| - GRCh37:
- Chr6:156974-46757028
- GRCh38:
- Chr6:156974-46789291
| LOC110121246, LOC110121247, LOC110121274, LOC110599562, LOC110631417, LOC111365167, LOC111365181, LOC111429610, LOC111429615, LOC111501776, LOC111556163, LOC111591500, LOC111721708, LOC111721709, LOC111828527, LOC111828528, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113146424, LOC113146425, LOC113174970, LOC113174974, LOC113174975, LOC113174976, LOC113174977, LOC113174978, LOC113174981, LOC113174982, LOC113174983, LOC113174984, LOC113174985, LOC113174986, LOC113174987, LOC113174995, LOC113174996, LOC113174988, LOC113174989, LOC113174991, LOC113174992, LOC113174993, LOC113174997, LOC113174998, LOC113174999, LOC113175000, LOC113175001, LOC113175002, LOC113175003, LOC113175004, LOC113175005, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114004399, LOC114004400, LOC114827825, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC116158540, LOC116158541, LOC116158542, LOC116158543, LOC116158544, LOC116158545, LOC116158546, LOC116158547, LOC116158548, LOC116158549, LOC116158550, LOC116158551, LOC116158552, LOC116183041, LOC116183042, LOC116183043, LOC116183044, LOC116183045, LOC116183046, LOC116183047, LOC116183048, LOC116183049, LOC116183050, LOC116183051, LOC116183052, LOC116183053, LOC116183054, LOC116183055, LOC116183056, LOC116183057, LOC116183058, LOC116183059, LOC116183060, LOC116183061, LOC116183062, LOC116183063, LOC120285838, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121113499, LOC121132669, LOC121132670, LOC121132671, LOC121132672, LOC121132673, LOC121132674, LOC121132675, LOC121132676, LOC121132677, LOC121132678, LOC121132679, LOC121132680, LOC121132681, LOC121132682, LOC121132683, LOC121132684, LOC121132685, LOC121132686, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, LOC121740643, LOC121740644, LOC121740645, LOC121740646, LOC121740647, LOC121740648, LOC123575642, LOC123575643, LOC123575644, LOC123575645, LOC123575646, LOC123575647, LOC123575648, LOC123575649, LOC123575650, LOC123575651, LOC123575652, LOC123575653, LOC123575654, LOC123575655, LOC123575656, LOC123575657, LOC123575658, LOC123575659, LOC123575660, LOC123575661, LOC123575662, LOC123575663, LOC123575664, LOC123575665, LOC123575666, LOC123575667, LOC123575668, LOC123575669, LOC123575670, LOC123575671, LOC123575672, LOC123575673, LOC123575674, LOC123575675, LOC123575676, LOC123575677, LOC123575678, LOC123575679, LOC123575680, LOC123620059, LOC123620060, LOC123620061, LOC123620062, LOC123620063, LOC123620064, LOC123620065, LOC123620066, LOC123620067, LOC123620068, LOC123620069, LOC123620070, LOC123620071, LOC123620072, LOC123620073, LOC123620074, LOC123620075, LOC123620076, LOC123620077, LOC123620078, LOC123620079, LOC123620080, LOC123620081, LOC123620082, LOC123620083, LOC123620084, LOC123620085, LOC123620086, LOC123620087, LOC123620088, LOC123620089, LOC123620090, LOC123620091, LOC123620092, LOC123620093, LOC123620094, LOC123620095, LOC123620096, LOC123620097, LOC123620098, LOC123620099, LOC123620100, LOC123620101, LOC123620102, LOC123620103, LOC123620104, LOC123620105, LOC123620106, LOC123620107, LOC123620108, LOC123620109, LOC123620110, LOC123620111, LOC123620112, LOC123620113, LOC123620114, LOC123620115, LOC123620116, LOC123620117, LOC123620118, LOC123620119, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC123744813, LOC123744814, LOC126088086, LOC126088087, LOC126088088, LOC126859546, LOC126859547, LOC126859548, LOC126859549, LOC126859550, LOC126859551, LOC126859552, LOC126859553, LOC126859554, LOC126859555, LOC126859556, LOC126859557, LOC126859558, LOC126859559, LOC126859560, LOC126859561, LOC126859562, LOC126859563, LOC126859564, LOC126859565, LOC126859566, LOC126859567, LOC126859568, LOC126859569, LOC126859570, LOC126859571, LOC126859572, LOC126859573, LOC126859574, LOC126859575, LOC126859576, LOC126859577, LOC126859578, LOC126859579, LOC126859580, LOC126859581, LOC126859582, LOC126859583, LOC126859584, LOC126859585, LOC126859586, LOC126859587, LOC126859588, LOC126859589, LOC126859590, LOC126859591, LOC126859592, LOC126859593, LOC126859594, LOC126859595, LOC126859596, LOC126859597, LOC126859598, LOC126859599, LOC126859600, LOC126859601, LOC126859602, LOC126859603, LOC126859604, LOC126859605, LOC126859606, LOC126859607, LOC126859608, LOC126859609, LOC126859610, LOC126859611, LOC126859612, LOC126859613, LOC126859614, LOC126859615, LOC126859616, LOC126859617, LOC126859618, LOC126859619, LOC126859620, LOC126859621, LOC126859622, LOC126859623, LOC126859624, LOC126859625, LOC126859626, LOC126859627, LOC126859628, LOC126859629, LOC