| - GRCh37:
- Chr2:181378520-225167565
- GRCh38:
- Chr2:180513793-224302848
| LOC112806071, LOC112806069, LOC112806070, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC114004367, LOC114004368, LOC115945202, LOC115947632, LOC115947633, LOC120977017, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121725108, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC122319436, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC124906109, LOC729254, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFSD6, MIR1245A, MIR1245B, MIR1302-4, MIR153-1, MIR2355, MIR26B, MIR3129, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3606, MIR375, MIR4268, MIR4437, MIR4438, MIR4775, MIR4776-1, MIR4776-2, MIR548AE1, MIR548F2, MIR561, MIR6513, MIR6809, MIR6810, MIR7845, MIR9500, MOB4, MOGAT1, MPP4, MREG, MRPL44, MSTN, MYL1, MYO1B, MYOSLID, MYOSLID-AS1, NAB1, NABP1, NABP1-OT1, NBEAL1, NCKAP1, NDUFB3, NDUFS1, NEMP2, NEMP2-DT, NEUROD1, NHEJ1, NIF3L1, NOP58, NRP2, NUP35, OBSL1, ORC2, ORMDL1, OSGEPL1, OSGEPL1-AS1, PARD3B, PAX3, PCGEM1, PDE1A, PECR, PGAP1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PMS1, PNKD, PPIL3, PPP1R1C, PRKAG3, PTH2R, PTPRN, RAPH1, RESP18, RETREG2, RFTN2, RNF25, RPE, RPL37A, RPL37A-DT, RUFY4, SATB2, SATB2-AS1, SCG2, SCHLAP1, SERPINE2, SF3B1, SGO2, SGPP2, SLC11A1, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORD11, SNORD11B, SNORD51, SNORD70, SNORD70B, SPAG16, SPAG16-DT, SPATS2L, SPEG, SPEGNB, STAT1, STAT4, STAT4-AS1, STK11IP, STK16, STK17B, STK36, STRADB, SUMO1, TFPI, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNS1, TNS1-AS1, TRAK2, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TYW5, UBE2E3, UBE2E3-DT, UNC80, USP37, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZC3H15, ZDBF2, ZFAND2B, ZNF142, ZNF804A, ZSWIM2, ABCB6, AAMP, ABCA12, ABI2, ACADL, ACSL3, ACSL3-AS1, ADAM23, ALS2, ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ANKZF1, AOX1, AP1S3, ARPC2, ASDURF, ASIC4, ASIC4-AS1, ASNSD1, ATG9A, ATIC, BARD1, BCS1L, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf80, C2orf88, CALCRL, CALCRL-AS1, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CAVIN2, CAVIN2-AS1, CCDC140, CCDC150, CCNYL1, CD28, CDK15, CDK5R2, CERKL, CFAP65, CFLAR, CFLAR-AS1, CHPF, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL3A1, COL5A2, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CXCR1, CXCR2, CYP20A1, CYP27A1, DES, DES-LCR, DIRC1, DIRC3, DIRC3-AS1, DNAH7, DNAJB2, DNAJC10, DNPEP, DNPEP-AS1, DUSP19, DYTN, EEF1B2, EPHA4, ERBB4, FAM117B, FAM171B, FAM237A, FARSB, FASTKD2, FEV, FLACC1, FN1, FN1-DT, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, FTCDNL1, FZD5, FZD7, GLB1L, GLS, GMPPA, GPBAR1, GTF3C3, GULP1, HECW2, HECW2-AS1, HIBCH, HSPD1, HSPE1, HSPE1-MOB4, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, INHA, INO80D, INPP1, ITGA4, ITGAV, ITPRID2, KANSL1L, KANSL1L-AS1, KCNE4, KCTD18, KIAA2012, KIAA2012-AS1, KLF7, LANCL1, LANCL1-AS1, LINC00607, LINC00608, LINC01090, LINC01280, LINC01473, LINC01494, LINC01614, LINC01790, LINC01792, LINC01802, LINC01803, LINC01821, LINC01827, LINC01857, LINC01877, LINC01878, LINC01921, LINC01923, LINC01934, LINC01953, LINC01963, LINC02832, LINC02862, LOC100129175, LOC100130452, LOC100507443, LOC101927960, LOC102724849, LOC105373780, LOC105373782, LOC105373876, LOC107980445, LOC108178994, LOC108254675, LOC108281145, LOC108281167, LOC108353821, LOC110121128, LOC110121148, LOC110121169, LOC110121204, LOC110121267, LOC111413021, LOC111501760, LOC111828511, LOC111828512, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068 | | See cases | Pathogenic (Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr2:189682921-243007359
- GRCh38:
- Chr2:188818195-242065208
| AAMP, ABCA12, ABCB6, ABI2, ACADL, ACKR3, ACSL3, ACSL3-AS1, ADAM23, AGAP1, AGAP1-IT1, AGFG1, AGXT, ALPG, ALPI, ALPP, ALS2, ANKAR, ANKMY1, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ANKZF1, ANO7, AOX1, AP1S3, AQP12A, AQP12B, ARL4C, ARMC9, ARPC2, ASB1, ASB18, ASDURF, ASIC4, ASIC4-AS1, ASNSD1, ATG16L1, ATG4B, ATG9A, ATIC, B3GNT7, BOLL, BARD1, BCS1L, BMPR2, BOK, BOK-AS1, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf72, C2orf80, C2orf83, C2orf88, CAB39, CAPN10, CAPN10-DT, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CAVIN2, CAVIN2-AS1, CCDC140, CCDC150, CCDC195, CCL20, CCNYL1, CD28, CDK15, CDK5R2, CFAP65, CFLAR, CFLAR-AS1, CHPF, CHRND, CHRNG, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COPS7B, COPS8, COPS9, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CROCC2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CUL3, CXCR1, CXCR2, CYP20A1, CYP27A1, D2HGDH, DAW1, DES, DES-LCR, DGKD, DIRC3, DIRC3-AS1, DIS3L2, DNAH7, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DTYMK, DUSP28, DYTN, ECEL1, EEF1B2, EFHD1, EIF4E2, EPHA4, ERBB4, ERFE, ESPNL, FAM117B, FAM124B, FAM237A, FAM240C, FARP2, FARSB, FASTKD2, FBXO36, FEV, FLACC1, FN1, FN1-DT, FTCDNL1, FZD5, FZD7, GAL3ST2, GBX2, GCSIR, GIGYF2, GLB1L, GLS, GMPPA, GPBAR1, GPC1, GPC1-AS1, GPR35, GPR55, GTF3C3, HDAC4, HDAC4-AS1, HDLBP, HDLBP-AS1, HECW2, HECW2-AS1, HES6, HIBCH, HJURP, HSPD1, HSPE1, HSPE1-MOB4, HTR2B, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, ILKAP, ING5, INHA, INO80D, INPP1, INPP5D, IQCA1, IQCA1-AS1, IRS1, ITM2C, KANSL1L, KANSL1L-AS1, KCNE4, KCNJ13, KCTD18, KIAA2012, KIAA2012-AS1, KIF1A, KLF7, KLHL30, LANCL1, LANCL1-AS1, LINC00471, LINC00607, LINC00608, LINC01107, LINC01173, LINC01237, LINC01238, LINC01280, LINC01494, LINC01614, LINC01790, LINC01792, LINC01802, LINC01803, LINC01807, LINC01821, LINC01827, LINC01857, LINC01877, LINC01878, LINC01880, LINC01891, LINC01907, LINC01921, LINC01923, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LINC02862, LINC02991, LOC100128563, LOC100129175, LOC100130452, LOC100287387, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC105373876, LOC106783501, LOC107980445, LOC108178994, LOC108254675, LOC108281167, LOC108348027, LOC108353814, LOC108353815, LOC108353821, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121148, LOC110121169, LOC110121201, LOC110121204, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110121267, LOC110599582, LOC111413021, LOC111501760, LOC111501790, LOC111828511, LOC111828512, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC112840904, LOC112840905, LOC112840906, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC114004367, LOC114004368, LOC114004369, LOC115945202, LOC115947632, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC115947637, LOC115947638, LOC115947639, LOC115947640, LOC120977017, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121009633, LOC121009634, LOC121009635, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC121725125, LOC121725126, LOC122319436, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC122861302, LOC122861303, LOC122861304, LOC122861305, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC122861311, LOC122861312, LOC122861313, LOC122861314, LOC122861315, LOC122861316, LOC122861317, LOC122861318, LOC122861319, LOC122861320, LOC122889004, LOC122889005, LOC122889006, LOC122889007, LOC122889008, LOC122889009, LOC122889010, LOC122889011, LOC122889012, LOC122889013, LOC122889014, LOC122889015, LOC122889016, LOC124906109, LOC150935, LOC285097, LOC285191, LOC646736, LOC729254, LOC729968, LOC93463, LRRFIP1, MAB21L4, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFF, MFF-DT, MFSD6, MGC16025, MIR1244-1, MIR1245A, MIR1245B, MIR1302-4, MIR1471, MIR149, MIR153-1, MIR2355, MIR2467, MIR26B, MIR3129, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3133, MIR3606, MIR375, MIR4268, MIR4269, MIR4438, MIR4439, MIR4440, MIR4441, MIR4775, MIR4776-1, MIR4776-2, MIR4777, MIR4786, MIR5001, MIR548F2, MIR562, MIR5702, MIR5703, MIR6513, MIR6809, MIR6810, MIR6811, MIR7845, MIR9500, MLPH, MOB4, MOGAT1, MPP4, MREG, MROH2A, MRPL44, MSTN, MTERF4, MYL1, MYO1B, MYOSLID, MYOSLID-AS1, NAB1, NABP1, NABP1-OT1, NBEAL1, NCL, NDUFA10, NDUFB3, NDUFS1, NEMP2, NEMP2-DT, NEU2, NEU4, NGEF, NHEJ1, NIF3L1, NMUR1, NOP58, NPPC, NRP2, NYAP2, OBSL1, OR6B2, OR6B3, ORC2, ORMDL1, OSGEPL1, OSGEPL1-AS1, OTOS, PARD3B, PASK, PAX3, PCGEM1, PDCD1, PDE6D, PECR, PER2, PGAP1, PID1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PMS1, PNKD, PPIL3, PPP1R7, PRKAG3, PRLH, PRR21, PRSS56, PSMD1, PTH2R, PTMA, PTPRN, RAB17, RAB17-DT, RAMP1, RAPH1, RBM44, RESP18, RETREG2, RFTN2, RHBDD1, RNF25, RNPEPL1, RPE, RPL37A, RPL37A-DT, RTP5, RUFY4, SAG, SATB2, SATB2-AS1, SCARNA5, SCARNA6, SCG2, SCLY, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SEPTIN2, SERPINE2, SF3B1, SGO2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SNED1, SNED1-AS1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORA75, SNORC, SNORD11, SNORD11B, SNORD20, SNORD51, SNORD70, SNORD70B, SNORD82, SP100, SP110, SP140, SP140L, SPAG16, SPAG16-DT, SPATA3, SPATA3-AS1, SPATS2L, SPEG, SPEGNB, SPHKAP, SPP2, STAT1, STAT4, STAT4-AS1, STK11IP, STK16, STK17B, STK25, STK36, STRADB, SUMO1, TEX44, THAP4, TIGD1, TM4SF20, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNRC17, TNS1, TNS1-AS1, TRAF3IP1, TRAK2, TRIP12, TRPM8, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TWIST2, TYW5, UBE2F, UBE2F-SCLY, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UICLM, UNC80, USP37, USP40, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZDBF2, ZFAND2B, ZNF142 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:190300875-242783384
