| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Jul 18, 2014) | no assertion criteria provided |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Jan 14, 2013) | no assertion criteria provided |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:196525318-204834211
- GRCh38:
- Chr2:195660594-203969488
| ABI2, ALS2, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, AOX1, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, CARF, CASP10, CASP8, CCDC150, CD28, CDK15, CFLAR, CFLAR-AS1, CLK1, COQ10B, CTLA4, CYP20A1, DNAH7, FAM117B, FLACC1, FTCDNL1, FZD7, GTF3C3, HECW2, HECW2-AS1, HSPD1, HSPE1, HSPE1-MOB4, HYCC2, ICA1L, ICOS, KCTD18, KIAA2012, KIAA2012-AS1, LINC01792, LINC01877, LINC01923, LOC100130452, LOC108281167, LOC108353821, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC120977018, LOC120977019, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC126806473, LOC126806474, LOC128772255, LOC128772256, MAIP1, MARS2, MOB4, MPP4, NBEAL1, NDUFB3, NIF3L1, NOP58, ORC2, PGAP1, PLCL1, PPIL3, RAPH1, RFTN2, SATB2, SATB2-AS1, SF3B1, SGO2, SLC39A10, SNORA105B, SNORD11, SNORD11B, SNORD70, SNORD70B, SPATS2L, STK17B, STRADB, SUMO1, TMEM237, TRAK2, TYW5, WDR12 | | See cases | Pathogenic (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:200801996-210896648
- GRCh38:
- Chr2:199937273-210031924
| ABI2, ADAM23, ALS2, AOX1, BMPR2, BZW1, BZW1-AS1, C2CD6, C2orf80, CARF, CASP10, CASP8, CCNYL1, CD28, CDK15, CFLAR, CFLAR-AS1, CLK1, CMKLR2, CMKLR2-AS, CPO, CREB1, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP20A1, DYTN, EEF1B2, FAM117B, FAM237A, FASTKD2, FLACC1, FZD5, FZD7, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, INO80D, KANSL1L, KANSL1L-AS1, KCTD18, KIAA2012, KIAA2012-AS1, KLF7, LINC01792, LINC01802, LINC01857, LOC100507443, LOC101927960, LOC108281167, LOC111413021, LOC112806074, LOC120977018, LOC120977019, LOC121725109, LOC121725110, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, 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, LOC128772255, LOC128772256, MAIP1, MAP2, MDH1B, METTL21A, MIR1302-4, MIR2355, MIR3130-1, MIR3130-2, MIR4775, MIR7845, MPP4, MYOSLID, MYOSLID-AS1, NBEAL1, NDUFB3, NDUFS1, NIF3L1, NOP58, NRP2, ORC2, PARD3B, PIKFYVE, PLEKHM3, PPIL3, PTH2R, RAPH1, RPE, SGO2, SNORA41, SNORD11, SNORD11B, SNORD51, SNORD70, SNORD70B, SPATS2L, STRADB, SUMO1, TMEM237, TRAK2, TYW5, UNC80, WDR12, ZDBF2 | | See cases | Pathogenic (Apr 9, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:200811217-210849919
- GRCh38:
- Chr2:199946494-209985195
| ABI2, ADAM23, ALS2, AOX1, BMPR2, BZW1, BZW1-AS1, C2CD6, C2orf80, CARF, CASP10, CASP8, CCNYL1, CD28, CDK15, CFLAR, CFLAR-AS1, CLK1, CMKLR2, CMKLR2-AS, CPO, CREB1, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP20A1, DYTN, EEF1B2, FAM117B, FAM237A, FASTKD2, FLACC1, FZD5, FZD7, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, INO80D, KCTD18, KIAA2012, KIAA2012-AS1, KLF7, LINC01792, LINC01802, LINC01857, LOC100507443, LOC101927960, LOC108281167, LOC111413021, LOC112806074, LOC120977018, LOC120977019, LOC121725109, LOC121725110, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, 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, LOC128772255, LOC128772256, MAIP1, MAP2, MDH1B, METTL21A, MIR1302-4, MIR2355, MIR3130-1, MIR3130-2, MIR4775, MIR7845, MPP4, MYOSLID, MYOSLID-AS1, NBEAL1, NDUFB3, NDUFS1, NIF3L1, NOP58, NRP2, ORC2, PARD3B, PIKFYVE, PLEKHM3, PPIL3, PTH2R, RAPH1, SGO2, SNORA41, SNORD11, SNORD11B, SNORD51, SNORD70, SNORD70B, SPATS2L, STRADB, SUMO1, TMEM237, TRAK2, TYW5, UNC80, WDR12, ZDBF2 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:203114262-203339479
- GRCh38:
- Chr2:202249539-202474756
| SNORD70B, NOP58, SNORD11, SNORD11B, SNORD70, BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203234119-203242446
- GRCh38:
- Chr2:202369396-202377723
| BMPR2 | | Pulmonary arterial hypertension | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203237969-203245739
- GRCh38:
- Chr2:202373246-202381016