126859630, LOC126859631, LOC126859632, LOC126859633, LOC126859634, LOC126859635, LOC126859636, LOC126859637, LOC126859638, LOC126859639, LOC126859640, LOC126859641, LOC126859642, LOC126859660, LOC126859643, LOC126859644, LOC126859645, LOC126859646, LOC126859647, LOC126859648, LOC126859649, LOC126859650, LOC126859651, LOC126859652, LOC126859653, LOC126859654, LOC126859655, LOC126859656, LOC126859657, LOC126859658, LOC126859659, LOC126859661, LOC126859662, LOC126859663, LOC126859664, LOC126859665, LOC126859666, LOC126859667, LOC126859668, LOC126859669, LOC126859670, LOC126859671, LOC126859672, LOC126859673, LOC126859674, LOC126859675, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC126859681, LOC126859682, LOC127903862, LOC128462396, LOC128462417, LOC128635605, LOC128772275, LOC128772276, LOC128772277, LOC128772278, LOC128772279, LOC128772280, LOC128772281, LOC128772282, LOC128772283, LOC128772284, LOC128772285, LOC128772286, LOC128772287, LOC128772288, LOC128772289, LOC128772290, LOC128772291, LOC128772292, LOC128772293, LOC128772294, LOC128772295, LOC128781586, LOC128781587, LOC128781588, LOC285819, LOC285847, LOC401261, LOC554223, LOC643327, LRFN2, LRRC73, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY6G6F-LY6G6D, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAD2L1BP, MAK, MAPK13, MAPK14, MEA1, MED20, MAS1L, MBOAT1, MCCD1, MCUR1, MDC1, MDC1-AS1, MDFI, MDGA1, MICA, MICA-AS1, MICB, MIR5004, MICB-DT, MIR10398, MIR1236, MIR1275, MIR219A1, MIR3135B, MIR3143, MIR3691, MIR3925, MIR3934, MIR4462, MIR4639, MIR4640, MIR4641, MIR4642, MIR4645, MIR4646, MIR4647, MIR548A1, MIR548A1HG, MIR5683, MIR5689, MIR5689HG, MIR5690, MIR586, MIR6720, MIR6721, MIR6780B, MIR6832, MIR6833, MIR6834, MIR6835, MIR6873, MIR6891, MIR7111, MIR7159, MIR7853, MIR877, MIR9983, MLN, MOCS1, MRPS10, MOG, MPIG6B, MRPL14, MRPL2, MRPS18A, MRPS18B, MRS2, MSH5, MSH5-SAPCD1, MTCH1, MUC21, NBAT1, NCR2, MUC22, MUCL3, MYLIP, MYLK4, MYMX, NCR3, NEDD9, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NHLRC1, NKAPL, NOL7, NOTCH4, NQO2, NQO2-AS1, NRM, NRN1, NRSN1, NUDT3, NUP153, NUP153-AS1, OARD1, OFCC1, OR10C1, OR11A1, OR12D1, OR12D2, OR12D3, OR2B8P, OR14J1, OR1F12, OR2B2, OR2B3, OR2B6, OR2H1, OR2H2, OR2I1P, OR2J1, OR2J2, OR2J3, OR2W1, OR2W1-AS1, OR5V1, PACSIN1, PAK1IP1, PANDAR, PBX2, PEX6, PFDN6, PGBD1, PGC, PHACTR1, PHF1, PI16, PIM1, PLA2G7, PNPLA1, POLH, POLR1C, POLR1H, POM121L2, POU5F1, PPARD, PPIL1, PPP1R3G, PPP1R10, PPP1R11, PPP1R18, PPP2R5D, PPT2, PPT2-EGFL8, PRICKLE4, PRL, PRPF4B, PRPH2, PRR3, PRRC2A, PRRT1, PRSS16, PSMB8, PXDC1, PSMB8-AS1, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PSORS1C3, PTCRA, PTK7, PXT1, RAB44, RANBP9, RBM24, RCAN2, RCAN2-DT, RGL2, RING1, RIOK1, RIPK1, RIPOR2, RNF144B, RNF182, RNF39, RNF5, RNF8, RPL10A, RPL7L1, RPP21, RPP40, RPS10, RPS10-NUDT3, RPS18, RREB1, RRP36, RSPH9, RUNX2, RUNX2-AS1, RXRB, SAPCD1, SAPCD1-AS1, SAYSD1, SCAND3, SCARNA27, SCGN, SCIRT, SCUBE3, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SFTA2, SIRT5, SKIC2, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A23, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC35B2, SLC35B3, SLC39A7, SLC44A4, SMIM13, SMIM29, SMIM40, SNHG32, SNORA38, SRF, SNORD117, SNORD32B, SNORD48, SNORD52, SNORD84, SNRNP48, SNRPC, SOX4, SPATS1, SPDEF, SRPK1, SRSF3, SSR1, STK19, STK38, STMND1, SUPT3H, SYCP2L, SYNGAP1, SYNGAP1-AS1, TAF11, TAF8, TAP1, TAP2, TAPBP, TBC1D22B, TBC1D7, TBC1D7-LOC100130357, TBCC, TCF19, TCP11, TCTE1, TDP2, TDRD6, TDRD6-AS1, TDRG1, TEAD3, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TFEB, TJAP1, TMEM14B, TMEM14B-DT, TMEM14C, TMEM151B, TMEM170B, TMEM217, TMEM217B, TMEM63B, TNF, TNXB, TOMM6, TPMT, TRA-AGC1-1, TRA-AGC10-1, TRA-AGC11-1, TRA-AGC12-1, TRA-AGC14-1, TRA-AGC14-2, TRA-AGC2-1, TRA-AGC2-2, TRA-AGC3-1, TRA-AGC4-1, TRA-AGC5-1, TRA-AGC6-1, TRA-AGC7-1, TRA-AGC9-1, TRA-CGC1-1, TRA-CGC2-1, TRA-CGC4-1, TRA-TGC1-1, TRA-TGC2-1, TRA-TGC5-1, TRA-TGC6-1, TRA-TGC7-1, TRD-GTC2-6, TRD-GTC2-7, TRD-GTC3-1, TRE-CTC1-6, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRF-GAA1-1, TRF-GAA1-2, TRF-GAA3-1, TRF-GAA4-1, TRI-AAT3-1, TRF-GAA5-1, TRF-GAA6-1, TRG-GCC2-3, TRH-GTG1-5, TRI-AAT2-1, TRI-AAT5-1, TRI-AAT5-2, TRI-AAT5-3, TRI-AAT6-1, TRI-AAT7-1, TRI-AAT7-2, TRI-AAT8-1, TRI-AAT9-1, TRI-TAT2-2, TRI-TAT2-3, TRI-TAT3-1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM31-AS1, TRIM38, TRK-CTT2-4, TRIM39, TRIM39-RPP21, TRIM40, TRK-TTT3-3, TRK-TTT4-1, TRK-TTT6-1, TRK-TTT7-1, TRK-TTT9-1, TRL-AAG2-2, TRL-AAG3-1, TRL-AAG4-1, TRL-CAA1-1, TRL-CAA1-2, TRL-CAA2-1, TRL-CAA3-1, TRL-CAG1-7, TRL-TAA2-1, TRL-TAA4-1, TRM-CAT3-1, TRM-CAT3-2, TRM-CAT4-1, TRM-CAT4-2, TRM-CAT4-3, TRM-CAT5-1, TRM-CAT5-2, TRP-AGG2-2, TRP-CGG2-1, TRQ-CTG1-1, TRQ-CTG1-2, TRQ-TTG3-3, TRQ-CTG1-3, TRQ-CTG2-1, TRQ-CTG5-1, TRQ-CTG6-1, TRQ-TTG2-1, TRQ-TTG3-1, TRQ-TTG3-2, TRR-ACG1-1, TRR-ACG1-2, TRR-ACG2-2, TRR-ACG2-3, TRR-ACG2-4, TRR-CCG1-1, TRR-CCG1-2, TRR-TCG2-1, TRR-TCG4-1, TRR-TCG5-1, TRR-TCT5-1, TRS-AGA1-1, TRS-AGA2-1, TRS-AGA2-2, TRS-AGA2-3, TRS-AGA2-4, TRS-AGA3-1, TRS-AGA4-1, TRS-CGA2-1, TRS-CGA3-1, TRS-GCT1-1, TRS-GCT2-1, TRS-GCT4-1, TRS-GCT5-1, TRS-GCT6-1, TRS-TGA2-1, TRS-TGA3-1, TRS-TGA4-1, TRT-AGT2-1, TRT-AGT2-2, TRT-AGT3-1, TRT-AGT4-1, TRT-AGT6-1, TRT-CGT1-1, TRT-CGT3-1, TRT-CGT5-1, TRT-TGT1-1, TRV-AAC1-5, TRV-AAC3-1, TRV-AAC4-1, TRV-AAC5-1, TRV-AAC6-1, TRV-CAC1-6, TRV-CAC2-1, TRV-CAC6-1, TRV-CAC7-1, TRV-CAC9-1, TRV-TAC4-1, TRW-CCA3-1, TRW-CCA3-2, TRX-CAT1-2, TRX-CAT1-3, TRX-CAT1-4, TRX-CAT1-5, TRX-CAT1-6, TRX-CAT1-7, TRX-CAT2-1, TRY-GTA1-1, TRY-GTA3-1, TRY-GTA6-1, TRY-GTA8-1, TSBP1, TSBP1-AS1, TSPO2, TTBK1, TUBB, TUBB2A, TUBB2B, TULP1, TXNDC5, UBD, UBR2, UNC5CL, UQCC2, USP49, VARS1, VARS2, VEGFA, VPS52, VWA7, ZKSCAN3, WDR46, WRNIP1, XPO5, YIPF3, ZBTB12, ZBTB22, ZBTB9, ZFAND3, ZFP57, ZKSCAN4, ZKSCAN8, ZNF165, ZNF184, ZNF311, ZNF318, ZNF322, ZNF391, ZNF76, ZSCAN12, ZSCAN16, ZSCAN16-AS1, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, AARS2, ABCC10, ADTRP, ABCF1, ABHD16A, ABT1, ACOT13, AGER, AGPAT1, AIF1, ALDH5A1, ANKRD66, ANKS1A, APOBEC2, APOM, ARMC12, ARMH2, ATAT1, ATF6B, ATP6V1G2, BLTP3A, ATP6V1G2-DDX39B, ATXN1, ATXN1-AS1, B3GALT4, BMP6, BAG6, BAK1, BICRAL, BLOC1S5, BLOC1S5-TXNDC5, BNIP5, BPHL, BRD2, BRPF3, BRPF3-AS1, BTBD9, BTBD9-AS1, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, BYSL, C6orf132, C2, C2-AS1, C4A, C4B, C6orf136, C6orf15, C6orf201, C6orf226, C6orf47, C6orf52, C6orf62, C6orf89, CAGE1, CAP2, CAPN11, CARMIL1, CASC15, CCDC167, CCHCR1, CCND3, CD83, CDC5L, CDKAL1, CDKN1A, CDSN, CDYL, CDYL-AS1, CFB, CIMIP3, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CMTR1, CNPY3, CNPY3-GNMT, COL11A2, CPNE5, CRIP3, CSNK2B, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DAAM2-AS1, DAXX, DCDC2, DDAH2, DDR1, DDX39B, DDX39B-AS1, DEF6, DEK, DHX16, DINOL, DLK2, DNAH8, DNAH8-AS1, DNAH8-DT, DNPH1, DSP, DSP-AS1, DTNBP1, DUSP22, EEF1E1, DXO, E2F3, E2F3-IT1, ECI2, ECI2-DT, EDN1, EEF1E1-BLOC1S5, EGFL8, EHMT2, EHMT2-AS1, ELOVL2, ELOVL2-AS1, ENPP4, ENPP5, ERVFRD-1, ERVK9-12, ETV7, ETV7-AS1, EXOC2, F13A1, FAM217A, FAM50B, FAM8A1, FANCE, FARS2, FARS2-AS1, FGD2, FKBP5, FKBPL, FOXP4, FLOT1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXP4-AS1, FOXQ1, FRS3, GABBR1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GLO1, GLP1R, GMDS, GMDS-DT, GMNN, GMPR, GNL1, GNMT, GPX6, GPANK1, GPLD1, GPSM3, GPX5, GRM4, GTF2H4, GTPBP2, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HCG11, HCG14, HCG15, HLA-DQB1-AS1, HCG17, HCG18, HCG20, HCG21, HCG22, HCG23, HCG24, HCG25, HCG26, HCG27, HLA-DRB5, HCG4, HCG4B, HCG9, HCP5, HCP5B, HDGFL1, HFE, HFE-AS1, HIVEP1, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-E, HLA-F, HLA-F-AS1, HLA-G, HMGA1, HMGN4, HSD17B8, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HULC, HUS1B, ID4, IER3, IER3-AS1, ILRUN, ILRUN-AS1, IP6K3, IRF4, ITPR3, ITPR3-AS1, JARID2, JARID2-AS1, KAAG1, KCNK16, KCNK17, KCNK5, KCTD20, KDM1B, KIAA0319, KIF13A, KIF6, KIFC1, KLC4, KLHDC3, KU-MEL-3, LARRPM, LEMD2, LHFPL5, LINC00240, LINC00243, LINC00336, LINC00518, LINC00533, LINC00581, LINC00951, LINC01011, LINC01012, LINC01015, LINC01016, LINC01108, LINC01149, LINC01276, LINC01394, LINC01512, LINC01556, LINC01600, LINC01622, LINC01623, LINC02520, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LINC02537, LINC02543, LINC02569, LINC02570, LINC02571, LINC02828, LINC02829, LINC03003, LINC03005, LINC03040, LINC03066, LNC-LBCS, LOC100130357, LOC100131289, LOC100287329, LOC100294145, LOC100422781, LOC100506207, LOC100507336, LOC100507547, LOC101926915, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC101929309, LOC101929535, LOC101929555, LOC102724096, LOC102724749, LOC102724765, LOC105374901, LOC105374928, LOC105374943, LOC105374960, LOC105374988, LOC105374989, LOC105375022, LOC105375026, LOC105375050, LOC105375075, LOC105379699, LOC106780800, LOC106780803, LOC106780804, LOC106794091, LOC106799837, LOC106799842, LOC107063610, LOC107403164, LOC107648851, LOC107648856, LOC107648859, LOC107648863, LOC107648864, LOC107648866, LOC107986531, LOC107986596, LOC108004539, LOC108281120, LOC108281124, LOC108281148, LOC108663993, LOC108961161, LOC109611589, LOC109611593, LOC110120645, LOC110120976, LOC110120988, LOC110121016, LOC110121052, LOC110121065, LOC110121068, LOC110121074, LOC110121080, LOC110121091, LOC110121112, LOC110121134, LOC110121220 | | See cases | Pathogenic (Jul 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:3224544-30624967
- GRCh38:
- Chr6:3224310-30657190
| CASC15, CD83, CDKAL1, CDYL, CDYL-AS1, DCDC2, DEK, DHX16, DSP, DSP-AS1, DTNBP1, E2F3, E2F3-IT1, ECI2, ECI2-DT, EDN1, EEF1E1, EEF1E1-BLOC1S5, ELOVL2, ELOVL2-AS1, ERVFRD-1, ERVK9-12, F13A1, FAM217A, FAM50B, FAM8A1, FARS2, FARS2-AS1, GABBR1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GMNN, GMPR, GNL1, GPLD1, GPX5, GPX6, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HCG11, HCG14, HCG15, HCG17, HCG18, HCG4, HCG4B, HCG9, HCP5B, HDGFL1, HFE, HFE-AS1, HIVEP1, HLA-A, HLA-E, HLA-F, HLA-F-AS1, HLA-G, HMGN4, HULC, ID4, JARID2, JARID2-AS1, KAAG1, KDM1B, KIAA0319, KIF13A, KU-MEL-3, LARRPM, LINC00240, LINC00518, LINC00533, LINC00581, LINC01012, LINC01015, LINC01108, LINC01556, LINC01623, LINC02522, LINC02530, LINC02533, LINC02543, LINC02569, LINC02828, LINC02829, LINC03003, LINC03005, LNC-LBCS, LOC100130357, LOC100131289, LOC100422781, LOC100506207, LOC100507336, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC102724096, LOC102724749, LOC102724765, LOC105374901, LOC105374928, LOC105374943, LOC105374960, LOC105374988, LOC105374989, LOC106799837, LOC106799842, LOC107403164, LOC108281120, LOC108663993, LOC110120976, LOC110121016, LOC110121052, LOC110121065, LOC110121068, LOC110121074, LOC110121091, LOC110121134, LOC110121246, LOC110121247, LOC110121274, LOC111365167, LOC111429610, LOC111429615, LOC111556163, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113146424, LOC113146425, LOC113174970, LOC113174974, LOC113174975, LOC113174981, LOC113174982, LOC113174983, LOC113174984, LOC113174986, LOC113174987, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158539, LOC116158540, LOC116158541, LOC116158542, LOC116158543, LOC116158544, LOC116158545, LOC116158546, LOC116158547, LOC116158548, LOC116158549, LOC116158550, LOC116158551, LOC116158552, LOC116183041, LOC116183042, LOC116183043, LOC116183044, LOC116183045, LOC116183046, LOC116183047, LOC116183048, LOC116183049, LOC116183050, LOC116183051, LOC116183052, LOC116183053, LOC116183054, LOC116183055, LOC116183056, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121113499, LOC121132669, LOC121132670, LOC121132671, LOC121132672, LOC121132673, LOC121132674, LOC121132675, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, LOC121740643, LOC121740644, LOC121740645, LOC121740646, LOC121740647, LOC123575652, LOC123575653, LOC123575654, LOC123575655, LOC123575656, LOC123575657, LOC123575658, LOC123575659, LOC123575660, LOC123575661, LOC123575662, LOC123575663, LOC123575664, LOC123575665, LOC123575666, LOC123575667, LOC123575668, LOC123575669, LOC123575670, LOC123575671, LOC123575672, LOC123575673, LOC123575674, LOC123575675, LOC123575676, LOC123575677, LOC123575678, LOC123575679, LOC123575680, LOC123620059, LOC123620060, LOC123620061, LOC123620062, LOC123620063, LOC123620064, LOC123620065, LOC123620066, LOC123620067, LOC123620068, LOC123620069, LOC123620070, LOC123620071, LOC123620072, LOC123620073, LOC123620074, LOC123620075, LOC123620076, LOC123620077, LOC123620078, LOC126088086, LOC126088087, LOC126088088, LOC126859557, LOC126859558, LOC126859559, LOC126859560, LOC126859561, LOC126859562, LOC126859563, LOC126859564, LOC126859565, LOC126859566, LOC126859567, LOC126859568, LOC126859569, LOC126859570, LOC126859571, LOC126859572, LOC126859573, LOC126859574, LOC126859575, LOC126859576, LOC126859577, LOC126859578, LOC126859579, LOC126859580, LOC126859581, LOC126859582, LOC126859583, LOC126859584, LOC126859585, LOC126859586, LOC126859587, LOC126859588, LOC126859589, LOC126859590, LOC126859591, LOC126859592, LOC126859593, LOC126859594, LOC126859595, LOC126859596, LOC126859597, LOC126859598, LOC126859599, LOC126859600, LOC126859601, LOC126859602, LOC126859603, LOC126859604, LOC126859605, LOC126859606, LOC126859607, LOC126859608, LOC126859609, LOC126859610, LOC126859611, LOC126859612, LOC126859613, LOC126859614, LOC126859615, LOC126859616, LOC126859617, LOC126859618, LOC126859619, LOC126859620, LOC126859621, LOC126859622, LOC126859623, LOC126859624, LOC126859625, LOC126859626, LOC126859627, LOC126859628, LOC126859629, LOC126859630, LOC126859631, LOC126859632, LOC126859633, LOC126859634, LOC126859635, LOC126859636, LOC126859637, LOC126859638, LOC126859639, LOC126859640, LOC126859641, LOC128462396, LOC126859642, LOC126859643, LOC126859644, LOC127903862, LOC128462417, LOC128772275, LOC128772276, LOC128772277, LOC128781586, LOC285819, MAK, LOC554223, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAS1L, MBOAT1, MCUR1, MIR3143, MIR3691, MIR4639, MIR548A1, MIR548A1HG, MIR5683, MIR5689, MIR5689HG, MIR7853, MIR877, MOG, MRPS18B, MRS2, MYLIP, NBAT1, NEDD9, NHLRC1, NKAPL, NOL7, NRN1, NRSN1, NUP153, NUP153-AS1, OFCC1, OR10C1, OR11A1, OR12D1, OR12D2, OR12D3, OR14J1, OR1F12, OR2B2, OR2B3, OR2B6, OR2B8P, OR2H1, OR2H2, OR2I1P, OR2J1, OR2J2, OR2J3, OR2W1, OR2W1-AS1, OR5V1, PAK1IP1, PGBD1, PHACTR1, POLR1H, POM121L2, PPP1R10, RIOK1, PPP1R11, PPP1R3G, PRL, PRPF4B, RIPOR2, PRR3, PRSS16, PSMG4, PXDC1, RANBP9, RBM24, RNF144B, RNF182, RNF39, RPP21, RPP40, RREB1, SCAND3, SCARNA27, SCGN, SIRT5, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A23, SLC35B3, SMIM13, SNORD32B, SNRNP48, SOX4, SSR1, STMND1, SYCP2L, TBC1D7, TBC1D7-LOC100130357, TDP2, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TMEM14B, TMEM14B-DT, TMEM14C, TMEM170B, TPMT, TRA-AGC1-1, TRA-AGC10-1, TRA-AGC11-1, TRA-AGC12-1, TRA-AGC14-1, TRA-AGC14-2, TRH-GTG1-5, TRI-AAT2-1, TRA-AGC2-1, TRA-AGC2-2, TRA-AGC3-1, TRA-AGC4-1, TRA-AGC5-1, TRA-AGC6-1, TRA-AGC7-1, TRA-AGC9-1, TRA-CGC1-1, TRA-CGC2-1, TRA-CGC4-1, TRA-TGC1-1, TRA-TGC2-1, TRA-TGC5-1, TRA-TGC6-1, TRA-TGC7-1, TRD-GTC2-6, TRD-GTC2-7, TRD-GTC3-1, TRE-CTC1-6, TRF-GAA1-1, TRF-GAA1-2, TRF-GAA3-1, TRI-AAT3-1, TRF-GAA4-1, TRF-GAA5-1, TRF-GAA6-1, TRG-GCC2-3, TRI-AAT5-1, TRI-AAT5-2, TRI-AAT5-3, TRI-AAT6-1, TRI-AAT7-1, TRI-AAT7-2, TRI-AAT8-1, TRI-AAT9-1, TRI-TAT2-2, TRI-TAT2-3, TRI-TAT3-1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM31-AS1, TRIM38, TRK-CTT2-4, TRIM39, TRIM39-RPP21, TRIM40, TRK-TTT3-3, TRK-TTT4-1, TRK-TTT6-1, TRK-TTT7-1, TRK-TTT9-1, TRL-AAG2-2, TRL-AAG3-1, TRL-AAG4-1, TRL-CAA1-1, TRL-CAA1-2, TRL-CAA2-1, TRL-CAA3-1, TRL-CAG1-7, TRL-TAA2-1, TRL-TAA4-1, TRM-CAT3-1, TRM-CAT3-2, TRM-CAT4-1, TRM-CAT4-2, TRM-CAT4-3, TRM-CAT5-1, TRM-CAT5-2, TRP-AGG2-2, TRP-CGG2-1, TRQ-CTG1-1, TRQ-CTG1-2, TRQ-TTG3-3, TRQ-CTG1-3, TRQ-CTG2-1, TRQ-CTG5-1, TRQ-CTG6-1, TRQ-TTG2-1, TRQ-TTG3-1, TRQ-TTG3-2, TRR-ACG1-1, TRR-ACG1-2, TRR-ACG2-2, TRR-ACG2-3, TRR-ACG2-4, TRR-CCG1-1, TRR-CCG1-2, TRR-TCG2-1, TRR-TCG4-1, TRR-TCG5-1, TRR-TCT5-1, TRS-AGA1-1, TRS-AGA2-1, TRS-AGA2-2, TRS-AGA2-3, TRS-AGA2-4, TRS-AGA3-1, TRS-AGA4-1, TRS-CGA2-1, TRS-CGA3-1, TRS-GCT1-1, TRS-GCT2-1, TRS-GCT4-1, TRS-GCT5-1, TRS-GCT6-1, TRS-TGA2-1, TRS-TGA3-1, TRS-TGA4-1, TRT-AGT2-1, TRT-AGT2-2, TRT-AGT3-1, TRT-AGT4-1, TRT-AGT6-1, TRT-CGT1-1, TRT-CGT3-1, TRT-CGT5-1, TRT-TGT1-1, TRV-AAC1-5, TRV-AAC3-1, TRV-AAC4-1, TRV-AAC5-1, TRV-AAC6-1, TRV-CAC1-6, TRV-CAC2-1, TRV-CAC6-1, TRV-CAC7-1, TRV-CAC9-1, TRV-TAC4-1, TRW-CCA3-1, TRW-CCA3-2, TRX-CAT1-2, TRX-CAT1-3, TRX-CAT1-4, TRX-CAT1-5, TRX-CAT1-6, TRX-CAT1-7, TRX-CAT2-1, TRY-GTA1-1, TRY-GTA3-1, TRY-GTA6-1, TRY-GTA8-1, TUBB2B, TXNDC5, UBD, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF184, ZNF311, ZNF322, ZNF391, ZSCAN12, ZSCAN16, ZSCAN16-AS1, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, ABCF1, ABT1, ACOT13, ADTRP, ALDH5A1, ARMH2, ATAT1, ATXN1, ATXN1-AS1, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, C6orf136, C6orf201, C6orf52, C6orf62, CAGE1, CAP2, CARMIL1 | | See cases | Pathogenic (Jun 11, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr6:22519683-25226559
- GRCh38:
- Chr6:22519454-25226331
| ACOT13, ALDH5A1, ARMH2, C6orf62, DCDC2, GMNN, GPLD1, HDGFL1, KAAG1, KIAA0319, LINC02828, LINC03005, LOC102724749, LOC102724765, LOC110121074, LOC113174981, LOC113174982, LOC113174983, LOC121132673, LOC123620069, LOC123620070, LOC126859620, LOC126859621, MRS2, NRSN1, RIPOR2, TDP2 | | See cases | Pathogenic (Mar 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:23252750-25967505
- GRCh38:
- Chr6:23252522-25967277
| ACOT13, ALDH5A1, ARMH2, C6orf62, CARMIL1, DCDC2, GMNN, GPLD1, H2AC1, H2BC1, KAAG1, KIAA0319, LINC02828, LOC101928663, LOC102724749, LOC102724765, LOC113174981, LOC113174982, LOC113174983, LOC116158548, LOC121132673, LOC123620069, LOC123620070, LOC126859621, LOC126859622, LOC126859623, MRS2, NRSN1, RIPOR2, SCGN, SLC17A1, SLC17A2, SLC17A3, SLC17A4, TDP2, TRIM38 | | See cases | Uncertain significance (Aug 2, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr6:24174674
- GRCh38:
- Chr6:24174446
| DCDC2 | | not provided | Benign (Apr 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24174679-24174680
- GRCh38:
- Chr6:24174451-24174452
| DCDC2 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24174803
- GRCh38:
- Chr6:24174575
| DCDC2 | | not provided | Benign (Mar 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24174834
- GRCh38:
- Chr6:24174606
| DCDC2 | | not provided | Benign (Jun 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24174955
- GRCh38:
- Chr6:24174727
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided, Nephronophthisis 19 | Benign (Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24174955
- GRCh38:
- Chr6:24174727
| DCDC2 | | not provided | Likely benign (May 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24174966
- GRCh38:
- Chr6:24174738
| DCDC2 | V475M | not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
| Conflicting interpretations of pathogenicity (Jul 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24174967
- GRCh38:
- Chr6:24174739
| DCDC2 | | not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
| Likely benign (Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24174983
- GRCh38:
- Chr6:24174755
| DCDC2 | N469T | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24174999
- GRCh38:
- Chr6:24174771
| DCDC2 | E464K | not provided | Uncertain significance (Aug 4, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24175011
- GRCh38:
- Chr6:24174783
| DCDC2 | P460S | not provided | Uncertain significance (Apr 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24175021
- GRCh38:
- Chr6:24174793
| DCDC2 | K456N | not specified, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided | Benign (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24175025
- GRCh38:
- Chr6:24174797
| DCDC2 | V455A | Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided | Uncertain significance (Jul 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24175030
- GRCh38:
- Chr6:24174802
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
| Conflicting interpretations of pathogenicity (Jun 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24175033
- GRCh38:
- Chr6:24174805
| DCDC2 | | not provided | Uncertain significance (Nov 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24175041
- GRCh38:
- Chr6:24174813
| DCDC2 | P450T | not provided | Uncertain significance (Feb 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24175045
- GRCh38:
- Chr6:24174817
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign (Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24175073
- GRCh38:
- Chr6:24174845
| DCDC2 | | not provided | Uncertain significance (Jan 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24175077
- GRCh38:
- Chr6:24174849
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24175124
- GRCh38:
- Chr6:24174896
| DCDC2 | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24175319
- GRCh38:
- Chr6:24175091
| DCDC2 | | not provided | Benign (Dec 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24175323-24175326
- GRCh38:
- Chr6:24175095-24175098
| DCDC2 | | not provided | Benign (Nov 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24175380
- GRCh38:
- Chr6:24175152
| DCDC2 | | not provided | Likely benign (Dec 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178306
- GRCh38:
- Chr6:24178078
| DCDC2 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178499
- GRCh38:
- Chr6:24178271
| DCDC2 | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178566
- GRCh38:
- Chr6:24178338
| DCDC2 | Q440* | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178570
- GRCh38:
- Chr6:24178342
| DCDC2 | | not provided | Uncertain significance (Dec 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178571
- GRCh38:
- Chr6:24178343
| DCDC2 | S438I | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance (May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178596
- GRCh38:
- Chr6:24178368
| DCDC2 | E430K | not provided | Uncertain significance (Feb 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178601
- GRCh38:
- Chr6:24178373
| DCDC2 | D428V | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance (Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178609
- GRCh38:
- Chr6:24178381
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178612
- GRCh38:
- Chr6:24178384
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign (Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178613
- GRCh38:
- Chr6:24178385
| DCDC2 | Q424P | Nonsyndromic Deafness, Autosomal recessive nonsyndromic hearing loss 66 | Pathogenic (Jan 18, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr6:24178643
- GRCh38:
- Chr6:24178415
| DCDC2 | E414A | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance (Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178647
- GRCh38:
- Chr6:24178419
| DCDC2 | G413S | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance (Oct 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178660
- GRCh38:
- Chr6:24178432
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign (Nov 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178660
- GRCh38:
- Chr6:24178432
| DCDC2 | | not provided | Likely benign (May 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178661
- GRCh38:
- Chr6:24178433
| DCDC2 | T408I | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178663
- GRCh38:
- Chr6:24178435
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178664
- GRCh38:
- Chr6:24178436
| DCDC2 | G407V | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance (Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178665
- GRCh38:
- Chr6:24178437
| DCDC2 | G407R | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance (Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178667
- GRCh38:
- Chr6:24178439
| DCDC2 | G406E | not provided | Uncertain significance (Feb 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178676
- GRCh38:
- Chr6:24178448
| DCDC2 | R403H | not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not specified | Benign/Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24178677
- GRCh38:
- Chr6:24178449
| DCDC2 | R403C | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance (Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178681
- GRCh38:
- Chr6:24178453
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178685
- GRCh38:
- Chr6:24178457
| DCDC2 | R400H | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Nov 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24178702-24178703
- GRCh38:
- Chr6:24178474-24178475
| DCDC2 | H394fs | not provided | Uncertain significance (Sep 16, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr6:24178719
- GRCh38:
- Chr6:24178491
| DCDC2 | E389K | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178720
- GRCh38:
- Chr6:24178492
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178730
- GRCh38:
- Chr6:24178502
| DCDC2 | P385L | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178737
- GRCh38:
- Chr6:24178509
| DCDC2 | D383H | not provided | Likely benign (Nov 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178747
- GRCh38:
- Chr6:24178519
| DCDC2 | | not provided | Likely benign (Dec 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178748
- GRCh38:
- Chr6:24178520
| DCDC2 | R379K | Inborn genetic diseases | Uncertain significance (Jan 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178776
- GRCh38:
- Chr6:24178548
| DCDC2 | N370D | not provided | Uncertain significance (Oct 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178782
- GRCh38:
- Chr6:24178554
| DCDC2 | G368R | not provided | Uncertain significance (May 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178784
- GRCh38:
- Chr6:24178556
| DCDC2 | S367L | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Inborn genetic diseases, not provided | Uncertain significance (Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24178785
- GRCh38:
- Chr6:24178557
| DCDC2 | S367T | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
| Conflicting interpretations of pathogenicity (Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24178808
- GRCh38:
- Chr6:24178580
| DCDC2 | D359V | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178813
- GRCh38:
- Chr6:24178585
| DCDC2 | N357K | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178818
- GRCh38:
- Chr6:24178590
| DCDC2 | A356P | Inborn genetic diseases | Uncertain significance (Jan 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178818
- GRCh38:
- Chr6:24178590
| DCDC2 | A356T | not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, Nephronophthisis 19, Isolated neonatal sclerosing cholangitis
| Conflicting interpretations of pathogenicity (Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24178828
- GRCh38:
- Chr6:24178600
| DCDC2 | D352E | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance (Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178840
- GRCh38:
- Chr6:24178612
| DCDC2 | | not specified, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, Nephronophthisis 19, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, not provided | Benign/Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24178856
- GRCh38:
- Chr6:24178628
| DCDC2 | P343L | not provided | Uncertain significance (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178860
- GRCh38:
- Chr6:24178632
| DCDC2 | R342W | not provided, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
| Uncertain significance (Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24178876
- GRCh38:
- Chr6:24178648
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign (Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178887
- GRCh38:
- Chr6:24178659
| DCDC2 | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178998
- GRCh38:
- Chr6:24178770
| DCDC2 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178999
- GRCh38:
- Chr6:24178771
| DCDC2 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24179061
- GRCh38:
- Chr6:24178833
| DCDC2 | | not provided | Benign (Dec 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24204985
- GRCh38:
- Chr6:24204757
| DCDC2 | | not provided | Benign (Dec 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205074-24205075
- GRCh38:
- Chr6:24204846-24204847
| DCDC2 | | not provided | Benign (Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205089-24205613
- GRCh38:
- Chr6:24204861-24205385
| DCDC2 | | Isolated neonatal sclerosing cholangitis | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205202
- GRCh38:
- Chr6:24204974
| DCDC2 | | not provided | Likely benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205216
- GRCh38:
- Chr6:24204988
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign (Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205221
- GRCh38:
- Chr6:24204993
| DCDC2 | | not provided | Uncertain significance (Mar 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205235
- GRCh38:
- Chr6:24205007
| DCDC2 | D340N | not provided | Uncertain significance (Mar 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205236
- GRCh38:
- Chr6:24205008
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19, not specified, Autosomal recessive nonsyndromic hearing loss 66
| Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24205254
- GRCh38:
- Chr6:24205026
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
| Conflicting interpretations of pathogenicity (Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24205261
- GRCh38:
- Chr6:24205033
| DCDC2 | E331V | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205270
- GRCh38:
- Chr6:24205042
| DCDC2 | Q328R | Inborn genetic diseases | Uncertain significance (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205275
- GRCh38:
- Chr6:24205047
| DCDC2 | E326D | Inborn genetic diseases | Uncertain significance (Mar 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205282-24205283
- GRCh38:
- Chr6:24205054-24205055
| DCDC2 | A324fs | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66, not provided
| Pathogenic/Likely pathogenic (Oct 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24205283
- GRCh38:
- Chr6:24205055
| DCDC2 | A324S | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance (Apr 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205286
- GRCh38:
- Chr6:24205058
| DCDC2 | G323R | Autosomal recessive nonsyndromic hearing loss 66, Inborn genetic diseases | Uncertain significance (Mar 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24205288
- GRCh38:
- Chr6:24205060
| DCDC2 | R322P | not provided, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance (Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24205299
- GRCh38:
- Chr6:24205071
| DCDC2 | | not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
| Conflicting interpretations of pathogenicity (Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24205311
- GRCh38:
- Chr6:24205083
| DCDC2 | G315fs | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, Nephronophthisis 19, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, not provided
| Pathogenic/Likely pathogenic (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24205324
- GRCh38:
- Chr6:24205096
| DCDC2 | G310A | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
| Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24205329
- GRCh38:
- Chr6:24205101
| DCDC2 | | not provided | Likely benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205338
- GRCh38:
- Chr6:24205110
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205338
- GRCh38:
- Chr6:24205110
| DCDC2 | | not provided | Uncertain significance (Aug 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205339-24205342
- GRCh38:
- Chr6:24205111-24205114
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign (Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205340
- GRCh38:
- Chr6:24205112
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205342
- GRCh38:
- Chr6:24205114
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205348
- GRCh38:
- Chr6:24205120
| DCDC2 | | Nephronophthisis 19, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign (Apr 21, 2022) | criteria provided, multiple submitters, no conflicts |