| - 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, COPS8-DT, 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, LINC01825, LINC01827, LINC01857, LINC01877, LINC01878, LINC01880, LINC01891, LINC01907, LINC01923, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LINC02862, LINC02991, LOC100129175, LOC100130452, LOC100287387, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC102724861, LOC105373835, LOC105373876, LOC105373907, LOC105373929, 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, 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, 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
| 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, 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, 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, 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, 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, COL4A4, COL5A2, COL6A3, COPS7B, COPS8, COPS8-DT, 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, LINC01825, LINC01827, LINC01857, LINC01877, LINC01878, LINC01891, LINC01907, LINC01923, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LINC02862, LINC02991, LOC100129175, LOC100130452, LOC100287387, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC102724861, LOC105373835, LOC105373876, LOC105373907, LOC105373929, 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 | | See cases | Pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr2:191175462-242834921
- GRCh38:
- Chr2:190310736-241892770
| 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, LINC01825, LINC01827, LINC01857, LINC01877, LINC01878, LINC01891, LINC01907, LINC01923, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LINC02862, LINC02991, LOC100129175, LOC100130452, LOC100287387, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC102724861, LOC105373835, LOC105373876, LOC105373907, LOC105373929, 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, 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, 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, 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, COPS8-DT, COPS9, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CROCC2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:195763507-237382556
- GRCh38:
- Chr2:194898783-236473913
| 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, 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, LINC01825, LINC01827, LINC01857, LINC01877, LINC01878, LINC01891, LINC01907, LINC01923, LINC01953, LINC01963, LINC02832, LINC02862, LOC100129175, LOC100130452, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC102724861, LOC105373835, LOC105373876, LOC105373907, LOC105373929, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:211444400-243059659
- GRCh38:
- Chr2:210579676-242126245
| MIR3131, MIR3132, MIR3133, MIR375, MIR4268, MIR4269, MIR4438, MIR4439, MIR4440, MIR4441, MIR4776-1, MIR4776-2, MIR4777, MIR4786, MIR5001, MIR548F2, MIR562, MIR5702, MIR5703, MIR6513, MIR6809, MIR6810, MIR6811, MIR9500, MLPH, MOGAT1, MREG, MROH2A, MRPL44, MTERF4, NCL, NDUFA10, NEU2, NEU4, NGEF, NHEJ1, NMUR1, NPPC, NYAP2, OBSL1, OR6B2, OR6B3, OTOS, PASK, PAX3, PDCD1, PDE6D, PECR, PER2, PID1, PLCD4, PNKD, PPP1R7, PRKAG3, PRLH, PRR21, PRSS56, PSMD1, PTMA, PTPRN, RAB17, RAB17-DT, RAMP1, RBM44, RESP18, RETREG2, RHBDD1, RNF25, RNPEPL1, RPL37A, RPL37A-DT, RTP5, RUFY4, SAG, SCARNA5, SCARNA6, SCG2, SCLY, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SEPTIN2, SERPINE2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC4A3, SMARCAL1, SNED1, SNED1-AS1, SNHG31, SNORA115, SNORA70I, SNORA75, SNORC, SNORD20, SNORD82, SP100, SP110, SP140, SP140L, SPAG16, SPAG16-DT, SPATA3, SPATA3-AS1, SPEG, SPEGNB, SPHKAP, SPP2, STK11IP, STK16, STK25, STK36, TESHL, TEX44, THAP4, TIGD1, TM4SF20, TMBIM1, TMEM169, TMEM198, TNP1, TNRC17, TNS1, TNS1-AS1, TRAF3IP1, TRIP12, TRPM8, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TWIST2, UBE2F, UBE2F-SCLY, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UICLM, USP37, USP40, VIL1, VWC2L, VWC2L-IT1, WDFY1, WNT10A, WNT6, XRCC5, ZFAND2B, ZNF142, AAMP, ABCA12, ABCB6, ACKR3, ACSL3, ACSL3-AS1, AGAP1, AGAP1-IT1, AGFG1, AGXT, ALPG, ALPI, ALPP, ANKMY1, ANKZF1, ANO7, AP1S3, AQP12A, AQP12B, ARL4C, ARMC9, ARPC2, ASB1, ASB18, ASIC4, ASIC4-AS1, ATG16L1, ATG4B, ATG9A, ATIC, B3GNT7, BARD1, BCS1L, BOK, BOK-AS1, C2orf72, C2orf83, CAB39, CAPN10, CAPN10-DT, CATIP, CATIP-AS1, CATIP-AS2, CCDC140, CCDC195, CCL20, CDK5R2, CFAP65, CHPF, CHRND, CHRNG, CNOT9, CNPPD1, COL4A3, COL4A4, COL6A3, COPS7B, COPS8, COPS8-DT, COPS9, CPS1, CPS1-IT1, CROCC2, CRYBA2, CT75, CTDSP1, CUL3, CXCR1, CXCR2, CYP27A1, D2HGDH, DAW1, DES, DES-LCR, DGKD, DIRC3, DIRC3-AS1, DIS3L2, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DTYMK, DUSP28, ECEL1, EFHD1, EIF4E2, EPHA4, ERBB4, ERFE, ESPNL, FAM124B, FAM240C, FARP2, FARSB, FBXO36, FEV, FN1, FN1-DT, GAL3ST2, GBX2, GCSIR, GIGYF2, GLB1L, GMPPA, GPBAR1, GPC1, GPC1-AS1, GPR35, GPR55, HDAC4, HDAC4-AS1, HDLBP, HDLBP-AS1, HES6, HJURP, HTR2B, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, ILKAP, ING5, INHA, INPP5D, IQCA1, IQCA1-AS1, IRS1, ITM2C, KCNE4, KCNJ13, KIF1A, KLHL30, LINC00471, LINC00607, LINC00608, LINC01107, LINC01173, LINC01237, LINC01238, LINC01280, LINC01494, LINC01614, LINC01803, LINC01807, LINC01878, LINC01880, LINC01881, LINC01891, LINC01907, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LINC02862, LINC02991, LOC100129175, LOC100287387, LOC101928881, LOC102724849, LOC102724861, LOC105373876, LOC105373907, LOC105373929, LOC106783501, LOC107980445, LOC108348027, LOC108353814, LOC108353815, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121148, LOC110121169, LOC110121201, LOC110121204, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110121267, LOC110599582, LOC111501760, LOC111501790, LOC111828511, LOC111828512, 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, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC115947637, LOC115947638, LOC115947639, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121009633, LOC121009634, LOC121009635, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC121725125, LOC121725126, LOC122319436, 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, 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, LOC150935, LOC285097, LOC285191, LOC646736, LOC729968, LOC93463, LRRFIP1, MAB21L4, MARCHF4, MFF, MFF-DT, MGC16025, MIR1244-1, MIR1471, MIR149, MIR153-1, MIR2467, MIR26B | | See cases | Pathogenic (Aug 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:218966482-243059659
- GRCh38:
- Chr2:218101759-242126245
| 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, 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, LOC150935, LOC285097, LOC285191, LOC646736, LOC729968, LOC93463, LRRFIP1, MAB21L4, MFF, MFF-DT, MGC16025, MIR1244-1, MIR1471, MIR149, MIR153-1, MIR2467, MIR26B, MIR3131, MIR3132, MIR3133, MIR375, MIR4268, MIR4269, MIR4439, MIR4440, MIR4441, MIR4777, MIR4786, MIR5001, MIR562, MIR5702, MIR5703, MIR6513, MIR6810, MIR6811, MIR9500, MLPH, MOGAT1, MROH2A, MRPL44, MTERF4, NCL, NDUFA10, NEU2, NEU4, NGEF, NHEJ1, NMUR1, NPPC, NYAP2, OBSL1, OR6B2, OR6B3, OTOS, PASK, PAX3, PDCD1, PDE6D, PER2, PID1, PLCD4, PNKD, PPP1R7, PRKAG3, PRLH, PRR21, PRSS56, PSMD1, PTMA, PTPRN, RAB17, RAB17-DT, RAMP1, RBM44, RESP18, RETREG2, RHBDD1, RNF25, RNPEPL1, RTP5, SAG, SCARNA5, SCARNA6, SCG2, SCLY, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SEPTIN2, SERPINE2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC4A3, SNED1, SNED1-AS1, SNORA75, SNORC, SNORD20, SNORD82, SP100, SP110, SP140, SP140L, SPATA3, SPATA3-AS1, SPEG, SPEGNB, SPHKAP, SPP2, STK11IP, STK16, STK25, STK36, TEX44, THAP4, TIGD1, TM4SF20, TMBIM1, TMEM198, TNRC17, TRAF3IP1, TRIP12, TRPM8, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TWIST2, UBE2F, UBE2F-SCLY, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UICLM, USP37, USP40, VIL1, WDFY1, WNT10A, WNT6, ZFAND2B, ZNF142, AAMP, ABCB6, ACKR3, ACSL3, ACSL3-AS1, AGAP1, AGAP1-IT1, AGFG1, AGXT, ALPG, ALPI, ALPP, ANKMY1, ANKZF1, ANO7, AP1S3, AQP12A, AQP12B, ARL4C, ARMC9, ARPC2, ASB1, ASB18, ASIC4, ASIC4-AS1, ATG16L1, ATG4B, ATG9A, B3GNT7, BCS1L, BOK, BOK-AS1, C2orf72, C2orf83, CAB39, CAPN10, CAPN10-DT, CATIP, CATIP-AS1, CATIP-AS2, CCDC140, CCDC195, CCL20, CDK5R2, CFAP65, CHPF, CHRND, CHRNG, CNOT9, CNPPD1, COL4A3, COL4A4, COL6A3, COPS7B, COPS8, COPS8-DT, COPS9, CROCC2, CRYBA2, CT75, CTDSP1, CUL3, CXCR1, CXCR2, CYP27A1, D2HGDH, DAW1, DES, DES-LCR, DGKD, DIS3L2, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DTYMK, DUSP28, ECEL1, EFHD1, EIF4E2, EPHA4, ERFE, ESPNL, FAM124B, FAM240C, FARP2, FARSB, FBXO36, FEV, GAL3ST2, GBX2, GCSIR, GIGYF2, GLB1L, GMPPA, GPBAR1, GPC1, GPC1-AS1, GPR35, GPR55, HDAC4, HDAC4-AS1, HDLBP, HDLBP-AS1, HES6, HJURP, HTR2B, IHH, ILKAP, ING5, INHA, INPP5D, IQCA1, IQCA1-AS1, IRS1, ITM2C, KCNE4, KCNJ13, KIF1A, KLHL30, LINC00471, LINC00608, LINC01107, LINC01173, LINC01237, LINC01238, LINC01494, LINC01803, LINC01807, LINC01880, LINC01881, LINC01891, LINC01907, LINC01937, LINC01940, LINC02610, LINC02832, LINC02991, LOC100129175, LOC100287387, LOC101928881, LOC105373907, LOC105373929, LOC106783501, LOC107980445, LOC108348027, LOC108353814, LOC108353815, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121169, LOC110121201, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110121267, LOC110599582, LOC111501760, LOC111501790, LOC111828512, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC112840904, LOC112840905, LOC112840906, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC114004368, LOC114004369, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC115947637, LOC115947638, LOC115947639, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121009633, LOC121009634, LOC121009635, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC121725125, LOC121725126, LOC122319436, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC122861302, LOC122861303, LOC122861304, LOC122861305, LOC122861306, LOC122861307 | | See cases | Pathogenic (Feb 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:227778673-227842845
- GRCh38:
- Chr2:226913957-226978129
| COL4A4, RHBDD1 | | See cases | Uncertain significance (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:227842845-237795242
- GRCh38:
- Chr2:226978129-236886599
| ACKR3, AGAP1, AGAP1-IT1, AGFG1, ALPG, ALPI, ALPP, ARL4C, ARMC9, ASB18, ATG16L1, B3GNT7, C2orf72, C2orf83, CAB39, CCL20, CHRND, CHRNG, COL4A3, COL4A4, COPS7B, DAW1, DGKD, DIS3L2, DNAJB3, DNER, ECEL1, EFHD1, EIF4E2, FBXO36, GBX2, GCSIR, GIGYF2, GPR55, HJURP, HTR2B, INPP5D, IQCA1, IQCA1-AS1, ITM2C, KCNJ13, LINC00471, LINC01173, LINC01807, LINC01891, LINC01907, LOC101928881, LOC105373929, LOC108348027, LOC108353814, LOC108353815, LOC110120629, LOC110120691, LOC110120803, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC114004369, LOC115947634, LOC115947635, LOC115947636, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC122861305, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC122861311, LOC122861312, LOC122861313, LOC122861314, LOC122861315, LOC122861316, LOC122861317, LOC122861318, LOC122861319, LOC122861320, LOC122889004, LOC122889005, LOC122889006, LOC122889007, LOC122889008, LOC122889009, 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, LOC729968, MFF, MFF-DT, MIR1244-1, MIR1471, MIR4777, MIR5001, MIR562, MIR5703, MROH2A, NCL, NEU2, NGEF, NMUR1, NPPC, PDE6D, PID1, PRSS56, PSMD1, PTMA, RHBDD1, SAG, SCARNA5, SCARNA6, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SH3BP4, SLC16A14, SLC19A3, SNORA75, SNORC, SNORD20, SNORD82, SP100, SP110, SP140, SP140L, SPATA3, SPATA3-AS1, SPHKAP, SPP2, TEX44, TIGD1, TM4SF20, TNRC17, TRIP12, TRPM8, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227860187
- GRCh38:
- Chr2:226995471
| COL4A4, LOC126806538, RHBDD1 | | not provided | Benign (Oct 19, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227860200
- GRCh38:
- Chr2:226995484
| COL4A4, LOC126806538, RHBDD1 | M304V | Inborn genetic diseases | Uncertain significance (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867439
- GRCh38:
- Chr2:227002723
| COL4A4 | | Alport syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867442
- GRCh38:
- Chr2:227002726
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867458
- GRCh38:
- Chr2:227002742
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867496
- GRCh38:
- Chr2:227002780