- GRCh38:
- Chr2:189436149-241841232
| 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, COPS9, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CROCC2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CUL3, CXCR1, CXCR2, CYP20A1, CYP27A1, D2HGDH, DAW1, DES, DES-LCR, DGKD, DIRC3, DIRC3-AS1, DIS3L2, DNAH7, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DTYMK, DUSP28, DYTN, ECEL1, EEF1B2, EFHD1, EIF4E2, EPHA4, ERBB4, ERFE, ESPNL, FAM117B, FAM124B, FAM237A, FARP2, FARSB, FASTKD2, FBXO36, FEV, FLACC1, FN1, FN1-DT, FTCDNL1, FZD5, FZD7, GAL3ST2, GBX2, GCSIR, GIGYF2, GLB1L, GLS, GMPPA, GPBAR1, GPC1, GPC1-AS1, GPR35, GPR55, GTF3C3, HDAC4, HDAC4-AS1, HDLBP, HDLBP-AS1, HECW2, HECW2-AS1, HES6, HIBCH, HJURP, HSPD1, HSPE1, HSPE1-MOB4, HTR2B, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, ILKAP, ING5, INHA, INO80D, INPP1, INPP5D, IQCA1, IQCA1-AS1, IRS1, ITM2C, KANSL1L, KANSL1L-AS1, KCNE4, KCNJ13, KCTD18, KIAA2012, KIAA2012-AS1, KIF1A, KLF7, KLHL30, LANCL1, LANCL1-AS1, LINC00471, LINC00607, LINC00608, LINC01107, LINC01173, LINC01280, LINC01494, LINC01614, LINC01790, LINC01792, LINC01802, LINC01803, LINC01807, LINC01821, LINC01827, LINC01857, LINC01877, LINC01878, LINC01891, LINC01907, LINC01921, LINC01923, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LINC02862, LINC02991, LOC100128563, LOC100129175, LOC100130452, LOC100287387, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC105373876, LOC106783501, LOC107980445, LOC108178994, LOC108254675, LOC108281167, LOC108348027, LOC108353814, LOC108353815, LOC108353821, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121148, LOC110121169, LOC110121201, LOC110121204, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110121267, LOC110599582, LOC111413021, LOC111501760, LOC111501790, LOC111828511, LOC111828512, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC112840904, LOC112840905, LOC112840906, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC114004367, LOC114004368, LOC114004369, LOC115945202, LOC115947632, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC115947637, LOC115947638, LOC115947639, LOC115947640, LOC120977017, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121009633, LOC121009634, LOC121009635, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC121725125, LOC121725126, LOC122319436, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC122861302, LOC122861303, LOC122861304, LOC122861305, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC122861311, LOC122861312, LOC122861313, LOC122861314, LOC122861315, LOC122861316, LOC122861317, LOC122861318, LOC122861319, LOC122861320, LOC122889004, LOC122889005, LOC122889006, LOC122889007, LOC122889008, LOC122889009, LOC122889010, LOC122889011, LOC122889012, LOC122889013, LOC122889014, LOC124906109, 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, NABP1-OT1, NBEAL1, NCL, NDUFA10, NDUFB3, NDUFS1, NEMP2, NEMP2-DT, NEU2, NEU4, NGEF, NHEJ1, NIF3L1, NMUR1, NOP58, NPPC, NRP2, NYAP2, OBSL1, OR6B2, OR6B3, ORC2, ORMDL1, OSGEPL1, OSGEPL1-AS1, OTOS, PARD3B, PASK, PAX3, PCGEM1, PDE6D, PECR, PER2, PGAP1, PID1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PMS1, PNKD, PPIL3, PPP1R7, PRKAG3, PRLH, PRR21, PRSS56, PSMD1, PTH2R, PTMA, PTPRN, RAB17, RAB17-DT, RAMP1, RAPH1, RBM44, RESP18, RETREG2, RFTN2, RHBDD1, RNF25, RNPEPL1, RPE, RPL37A, RPL37A-DT, RUFY4, SAG, SATB2, SATB2-AS1, SCARNA5, SCARNA6, SCG2, SCLY, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SEPTIN2, SERPINE2, SF3B1, SGO2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SNED1, SNED1-AS1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORA75, SNORC, SNORD11, SNORD11B, SNORD20, SNORD51, SNORD70, SNORD70B, SNORD82, SP100, SP110, SP140, SP140L, SPAG16, SPAG16-DT, SPATA3, SPATA3-AS1, SPATS2L, SPEG, SPEGNB, SPHKAP, SPP2, STAT1, STAT4, STAT4-AS1, STK11IP, STK16, STK17B, STK25, STK36, STRADB, SUMO1, TEX44, THAP4, TIGD1, TM4SF20, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNRC17, TNS1, TNS1-AS1, TRAF3IP1, TRAK2, TRIP12, TRPM8, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TWIST2, TYW5, UBE2F, UBE2F-SCLY, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UICLM, UNC80, USP37, USP40, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZDBF2, ZFAND2B, ZNF142 | | See cases | Pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr2:191175462-242834921
- GRCh38:
- Chr2:190310736-241892770
| 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, BOLL, BARD1, BCS1L, BMPR2, BOK, BOK-AS1, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf72, C2orf80, C2orf83, CAB39, CAPN10, CAPN10-DT, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CAVIN2, CAVIN2-AS1, CCDC140, CCDC150, CCDC195, CCL20, CCNYL1, CD28, CDK15, CDK5R2, CFAP65, CFLAR, CFLAR-AS1, CHPF, CHRND, CHRNG, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL4A3, COL4A4, COL6A3, COPS7B, COPS8, COPS9, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CROCC2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CUL3, CXCR1, CXCR2, CYP20A1, CYP27A1, D2HGDH, DAW1, DES, DES-LCR, DGKD, DIRC3, DIRC3-AS1, DIS3L2, DNAH7, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DTYMK, DUSP28, DYTN, ECEL1, EEF1B2, EFHD1, EIF4E2, EPHA4, ERBB4, ERFE, ESPNL, FAM117B, FAM124B, FAM237A, FARP2, FARSB, FASTKD2, FBXO36, FEV, FLACC1, FN1, FN1-DT, FTCDNL1, FZD5, FZD7, GAL3ST2, GBX2, GCSIR, GIGYF2, GLB1L, GLS, GMPPA, GPBAR1, GPC1, GPC1-AS1, GPR35, GPR55, GTF3C3, HDAC4, HDAC4-AS1, HDLBP, HDLBP-AS1, HECW2, HECW2-AS1, HES6, HIBCH, HJURP, HSPD1, HSPE1, HSPE1-MOB4, HTR2B, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, ILKAP, ING5, INHA, INO80D, INPP1, INPP5D, IQCA1, IQCA1-AS1, IRS1, ITM2C, KANSL1L, KANSL1L-AS1, KCNE4, KCNJ13, KCTD18, KIAA2012, KIAA2012-AS1, KIF1A, KLF7, KLHL30, LANCL1, LANCL1-AS1, LINC00471, LINC00607, LINC00608, LINC01107, LINC01173, LINC01237, LINC01280, LINC01494, LINC01614, LINC01790, LINC01792, LINC01802, LINC01803, LINC01807, LINC01821, LINC01827, LINC01857, LINC01877, LINC01878, LINC01891, LINC01907, LINC01921, LINC01923, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LINC02862, LINC02991, LOC100128563, LOC100129175, LOC100130452, LOC100287387, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC105373876, LOC106783501, LOC107980445, LOC108178994, LOC108254675, LOC108281167, LOC108348027, LOC108353814, LOC108353815, LOC108353821, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121148, LOC110121169, LOC110121201, LOC110121204, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110121267, LOC110599582, LOC111413021, LOC111501760, LOC111501790, LOC111828511, LOC111828512, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC112840904, LOC112840905, LOC112840906, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC114004367, LOC114004368, LOC114004369, LOC115945202, LOC115947632, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC115947637, LOC115947638, LOC115947639, LOC115947640, LOC120977017, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121009633, LOC121009634, LOC121009635, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC121725125, LOC121725126, LOC122319436, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC122861302, LOC122861303, LOC122861304, LOC122861305, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC122861311, LOC122861312, LOC122861313, LOC122861314, LOC122861315, LOC122861316, LOC122861317, LOC122861318, LOC122861319, LOC122861320, LOC122889004, LOC122889005, LOC122889006, LOC122889007, LOC122889008, LOC122889009, LOC122889010, LOC122889011, LOC122889012, LOC122889013, LOC122889014, LOC122889015, LOC124906109, LOC150935, LOC285191, LOC646736, LOC729254, LOC729968, LOC93463, LRRFIP1, MAB21L4, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFF, MFF-DT, MFSD6, MGC16025, MIR1244-1, MIR1302-4, MIR1471, MIR149, MIR153-1, MIR2355, MIR2467, MIR26B, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3133, MIR375, MIR4268, MIR4269, MIR4438, MIR4439, MIR4440, MIR4441, MIR4775, MIR4776-1, MIR4776-2, MIR4777, MIR4786, MIR5001, MIR548F2, MIR562, MIR5702, MIR5703, MIR6513, MIR6809, MIR6810, MIR6811, MIR7845, MIR9500, MLPH, MOB4, MOGAT1, MPP4, MREG, MROH2A, MRPL44, MTERF4, MYL1, MYO1B, MYOSLID, MYOSLID-AS1, NAB1, NABP1, NABP1-OT1, NBEAL1, NCL, NDUFA10, NDUFB3, NDUFS1, NEMP2, NEMP2-DT, NEU2, NEU4, NGEF, NHEJ1, NIF3L1, NMUR1, NOP58, NPPC, NRP2, NYAP2, OBSL1, OR6B2, OR6B3, ORC2, OTOS, PARD3B, PASK, PAX3, PCGEM1, PDCD1, PDE6D, PECR, PER2, PGAP1, PID1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PNKD, PPIL3, PPP1R7, PRKAG3, PRLH, PRR21, PRSS56, PSMD1, PTH2R, PTMA, PTPRN, RAB17, RAB17-DT, RAMP1, RAPH1, RBM44, RESP18, RETREG2, RFTN2, RHBDD1, RNF25, RNPEPL1, RPE, RPL37A, RPL37A-DT, RTP5, RUFY4, SAG, SATB2, SATB2-AS1, SCARNA5, SCARNA6, SCG2, SCLY, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SEPTIN2, SERPINE2, SF3B1, SGO2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC39A10, SLC4A3, SMARCAL1, SNED1, SNED1-AS1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORA75, SNORC, SNORD11, SNORD11B, SNORD20, SNORD51, SNORD70, SNORD70B, SNORD82, SP100, SP110, SP140, SP140L, SPAG16, SPAG16-DT, SPATA3, SPATA3-AS1, SPATS2L, SPEG, SPEGNB, SPHKAP, SPP2, STAT1, STAT4, STAT4-AS1, STK11IP, STK16, STK17B, STK25, STK36, STRADB, SUMO1, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:195763507-237382556
- GRCh38:
- Chr2:194898783-236473913
| LINC01857, LINC01877, LINC01878, LINC01891, LINC01907, LINC01921, LINC01923, LINC01953, LINC01963, LINC02832, LINC02862, LOC100129175, LOC100130452, LOC100507443, LOC101927960, LOC101928881, LOC102724849, LOC105373876, LOC107980445, LOC108178994, LOC108254675, LOC108281167, LOC108348027, LOC108353814, LOC108353815, LOC108353821, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121148, LOC110121169, LOC110121204, LOC110121267, LOC111413021, LOC111501760, LOC111828511, LOC111828512, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC112840904, LOC112840905, LOC112840906, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC114004367, LOC114004368, LOC114004369, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC122319436, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC122861302, LOC122861303, LOC122861304, LOC122861305, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC122861311, LOC122861312, LOC122861313, LOC122861314, LOC122861315, LOC122861316, LOC122861317, LOC122861318, LOC122861319, LOC122861320, LOC122889004, LOC122889005, LOC122889006, LOC122889007, LOC122889008, LOC122889009, 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, TEX44, TIGD1, TM4SF20, TMBIM1, TMEM169, TMEM198, TMEM237, TNP1, TNRC17, TNS1, TNS1-AS1, TRAK2, TRIP12, TRPM8, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TYW5, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC80, USP37, USP40, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WNT10A, WNT6, XRCC5, ZDBF2, ZFAND2B, ZNF142, AAMP, ABCA12, ABCB6, ABI2, ACADL, ACSL3, ACSL3-AS1, ADAM23, AGAP1, AGAP1-IT1, AGFG1, ALPG, ALPI, ALPP, ALS2, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ANKZF1, AOX1, AP1S3, ARL4C, ARMC9, ARPC2, ASB18, ASIC4, ASIC4-AS1, ATG16L1, ATG9A, ATIC, B3GNT7, BARD1, BCS1L, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf72, C2orf80, C2orf83, CAB39, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CCDC140, CCDC150, CCDC195, CCL20, CCNYL1, CD28, CDK15, CDK5R2, CFAP65, CFLAR, CFLAR-AS1, CHPF, CHRND, CHRNG, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL4A3, COL4A4, COPS7B, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CUL3, CXCR1, CXCR2, CYP20A1, CYP27A1, DAW1, DES, DES-LCR, DGKD, DIRC3, DIRC3-AS1, DIS3L2, DNAH7, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DYTN, ECEL1, EEF1B2, EFHD1, EIF4E2, EPHA4, ERBB4, FAM117B, FAM124B, FAM237A, FARSB, FASTKD2, FBXO36, FEV, FLACC1, FN1, FN1-DT, FTCDNL1, FZD5, FZD7, GBX2, GCSIR, GIGYF2, GLB1L, GMPPA, GPBAR1, GPR55, GTF3C3, HECW2, HECW2-AS1, HJURP, HSPD1, HSPE1, HSPE1-MOB4, HTR2B, HYCC2, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, INHA, INO80D, INPP5D, IQCA1, IQCA1-AS1, IRS1, ITM2C, KANSL1L, KANSL1L-AS1, KCNE4, KCNJ13, KCTD18, KIAA2012, KIAA2012-AS1, KLF7, LANCL1, LANCL1-AS1, LINC00471, LINC00607, LINC00608, LINC01173, LINC01280, LINC01494, LINC01614, LINC01792, LINC01802, LINC01803, LINC01807, LINC01827 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:211444400-243059659
- GRCh38:
- Chr2:210579676-242126245
| 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, 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, 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, LINC01921, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LINC02862, LINC02991, LOC100128563, LOC100129175, LOC100287387, LOC101928881, LOC102724849, LOC105373876, 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, LOC115947640, 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, LOC150935, LOC285097, LOC285191, LOC646736, LOC729968, LOC93463, LRRFIP1, MAB21L4, MARCHF4, MFF, MFF-DT, MGC16025, MIR1244-1, MIR1471, MIR149, MIR153-1, MIR2467, MIR26B, MIR3131, MIR3132, MIR3133, MIR375 | | See cases | Pathogenic (Aug 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:218966482-243059659
- GRCh38:
- Chr2:218101759-242126245
| 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, 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, LOC100128563, LOC100129175, LOC100287387, LOC101928881, 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, LOC115947640, 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, 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, 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 | | See cases | Pathogenic (Feb 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:219524306
- GRCh38:
- Chr2:218659583
| BCS1L, ZNF142 | | not provided | Benign (Apr 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219524431
- GRCh38:
- Chr2:218659708
| BCS1L | | GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome
| Uncertain significance (Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219524463
- GRCh38:
- Chr2:218659740
| BCS1L | | GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
| Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219524467
- GRCh38:
- Chr2:218659744
| BCS1L | | GRACILE syndrome | Uncertain significance (Jan 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219524467
- GRCh38:
- Chr2:218659744
| BCS1L | | GRACILE syndrome | Uncertain significance (Nov 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219524468
- GRCh38:
- Chr2:218659745
| BCS1L | | GRACILE syndrome | Uncertain significance (Jan 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219524473
- GRCh38:
- Chr2:218659750
| BCS1L | | not provided | Likely benign (Apr 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219524479
- GRCh38:
- Chr2:218659756
| BCS1L | | not specified | Benign (Jul 6, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219524748
- GRCh38:
- Chr2:218660025
| BCS1L | | not specified | Likely benign (Oct 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219524846
- GRCh38:
- Chr2:218660123
| BCS1L | | GRACILE syndrome | Uncertain significance (Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219524854
- GRCh38:
- Chr2:218660131
| BCS1L | | GRACILE syndrome | Likely pathogenic (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219524871
- GRCh38:
- Chr2:218660148
| BCS1L | | not provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
| Conflicting interpretations of pathogenicity (Jun 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219524891
- GRCh38:
- Chr2:218660168
| BCS1L | | GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
| Uncertain significance (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219524924
- GRCh38:
- Chr2:218660201
| BCS1L | | Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525007
- GRCh38:
- Chr2:218660284
| BCS1L | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525021
- GRCh38:
- Chr2:218660298
| BCS1L | | not provided | Likely benign (Jul 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525029
- GRCh38:
- Chr2:218660306
| BCS1L | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525067
- GRCh38:
- Chr2:218660344
| BCS1L | | not provided | Likely benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525123
- GRCh38:
- Chr2:218660400
| BCS1L | | GRACILE syndrome | Uncertain significance (Jun 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525132
- GRCh38:
- Chr2:218660409
| BCS1L | | not provided | Likely benign (Jul 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525227
- GRCh38:
- Chr2:218660504
| BCS1L | | not provided | Likely benign (Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525272
- GRCh38:
- Chr2:218660549
| BCS1L | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525335
- GRCh38:
- Chr2:218660612
| BCS1L | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525582
- GRCh38:
- Chr2:218660859
| BCS1L | | not provided | Benign (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525650
- GRCh38:
- Chr2:218660927
| BCS1L | | not provided | Uncertain significance (Oct 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525668
- GRCh38:
- Chr2:218660945
| BCS1L | | Leigh syndrome, GRACILE syndrome, not specified, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525697
- GRCh38:
- Chr2:218660974
| BCS1L | | GRACILE syndrome, not specified, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525711
- GRCh38:
- Chr2:218660988
| BCS1L | M1V | not provided | Pathogenic (Aug 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525715
- GRCh38:
- Chr2:218660992
| BCS1L | P2L | not provided | Uncertain significance (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525721
- GRCh38:
- Chr2:218660998
| BCS1L | S4L | not provided | Uncertain significance (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525731
- GRCh38:
- Chr2:218661008
| BCS1L | | not provided | Likely benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525734
- GRCh38:
- Chr2:218661011
| BCS1L | | not provided | Likely benign (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525763
- GRCh38:
- Chr2:218661040
| BCS1L | A18fs | GRACILE syndrome | Likely pathogenic (Nov 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525764
- GRCh38:
- Chr2:218661041
| BCS1L | | not provided | Likely benign (Dec 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525774
- GRCh38:
- Chr2:218661051
| BCS1L | | not provided | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525793
- GRCh38:
- Chr2:218661070
| BCS1L | A28V | not provided | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525805
- GRCh38:
- Chr2:218661082
| BCS1L | A32V | Inborn genetic diseases | Uncertain significance (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525806
- GRCh38:
- Chr2:218661083
| BCS1L | | not provided | Likely benign (Sep 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525811
- GRCh38:
- Chr2:218661088
| BCS1L | K34R | not provided | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525813
- GRCh38:
- Chr2:218661090
| BCS1L | G35R | Bjornstad syndrome with mild mitochondrial complex III deficiency | Pathogenic (Feb 22, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr2:219525821
- GRCh38:
- Chr2:218661098
| BCS1L | | not provided | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525822
- GRCh38:
- Chr2:218661099
| BCS1L | | not provided | Likely benign (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525822
- GRCh38:
- Chr2:218661099
| BCS1L | L38V | GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525828
- GRCh38:
- Chr2:218661105
| BCS1L | | not provided | Likely benign (Sep 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525836
- GRCh38:
- Chr2:218661113
| BCS1L | | not provided, Leigh syndrome, GRACILE syndrome, not specified, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525840
- GRCh38:
- Chr2:218661117
| BCS1L | R44W | not provided | Uncertain significance (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525843
- GRCh38:
- Chr2:218661120
| BCS1L | R45C | not provided | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525844
- GRCh38:
- Chr2:218661121
| BCS1L | R45H | not provided, Pili torti-deafness syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity (Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525852
- GRCh38:
- Chr2:218661129
| BCS1L | M48V | not specified, GRACILE syndrome, not provided
| Conflicting interpretations of pathogenicity (Jul 31, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525857
- GRCh38:
- Chr2:218661134
| BCS1L | | not provided | Likely benign (Sep 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525858
- GRCh38:
- Chr2:218661135
| BCS1L | T50A | Mitochondrial complex III deficiency nuclear type 1 | Pathogenic (Feb 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr2:219525860
- GRCh38:
- Chr2:218661137
| BCS1L | | not provided | Likely benign (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525863
- GRCh38:
- Chr2:218661140
| BCS1L | | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525869
- GRCh38:
- Chr2:218661146
| BCS1L | | not provided | Likely benign (Jun 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525876
- GRCh38:
- Chr2:218661153
| BCS1L | R56* | BCS1L-Related Disorders, not provided, Leigh syndrome, Pili torti-deafness syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, See cases
| Pathogenic (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525880
- GRCh38:
- Chr2:218661157
| BCS1L | D57G | Mitochondrial complex III deficiency nuclear type 1 | Likely pathogenic (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525881
- GRCh38:
- Chr2:218661158
| BCS1L | | not specified, Leigh syndrome, not provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525890
- GRCh38:
- Chr2:218661167
| BCS1L | | not provided | Likely benign (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525893
- GRCh38:
- Chr2:218661170
| BCS1L | | not provided | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525896
- GRCh38:
- Chr2:218661173
| BCS1L | W62C | not provided | Uncertain significance (Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525903
- GRCh38:
- Chr2:218661180
| BCS1L | S65R | not specified, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, Pili torti-deafness syndrome | Uncertain significance (Jan 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525911
- GRCh38:
- Chr2:218661188
| BCS1L | | not provided, Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525914
- GRCh38:
- Chr2:218661191
| BCS1L | | not provided | Likely benign (Nov 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525915
- GRCh38:
- Chr2:218661192
| BCS1L | R69C | Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, Inborn genetic diseases, not provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity (Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525916