| BMPR2 | | Pulmonary arterial hypertension | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203240754-203240755
- GRCh38:
- Chr2:202376031-202376032
| BMPR2 | | not provided | Benign (Nov 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241084
- GRCh38:
- Chr2:202376361
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241169
- GRCh38:
- Chr2:202376446
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241234-203241235
- GRCh38:
- Chr2:202376511-202376512
| BMPR2 | | not provided | Likely benign (May 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241234-203241235
- GRCh38:
- Chr2:202376511-202376512
| BMPR2 | | not provided | Benign (Dec 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241234-203241235
- GRCh38:
- Chr2:202376511-202376512
| BMPR2 | | not provided, Pulmonary hypertension, primary, 1 | Benign/Likely benign (Nov 20, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:203241235-203241237
- GRCh38:
- Chr2:202376512-202376514
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241251-203241252
- GRCh38:
- Chr2:202376528-202376529
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203241265
- GRCh38:
- Chr2:202376542
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241268
- GRCh38:
- Chr2:202376545
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241268-203241269
- GRCh38:
- Chr2:202376545-202376546
| BMPR2 | | Pulmonary hypertension, primary, 1 | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241271
- GRCh38:
- Chr2:202376548
| BMPR2 | | not provided, Pulmonary hypertension, primary, 1 | Benign/Likely benign (Jul 7, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:203241271-203241274
- GRCh38:
- Chr2:202376548-202376551
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241274
- GRCh38:
- Chr2:202376551
| BMPR2 | | not provided, Pulmonary hypertension, primary, 1 | Conflicting interpretations of pathogenicity (Jul 7, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:203241276
- GRCh38:
- Chr2:202376553
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241277
- GRCh38:
- Chr2:202376554
| BMPR2 | | not provided | Likely benign (Jul 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241327
- GRCh38:
- Chr2:202376604
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241361
- GRCh38:
- Chr2:202376638
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241445
- GRCh38:
- Chr2:202376722
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241494
- GRCh38:
- Chr2:202376771
| BMPR2 | | Pulmonary hypertension, primary, 1 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241496
- GRCh38:
- Chr2:202376773
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241529
- GRCh38:
- Chr2:202376806
| BMPR2 | | Pulmonary 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 |
| - GRCh37:
- Chr2:203241604
- GRCh38:
- Chr2:202376881
| BMPR2 | | Primary pulmonary hypertension, Pulmonary hypertension, primary, 1 | Uncertain significance (Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:203241623
- GRCh38:
- Chr2:202376900
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241658-203424670
- GRCh38:
- Chr2:202376935-202559947
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203241658-203329531
- GRCh38:
- Chr2:202376935-202464808
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203241764
- GRCh38:
- Chr2:202377041
| BMPR2 | | Pulmonary hypertension, primary, 1, Pulmonary hypertension, primary, 1, Pulmonary venoocclusive disease 1, autosomal dominant
| Uncertain significance (Sep 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:203241773
- GRCh38:
- Chr2:202377050
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241791
- GRCh38:
- Chr2:202377068
| BMPR2 | | Pulmonary hypertension, primary, 1, Pulmonary venoocclusive disease 1, autosomal dominant, Pulmonary hypertension, primary, 1
| Uncertain significance (Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:203241854
- GRCh38:
- Chr2:202377131
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241885