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867507
- GRCh38:
- Chr2:227002791
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867543
- GRCh38:
- Chr2:227002827
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867546-227867547
- GRCh38:
- Chr2:227002830-227002831
| COL4A4 | | Alport syndrome | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867648
- GRCh38:
- Chr2:227002932
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867656
- GRCh38:
- Chr2:227002940
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867672
- GRCh38:
- Chr2:227002956
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867678
- GRCh38:
- Chr2:227002962
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867694
- GRCh38:
- Chr2:227002978
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867719
- GRCh38:
- Chr2:227003003
| COL4A4 | | Alport syndrome | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867847
- GRCh38:
- Chr2:227003131
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867868
- GRCh38:
- Chr2:227003152
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867877
- GRCh38:
- Chr2:227003161
| COL4A4 | | Alport syndrome | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867906
- GRCh38:
- Chr2:227003190
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867935
- GRCh38:
- Chr2:227003219
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227867938-227867939
- GRCh38:
- Chr2:227003222-227003223
| COL4A4 | | Alport syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868000
- GRCh38:
- Chr2:227003284
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868036-227868037
- GRCh38:
- Chr2:227003320-227003321
| COL4A4 | | Alport syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868093
- GRCh38:
- Chr2:227003377
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868101
- GRCh38:
- Chr2:227003385
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868103
- GRCh38:
- Chr2:227003387
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868165
- GRCh38:
- Chr2:227003449
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868250
- GRCh38:
- Chr2:227003534
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868329
- GRCh38:
- Chr2:227003613
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868351
- GRCh38:
- Chr2:227003635
| COL4A4 | | Alport syndrome | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868402
- GRCh38:
- Chr2:227003686
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868405
- GRCh38:
- Chr2:227003689
| COL4A4 | | Alport syndrome | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868574
- GRCh38:
- Chr2:227003858
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868580
- GRCh38:
- Chr2:227003864
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868630-227868631
- GRCh38:
- Chr2:227003914-227003915
| COL4A4 | | Alport syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868644
- GRCh38:
- Chr2:227003928
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868687
- GRCh38:
- Chr2:227003971
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868742
- GRCh38:
- Chr2:227004026
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868772
- GRCh38:
- Chr2:227004056
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868854
- GRCh38:
- Chr2:227004138
| COL4A4 | | Alport syndrome | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868882
- GRCh38:
- Chr2:227004166
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227868885
- GRCh38:
- Chr2:227004169
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869079
- GRCh38:
- Chr2:227004363
| COL4A4 | | Kidney disorder, Alport syndrome | Uncertain significance (Apr 27, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:227869096
- GRCh38:
- Chr2:227004380
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869186
- GRCh38:
- Chr2:227004470
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869192
- GRCh38:
- Chr2:227004476
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869234
- GRCh38:
- Chr2:227004518
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869309
- GRCh38:
- Chr2:227004593
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869364
- GRCh38:
