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Items: 1 to 100 of 2250

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 casesPathogenic
(Aug 5, 2011)
no assertion criteria provided
6.
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 casesPathogenic
(Feb 4, 2013)
no assertion criteria provided
7.
GRCh37:
Chr2:227778673-227842845
GRCh38:
Chr2:226913957-226978129
COL4A4, RHBDD1See casesUncertain significance
(Apr 30, 2011)
no assertion criteria provided
8.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr2:227860187
GRCh38:
Chr2:226995471
COL4A4, LOC126806538, RHBDD1not providedBenign
(Oct 19, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr2:227860200
GRCh38:
Chr2:226995484
COL4A4, LOC126806538, RHBDD1M304VInborn genetic diseasesUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr2:227867439
GRCh38:
Chr2:227002723
COL4A4Alport syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr2:227867442
GRCh38:
Chr2:227002726
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr2:227867458
GRCh38:
Chr2:227002742
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr2:227867496
GRCh38:
Chr2:227002780
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr2:227867507
GRCh38:
Chr2:227002791
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr2:227867543
GRCh38:
Chr2:227002827
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr2:227867546-227867547
GRCh38:
Chr2:227002830-227002831
COL4A4Alport syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr2:227867648
GRCh38:
Chr2:227002932
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr2:227867656
GRCh38:
Chr2:227002940
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr2:227867672
GRCh38:
Chr2:227002956
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr2:227867678
GRCh38:
Chr2:227002962
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr2:227867694
GRCh38:
Chr2:227002978
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr2:227867719
GRCh38:
Chr2:227003003
COL4A4Alport syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr2:227867847
GRCh38:
Chr2:227003131
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr2:227867868
GRCh38:
Chr2:227003152
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr2:227867877
GRCh38:
Chr2:227003161
COL4A4Alport syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr2:227867906
GRCh38:
Chr2:227003190
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr2:227867935
GRCh38:
Chr2:227003219
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr2:227867938-227867939
GRCh38:
Chr2:227003222-227003223
COL4A4Alport syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr2:227868000
GRCh38:
Chr2:227003284
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr2:227868036-227868037
GRCh38:
Chr2:227003320-227003321
COL4A4Alport syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr2:227868093
GRCh38:
Chr2:227003377
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr2:227868101
GRCh38:
Chr2:227003385
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr2:227868103
GRCh38:
Chr2:227003387
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr2:227868165
GRCh38:
Chr2:227003449
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr2:227868250
GRCh38:
Chr2:227003534
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr2:227868329
GRCh38:
Chr2:227003613
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr2:227868351
GRCh38:
Chr2:227003635
COL4A4Alport syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr2:227868402
GRCh38:
Chr2:227003686
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr2:227868405
GRCh38:
Chr2:227003689
COL4A4Alport syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr2:227868574
GRCh38:
Chr2:227003858
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr2:227868580
GRCh38:
Chr2:227003864
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr2:227868630-227868631
GRCh38:
Chr2:227003914-227003915
COL4A4Alport syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr2:227868644
GRCh38:
Chr2:227003928
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr2:227868687
GRCh38:
Chr2:227003971
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr2:227868742
GRCh38:
Chr2:227004026
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr2:227868772
GRCh38:
Chr2:227004056
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr2:227868854
GRCh38:
Chr2:227004138
COL4A4Alport syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr2:227868882
GRCh38:
Chr2:227004166
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr2:227868885
GRCh38:
Chr2:227004169
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr2:227869079
GRCh38:
Chr2:227004363
COL4A4Kidney disorder, Alport syndromeUncertain significance
(Apr 27, 2017)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr2:227869096
GRCh38:
Chr2:227004380
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr2:227869186
GRCh38:
Chr2:227004470
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr2:227869192
GRCh38:
Chr2:227004476
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr2:227869234
GRCh38:
Chr2:227004518
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr2:227869309
GRCh38:
Chr2:227004593
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr2:227869364
GRCh38:
Chr2:227004648
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr2:227869394
GRCh38:
Chr2:227004678
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr2:227869554
GRCh38:
Chr2:227004838
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr2:227869619
GRCh38:
Chr2:227004903
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr2:227869730
GRCh38:
Chr2:227005014
COL4A4Alport syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr2:227869782
GRCh38:
Chr2:227005066
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr2:227869782
GRCh38:
Chr2:227005066
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr2:227869802
GRCh38:
Chr2:227005086
COL4A4Alport syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr2:227869920-227869921
GRCh38:
Chr2:227005204-227005205
COL4A4Alport syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr2:227869920-227869921
GRCh38:
Chr2:227005204-227005205
COL4A4Alport syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr2:227869921
GRCh38:
Chr2:227005205
COL4A4Alport syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr2:227869972
GRCh38:
Chr2:227005256
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr2:227870008
GRCh38:
Chr2:227005292
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr2:227870020
GRCh38:
Chr2:227005304
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr2:227870081
GRCh38:
Chr2:227005365
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr2:227870111
GRCh38:
Chr2:227005395
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr2:227870127
GRCh38:
Chr2:227005411
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr2:227870239
GRCh38:
Chr2:227005523
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr2:227870354
GRCh38:
Chr2:227005638
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr2:227870576
GRCh38:
Chr2:227005860
COL4A4Alport syndromeBenign
(Apr 27, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr2:227870577
GRCh38:
Chr2:227005861
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr2:227870618
GRCh38:
Chr2:227005902
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr2:227870644
GRCh38:
Chr2:227005928
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr2:227870692
GRCh38:
Chr2:227005976
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr2:227870695
GRCh38:
Chr2:227005979
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr2:227870749
GRCh38:
Chr2:227006033
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr2:227870799
GRCh38:
Chr2:227006083
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr2:227870851
GRCh38:
Chr2:227006135
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr2:227870868
GRCh38:
Chr2:227006152
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr2:227870870
GRCh38:
Chr2:227006154
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr2:227870929
GRCh38:
Chr2:227006213
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr2:227870968
GRCh38:
Chr2:227006252
COL4A4Alport syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr2:227870977
GRCh38:
Chr2:227006261
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr2:227871015
GRCh38:
Chr2:227006299
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr2:227871110
GRCh38:
Chr2:227006394
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr2:227871153
GRCh38:
Chr2:227006437
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr2:227871153
GRCh38:
Chr2:227006437
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr2:227871158
GRCh38:
Chr2:227006442
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr2:227871177
GRCh38:
Chr2:227006461
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr2:227871178
GRCh38:
Chr2:227006462
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr2:227871182
GRCh38:
Chr2:227006466
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr2:227871184
GRCh38:
Chr2:227006468
COL4A4Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr2:227871200
GRCh38:
Chr2:227006484
COL4A4Alport syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr2:227871208
GRCh38:
Chr2:227006492
COL4A4Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
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