI, ALPP, ALS2, ANKAR, ANKMY1, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ANKZF1, ANO7, AOX1, AP1S3, AQP12A, AQP12B, ARL4C, ARMC9, ARPC2, ASB1, ASB18, ASDURF, ASIC4, ASIC4-AS1, ASNSD1, ATG16L1, ATG4B, ATG9A, ATIC, B3GNT7, BOLL, BARD1, BCS1L, BMPR2, BOK, BOK-AS1, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf72, C2orf80, C2orf83, C2orf88, CAB39, CAPN10, CAPN10-DT, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CAVIN2, CAVIN2-AS1, CCDC140, CCDC150, CCDC195, CCL20, CCNYL1, CD28, CDK15, CDK5R2, CFAP65, CFLAR, CFLAR-AS1, CHPF, CHRND, CHRNG, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COPS7B, COPS8, COPS9, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CROCC2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CUL3, CXCR1, CXCR2, CYP20A1, CYP27A1, D2HGDH, DAW1, DES, DES-LCR, DGKD, DIRC3, DIRC3-AS1, DIS3L2, DNAH7, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DTYMK, DUSP28, DYTN, ECEL1, EEF1B2, EFHD1, EIF4E2, EPHA4, ERBB4, ERFE, ESPNL, FAM117B, FAM124B, FAM237A, FAM240C, FARP2, FARSB, FASTKD2, FBXO36, FEV, FLACC1, FN1, FN1-DT, FTCDNL1, FZD5, FZD7, GAL3ST2, GBX2, GCSIR, GIGYF2, GLB1L, GLS, GMPPA, GPBAR1, GPC1, GPC1-AS1, GPR35, GPR55, GTF3C3, HDAC4, HDAC4-AS1, HDLBP, HDLBP-AS1, HECW2, HECW2-AS1, HES6, HIBCH, HJURP, HSPD1, HSPE1, HSPE1-MOB4, HTR2B, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, ILKAP, ING5, INHA, INO80D, INPP1, INPP5D, IQCA1, IQCA1-AS1, IRS1, ITM2C, KANSL1L, KANSL1L-AS1, KCNE4, KCNJ13, KCTD18, KIAA2012, KIAA2012-AS1, KIF1A, KLF7, KLHL30, LANCL1, LANCL1-AS1, LINC00471, LINC00607, LINC00608, LINC01107, LINC01173, LINC01237, LINC01238, LINC01280, LINC01494, LINC01614, LINC01790, LINC01792, LINC01802, LINC01803, LINC01807, LINC01821, LINC01827, LINC01857, LINC01877, LINC01878, LINC01880, LINC01891, LINC01907, LINC01923, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LINC02862, LINC02991, LOC100128563, LOC100129175, LOC100130452, LOC100287387, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC105373876, LOC106783501, LOC107980445, LOC108178994, LOC108254675, LOC108281167, LOC108348027, LOC108353814, LOC108353815, LOC108353821, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121148, LOC110121169, LOC110121201, LOC110121204, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110121267, LOC110599582, LOC111413021, LOC111501760, LOC111501790, LOC111828511, LOC111828512, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC112840904, LOC112840905, LOC112840906, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC114004367, LOC114004368, LOC114004369, LOC115945202, LOC115947632, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC115947637, LOC115947638, LOC115947639, LOC115947640, LOC120977017, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121009633, LOC121009634, LOC121009635, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC121725125, LOC121725126, LOC122319436, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC122861302, LOC122861303, LOC122861304, LOC122861305, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC122861311, LOC122861312, LOC122861313, LOC122861314, LOC122861315, LOC122861316, LOC122861317, LOC122861318, LOC122861319, LOC122861320, LOC122889004, LOC122889005, LOC122889006, LOC122889007, LOC122889008, LOC122889009, LOC122889010, LOC122889011, LOC122889012, LOC122889013, LOC122889014, LOC122889015, LOC122889016, LOC124906109, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC126806473, LOC126806474, LOC126806475, LOC126806476, LOC126806477, LOC126806478, LOC126806479, LOC126806480, LOC126806481, LOC126806482, LOC126806483, LOC126806484, LOC126806485, LOC126806486, LOC126806487, LOC126806488, LOC126806489, LOC126806490, LOC126806491, LOC126806492, LOC126806493, LOC126806494, LOC126806495, LOC126806496, LOC126806497, LOC126806498, LOC126806499, LOC126806500, LOC126806501, LOC126806502, LOC126806503, LOC126806504, LOC126806505, LOC126806506, LOC126806507, LOC126806508, LOC126806509, LOC126806510, LOC126806511, LOC126806512, LOC126806513, LOC126806514, LOC126806515, LOC126806516, LOC126806517, LOC126806518, LOC126806519, LOC126806520, LOC126806521, LOC126806522, LOC126806523, LOC126806524, LOC126806525, LOC126806526, LOC126806527, LOC126806528, LOC126806529, LOC126806530, LOC126806531, LOC126806532, LOC126806533, LOC126806534, LOC126806535, LOC126806536, LOC126806537, LOC126806538, LOC126806539, LOC126806540, LOC126806541, LOC126806542, LOC126806543, LOC126806544, LOC126806545, LOC126806546, LOC126806547, LOC126806548, LOC126806549, LOC126806550, LOC126806551, LOC126806552, LOC126806553, LOC126806554, LOC126806555, LOC126806556, LOC126806557, LOC126806558, LOC126806559, LOC126806560, LOC126806561, LOC126806562, LOC126806563, LOC126806564, LOC126806565, LOC126806566, LOC126806567, LOC126806568, LOC126806569, LOC126806570, LOC126806571, LOC126806572, LOC126806573, LOC126806574, LOC126806575, LOC126806576, LOC126806577, LOC126806578, LOC126806579, LOC126806580, LOC126806581, LOC126806582, LOC126806583, LOC126806584, LOC128772255, LOC128772256, LOC150935, LOC285097, LOC285191, LOC646736, LOC729254, LOC729968, LOC93463, LRRFIP1, MAB21L4, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFF, MFF-DT, MFSD6, MGC16025, MIR1244-1, MIR1245A, MIR1245B, MIR1302-4, MIR1471, MIR149, MIR153-1, MIR2355, MIR2467, MIR26B, MIR3129, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3133, MIR3606, MIR375, MIR4268, MIR4269, MIR4438, MIR4439, MIR4440, MIR4441, MIR4775, MIR4776-1, MIR4776-2, MIR4777, MIR4786, MIR5001, MIR548F2, MIR562, MIR5702, MIR5703, MIR6513, MIR6809, MIR6810, MIR6811, MIR7845, MIR9500, MLPH, MOB4, MOGAT1, MPP4, MREG, MROH2A, MRPL44, MSTN, MTERF4, MYL1, MYO1B, MYOSLID, MYOSLID-AS1, NAB1, NABP1, NABP1-OT1, NBEAL1, NCL, NDUFA10, NDUFB3, NDUFS1, NEMP2, NEMP2-DT, NEU2, NEU4, NGEF, NHEJ1, NIF3L1, NMUR1, NOP58, NPPC, NRP2, NYAP2, OBSL1, OR6B2, OR6B3, ORC2, ORMDL1, OSGEPL1, OSGEPL1-AS1, OTOS, PARD3B, PASK, PAX3, PCGEM1, PDCD1, PDE6D, PECR, PER2, PGAP1, PID1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PMS1, PNKD, PPIL3, PPP1R7, PRKAG3, PRLH, PRR21, PRSS56, PSMD1, PTH2R, PTMA, PTPRN, RAB17, RAB17-DT, RAMP1, RAPH1, RBM44, RESP18, RETREG2, RFTN2, RHBDD1, RNF25, RNPEPL1, RPE, RPL37A, RPL37A-DT, RTP5, RUFY4, SAG, SATB2, SATB2-AS1, SCARNA5, SCARNA6, SCG2, SCLY, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SEPTIN2, SERPINE2, SF3B1, SGO2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SNED1, SNED1-AS1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORA75, SNORC, SNORD11, SNORD11B, SNORD20, SNORD51, SNORD70, SNORD70B, SNORD82, SP100, SP110, SP140, SP140L, SPAG16, SPAG16-DT, SPATA3, SPATA3-AS1, SPATS2L, SPEG, SPEGNB, SPHKAP, SPP2, STAT1, STAT4, STAT4-AS1, STK11IP, STK16, STK17B, STK25, STK36, STRADB, SUMO1, TESHL, TEX44, THAP4, TIGD1, TM4SF20, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNRC17, TNS1, TNS1-AS1, TRAF3IP1, TRAK2, TRIP12, TRPM8, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TWIST2, TYW5, UBE2F, UBE2F-SCLY, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UICLM, UNC80, USP37, USP40, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZDBF2, ZFAND2B, ZNF142
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr2:190300875-242783384
GRCh38:
Chr2:189436149-241841232
MIR4777, MIR4786, MIR5001, MIR548F2, MIR562, MIR5702, MIR5703, MIR6513, MIR6809, MIR6810, MIR6811, MIR7845, MIR9500, MLPH, MOB4, MOGAT1, MPP4, MREG, MROH2A, MRPL44, MSTN, MTERF4, MYL1, MYO1B, MYOSLID, MYOSLID-AS1, NAB1, NABP1, NABP1-OT1, NBEAL1, NCL, NDUFA10, NDUFB3, NDUFS1, NEMP2, NEMP2-DT, NEU2, NEU4, NGEF, NHEJ1, NIF3L1, NMUR1, NOP58, NPPC, NRP2, NYAP2, OBSL1, OR6B2, OR6B3, ORC2, ORMDL1, OSGEPL1, OSGEPL1-AS1, OTOS, PARD3B, PASK, PAX3, PCGEM1, PDE6D, PECR, PER2, PGAP1, PID1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PMS1, PNKD, PPIL3, PPP1R7, PRKAG3, PRLH, PRR21, PRSS56, PSMD1, PTH2R, PTMA, PTPRN, RAB17, RAB17-DT, RAMP1, RAPH1, RBM44, RESP18, RETREG2, RFTN2, RHBDD1, RNF25, RNPEPL1, RPE, RPL37A, RPL37A-DT, RUFY4, SAG, SATB2, SATB2-AS1, SCARNA5, SCARNA6, SCG2, SCLY, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SEPTIN2, SERPINE2, SF3B1, SGO2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SNED1, SNED1-AS1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORA75, SNORC, SNORD11, SNORD11B, SNORD20, SNORD51, SNORD70, SNORD70B, SNORD82, SP100, SP110, SP140, SP140L, SPAG16, SPAG16-DT, SPATA3, SPATA3-AS1, SPATS2L, SPEG, SPEGNB, SPHKAP, SPP2, STAT1, STAT4, STAT4-AS1, STK11IP, STK16, STK17B, STK25, STK36, STRADB, SUMO1, TESHL, TEX44, THAP4, TIGD1, TM4SF20, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNRC17, TNS1, TNS1-AS1, TRAF3IP1, TRAK2, TRIP12, TRPM8, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TWIST2, TYW5, UBE2F, UBE2F-SCLY, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UICLM, UNC80, USP37, USP40, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZDBF2, ZFAND2B, ZNF142, COL4A4, COL5A2, COL6A3, COPS7B, COPS8, COPS9, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CROCC2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CUL3, CXCR1, CXCR2, CYP20A1, CYP27A1, D2HGDH, DAW1, DES, DES-LCR, DGKD, DIRC3, DIRC3-AS1, DIS3L2, DNAH7, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DTYMK, DUSP28, DYTN, ECEL1, EEF1B2, EFHD1, EIF4E2, EPHA4, ERBB4, ERFE, ESPNL, FAM117B, FAM124B, FAM237A, FARP2, FARSB, FASTKD2, FBXO36, FEV, FLACC1, FN1, FN1-DT, FTCDNL1, FZD5, FZD7, GAL3ST2, GBX2, GCSIR, GIGYF2, GLB1L, GLS, GMPPA, GPBAR1, GPC1, GPC1-AS1, GPR35, GPR55, GTF3C3, HDAC4, HDAC4-AS1, HDLBP, HDLBP-AS1, HECW2, HECW2-AS1, HES6, HIBCH, HJURP, HSPD1, HSPE1, HSPE1-MOB4, HTR2B, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, ILKAP, ING5, INHA, INO80D, INPP1, INPP5D, IQCA1, IQCA1-AS1, IRS1, ITM2C, KANSL1L, KANSL1L-AS1, KCNE4, KCNJ13, KCTD18, KIAA2012, KIAA2012-AS1, KIF1A, KLF7, KLHL30, LANCL1, LANCL1-AS1, LINC00471, LINC00607, LINC00608, LINC01107, LINC01173, LINC01280, LINC01494, LINC01614, LINC01790, LINC01792, LINC01802, LINC01803, LINC01807, LINC01821, LINC01827, LINC01857, LINC01877, LINC01878, LINC01891, LINC01907, LINC01923, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LINC02862, LINC02991, LOC100128563, LOC100129175, LOC100130452, LOC100287387, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC105373876, LOC106783501, LOC107980445, LOC108178994, LOC108254675, LOC108281167, LOC108348027, LOC108353814, LOC108353815, LOC108353821, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121148, LOC110121169, LOC110121201, LOC110121204, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110121267, LOC110599582, LOC111413021, LOC111501760, LOC111501790, LOC111828511, LOC111828512, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC112840904, LOC112840905, LOC112840906, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC114004367, LOC114004368, LOC114004369, LOC115945202, LOC115947632, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC115947637, LOC115947638, LOC115947639, LOC115947640, LOC120977017, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121009633, LOC121009634, LOC121009635, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC121725125, LOC121725126, LOC122319436, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC122861302, LOC122861303, LOC122861304, LOC122861305, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC122861311, LOC122861312, LOC122861313, LOC122861314, LOC122861315, LOC122861316, LOC122861317, LOC122861318, LOC122861319, LOC122861320, LOC122889004, LOC122889005, LOC122889006, LOC122889007, LOC122889008, LOC122889009, LOC122889010, LOC122889011, LOC122889012, LOC122889013, LOC122889014, LOC124906109, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC126806473, LOC126806474, LOC126806475, LOC126806476, LOC126806477, LOC126806478, LOC126806479, LOC126806480, LOC126806481, LOC126806482, LOC126806483, LOC126806484, LOC126806485, LOC126806486, LOC126806487, LOC126806488, LOC126806489, LOC126806490, LOC126806491, LOC126806492, LOC126806493, LOC126806494, LOC126806495, LOC126806496, LOC126806497, LOC126806498, LOC126806499, LOC126806500, LOC126806501, LOC126806502, LOC126806503, LOC126806504, LOC126806505, LOC126806506, LOC126806507, LOC126806508, LOC126806509, LOC126806510, LOC126806511, LOC126806512, LOC126806513, LOC126806514, LOC126806515, LOC126806516, LOC126806517, LOC126806518, LOC126806519, LOC126806520, LOC126806521, LOC126806522, LOC126806523, LOC126806524, LOC126806525, LOC126806526, LOC126806527, LOC126806528, LOC126806529, LOC126806530, LOC126806531, LOC126806532, LOC126806533, LOC126806534, LOC126806535, LOC126806536, LOC126806537, LOC126806538, LOC126806539, LOC126806540, LOC126806541, LOC126806542, LOC126806543, LOC126806544, LOC126806545, LOC126806546, LOC126806547, LOC126806548, LOC126806549, LOC126806550, LOC126806551, LOC126806552, LOC126806553, LOC126806554, LOC126806555, LOC126806556, LOC126806557, LOC126806558, LOC126806559, LOC126806560, LOC126806561, LOC126806562, LOC126806563, LOC126806564, LOC126806565, LOC126806566, LOC126806567, LOC126806568, LOC126806569, LOC126806570, LOC126806571, LOC126806572, LOC126806573, LOC126806574, LOC126806575, LOC126806576, LOC126806577, LOC126806578, LOC126806579, LOC126806580, LOC126806581, LOC126806582, LOC126806583, LOC126806584, LOC128772255, LOC128772256, LOC150935, LOC285191, LOC646736, LOC729254, LOC729968, LOC93463, LRRFIP1, MAB21L4, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFF, MFF-DT, MFSD6, MGC16025, MIR1244-1, MIR1302-4, MIR1471, MIR149, MIR153-1, MIR2355, MIR2467, MIR26B, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3133, MIR375, MIR4268, MIR4269, MIR4438, MIR4439, MIR4440, MIR4441, MIR4775, MIR4776-1, MIR4776-2, AAMP, ABCA12, ABCB6, ABI2, ACADL, ACKR3, ACSL3, ACSL3-AS1, ADAM23, AGAP1, AGAP1-IT1, AGFG1, AGXT, ALPG, ALPI, ALPP, ALS2, ANKAR, ANKMY1, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ANKZF1, ANO7, AOX1, AP1S3, AQP12A, AQP12B, ARL4C, ARMC9, ARPC2, ASB1, ASB18, ASDURF, ASIC4, ASIC4-AS1, ASNSD1, ATG16L1, ATG4B, ATG9A, ATIC, B3GNT7, BARD1, BCS1L, BMPR2, BOK, BOK-AS1, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf72, C2orf80, C2orf83, C2orf88, CAB39, CAPN10, CAPN10-DT, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CAVIN2, CAVIN2-AS1, CCDC140, CCDC150, CCDC195, CCL20, CCNYL1, CD28, CDK15, CDK5R2, CFAP65, CFLAR, CFLAR-AS1, CHPF, CHRND, CHRNG, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL4A3
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
5.
GRCh37:
Chr2:191175462-242834921
GRCh38:
Chr2:190310736-241892770
LOC126806505, LOC126806506, LOC126806507, LOC126806508, LOC126806509, LOC126806510, LOC126806511, LOC126806512, LOC126806513, LOC126806514, LOC126806515, LOC126806516, LOC126806517, LOC126806518, LOC126806519, LOC126806520, LOC126806521, LOC126806522, LOC126806523, LOC126806524, LOC126806525, LOC126806526, LOC126806527, LOC126806528, LOC126806529, LOC126806530, LOC126806531, LOC126806532, LOC126806533, LOC126806534, LOC126806535, LOC126806536, LOC126806537, LOC126806538, LOC126806539, LOC126806540, LOC126806541, LOC126806542, LOC126806543, LOC126806544, LOC126806545, LOC126806546, LOC126806547, LOC126806548, LOC126806549, LOC126806550, LOC126806551, LOC126806552, LOC126806553, LOC126806554, LOC126806555, LOC126806556, LOC126806557, LOC126806558, LOC126806559, LOC126806560, LOC126806561, LOC126806562, LOC126806563, LOC126806564, LOC126806565, LOC126806566, LOC126806567, LOC126806568, LOC126806569, LOC126806570, LOC126806571, LOC126806572, LOC126806573, LOC126806574, LOC126806575, LOC126806576, LOC126806577, LOC126806578, LOC126806579, LOC126806580, LOC126806581, LOC126806582, LOC126806583, LOC126806584, LOC128772255, LOC128772256, LOC150935, LOC285191, LOC646736, LOC729254, LOC729968, LOC93463, LRRFIP1, MAB21L4, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFF, MFF-DT, MFSD6, MGC16025, MIR1244-1, MIR1302-4, MIR1471, MIR149, MIR153-1, MIR2355, MIR2467, MIR26B, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3133, MIR375, MIR4268, MIR4269, MIR4438, MIR4439, MIR4440, MIR4441, MIR4775, MIR4776-1, MIR4776-2, MIR4777, MIR4786, MIR5001, MIR548F2, MIR562, MIR5702, MIR5703, MIR6513, MIR6809, MIR6810, MIR6811, MIR7845, MIR9500, MLPH, MOB4, MOGAT1, MPP4, MREG, MROH2A, MRPL44, MTERF4, MYL1, MYO1B, MYOSLID, MYOSLID-AS1, NAB1, NABP1, NABP1-OT1, NBEAL1, NCL, NDUFA10, NDUFB3, NDUFS1, NEMP2, NEMP2-DT, NEU2, NEU4, NGEF, NHEJ1, NIF3L1, NMUR1, NOP58, NPPC, NRP2, NYAP2, OBSL1, OR6B2, OR6B3, ORC2, OTOS, PARD3B, PASK, PAX3, PCGEM1, PDCD1, PDE6D, PECR, PER2, PGAP1, PID1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PNKD, PPIL3, PPP1R7, PRKAG3, PRLH, PRR21, PRSS56, PSMD1, PTH2R, PTMA, PTPRN, RAB17, RAB17-DT, RAMP1, RAPH1, RBM44, RESP18, RETREG2, RFTN2, RHBDD1, RNF25, RNPEPL1, RPE, RPL37A, RPL37A-DT, RTP5, RUFY4, SAG, SATB2, SATB2-AS1, SCARNA5, SCARNA6, SCG2, SCLY, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SEPTIN2, SERPINE2, SF3B1, SGO2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC39A10, SLC4A3, SMARCAL1, SNED1, SNED1-AS1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORA75, SNORC, SNORD11, SNORD11B, SNORD20, SNORD51, SNORD70, SNORD70B, SNORD82, SP100, SP110, SP140, SP140L, SPAG16, SPAG16-DT, SPATA3, SPATA3-AS1, SPATS2L, SPEG, SPEGNB, SPHKAP, SPP2, STAT1, STAT4, STAT4-AS1, STK11IP, STK16, STK17B, STK25, STK36, STRADB, SUMO1, TESHL, TEX44, THAP4, TIGD1, TM4SF20, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNRC17, TNS1, TNS1-AS1, TRAF3IP1, TRAK2, TRIP12, TRPM8, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TWIST2, TYW5, UBE2F, UBE2F-SCLY, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UICLM, UNC80, USP37, USP40, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WNT10A, WNT6, XRCC5, ZDBF2, ZFAND2B, ZNF142, AAMP, ABCA12, ABCB6, ABI2, ACADL, ACKR3, ACSL3, ACSL3-AS1, ADAM23, AGAP1, AGAP1-IT1, AGFG1, AGXT, ALPG, ALPI, ALPP, ALS2, ANKMY1, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ANKZF1, ANO7, AOX1, AP1S3, AQP12A, AQP12B, ARL4C, ARMC9, ARPC2, ASB1, ASB18, ASIC4, ASIC4-AS1, ATG16L1, ATG4B, ATG9A, ATIC, B3GNT7, BARD1, BCS1L, BMPR2, BOK, BOK-AS1, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf72, C2orf80, C2orf83, CAB39, CAPN10, CAPN10-DT, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CAVIN2, CAVIN2-AS1, CCDC140, CCDC150, CCDC195, CCL20, CCNYL1, CD28, CDK15, CDK5R2, CFAP65, CFLAR, CFLAR-AS1, CHPF, CHRND, CHRNG, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL4A3, COL4A4, COL6A3, COPS7B, COPS8, COPS9, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CROCC2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CUL3, CXCR1, CXCR2, CYP20A1, CYP27A1, D2HGDH, DAW1, DES, DES-LCR, DGKD, DIRC3, DIRC3-AS1, DIS3L2, DNAH7, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DTYMK, DUSP28, DYTN, ECEL1, EEF1B2, EFHD1, EIF4E2, EPHA4, ERBB4, ERFE, ESPNL, FAM117B, FAM124B, FAM237A, FARP2, FARSB, FASTKD2, FBXO36, FEV, FLACC1, FN1, FN1-DT, FTCDNL1, FZD5, FZD7, GAL3ST2, GBX2, GCSIR, GIGYF2, GLB1L, GLS, GMPPA, GPBAR1, GPC1, GPC1-AS1, GPR35, GPR55, GTF3C3, HDAC4, HDAC4-AS1, HDLBP, HDLBP-AS1, HECW2, HECW2-AS1, HES6, HIBCH, HJURP, HSPD1, HSPE1, HSPE1-MOB4, HTR2B, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