- Chr2:227004648
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869394
- GRCh38:
- Chr2:227004678
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869554
- GRCh38:
- Chr2:227004838
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869619
- GRCh38:
- Chr2:227004903
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869730
- GRCh38:
- Chr2:227005014
| COL4A4 | | Alport syndrome | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869782
- GRCh38:
- Chr2:227005066
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869782
- GRCh38:
- Chr2:227005066
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869802
- GRCh38:
- Chr2:227005086
| COL4A4 | | Alport syndrome | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869920-227869921
- GRCh38:
- Chr2:227005204-227005205
| COL4A4 | | Alport syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869920-227869921
- GRCh38:
- Chr2:227005204-227005205
| COL4A4 | | Alport syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869921
- GRCh38:
- Chr2:227005205
| COL4A4 | | Alport syndrome | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227869972
- GRCh38:
- Chr2:227005256
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870008
- GRCh38:
- Chr2:227005292
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870020
- GRCh38:
- Chr2:227005304
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870081
- GRCh38:
- Chr2:227005365
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870111
- GRCh38:
- Chr2:227005395
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870127
- GRCh38:
- Chr2:227005411
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870239
- GRCh38:
- Chr2:227005523
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870354
- GRCh38:
- Chr2:227005638
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870576
- GRCh38:
- Chr2:227005860
| COL4A4 | | Alport syndrome | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870577
- GRCh38:
- Chr2:227005861
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870618
- GRCh38:
- Chr2:227005902
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870644
- GRCh38:
- Chr2:227005928
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870692
- GRCh38:
- Chr2:227005976
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870695
- GRCh38:
- Chr2:227005979
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870749
- GRCh38:
- Chr2:227006033
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870799
- GRCh38:
- Chr2:227006083
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870851
- GRCh38:
- Chr2:227006135
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870868
- GRCh38:
- Chr2:227006152
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870870
- GRCh38:
- Chr2:227006154
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870929
- GRCh38:
- Chr2:227006213
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870968
- GRCh38:
- Chr2:227006252
| COL4A4 | | Alport syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227870977
- GRCh38:
- Chr2:227006261
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227871015
- GRCh38:
- Chr2:227006299
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227871110
- GRCh38:
- Chr2:227006394
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227871153
- GRCh38:
- Chr2:227006437
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227871153
- GRCh38:
- Chr2:227006437
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227871158
- GRCh38:
- Chr2:227006442
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227871177
- GRCh38:
- Chr2:227006461
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227871178
- GRCh38:
- Chr2:227006462
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227871182
- GRCh38:
- Chr2:227006466
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227871184
- GRCh38:
- Chr2:227006468
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227871200
- GRCh38:
- Chr2:227006484
| COL4A4 | | Alport syndrome | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:227871208
- GRCh38:
- Chr2:227006492
| COL4A4 | | Alport syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |