| - GRCh37:
- Chr6:156974-46757028
- GRCh38:
- Chr6:156974-46789291
| LOC110121065, LOC110121068, LOC110121074, LOC110121080, LOC110121091, LOC110121112, LOC110121134, LOC110121220, 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, MUC22, MUCL3, MYLIP, MYLK4, MYMX, NBAT1, NCR2, 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, OR14J1, OR1F12, OR2B2, OR2B3, OR2B6, OR2B8P, 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, PRPF4B, POU5F1, PPARD, PPIL1, PPP1R10, PPP1R11, PPP1R18, PPP1R3G, PPP2R5D, PPT2, PPT2-EGFL8, PRICKLE4, PRL, PRPH2, PRR3, PRRC2A, PXDC1, PXT1, PRRT1, PRSS16, PSMB8, RAB44, PSMB8-AS1, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PSORS1C3, PTCRA, PTK7, RANBP9, RBM24, RCAN2, RCAN2-DT, RGL2, RPL7L1, RING1, RIOK1, RIPK1, RIPOR2, RNF144B, RNF182, RNF39, RNF5, RNF8, RPL10A, RPP21, RPP40, RPS10, RPS10-NUDT3, RPS18, RREB1, RRP36, RSPH9, RUNX2, RUNX2-AS1, SCAND3, RXRB, SAPCD1, SAPCD1-AS1, SAYSD1, 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, SNORD117, SNRNP48, SNORD32B, SNORD48, SNORD52, SNORD84, SNRPC, SOX4, SPATS1, SPDEF, SRF, 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, ABCF1, ABHD16A, ABT1, ACOT13, ADTRP, AGER, APOBEC2, AGPAT1, AIF1, ALDH5A1, ANKRD66, ANKS1A, APOM, ARMC12, ARMH2, ATAT1, ATF6B, ATP6V1G2, ATP6V1G2-DDX39B, ATXN1, ATXN1-AS1, B3GALT4, BAG6, BAK1, BICRAL, BLOC1S5, BLOC1S5-TXNDC5, BLTP3A, BMP6, BNIP5, BPHL, BRD2, BRPF3, BRPF3-AS1, BTBD9, BTBD9-AS1, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, C4A, BTNL2, BYSL, C2, C2-AS1, C4B, C6orf132, 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, CNPY3, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CMTR1, 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, DXO, E2F3, E2F3-IT1, ECI2, ECI2-DT, EDN1, EEF1E1, 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, FLOT1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXP4, FOXP4-AS1, FOXQ1, FRS3, GABBR1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GLO1, GLP1R, GMDS, GMDS-DT, GMNN, GMPR, GNL1, GNMT, GPANK1, GPLD1, GPSM3, GPX5, GPX6, GRM4, GTF2H4, GTPBP2, GUCA1A, GUCA1ANB, 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, HCG16, HCG17, HUS1B, HCG18, HCG20, HCG21, HCG22, HCG23, HCG24, HCG25, HLA-DRB5, HCG26, HCG27, HCG4, HLA-DQB1-AS1, HCG4B, HCG9, HCP5, HSP90AB1, 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, HSPA1A, HSPA1B, HSPA1L, HULC, 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, LOC100507547, LOC101926915, LOC101927691, LOC101927759, LOC101927950, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC101929555, LOC102724096, LOC105374960, LOC105374988, LOC105375075, LOC105379699, LOC106780800, LOC106780803, LOC106780804, LOC106794091, LOC106799837, LOC106799842, LOC107063610, LOC107403164, LOC107648851, LOC108663993, LOC107648856, LOC107648859, LOC107648863, LOC107648864, LOC107648866, LOC107986531, LOC107986596, LOC108004539, LOC108281120, LOC108281124, LOC108281148, LOC108961161, LOC109611589, LOC109611593, LOC110120645, LOC110120976, LOC110120988, LOC110121016, LOC110121052 | | See cases | Pathogenic (Jul 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:3224544-30624967
- GRCh38:
- Chr6:3224310-30657190
| 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, 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, 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, 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, BTN1A1, ATAT1, ATXN1, ATXN1-AS1, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, CAP2, C6orf136, C6orf201, C6orf52, C6orf62, CAGE1, CARMIL1, 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, H1-2, GNL1, GPLD1, GPX5, GPX6, H1-1, 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, HCG16, HCG17, HCG18, HCG4, HCG4B, HFE-AS1, HCG9, HCP5B, HDGFL1, HFE, HIVEP1, HLA-A, HLA-E, HMGN4, HLA-F, HLA-F-AS1, HLA-G, 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, LINC03005, LINC02569, LINC02828, LINC02829, LINC03003, LNC-LBCS, LOC100130357, LOC100131289, LOC100422781, LOC100506207, LOC101927950, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC102724096, LOC105374960, LOC105374988, 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 | | See cases | Pathogenic (Jun 11, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr6:25991619-26117057
- GRCh38:
- Chr6:25991391-26116829
| H1-1, H1-2, H1-6, H2AC4, H2BC3, H2BC4, H3C1, H3C2, H3C3, H4C1, H4C2, H4C3, HFE, HFE-AS1, LOC121740647, TRIM38 | | See cases | Likely benign (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:25991630-26280921
- GRCh38:
- Chr6:25991402-26280693
| H1-1, H1-2, H1-3, H1-4, H1-6, H2AC4, H2AC6, H2AC7, H2AC8, H2BC10, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, HFE, HFE-AS1, LOC121740647, LOC123620071, LOC126859625, LOC126859626, LOC126859627, TRIM38 | | See cases | Likely benign (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr6:26087202
- GRCh38:
- Chr6:26086974
| HFE, HFE-AS1 | | not provided, Hereditary hemochromatosis | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26087259
