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Items: 1 to 100 of 2009

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:
Chr2:227842845-237795242
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
8.
GRCh37:
Chr2:228029029
GRCh38:
Chr2:227164313
COL4A3, COL4A4Alport syndrome, Benign familial hematuria, Autosomal dominant Alport syndrome,
Autosomal recessive Alport syndrome
Uncertain significance
(Jul 21, 2021)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr2:228029297
GRCh38:
Chr2:227164581
COL4A3Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr2:228029309
GRCh38:
Chr2:227164593
COL4A3Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr2:228029362
GRCh38:
Chr2:227164646
COL4A3Alport syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr2:228029417
GRCh38:
Chr2:227164701
COL4A3Alport syndrome, not providedConflicting interpretations of pathogenicity
(Jun 7, 2018)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr2:228029427
GRCh38:
Chr2:227164711
COL4A3Alport syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr2:228029430
GRCh38:
Chr2:227164714
COL4A3not specified, Alport syndromeConflicting interpretations of pathogenicity
(Mar 9, 2018)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr2:228029433
GRCh38:
Chr2:227164717
COL4A3Alport syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr2:228029443
GRCh38:
Chr2:227164727
COL4A3M1Vnot providedPathogenic
(Oct 31, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr2:228029443
GRCh38:
Chr2:227164727
COL4A3M1LAutosomal recessive Alport syndrome, not providedPathogenic/Likely pathogenic
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr2:228029444
GRCh38:
Chr2:227164728
COL4A3M1TAutosomal recessive Alport syndromeLikely pathogenic
(Mar 7, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr2:228029448
GRCh38:
Chr2:227164732
COL4A3not providedLikely benign
(Sep 25, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr2:228029453
GRCh38:
Chr2:227164737
COL4A3R4QAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided
Uncertain significance
(Mar 17, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr2:228029454
GRCh38:
Chr2:227164738
COL4A3not providedLikely benign
(Feb 20, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr2:228029457
GRCh38:
Chr2:227164741
COL4A3not providedLikely benign
(Aug 6, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr2:228029457
GRCh38:
Chr2:227164741
COL4A3not providedLikely benign
(Mar 24, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr2:228029457
GRCh38:
Chr2:227164741
COL4A3not providedLikely benign
(Sep 28, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr2:228029458
GRCh38:
Chr2:227164742
COL4A3A6Snot specified, not providedUncertain significance
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr2:228029463
GRCh38:
Chr2:227164747
COL4A3Benign familial hematuria, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
not provided, not specified
Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:228029464
GRCh38:
Chr2:227164748
COL4A3not providedLikely benign
(Nov 30, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr2:228029467
GRCh38:
Chr2:227164751
COL4A3P9SBenign familial hematuria, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
not provided
Conflicting interpretations of pathogenicity
(Jul 6, 2022)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr2:228029468
GRCh38:
Chr2:227164752
COL4A3P9Lnot providedUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr2:228029469
GRCh38:
Chr2:227164753
COL4A3not providedLikely benign
(Dec 9, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr2:228029469
GRCh38:
Chr2:227164753
COL4A3not providedLikely benign
(Aug 11, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr2:228029469
GRCh38:
Chr2:227164753
COL4A3not providedLikely benign
(Oct 23, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr2:228029470
GRCh38:
Chr2:227164754
COL4A3Q10*Autosomal recessive Alport syndrome, not providedPathogenic
(Apr 4, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr2:228029472
GRCh38:
Chr2:227164756
COL4A3not providedLikely benign
(Feb 27, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr2:228029472-228029495
GRCh38:
Chr2:227164756-227164779
COL4A3Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided, Autosomal recessive Alport syndrome
Pathogenic
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr2:228029475
GRCh38:
Chr2:227164759
COL4A3L12fsnot providedPathogenic
(Oct 30, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr2:228029475-228029486
GRCh38:
Chr2:227164759-227164770
COL4A3Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not specified, not provided
Likely benign
(Mar 16, 2023)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr2:228029478