, ILKAP, ING5, INHA, INO80D, INPP1, INPP5D, IQCA1, IQCA1-AS1, IRS1, ITM2C, KANSL1L, KANSL1L-AS1, KCNE4, KCNJ13, KCTD18, KIAA2012, KIAA2012-AS1, KIF1A, KLF7, KLHL30, LANCL1, LANCL1-AS1, LINC00471, LINC00607, LINC00608, LINC01107, LINC01173, LINC01237, LINC01280, LINC01494, LINC01614, LINC01790, LINC01792, LINC01802, LINC01803, LINC01807, LINC01821, LINC01827, LINC01857, LINC01877, LINC01878, LINC01891, LINC01907, LINC01923, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LINC02862, LINC02991, LOC100128563, LOC100129175, LOC100130452, LOC100287387, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC105373876, LOC106783501, LOC107980445, LOC108178994, LOC108254675, LOC108281167, LOC108348027, LOC108353814, LOC108353815, LOC108353821, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121148, LOC110121169, LOC110121201, LOC110121204, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110121267, LOC110599582, LOC111413021, LOC111501760, LOC111501790, LOC111828511, LOC111828512, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC112840904, LOC112840905, LOC112840906, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC114004367, LOC114004368, LOC114004369, LOC115945202, LOC115947632, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC115947637, LOC115947638, LOC115947639, LOC115947640, LOC120977017, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121009633, LOC121009634, LOC121009635, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC121725125, LOC121725126, LOC122319436, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC122861302, LOC122861303, LOC122861304, LOC122861305, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC122861311, LOC122861312, LOC122861313, LOC122861314, LOC122861315, LOC122861316, LOC122861317, LOC122861318, LOC122861319, LOC122861320, LOC122889004, LOC122889005, LOC122889006, LOC122889007, LOC122889008, LOC122889009, LOC122889010, LOC122889011, LOC122889012, LOC122889013, LOC122889014, LOC122889015, LOC124906109, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC126806473, LOC126806474, LOC126806475, LOC126806476, LOC126806477, LOC126806478, LOC126806479, LOC126806480, LOC126806481, LOC126806482, LOC126806483, LOC126806484, LOC126806485, LOC126806486, LOC126806487, LOC126806488, LOC126806489, LOC126806490, LOC126806491, LOC126806492, LOC126806493, LOC126806494, LOC126806495, LOC126806496, LOC126806497, LOC126806498, LOC126806499, LOC126806500, LOC126806501, LOC126806502, LOC126806503, LOC126806504
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr2:193803552-216569775
GRCh38:
Chr2:192938826-215705052
ABCA12, ABI2, ACADL, ADAM23, ALS2, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, AOX1, ATIC, BARD1, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf80, CARF, CASP10, CASP8, CCDC150, CCNYL1, CD28, CDK15, CFLAR, CFLAR-AS1, CLK1, CMKLR2, CMKLR2-AS, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP20A1, DNAH7, DYTN, EEF1B2, ERBB4, FAM117B, FAM237A, FASTKD2, FLACC1, FN1, FN1-DT, FTCDNL1, FZD5, FZD7, GTF3C3, HECW2, HECW2-AS1, HSPD1, HSPE1, HSPE1-MOB4, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, IKZF2, INO80D, KANSL1L, KANSL1L-AS1, KCTD18, KIAA2012, KIAA2012-AS1, KLF7, LANCL1, LANCL1-AS1, LINC00607, LINC01790, LINC01792, LINC01802, LINC01821, LINC01827, LINC01857, LINC01877, LINC01878, LINC01923, LINC01953, LINC02862, LOC100130452, LOC100507443, LOC101927960, LOC102724849, LOC108178994, LOC108254675, LOC108281167, LOC108353821, LOC110121148, LOC111413021, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC120977018, LOC120977019, LOC120977020, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC126806473, LOC126806474, LOC126806475, LOC126806476, LOC126806477, LOC126806478, LOC126806479, LOC126806480, LOC126806481, LOC126806482, LOC126806483, LOC126806484, LOC126806485, LOC126806486, LOC126806487, LOC126806488, LOC126806489, LOC126806490, LOC126806491, LOC126806492, LOC126806493, LOC126806494, LOC126806495, LOC126806496, LOC126806497, LOC126806498, LOC126806499, LOC126806500, LOC128772255, LOC128772256, MAIP1, MAP2, MARS2, MDH1B, METTL21A, MIR1302-4, MIR2355, MIR3130-1, MIR3130-2, MIR4438, MIR4775, MIR4776-1, MIR4776-2, MIR548F2, MIR7845, MOB4, MPP4, MYL1, MYOSLID, MYOSLID-AS1, NBEAL1, NDUFB3, NDUFS1, NIF3L1, NOP58, NRP2, ORC2, PARD3B, PGAP1, PIKFYVE, PLCL1, PLEKHM3, PPIL3, PTH2R, RAPH1, RFTN2, RPE, SATB2, SATB2-AS1, SF3B1, SGO2, SLC39A10, SNHG31, SNORA105B, SNORA41, SNORA70I, SNORD11, SNORD11B, SNORD51, SNORD70, SNORD70B, SPAG16, SPAG16-DT, SPATS2L, STK17B, STRADB, SUMO1, TMEM237, TRAK2, TYW5, UNC80, VWC2L, VWC2L-IT1, WDR12, ZDBF2
See casesPathogenic
(Jan 14, 2013)
no assertion criteria provided
7.
GRCh37:
Chr2:195763507-237382556
GRCh38:
Chr2:194898783-236473913
LOC126806480, LOC126806481, LOC126806482, LOC126806483, LOC126806484, LOC126806485, LOC126806486, LOC126806487, LOC126806488, LOC126806489, LOC126806490, LOC126806491, LOC126806492, LOC126806493, LOC126806494, LOC126806495, LOC126806496, LOC126806497, LOC126806498, LOC126806499, LOC126806500, LOC126806501, LOC126806502, LOC126806503, LOC126806504, LOC126806505, LOC126806506, LOC126806507, LOC126806508, LOC126806509, LOC126806510, LOC126806511, LOC126806512, LOC126806513, LOC126806514, LOC126806515, LOC126806516, LOC126806517, LOC126806518, LOC126806519, LOC126806520, LOC126806521, LOC126806522, LOC126806523, LOC126806524, LOC126806525, LOC126806526, LOC126806527, LOC126806528, LOC126806529, LOC126806530, LOC126806531, LOC126806532, LOC126806533, LOC126806534, LOC126806535, LOC126806536, LOC126806537, LOC126806538, LOC126806539, LOC126806540, LOC126806541, LOC126806542, LOC126806543, LOC126806544, LOC126806545, LOC126806546, LOC126806547, LOC126806548, LOC126806549, LOC126806550, LOC126806551, LOC126806552, LOC126806553, LOC126806554, LOC126806555, LOC126806556, LOC126806557, LOC126806558, LOC126806559, LOC126806560, LOC126806561, LOC126806562, LOC126806563, LOC126806564, LOC126806565, LOC126806566, LOC126806567, LOC126806568, LOC126806569, LOC126806570, LOC128772255, LOC128772256, LOC646736, LOC729968, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFF, MFF-DT, MIR1244-1, MIR1302-4, MIR1471, MIR153-1, MIR2355, MIR26B, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR375, MIR4268, MIR4438, MIR4439, MIR4775, MIR4776-1, MIR4776-2, MIR4777, MIR5001, MIR548F2, MIR562, MIR5702, MIR5703, MIR6513, MIR6809, MIR6810, MIR7845, MIR9500, MOB4, MOGAT1, MPP4, MREG, MROH2A, MRPL44, MYL1, MYOSLID, MYOSLID-AS1, NBEAL1, NCL, NDUFB3, NDUFS1, NEU2, NGEF, NHEJ1, NIF3L1, NMUR1, NOP58, NPPC, NRP2, NYAP2, OBSL1, ORC2, PARD3B, PAX3, PDE6D, PECR, PGAP1, PID1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PNKD, PPIL3, PRKAG3, PRSS56, PSMD1, PTH2R, PTMA, PTPRN, RAPH1, RESP18, RETREG2, RFTN2, RHBDD1, RNF25, RPE, RPL37A, RPL37A-DT, RUFY4, SAG, SATB2, SATB2-AS1, SCARNA5, SCARNA6, SCG2, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SERPINE2, SF3B1, SGO2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC39A10, SLC4A3, SMARCAL1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORA75, SNORC, SNORD11, SNORD11B, SNORD20, SNORD51, SNORD70, SNORD70B, SNORD82, SP100, SP110, SP140, SP140L, SPAG16, SPAG16-DT, SPATA3, SPATA3-AS1, SPATS2L, SPEG, SPEGNB, SPHKAP, SPP2, STK11IP, STK16, STK17B, STK36, STRADB, SUMO1, TESHL, TEX44, TIGD1, TM4SF20, TMBIM1, TMEM169, TMEM198, TMEM237, TNP1, TNRC17, TNS1, TNS1-AS1, TRAK2, TRIP12, TRPM8, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TYW5, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC80, USP37, USP40, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WNT10A, WNT6, XRCC5, ZDBF2, ZFAND2B, ZNF142, AAMP, ABCA12, ABCB6, ABI2, ACADL, ACSL3, ACSL3-AS1, ADAM23, AGAP1, AGAP1-IT1, AGFG1, ALPG, ALPI, ALPP, ALS2, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ANKZF1, AOX1, AP1S3, ARL4C, ARMC9, ARPC2, ASB18, ASIC4, ASIC4-AS1, ATG16L1, ATG9A, ATIC, B3GNT7, BARD1, BCS1L, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf72, C2orf80, C2orf83, CAB39, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CCDC140, CCDC150, CCDC195, CCL20, CCNYL1, CD28, CDK15, CDK5R2, CFAP65, CFLAR, CFLAR-AS1, CHPF, CHRND, CHRNG, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL4A3, COL4A4, COPS7B, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CUL3, CXCR1, CXCR2, CYP20A1, CYP27A1, DAW1, DES, DES-LCR, DGKD, DIRC3, DIRC3-AS1, DIS3L2, DNAH7, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DYTN, ECEL1, EEF1B2, EFHD1, EIF4E2, EPHA4, ERBB4, FAM117B, FAM124B, FAM237A, FARSB, FASTKD2, FBXO36, FEV, FLACC1, FN1, FN1-DT, FTCDNL1, FZD5, FZD7, GBX2, GCSIR, GIGYF2, GLB1L, GMPPA, GPBAR1, GPR55, GTF3C3, HECW2, HECW2-AS1, HJURP, HSPD1, HSPE1, HSPE1-MOB4, HTR2B, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, INHA, INO80D, INPP5D, IQCA1, IQCA1-AS1, IRS1, ITM2C, KANSL1L, KANSL1L-AS1, KCNE4, KCNJ13, KCTD18, KIAA2012, KIAA2012-AS1, KLF7, LANCL1, LANCL1-AS1, LINC00471, LINC00607, LINC00608, LINC01173, LINC01280, LINC01494, LINC01614, LINC01792, LINC01802, LINC01803, LINC01807, LINC01827, LINC01857, LINC01877, LINC01878, LINC01891, LINC01907, LINC01923, LINC01953, LINC01963, LINC02832, LINC02862, LOC100129175, LOC100130452, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC105373876, LOC107980445, LOC108178994, LOC108254675, LOC108281167, LOC108348027, LOC108353814, LOC108353815, LOC108353821, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121148, LOC110121169, LOC110121204, LOC110121267, LOC111413021, LOC111501760, LOC111828511, LOC111828512, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC112840904, LOC112840905, LOC112840906, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC114004367, LOC114004368, LOC114004369, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC122319436, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC122861302, LOC122861303, LOC122861304, LOC122861305, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC122861311, LOC122861312, LOC122861313, LOC122861314, LOC122861315, LOC122861316, LOC122861317, LOC122861318, LOC122861319, LOC122861320, LOC122889004, LOC122889005, LOC122889006, LOC122889007, LOC122889008, LOC122889009, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC126806473, LOC126806474, LOC126806475, LOC126806476, LOC126806477, LOC126806478, LOC126806479
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr2:196525318-204834211
GRCh38:
Chr2:195660594-203969488
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
9.
GRCh37:
Chr2:200801996-210896648
GRCh38:
Chr2:199937273-210031924
See casesPathogenic
(Apr 9, 2013)
no assertion criteria provided
10.
GRCh37:
Chr2:200811217-210849919
GRCh38:
Chr2:199946494-209985195
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
11.
GRCh37:
Chr2:203114262-203339479
GRCh38:
Chr2:202249539-202474756
SNORD70B, NOP58, SNORD11, SNORD11B, SNORD70, BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
12.
GRCh37:
Chr2:203234119-203242446
GRCh38:
Chr2:202369396-202377723
BMPR2Pulmonary arterial hypertensionPathogenicno assertion criteria provided
13.
GRCh37:
Chr2:203237969-203245739
GRCh38:
Chr2:202373246-202381016
BMPR2Pulmonary arterial hypertensionPathogenicno assertion criteria provided
14.