- GRCh38:
- Chr6:26087031
| HFE, HFE-AS1 | | not provided | Likely benign (Sep 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087573
- GRCh38:
- Chr6:26087345
| HFE, HFE-AS1 | | Hemochromatosis type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087621
- GRCh38:
- Chr6:26087393
| HFE, HFE-AS1 | | Hemochromatosis type 1 | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087649
- GRCh38:
- Chr6:26087421
| HFE, HFE-AS1 | | not provided | Uncertain significance (Apr 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087662
- GRCh38:
- Chr6:26087434
| HFE, HFE-AS1 | | Hereditary hemochromatosis, Hemochromatosis type 1 | Conflicting interpretations of pathogenicity (Aug 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26087665
- GRCh38:
- Chr6:26087437
| HFE, HFE-AS1 | | not provided | Uncertain significance (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087674
- GRCh38:
- Chr6:26087446
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087686
- GRCh38:
- Chr6:26087458
| HFE, HFE-AS1 | R6S | not provided, Hereditary hemochromatosis, Variegate porphyria, Alzheimer disease type 1, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, Microvascular complications of diabetes, susceptibility to, 7, Hemochromatosis type 1
| Uncertain significance (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26087688
- GRCh38:
- Chr6:26087460
| HFE-AS1, HFE | P7R | not provided | Uncertain significance (Jul 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087689
- GRCh38:
- Chr6:26087461
| HFE-AS1, HFE | | Hemochromatosis type 1, Hereditary hemochromatosis, not provided
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26087691
- GRCh38:
- Chr6:26087463
| HFE, HFE-AS1 | A8V | Hereditary hemochromatosis | Uncertain significance (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087692
- GRCh38:
- Chr6:26087464
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087704
- GRCh38:
- Chr6:26087476
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087708
- GRCh38:
- Chr6:26087480
| HFE, HFE-AS1 | L14V | Hereditary hemochromatosis, not provided, Hemochromatosis type 1
| Uncertain significance (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26087711
- GRCh38:
- Chr6:26087483
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087718
- GRCh38:
- Chr6:26087490
| HFE, HFE-AS1 | T17I | Hereditary hemochromatosis, Hemochromatosis type 1 | Uncertain significance (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26087719
- GRCh38:
- Chr6:26087491
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087722
- GRCh38:
- Chr6:26087494
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087725
- GRCh38:
- Chr6:26087497
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087736
- GRCh38:
- Chr6:26087508
| HFE, HFE-AS1 | R23H | Hereditary hemochromatosis, not provided, Hemochromatosis type 1
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26087746
- GRCh38:
- Chr6:26087518
| HFE, HFE-AS1 | | Alzheimer disease type 1 | Likely pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087752
- GRCh38:
- Chr6:26087524
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087752
- GRCh38:
- Chr6:26087524
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Sep 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087753
- GRCh38:
- Chr6:26087525
| HFE-AS1, HFE | | Hereditary hemochromatosis | Likely benign (Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087755
- GRCh38:
- Chr6:26087527
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087759
- GRCh38:
- Chr6:26087531
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087856
- GRCh38:
- Chr6:26087628
| HFE, HFE-AS1 | | not provided | Benign (Sep 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091067-26091070
- GRCh38:
- Chr6:26090839-26090842
| HFE, HFE-AS1 | | Hemochromatosis type 1 | Likely pathogenic (Jul 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091076
- GRCh38:
- Chr6:26090848
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091079
- GRCh38:
- Chr6:26090851
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Aug 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091080
- GRCh38:
- Chr6:26090852
| HFE, HFE-AS1 | L30M | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr6:26091080
- GRCh38:
- Chr6:26090852
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091097
- GRCh38:
- Chr6:26090869
| HFE-AS1, HFE | M35I | not provided | Uncertain significance (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091099
- GRCh38:
- Chr6:26090871
| HFE, HFE-AS1 | G36D | Hereditary hemochromatosis | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091102
- GRCh38:
- Chr6:26090874
| HFE, HFE-AS1 | A37V | Inborn genetic diseases | Uncertain significance (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091128
- GRCh38:
- Chr6:26090900
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091133