- GRCh38:
- Chr2:202377162
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241888
- GRCh38:
- Chr2:202377165
| BMPR2 | | Pulmonary hypertension, primary, 1 | Likely benign (Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203241897
- GRCh38:
- Chr2:202377174
| BMPR2 | | Pulmonary 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 |
| - GRCh37:
- Chr2:203241979-203241980
- GRCh38:
- Chr2:202377256-202377257
| BMPR2 | | not provided, Pulmonary hypertension, primary, 1 | Benign/Likely benign (Jul 11, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:203242105
- GRCh38:
- Chr2:202377382
| BMPR2 | | Pulmonary hypertension, primary, 1 | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203242128
- GRCh38:
- Chr2:202377405
| BMPR2 | | Pulmonary hypertension, primary, 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203242135-203242334
- GRCh38:
- Chr2:202377412-202377611
| BMPR2 | | Idiopathic and/or familial pulmonary arterial hypertension | Pathogenic (Oct 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203242197-203424670
- GRCh38:
- Chr2:202377474-202559947
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242197-203397307
- GRCh38:
- Chr2:202377474-202532584
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242197-203379610
- GRCh38:
- Chr2:202377474-202514887
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242197-203378441
- GRCh38:
- Chr2:202377474-202513718
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242197-203329531
- GRCh38:
- Chr2:202377474-202464808
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242204-203242205
- GRCh38:
- Chr2:202377481-202377482
| BMPR2 | S4fs | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242206
- GRCh38:
- Chr2:202377483
| BMPR2 | | Primary pulmonary hypertension, not provided, Pulmonary hypertension, primary, 1
| Benign (Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:203242209
- GRCh38:
- Chr2:202377486
| BMPR2 | L5fs | not provided | Likely pathogenic (Apr 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203242211
- GRCh38:
- Chr2:202377488
| BMPR2 | L5P | Inborn genetic diseases | Uncertain significance (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203242212-203242216
- GRCh38:
- Chr2:202377489-202377493
| BMPR2 | Q6fs | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242213
- GRCh38:
- Chr2:202377490
| BMPR2 | Q6* | Pulmonary hypertension, primary, 1 | Pathogenic (Jul 11, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:203242216
- GRCh38:
- Chr2:202377493
| BMPR2 | R7fs | Pulmonary arterial hypertension | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242217
- GRCh38:
- Chr2:202377494
| BMPR2 | W9fs | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242218-203242226
- GRCh38:
- Chr2:202377495-202377503
| BMPR2 | P8fs | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242221-203242236
- GRCh38:
- Chr2:202377498-202377513
| BMPR2 | W9fs | Pulmonary arterial hypertension | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242224
- GRCh38:
- Chr2:202377501
| BMPR2 | W9* | Pulmonary arterial hypertension, Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242225
- GRCh38:
- Chr2:202377502
| BMPR2 | R10W | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242230
- GRCh38:
- Chr2:202377507
| BMPR2 | | Primary pulmonary hypertension | Likely benign (Jul 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203242235
- GRCh38:
- Chr2:202377512
| BMPR2 | W13* | Primary pulmonary hypertension, not provided | Pathogenic (Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:203242236
- GRCh38:
- Chr2:202377513
| BMPR2 | W13* | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242240
- GRCh38:
- Chr2:202377517
| BMPR2 | P15fs | Pulmonary venoocclusive disease 1, Pulmonary hypertension, primary, 1 | Pathogenic (Mar 15, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr2:203242242
- GRCh38:
- Chr2:202377519
| BMPR2 | | Primary pulmonary hypertension | Likely benign (Aug 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203242244