GRCh37:
Chr2:203240754-203240755
GRCh38:
Chr2:202376031-202376032
BMPR2not providedBenign
(Nov 8, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr2:203241084
GRCh38:
Chr2:202376361
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr2:203241169
GRCh38:
Chr2:202376446
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr2:203241234-203241235
GRCh38:
Chr2:202376511-202376512
BMPR2not providedLikely benign
(May 28, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr2:203241234-203241235
GRCh38:
Chr2:202376511-202376512
BMPR2not providedBenign
(Dec 10, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr2:203241234-203241235
GRCh38:
Chr2:202376511-202376512
BMPR2not provided, Pulmonary hypertension, primary, 1Benign/Likely benign
(Nov 20, 2020)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr2:203241235-203241237
GRCh38:
Chr2:202376512-202376514
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr2:203241251-203241252
GRCh38:
Chr2:202376528-202376529
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
22.
GRCh37:
Chr2:203241265
GRCh38:
Chr2:202376542
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr2:203241268
GRCh38:
Chr2:202376545
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr2:203241268-203241269
GRCh38:
Chr2:202376545-202376546
BMPR2Pulmonary hypertension, primary, 1Likely benign
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr2:203241271
GRCh38:
Chr2:202376548
BMPR2not provided, Pulmonary hypertension, primary, 1Benign/Likely benign
(Jul 7, 2018)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr2:203241271-203241274
GRCh38:
Chr2:202376548-202376551
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr2:203241274
GRCh38:
Chr2:202376551
BMPR2not provided, Pulmonary hypertension, primary, 1Conflicting interpretations of pathogenicity
(Jul 7, 2018)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr2:203241276
GRCh38:
Chr2:202376553
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr2:203241277
GRCh38:
Chr2:202376554
BMPR2not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr2:203241327
GRCh38:
Chr2:202376604
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr2:203241361
GRCh38:
Chr2:202376638
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr2:203241445
GRCh38:
Chr2:202376722
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr2:203241494
GRCh38:
Chr2:202376771
BMPR2Pulmonary hypertension, primary, 1Benign
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr2:203241496
GRCh38:
Chr2:202376773
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr2:203241529
GRCh38:
Chr2:202376806
BMPR2Pulmonary hypertension, primary, 1, not specified, Primary pulmonary hypertension,
not provided, Pulmonary hypertension, primary, 1, Pulmonary venoocclusive disease 1, autosomal dominant
Benign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr2:203241604
GRCh38:
Chr2:202376881
BMPR2Primary pulmonary hypertension, Pulmonary hypertension, primary, 1Uncertain significance
(Apr 13, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr2:203241623
GRCh38:
Chr2:202376900
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr2:203241658-203424670
GRCh38:
Chr2:202376935-202559947
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
39.
GRCh37:
Chr2:203241658-203329531
GRCh38:
Chr2:202376935-202464808
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
40.
GRCh37:
Chr2:203241764
GRCh38:
Chr2:202377041
BMPR2Pulmonary hypertension, primary, 1, Pulmonary hypertension, primary, 1, Pulmonary venoocclusive disease 1, autosomal dominant
Uncertain significance
(Sep 15, 2021)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr2:203241773
GRCh38:
Chr2:202377050
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr2:203241791
GRCh38:
Chr2:202377068
BMPR2Pulmonary hypertension, primary, 1, Pulmonary venoocclusive disease 1, autosomal dominant, Pulmonary hypertension, primary, 1
Uncertain significance
(Sep 29, 2021)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:203241854
GRCh38:
Chr2:202377131
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr2:203241885
GRCh38:
Chr2:202377162
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr2:203241888
GRCh38:
Chr2:202377165
BMPR2Pulmonary hypertension, primary, 1Likely benign
(Apr 28, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr2:203241897
GRCh38:
Chr2:202377174
BMPR2Pulmonary hypertension, primary, 1, Pulmonary venoocclusive disease 1, autosomal dominant, Primary pulmonary hypertension,
not provided, Pulmonary hypertension, primary, 1
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:203241979-203241980
GRCh38:
Chr2:202377256-202377257
BMPR2not provided, Pulmonary hypertension, primary, 1Benign/Likely benign
(Jul 11, 2019)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:203242105
GRCh38:
Chr2:202377382
BMPR2Pulmonary hypertension, primary, 1Benign
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr2:203242128
GRCh38:
Chr2:202377405
BMPR2Pulmonary hypertension, primary, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr2:203242135-203242334
GRCh38:
Chr2:202377412-202377611
BMPR2Idiopathic and/or familial pulmonary arterial hypertensionPathogenic
(Oct 2, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr2:203242197-203424670
GRCh38:
Chr2:202377474-202559947
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
52.
GRCh37:
Chr2:203242197-203397307
GRCh38:
Chr2:202377474-202532584
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
53.
GRCh37:
Chr2:203242197-203379610
GRCh38:
Chr2:202377474-202514887
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
54.
GRCh37:
Chr2:203242197-203378441
GRCh38:
Chr2:202377474-202513718
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
55.
GRCh37:
Chr2:203242197-203329531
GRCh38:
Chr2:202377474-202464808
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
56.
GRCh37:
Chr2:203242204-203242205
GRCh38:
Chr2:202377481-202377482
BMPR2S4fsPulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
57.
GRCh37:
Chr2:203242206
GRCh38:
Chr2:202377483
BMPR2Primary pulmonary hypertension, not provided, Pulmonary hypertension, primary, 1
Benign
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr2:203242209
GRCh38:
Chr2:202377486
BMPR2L5fsnot providedLikely pathogenic
(Apr 15, 2020)
criteria provided, single submitter
59.
GRCh37:
Chr2:203242211
GRCh38:
Chr2:202377488
BMPR2L5PInborn genetic diseasesUncertain significance
(Feb 2, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr2:203242212-203242216
GRCh38:
Chr2:202377489-202377493
BMPR2Q6fsPulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
61.
GRCh37:
Chr2:203242213
GRCh38:
Chr2:202377490
BMPR2Q6*Pulmonary hypertension, primary, 1Pathogenic
(Jul 11, 2016)
no assertion criteria provided
62.
GRCh37:
Chr2:203242216
GRCh38:
Chr2:202377493
BMPR2R7fsPulmonary arterial hypertensionPathogenicno assertion criteria provided
63.
GRCh37:
Chr2:203242217
GRCh38:
Chr2:202377494
BMPR2W9fsPulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
64.
GRCh37:
Chr2:203242218-203242226
GRCh38:
Chr2:202377495-202377503
BMPR2P8fsPulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
65.
GRCh37:
Chr2:203242221-203242236
GRCh38:
Chr2:202377498-202377513
BMPR2W9fsPulmonary arterial hypertensionPathogenicno assertion criteria provided
66.
GRCh37:
Chr2:203242224
GRCh38:
Chr2:202377501
BMPR2W9*Pulmonary arterial hypertension, Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
67.
GRCh37:
Chr2:203242225
GRCh38:
Chr2:202377502
BMPR2R10WPulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
68.
GRCh37:
Chr2:203242230
GRCh38:
Chr2:202377507
BMPR2Primary pulmonary hypertensionLikely benign
(Jul 3, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr2:203242235
GRCh38:
Chr2:202377512
BMPR2W13*Primary pulmonary hypertension, not providedPathogenic
(Aug 12, 2021)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr2:203242236
GRCh38:
Chr2:202377513
BMPR2W13*Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
71.
GRCh37:
Chr2:203242240
GRCh38:
Chr2:202377517
BMPR2P15fsPulmonary venoocclusive disease 1, Pulmonary hypertension, primary, 1Pathogenic
(Mar 15, 2003)
no assertion criteria provided
72.
GRCh37:
Chr2:203242242
GRCh38:
Chr2:202377519
BMPR2Primary pulmonary hypertensionLikely benign
(Aug 6, 2019)
criteria provided, single submitter
73.
GRCh37:
Chr2:203242244
GRCh38:
Chr2:202377521
BMPR2W16*Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
74.
GRCh37:
Chr2:203242245
GRCh38:
Chr2:202377522
BMPR2W16*Pulmonary hypertension, primary, 1, Primary pulmonary hypertensionPathogenic
(Mar 13, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:203242248-203383737
GRCh38:
Chr2:202377525-202519014
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
76.
GRCh37:
Chr2:203242254
GRCh38:
Chr2:202377531
BMPR2Primary pulmonary hypertension, Pulmonary hypertension, primary, 1, Pulmonary venoocclusive disease 1, autosomal dominant,
Pulmonary hypertension, primary, 1
Benign/Likely benign
(Jul 30, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:203242260
GRCh38:
Chr2:202377537
BMPR2Primary pulmonary hypertension, not provided, Pulmonary hypertension, primary, 1,
Pulmonary venoocclusive disease 1, autosomal dominant
Benign/Likely benign
(Mar 3, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr2:203242265
GRCh38:
Chr2:202377542
BMPR2T23IPrimary pulmonary hypertensionBenign
(Sep 12, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr2:203242268
GRCh38:
Chr2:202377545
BMPR2A24EPulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
80.
GRCh37:
Chr2:203242274
GRCh38:
Chr2:202377551
BMPR2Pulmonary arterial hypertensionLikely pathogenicno assertion criteria provided
81.
GRCh37:
Chr2:203242274-203424670
GRCh38:
Chr2:202377551-202559947
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
82.
GRCh37:
Chr2:203242274
GRCh38:
Chr2:202377551
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
83.
GRCh37:
Chr2:203242275
GRCh38:
Chr2:202377552
BMPR2Pulmonary arterial hypertensionLikely pathogenicno assertion criteria provided
84.
GRCh37:
Chr2:203242275
GRCh38:
Chr2:202377552
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
85.
GRCh37:
Chr2:203242278
GRCh38:
Chr2:202377555
BMPR2Pulmonary arterial hypertension, Pulmonary hypertension, primary, 1Pathogenic/Likely pathogenicno assertion criteria provided
86.
GRCh37:
Chr2:203242281
GRCh38:
Chr2:202377558
BMPR2Primary pulmonary hypertensionLikely benign
(May 21, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr2:203246347-203277608
GRCh38:
Chr2:202381624-202412885
BMPR2See casesUncertain significance
(Jun 1, 2012)
no assertion criteria provided
88.
GRCh37:
Chr2:203309853-203496210
GRCh38:
Chr2:202445130-202631487
BMPR2See casesPathogenic
(Dec 13, 2010)
no assertion criteria provided
89.
GRCh37:
Chr2:203325958-203332529
GRCh38:
Chr2:202461235-202467806
BMPR2Pulmonary arterial hypertensionPathogenicno assertion criteria provided
90.
GRCh37:
Chr2:203327217-203331596
GRCh38:
Chr2:202462494-202466873
BMPR2Pulmonary arterial hypertensionLikely pathogenicno assertion criteria provided
91.
GRCh37:
Chr2:203329496-203329540
GRCh38:
Chr2:202464773-202464817
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
92.
GRCh37:
Chr2:203329531-203329532
GRCh38:
Chr2:202464808-202464809
BMPR2Primary pulmonary hypertensionLikely pathogenic
(Oct 4, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr2:203329531
GRCh38:
Chr2:202464808
BMPR2Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
94.
GRCh37:
Chr2:203329532-203332412
GRCh38:
Chr2:202464809-202467689
BMPR2Pulmonary hypertension, primary, 1Pathogenic
(Jul 26, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr2:203329532-203329702
GRCh38:
Chr2:202464809-202464979
BMPR2Pulmonary venoocclusive disease 1, Pulmonary hypertension, primary, 1Pathogenic
(Feb 1, 2006)
no assertion criteria provided
96.
GRCh37:
Chr2:203329535
GRCh38:
Chr2:202464812
BMPR2S27LPrimary pulmonary hypertensionLikely benign
(Mar 26, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr2:203329536
GRCh38:
Chr2:202464813
BMPR2Pulmonary hypertension, primary, 1Benign
(Jan 13, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr2:203329537
GRCh38:
Chr2:202464814
BMPR2Q28*Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
99.
GRCh37:
Chr2:203329541
GRCh38:
Chr2:202464818
BMPR2N29SInborn genetic diseases, Primary pulmonary hypertension, Pulmonary hypertension, primary, 1
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr2:203329543
GRCh38:
Chr2:202464820
BMPR2Q30*Pulmonary hypertension, primary, 1Pathogenicno assertion criteria provided
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