- GRCh38:
- Chr6:26090905
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Aug 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091137
- GRCh38:
- Chr6:26090909
| HFE, HFE-AS1 | A49S | not specified | Uncertain significance (Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091148
- GRCh38:
- Chr6:26090920
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091149
- GRCh38:
- Chr6:26090921
| HFE, HFE-AS1 | V53M, V30M | Hemochromatosis type 1 | Uncertain significance (Jul 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091157
- GRCh38:
- Chr6:26090929
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091163
- GRCh38:
- Chr6:26090935
| HFE, HFE-AS1 | | not provided, Hereditary hemochromatosis | Likely benign (Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091166
- GRCh38:
- Chr6:26090938
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091167
- GRCh38:
- Chr6:26090939
| HFE, HFE-AS1 | V59M, V36M | Hemochromatosis type 1 | Uncertain significance (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091174
- GRCh38:
- Chr6:26090946
| HFE, HFE-AS1 | Y38C, Y61C | Hereditary hemochromatosis | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091179
- GRCh38:
- Chr6:26090951
| HFE, HFE-AS1 | H63D, H40D | Hemochromatosis type 1, Hereditary hemochromatosis, Microvascular complications of diabetes, susceptibility to, 7, Variegate porphyria, Transferrin serum level quantitative trait locus 2, Alzheimer disease, Familial porphyria cutanea tarda, Hemochromatosis type 1, not specified, not provided, CardiomyopathyVariegate porphyria, See cases, Abnormality of iron homeostasis, ...see more | Conflicting interpretations of pathogenicity; other (Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26091181
- GRCh38:
- Chr6:26090953
| HFE, HFE-AS1 | | Hemochromatosis type 1, Hereditary hemochromatosis | Benign/Likely benign (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091184
- GRCh38:
- Chr6:26090956
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Dec 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091185
- GRCh38:
- Chr6:26090957
| HFE, HFE-AS1 | S65C, S42C | Hemochromatosis type 1, Hereditary hemochromatosis, Microvascular complications of diabetes, susceptibility to, 7, Variegate porphyria, Transferrin serum level quantitative trait locus 2, Alzheimer disease, Familial porphyria cutanea tarda, Hemochromatosis type 1, not specified, not provided, Microvascular complications of diabetes, susceptibility to, 7Variegate porphyria, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, Hemochromatosis type 1, Alzheimer disease type 1, ...see more | Conflicting interpretations of pathogenicity (Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26091188
- GRCh38:
- Chr6:26090960
| HFE-AS1, HFE | R43C, R66C | not provided, Hemochromatosis type 1, not specified
| Uncertain significance (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091192
- GRCh38:
- Chr6:26090964
| HFE, HFE-AS1 | R44H, R67H | not provided | Uncertain significance (Jul 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091192
- GRCh38:
- Chr6:26090964
| HFE-AS1, HFE | R67L, R44L | Hemochromatosis type 1 | Uncertain significance (Oct 20, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091193
- GRCh38:
- Chr6:26090965
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091194
- GRCh38:
- Chr6:26090966
| HFE-AS1, HFE | V45M, V68M | not provided | Uncertain significance (Jan 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091203
- GRCh38:
- Chr6:26090975
| HFE-AS1, HFE | R48*, R71* | Hereditary hemochromatosis, Hemochromatosis type 1 | Pathogenic (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091204
- GRCh38:
- Chr6:26090976
| HFE-AS1, HFE | R71Q, R48Q | not provided | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091209
- GRCh38:
- Chr6:26090981
| HFE, HFE-AS1 | P73A, P50A | Inborn genetic diseases | Uncertain significance (Feb 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091220
- GRCh38:
- Chr6:26090992
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Apr 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091254
- GRCh38:
- Chr6:26091026
| HFE, HFE-AS1 | S65C, S88C | Hemochromatosis type 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:26091269
- GRCh38:
- Chr6:26091041
| HFE | W71fs, W94fs | Hereditary hemochromatosis | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091269
- GRCh38:
- Chr6:26091041
| HFE | G93R, G70R | Hemochromatosis type 1 | Pathogenic (Jun 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr6:26091270
- GRCh38:
- Chr6:26091042
| HFE | G93V, G70V | Hereditary hemochromatosis | Uncertain significance (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091274-26091275
- GRCh38:
- Chr6:26091046-26091047
| HFE | | not specified | Uncertain significance (Feb 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091274
- GRCh38:
- Chr6:26091046