GRCh38:
Chr2:227164762
COL4A3not providedLikely benign
(Mar 10, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr2:228029478
GRCh38:
Chr2:227164762
COL4A3not provided, Alport syndromeConflicting interpretations of pathogenicity
(Oct 9, 2021)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr2:228029478-228029479
GRCh38:
Chr2:227164762-227164763
COL4A3Autosomal recessive Alport syndromeUncertain significance
(Sep 12, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr2:228029481
GRCh38:
Chr2:227164765
COL4A3not providedLikely benign
(Apr 7, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr2:228029486
GRCh38:
Chr2:227164770
COL4A3P15Rnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Uncertain significance
(Mar 1, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:228029487
GRCh38:
Chr2:227164771
COL4A3not providedLikely benign
(Apr 10, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr2:228029487
GRCh38:
Chr2:227164771
COL4A3not provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr2:228029490
GRCh38:
Chr2:227164774
COL4A3not providedLikely benign
(May 30, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr2:228029490
GRCh38:
Chr2:227164774
COL4A3not providedLikely benign
(Aug 25, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr2:228029496
GRCh38:
Chr2:227164780
COL4A3not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr2:228029502
GRCh38:
Chr2:227164786
COL4A3not providedLikely benign
(Aug 4, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr2:228029502
GRCh38:
Chr2:227164786
COL4A3not providedLikely benign
(Jan 19, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr2:228029505
GRCh38:
Chr2:227164789
COL4A3not providedLikely benign
(Sep 26, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr2:228029508
GRCh38:
Chr2:227164792
COL4A3not providedLikely benign
(Jan 16, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr2:228029510
GRCh38:
Chr2:227164794
COL4A3A23fsnot providedPathogenic
(Apr 18, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr2:228029511
GRCh38:
Chr2:227164795
COL4A3not providedLikely benign
(Aug 19, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr2:228029511
GRCh38:
Chr2:227164795
COL4A3not providedLikely benign
(Jun 26, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr2:228029513
GRCh38:
Chr2:227164797
COL4A3A24GKidney disorder, Alport syndrome, not specified,
not provided
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr2:228029515
GRCh38:
Chr2:227164799
COL4A3P25SKidney disorder, not provided, not specified
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:228029517
GRCh38:
Chr2:227164801
COL4A3not providedLikely benign
(May 29, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr2:228029528
GRCh38:
Chr2:227164812
COL4A3K29Rnot specifiedUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr2:228029528
GRCh38:
Chr2:227164812
COL4A3K29Mnot providedUncertain significance
(Jul 12, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr2:228029529
GRCh38:
Chr2:227164813
COL4A3not providedUncertain significance
(Feb 13, 2020)
criteria provided, single submitter
61.
GRCh37:
Chr2:228029532
GRCh38:
Chr2:227164816
COL4A3not providedUncertain significance
(Jun 22, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr2:228029536
GRCh38:
Chr2:227164820
COL4A3not provided, Alport syndromeConflicting interpretations of pathogenicity
(Jun 23, 2022)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr2:228029537
GRCh38:
Chr2:227164821
COL4A3not providedUncertain significance
(Oct 29, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr2:228029537
GRCh38:
Chr2:227164821
COL4A3not providedLikely benign
(Sep 1, 2020)
criteria provided, single submitter
65.
GRCh37:
Chr2:228029538
GRCh38:
Chr2:227164822
COL4A3not providedLikely benign
(May 25, 2020)
criteria provided, single submitter
66.
GRCh37:
Chr2:228029539
GRCh38:
Chr2:227164823
COL4A3not providedLikely benign
(Mar 15, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr2:228096705-228104906
GRCh38:
Chr2:227231989-227240190
COL4A3, MFF-DTnot providedLikely pathogenic
(Dec 27, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr2:228102666
GRCh38:
Chr2:227237950
MFF-DT, COL4A3not providedLikely benign
(May 18, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr2:228102674
GRCh38:
Chr2:227237958
COL4A3, MFF-DTnot providedLikely benign
(Sep 12, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr2:228102680
GRCh38:
Chr2:227237964
COL4A3, MFF-DTnot specified, not provided, Alport syndrome,
Focal segmental glomerulosclerosis
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr2:228102684
GRCh38:
Chr2:227237968
MFF-DT, COL4A3G30Rnot providedLikely pathogenic
(Sep 16, 2018)
no assertion criteria provided
72.
GRCh37:
Chr2:228102686
GRCh38:
Chr2:227237970
COL4A3, MFF-DTnot providedLikely benign
(Jun 27, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr2:228102686-228102687
GRCh38:
Chr2:227237970-227237971
COL4A3, MFF-DTK34fsnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Pathogenic
(Sep 3, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr2:228102687-228102688
GRCh38:
Chr2:227237971-227237972
COL4A3, MFF-DTV32fsAutosomal recessive Alport syndromeLikely pathogenic
(Apr 29, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr2:228102692
GRCh38:
Chr2:227237976
COL4A3, MFF-DTnot providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr2:228102708
GRCh38:
Chr2:227237992
COL4A3, MFF-DTQ38EInborn genetic diseases, not provided, Alport syndrome
Conflicting interpretations of pathogenicity
(Jan 23, 2023)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr2:228102722
GRCh38:
Chr2:227238006
COL4A3, MFF-DTnot providedLikely benign
(Oct 3, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr2:228102723
GRCh38:
Chr2:227238007
COL4A3, MFF-DTG43RAlport syndrome, Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome,
Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, not specified,
not provided
Benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr2:228102731
GRCh38:
Chr2:227238015
COL4A3, MFF-DTnot providedLikely benign
(Nov 6, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr2:228102732
GRCh38:
Chr2:227238016
COL4A3, MFF-DTG46Rnot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr2:228102734
GRCh38:
Chr2:227238018
COL4A3, MFF-DTnot providedLikely benign
(Jun 18, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr2:228102736
GRCh38:
Chr2:227238020
MFF-DT, COL4A3E47Gnot providedLikely benign
(Feb 2, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr2:228102737
GRCh38:
Chr2:227238021
COL4A3, MFF-DTnot providedLikely benign
(Aug 26, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr2:228102738
GRCh38:
Chr2:227238022
COL4A3, MFF-DTK48*Autosomal dominant Alport syndromePathogenic
(May 23, 2019)
no assertion criteria provided
85.
GRCh37:
Chr2:228102741
GRCh38:
Chr2:227238025
COL4A3, MFF-DTnot providedLikely pathogenic
(Mar 19, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr2:228102743
GRCh38:
Chr2:227238027
MFF-DT, COL4A3not providedBenign
(Oct 14, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr2:228102750
GRCh38:
Chr2:227238034
COL4A3, MFF-DTnot providedLikely benign
(Aug 7, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr2:228102752
GRCh38:
Chr2:227238036
COL4A3, MFF-DTnot specified, not provided, Alport syndrome,
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
Benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr2:228102758
GRCh38:
Chr2:227238042
COL4A3, MFF-DTnot providedBenign/Likely benign
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr2:228102892-228102893
GRCh38:
Chr2:227238176-227238177
COL4A3, MFF-DTnot providedBenign
(Aug 20, 2019)
criteria provided, single submitter
91.
GRCh37:
Chr2:228102893
GRCh38:
Chr2:227238177
COL4A3, MFF-DTnot providedBenign
(Oct 20, 2019)
criteria provided, single submitter
92.
GRCh37:
Chr2:228102921
GRCh38:
Chr2:227238205
COL4A3, MFF-DTnot providedBenign
(Jul 9, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr2:228102922
GRCh38:
Chr2:227238206
COL4A3, MFF-DTnot providedBenign
(Jul 9, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr2:228104760
GRCh38:
Chr2:227240044
COL4A3, MFF-DTnot provided, Autosomal recessive Alport syndromeBenign/Likely benign
(Jun 10, 2021)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:228104843
GRCh38:
Chr2:227240127
COL4A3, MFF-DTnot providedLikely benign
(Feb 2, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr2:228104857
GRCh38:
Chr2:227240141
COL4A3, MFF-DTnot providedLikely pathogenic
(Jun 13, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr2:228104857-228104858
GRCh38:
Chr2:227240141-227240142
COL4A3, MFF-DTAutosomal recessive Alport syndromeLikely pathogenic
(May 22, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr2:228104859
GRCh38:
Chr2:227240143
COL4A3, MFF-DTG49Rnot providedUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr2:228104859
GRCh38:
Chr2:227240143
COL4A3, MFF-DTG49RAutosomal recessive Alport syndromeUncertain significance
(Apr 26, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr2:228104865
GRCh38:
Chr2:227240149
COL4A3, MFF-DTK51*Autosomal recessive Alport syndromeLikely pathogenic
(Jan 29, 2020)
criteria provided, single submitter
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