- GRCh38:
- Chr2:202377521
| BMPR2 | W16* | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242245
- GRCh38:
- Chr2:202377522
| BMPR2 | W16* | Pulmonary hypertension, primary, 1, Primary pulmonary hypertension | Pathogenic (Mar 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:203242248-203383737
- GRCh38:
- Chr2:202377525-202519014
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242254
- GRCh38:
- Chr2:202377531
| BMPR2 | | Primary 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 |
| - GRCh37:
- Chr2:203242260
- GRCh38:
- Chr2:202377537
| BMPR2 | | Primary 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 |
| - GRCh37:
- Chr2:203242265
- GRCh38:
- Chr2:202377542
| BMPR2 | T23I | Primary pulmonary hypertension | Benign (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203242268
- GRCh38:
- Chr2:202377545
| BMPR2 | A24E | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242274
- GRCh38:
- Chr2:202377551
| BMPR2 | | Pulmonary arterial hypertension | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242274-203424670
- GRCh38:
- Chr2:202377551-202559947
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242274
- GRCh38:
- Chr2:202377551
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242275
- GRCh38:
- Chr2:202377552
| BMPR2 | | Pulmonary arterial hypertension | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242275
- GRCh38:
- Chr2:202377552
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242278
- GRCh38:
- Chr2:202377555
| BMPR2 | | Pulmonary arterial hypertension, Pulmonary hypertension, primary, 1 | Pathogenic/Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203242281
- GRCh38:
- Chr2:202377558
| BMPR2 | | Primary pulmonary hypertension | Likely benign (May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203246347-203277608
- GRCh38:
- Chr2:202381624-202412885
| BMPR2 | | See cases | Uncertain significance (Jun 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:203309853-203496210
- GRCh38:
- Chr2:202445130-202631487
| BMPR2 | | See cases | Pathogenic (Dec 13, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:203325958-203332529
- GRCh38:
- Chr2:202461235-202467806
| BMPR2 | | Pulmonary arterial hypertension | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203327217-203331596
- GRCh38:
- Chr2:202462494-202466873
| BMPR2 | | Pulmonary arterial hypertension | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203329496-203329540
- GRCh38:
- Chr2:202464773-202464817
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203329531-203329532
- GRCh38:
- Chr2:202464808-202464809
| BMPR2 | | Primary pulmonary hypertension | Likely pathogenic (Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203329531
- GRCh38:
- Chr2:202464808
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203329532-203332412
- GRCh38:
- Chr2:202464809-202467689
| BMPR2 | | Pulmonary hypertension, primary, 1 | Pathogenic (Jul 26, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203329532-203329702
- GRCh38:
- Chr2:202464809-202464979
| BMPR2 | | Pulmonary venoocclusive disease 1, Pulmonary hypertension, primary, 1 | Pathogenic (Feb 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr2:203329535
- GRCh38:
- Chr2:202464812
| BMPR2 | S27L | Primary pulmonary hypertension | Likely benign (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203329536
- GRCh38:
- Chr2:202464813
| BMPR2 | | Pulmonary hypertension, primary, 1 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:203329537
- GRCh38:
- Chr2:202464814
| BMPR2 | Q28* | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:203329541
- GRCh38:
- Chr2:202464818
| BMPR2 | N29S | Inborn genetic diseases, Primary pulmonary hypertension, Pulmonary hypertension, primary, 1
| Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:203329543
- GRCh38:
- Chr2:202464820
| BMPR2 | Q30* | Pulmonary hypertension, primary, 1 | Pathogenic | no assertion criteria provided |