| HFE | W71C, W94C | not specified | Uncertain significance (Feb 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091275
- GRCh38:
- Chr6:26091047
| HFE | D72H, D95H | not specified | Uncertain significance (Feb 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091305
- GRCh38:
- Chr6:26091077
| HFE | I105V, I82V | Hereditary hemochromatosis | Uncertain significance (May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091306
- GRCh38:
- Chr6:26091078
| HFE | I105T, I82T | Hereditary hemochromatosis | Uncertain significance (Aug 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091312
- GRCh38:
- Chr6:26091084
| HFE | E107G, E84G | Inborn genetic diseases | Uncertain significance (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091333
- GRCh38:
- Chr6:26091105
| HFE | | not provided | Likely pathogenic (Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091336
- GRCh38:
- Chr6:26091108
| HFE | | not specified, not provided, Hemochromatosis type 1, Hereditary hemochromatosis | Benign/Likely benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091344
- GRCh38:
- Chr6:26091116
| HFE | | Hereditary hemochromatosis | Likely benign (Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091530
- GRCh38:
- Chr6:26091302
| HFE | | Hereditary hemochromatosis | Uncertain significance (Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091541
- GRCh38:
- Chr6:26091313
| HFE | | Hereditary hemochromatosis | Likely pathogenic (Dec 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091546
- GRCh38:
- Chr6:26091318
| HFE | | Hereditary hemochromatosis | Likely benign (Dec 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091553
- GRCh38:
- Chr6:26091325
| HFE | | Hereditary hemochromatosis | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091564
- GRCh38:
- Chr6:26091336
| HFE | | Hereditary hemochromatosis | Likely benign (Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091582
- GRCh38:
- Chr6:26091354
| HFE | Q127H, Q104H, Q39H | Hemochromatosis type 1 | Pathogenic (Aug 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr6:26091590
- GRCh38:
- Chr6:26091362
| HFE | N130S, N107S, N42S | Hereditary hemochromatosis | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091597
- GRCh38:
- Chr6:26091369
| HFE | | Hereditary hemochromatosis | Likely benign (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091597
- GRCh38:
- Chr6:26091369
| HFE | | Hereditary hemochromatosis | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091602
- GRCh38:
- Chr6:26091374
| HFE | G111A, G134A, G46A | not provided | Uncertain significance (Dec 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091608
- GRCh38:
- Chr6:26091380
| HFE | W136*, W48*, W113* | Hereditary hemochromatosis | Pathogenic (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091615
- GRCh38:
- Chr6:26091387
| HFE | Y115*, Y138*, Y50* | Hereditary hemochromatosis | Pathogenic (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091615
- GRCh38:
- Chr6:26091387
| HFE | | Hereditary hemochromatosis | Likely benign (Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091618
- GRCh38:
- Chr6:26091390
| HFE | | Hereditary hemochromatosis | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091658
- GRCh38:
- Chr6:26091430
| HFE | | Hereditary hemochromatosis | Likely benign (Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091675
- GRCh38:
- Chr6:26091447
| HFE | | not provided | Likely benign (Jan 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091679
- GRCh38:
- Chr6:26091451
| HFE | R138fs, R161fs, R73fs | Hereditary hemochromatosis | Pathogenic (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091680
- GRCh38:
- Chr6:26091452
| HFE | P160R, P137R, P72R | Inborn genetic diseases | Uncertain significance (Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091697
- GRCh38:
- Chr6:26091469
| HFE | K143E, K166E, K78E | Hemochromatosis type 1, not provided, Hereditary hemochromatosis
| Uncertain significance (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091699
- GRCh38:
- Chr6:26091471
| HFE | K143N, K166N, K78N | Hereditary hemochromatosis | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091703
- GRCh38:
- Chr6:26091475
| HFE | E168Q, E80Q, E145Q | Hemochromatosis type 1, Hereditary hemochromatosis, not provided, Variegate porphyria, Microvascular complications of diabetes, susceptibility to, 7, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, Alzheimer disease type 1
| Uncertain significance (Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091703
- GRCh38:
- Chr6:26091475
| HFE | E168*, E145*, E80* | Hereditary hemochromatosis | Pathogenic (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091705
- GRCh38:
- Chr6:26091477
| HFE | | Hereditary hemochromatosis | Likely benign (Aug 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091707
- GRCh38:
- Chr6:26091479
| HFE | W169*, W81*, W146* | Hemochromatosis type 1 | not provided | no assertion provided |