- GRCh38:
- Chr2:218661193
| BCS1L | R69H | not provided, Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome, GRACILE syndrome | Uncertain significance (Feb 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525919
- GRCh38:
- Chr2:218661196
| BCS1L | H70R | not provided | Uncertain significance (Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525920
- GRCh38:
- Chr2:218661197
| BCS1L | | not provided | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525925
- GRCh38:
- Chr2:218661202
| BCS1L | R73fs | not provided | Pathogenic (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525926
- GRCh38:
- Chr2:218661203
| BCS1L | | not provided | Likely benign (Jun 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525927
- GRCh38:
- Chr2:218661204
| BCS1L | R73G | not provided | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525927
- GRCh38:
- Chr2:218661204
| BCS1L | R73C | GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, not provided
| Conflicting interpretations of pathogenicity (Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525928
- GRCh38:
- Chr2:218661205
| BCS1L | R73H | not provided | Uncertain significance (Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525935
- GRCh38:
- Chr2:218661212
| BCS1L | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance (Nov 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525942
- GRCh38:
- Chr2:218661219
| BCS1L | S78G | Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, Pili torti-deafness syndrome, not provided, GRACILE syndrome | Pathogenic (Dec 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525943
- GRCh38:
- Chr2:218661220
| BCS1L | S78I | not provided | Likely pathogenic (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525947
- GRCh38:
- Chr2:218661224
| BCS1L | | not provided | Likely benign (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525948
- GRCh38:
- Chr2:218661225
| BCS1L | E80* | not provided | Pathogenic (Jun 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525953
- GRCh38:
- Chr2:218661230
| BCS1L | | not provided | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525953
- GRCh38:
- Chr2:218661230
| BCS1L | | not provided | Likely benign (Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525955
- GRCh38:
- Chr2:218661232
| BCS1L | S82* | not provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
| Pathogenic/Likely pathogenic (Sep 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525956
- GRCh38:
- Chr2:218661233
| BCS1L | | not provided | Likely benign (Aug 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525963
- GRCh38:
- Chr2:218661240
| BCS1L | Q85* | not provided | Pathogenic (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525963-219525965
- GRCh38:
- Chr2:218661240-218661242
| BCS1L | Q85del | not provided, GRACILE syndrome | Uncertain significance (Jan 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525968
- GRCh38:
- Chr2:218661245
| BCS1L | | GRACILE syndrome, not provided, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity (Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525978
- GRCh38:
- Chr2:218661255
| BCS1L | R90C | not provided, Mitochondrial complex III deficiency nuclear type 1, Intellectual disability
| Conflicting interpretations of pathogenicity (Oct 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525979
- GRCh38:
- Chr2:218661256
| BCS1L | R90H | not provided, Mitochondrial complex III deficiency nuclear type 1 | Likely pathogenic (Dec 12, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525990-219525991
- GRCh38:
- Chr2:218661267-218661268
| BCS1L | K94fs | not provided | Pathogenic (Oct 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525995
- GRCh38:
- Chr2:218661272
| BCS1L | | not provided | Likely benign (Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526000-219526002
- GRCh38:
- Chr2:218661277-218661279
| BCS1L | V98del | GRACILE syndrome | Uncertain significance (Nov 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526001
- GRCh38:
- Chr2:218661278
| BCS1L | | not provided | Likely benign (Oct 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526005
- GRCh38:
- Chr2:218661282
| BCS1L | P99S | not provided | Likely pathogenic (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526006
- GRCh38:
- Chr2:218661283
| BCS1L | P99L | not provided, GRACILE syndrome | Pathogenic/Likely pathogenic (Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526013
- GRCh38:
- Chr2:218661290
| BCS1L | | not provided | Likely benign (Oct 4, 2022) | criteria provided, single submitter |