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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
2.
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 casesPathogenic
(Jun 11, 2012)
no assertion criteria provided
3.
GRCh37:
Chr6:22519683-25226559
GRCh38:
Chr6:22519454-25226331
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
4.
GRCh37:
Chr6:23252750-25967505
GRCh38:
Chr6:23252522-25967277
See casesUncertain significance
(Aug 2, 2012)
no assertion criteria provided
5.
GRCh37:
Chr6:24174674
GRCh38:
Chr6:24174446
DCDC2not providedBenign
(Apr 10, 2019)
criteria provided, single submitter
6.
GRCh37:
Chr6:24174679-24174680
GRCh38:
Chr6:24174451-24174452
DCDC2not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr6:24174803
GRCh38:
Chr6:24174575
DCDC2not providedBenign
(Mar 31, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr6:24174834
GRCh38:
Chr6:24174606
DCDC2not providedBenign
(Jun 24, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr6:24174955
GRCh38:
Chr6:24174727
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided,
Nephronophthisis 19
Benign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr6:24174955
GRCh38:
Chr6:24174727
DCDC2not providedLikely benign
(May 10, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr6:24174966
GRCh38:
Chr6:24174738
DCDC2V475Mnot provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
Conflicting interpretations of pathogenicity
(Jul 12, 2022)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr6:24174967
GRCh38:
Chr6:24174739
DCDC2not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
Likely benign
(Jul 21, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr6:24174983
GRCh38:
Chr6:24174755
DCDC2N469TIsolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66Uncertain significance
(Oct 18, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr6:24174999
GRCh38:
Chr6:24174771
DCDC2E464Knot providedUncertain significance
(Aug 4, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr6:24175011
GRCh38:
Chr6:24174783
DCDC2P460Snot providedUncertain significance
(Apr 9, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr6:24175021
GRCh38:
Chr6:24174793
DCDC2K456Nnot specified, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis,
not provided
Benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr6:24175025
GRCh38:
Chr6:24174797
DCDC2V455ANephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis,
not provided
Uncertain significance
(Jul 20, 2021)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr6:24175030
GRCh38:
Chr6:24174802
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
Conflicting interpretations of pathogenicity
(Jun 14, 2022)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr6:24175033
GRCh38:
Chr6:24174805
DCDC2not providedUncertain significance
(Nov 2, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr6:24175041
GRCh38:
Chr6:24174813
DCDC2P450Tnot providedUncertain significance
(Feb 14, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr6:24175045
GRCh38:
Chr6:24174817
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisLikely benign
(Dec 14, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr6:24175073
GRCh38:
Chr6:24174845
DCDC2not providedUncertain significance
(Jan 2, 2020)
criteria provided, single submitter
23.
GRCh37:
Chr6:24175077
GRCh38:
Chr6:24174849
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisLikely benign
(Jan 27, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr6:24175124
GRCh38:
Chr6:24174896
DCDC2not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr6:24175319
GRCh38:
Chr6:24175091
DCDC2not providedBenign
(Dec 17, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr6:24175323-24175326
GRCh38:
Chr6:24175095-24175098
DCDC2not providedBenign
(Nov 29, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr6:24175380
GRCh38:
Chr6:24175152
DCDC2not providedLikely benign
(Dec 21, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr6:24178306
GRCh38:
Chr6:24178078
DCDC2not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr6:24178499
GRCh38:
Chr6:24178271
DCDC2not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr6:24178566
GRCh38:
Chr6:24178338
DCDC2Q440*Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr6:24178570
GRCh38:
Chr6:24178342
DCDC2not providedUncertain significance
(Dec 13, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr6:24178571
GRCh38:
Chr6:24178343
DCDC2S438IIsolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66Uncertain significance
(May 10, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr6:24178596
GRCh38:
Chr6:24178368
DCDC2E430Knot providedUncertain significance
(Feb 9, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr6:24178601
GRCh38:
Chr6:24178373
DCDC2D428VAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisUncertain significance
(Sep 20, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr6:24178609
GRCh38:
Chr6:24178381
DCDC2Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66Likely benign
(Aug 8, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr6:24178612
GRCh38:
Chr6:24178384
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisLikely benign
(Jan 2, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:24178613
GRCh38:
Chr6:24178385
DCDC2Q424PNonsyndromic Deafness, Autosomal recessive nonsyndromic hearing loss 66Pathogenic
(Jan 18, 2015)
no assertion criteria provided
38.
GRCh37:
Chr6:24178643
GRCh38:
Chr6:24178415
DCDC2E414AAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisUncertain significance
(Sep 29, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr6:24178647
GRCh38:
Chr6:24178419
DCDC2G413SAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisUncertain significance
(Oct 9, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr6:24178660
GRCh38:
Chr6:24178432
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisLikely benign
(Nov 23, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr6:24178660
GRCh38:
Chr6:24178432
DCDC2not providedLikely benign
(May 18, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr6:24178661
GRCh38:
Chr6:24178433
DCDC2T408IAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisUncertain significance
(May 27, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr6:24178663
GRCh38:
Chr6:24178435
DCDC2Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66Likely benign
(Jul 23, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr6:24178664
GRCh38:
Chr6:24178436
DCDC2G407VIsolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66Uncertain significance
(Apr 30, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr6:24178665
GRCh38:
Chr6:24178437
DCDC2G407RAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisUncertain significance
(Sep 29, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr6:24178667
GRCh38:
Chr6:24178439
DCDC2G406Enot providedUncertain significance
(Feb 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr6:24178676
GRCh38:
Chr6:24178448
DCDC2R403Hnot 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
48.
GRCh37:
Chr6:24178677
GRCh38:
Chr6:24178449
DCDC2R403CIsolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66Uncertain significance
(Jan 15, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:24178681
GRCh38:
Chr6:24178453
DCDC2Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66Likely benign
(Sep 6, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr6:24178685
GRCh38:
Chr6:24178457
DCDC2R400HAutosomal 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
51.
GRCh37:
Chr6:24178702-24178703
GRCh38:
Chr6:24178474-24178475
DCDC2H394fsnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria provided
52.
GRCh37:
Chr6:24178719
GRCh38:
Chr6:24178491
DCDC2E389KAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr6:24178720
GRCh38:
Chr6:24178492
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisLikely benign
(Sep 17, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr6:24178730
GRCh38:
Chr6:24178502
DCDC2P385LAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr6:24178737
GRCh38:
Chr6:24178509
DCDC2D383Hnot providedLikely benign
(Nov 25, 2020)
criteria provided, single submitter
56.
GRCh37:
Chr6:24178747
GRCh38:
Chr6:24178519
DCDC2not providedLikely benign
(Dec 28, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr6:24178748
GRCh38:
Chr6:24178520
DCDC2R379KInborn genetic diseasesUncertain significance
(Jan 18, 2023)
criteria provided, single submitter
58.
GRCh37:
Chr6:24178776
GRCh38:
Chr6:24178548
DCDC2N370Dnot providedUncertain significance
(Oct 30, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr6:24178782
GRCh38:
Chr6:24178554
DCDC2G368Rnot providedUncertain significance
(May 31, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr6:24178784
GRCh38:
Chr6:24178556
DCDC2S367LAutosomal 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
61.
GRCh37:
Chr6:24178785
GRCh38:
Chr6:24178557
DCDC2S367TAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
Conflicting interpretations of pathogenicity
(Jun 27, 2022)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr6:24178808
GRCh38:
Chr6:24178580
DCDC2D359VIsolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr6:24178813
GRCh38:
Chr6:24178585
DCDC2N357KAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr6:24178818
GRCh38:
Chr6:24178590
DCDC2A356PInborn genetic diseasesUncertain significance
(Jan 18, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr6:24178818
GRCh38:
Chr6:24178590
DCDC2A356Tnot 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
66.
GRCh37:
Chr6:24178828
GRCh38:
Chr6:24178600
DCDC2D352EAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisUncertain significance
(Jan 17, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr6:24178840
GRCh38:
Chr6:24178612
DCDC2not 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
68.
GRCh37:
Chr6:24178856
GRCh38:
Chr6:24178628
DCDC2P343Lnot providedUncertain significance
(Feb 28, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr6:24178860
GRCh38:
Chr6:24178632
DCDC2R342Wnot provided, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
Uncertain significance
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr6:24178876
GRCh38:
Chr6:24178648
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisLikely benign
(Jul 9, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr6:24178887
GRCh38:
Chr6:24178659
DCDC2not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr6:24178998
GRCh38:
Chr6:24178770
DCDC2not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr6:24178999
GRCh38:
Chr6:24178771
DCDC2not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr6:24179061
GRCh38:
Chr6:24178833
DCDC2not providedBenign
(Dec 12, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr6:24204985
GRCh38:
Chr6:24204757
DCDC2not providedBenign
(Dec 10, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr6:24205074-24205075
GRCh38:
Chr6:24204846-24204847
DCDC2not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr6:24205089-24205613
GRCh38:
Chr6:24204861-24205385
DCDC2Isolated neonatal sclerosing cholangitisLikely pathogeniccriteria provided, single submitter
78.
GRCh37:
Chr6:24205202
GRCh38:
Chr6:24204974
DCDC2not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr6:24205216
GRCh38:
Chr6:24204988
DCDC2Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66Likely benign
(Apr 17, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr6:24205221
GRCh38:
Chr6:24204993
DCDC2not providedUncertain significance
(Mar 30, 2017)
criteria provided, single submitter
81.
GRCh37:
Chr6:24205235
GRCh38:
Chr6:24205007
DCDC2D340Nnot providedUncertain significance
(Mar 1, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr6:24205236
GRCh38:
Chr6:24205008
DCDC2Autosomal 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
83.
GRCh37:
Chr6:24205254
GRCh38:
Chr6:24205026
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
Conflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr6:24205261
GRCh38:
Chr6:24205033
DCDC2E331VIsolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:24205270
GRCh38:
Chr6:24205042
DCDC2Q328RInborn genetic diseasesUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:24205275
GRCh38:
Chr6:24205047
DCDC2E326DInborn genetic diseasesUncertain significance
(Mar 20, 2023)
criteria provided, single submitter
87.
GRCh37:
Chr6:24205282-24205283
GRCh38:
Chr6:24205054-24205055
DCDC2A324fsIsolated 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
88.
GRCh37:
Chr6:24205283
GRCh38:
Chr6:24205055
DCDC2A324SAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisUncertain significance
(Apr 4, 2019)
criteria provided, single submitter
89.
GRCh37:
Chr6:24205286
GRCh38:
Chr6:24205058
DCDC2G323RAutosomal recessive nonsyndromic hearing loss 66, Inborn genetic diseasesUncertain significance
(Mar 7, 2023)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr6:24205288
GRCh38:
Chr6:24205060
DCDC2R322Pnot provided, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19,
Autosomal recessive nonsyndromic hearing loss 66
Uncertain significance
(Jan 7, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr6:24205299
GRCh38:
Chr6:24205071
DCDC2not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
Conflicting interpretations of pathogenicity
(Sep 13, 2022)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr6:24205311
GRCh38:
Chr6:24205083
DCDC2G315fsIsolated 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
93.
GRCh37:
Chr6:24205324
GRCh38:
Chr6:24205096
DCDC2G310AAutosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr6:24205329
GRCh38:
Chr6:24205101
DCDC2not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr6:24205338
GRCh38:
Chr6:24205110
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisLikely benign
(May 12, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr6:24205338
GRCh38:
Chr6:24205110
DCDC2not providedUncertain significance
(Aug 27, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr6:24205339-24205342
GRCh38:
Chr6:24205111-24205114
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisLikely benign
(Dec 19, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr6:24205340
GRCh38:
Chr6:24205112
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisLikely benign
(Dec 2, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr6:24205342
GRCh38:
Chr6:24205114
DCDC2Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitisLikely benign
(Sep 23, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr6:24205348
GRCh38:
Chr6:24205120
DCDC2Nephronophthisis 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
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