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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
2.
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 casesPathogenic
(Jun 11, 2012)
no assertion criteria provided
3.
GRCh37:
Chr6:25991619-26117057
GRCh38:
Chr6:25991391-26116829
See casesLikely benign
(Apr 30, 2011)
no assertion criteria provided
4.
GRCh37:
Chr6:25991630-26280921
GRCh38:
Chr6:25991402-26280693
See casesLikely benign
(Sep 21, 2012)
no assertion criteria provided
5.
GRCh37:
Chr6:26087202
GRCh38:
Chr6:26086974
HFE, HFE-AS1not provided, Hereditary hemochromatosisBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr6:26087259
GRCh38:
Chr6:26087031
HFE, HFE-AS1not providedLikely benign
(Sep 16, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr6:26087573
GRCh38:
Chr6:26087345
HFE, HFE-AS1Hemochromatosis type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr6:26087621
GRCh38:
Chr6:26087393
HFE, HFE-AS1Hemochromatosis type 1Benign
(Apr 27, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr6:26087649
GRCh38:
Chr6:26087421
HFE, HFE-AS1not providedUncertain significance
(Apr 29, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr6:26087662
GRCh38:
Chr6:26087434
HFE, HFE-AS1Hereditary hemochromatosis, Hemochromatosis type 1Conflicting interpretations of pathogenicity
(Aug 27, 2022)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr6:26087665
GRCh38:
Chr6:26087437
HFE, HFE-AS1not providedUncertain significance
(Apr 11, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr6:26087674
GRCh38:
Chr6:26087446
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(May 24, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr6:26087686
GRCh38:
Chr6:26087458
HFE, HFE-AS1R6Snot 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
14.
GRCh37:
Chr6:26087688
GRCh38:
Chr6:26087460
HFE-AS1, HFEP7Rnot providedUncertain significance
(Jul 9, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr6:26087689
GRCh38:
Chr6:26087461
HFE-AS1, HFEHemochromatosis type 1, Hereditary hemochromatosis, not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr6:26087691
GRCh38:
Chr6:26087463
HFE, HFE-AS1A8VHereditary hemochromatosisUncertain significance
(Sep 22, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr6:26087692
GRCh38:
Chr6:26087464
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Dec 2, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr6:26087704
GRCh38:
Chr6:26087476
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Jul 3, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr6:26087708
GRCh38:
Chr6:26087480
HFE, HFE-AS1L14VHereditary hemochromatosis, not provided, Hemochromatosis type 1
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr6:26087711
GRCh38:
Chr6:26087483
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Aug 25, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr6:26087718
GRCh38:
Chr6:26087490
HFE, HFE-AS1T17IHereditary hemochromatosis, Hemochromatosis type 1Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr6:26087719
GRCh38:
Chr6:26087491
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Aug 17, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr6:26087722
GRCh38:
Chr6:26087494
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Jun 29, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr6:26087725
GRCh38:
Chr6:26087497
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Jul 25, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr6:26087736
GRCh38:
Chr6:26087508
HFE, HFE-AS1R23HHereditary hemochromatosis, not provided, Hemochromatosis type 1
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr6:26087746
GRCh38:
Chr6:26087518
HFE, HFE-AS1Alzheimer disease type 1Likely pathogenic
(May 4, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr6:26087752
GRCh38:
Chr6:26087524
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Jun 17, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:26087752
GRCh38:
Chr6:26087524
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Sep 16, 2020)
criteria provided, single submitter
29.
GRCh37:
Chr6:26087753
GRCh38:
Chr6:26087525
HFE-AS1, HFEHereditary hemochromatosisLikely benign
(Nov 11, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr6:26087755
GRCh38:
Chr6:26087527
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Oct 2, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr6:26087759
GRCh38:
Chr6:26087531
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Oct 10, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr6:26087856
GRCh38:
Chr6:26087628
HFE, HFE-AS1not providedBenign
(Sep 4, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr6:26091067-26091070
GRCh38:
Chr6:26090839-26090842
HFE, HFE-AS1Hemochromatosis type 1Likely pathogenic
(Jul 6, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr6:26091076
GRCh38:
Chr6:26090848
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Feb 28, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr6:26091079
GRCh38:
Chr6:26090851
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Aug 1, 2019)
criteria provided, single submitter
36.
GRCh37:
Chr6:26091080
GRCh38:
Chr6:26090852
HFE, HFE-AS1L30Mnot providedUncertain significanceno assertion criteria provided
37.
GRCh37:
Chr6:26091080
GRCh38:
Chr6:26090852
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Sep 20, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr6:26091097
GRCh38:
Chr6:26090869
HFE-AS1, HFEM35Inot providedUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr6:26091099
GRCh38:
Chr6:26090871
HFE, HFE-AS1G36DHereditary hemochromatosisUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr6:26091102
GRCh38:
Chr6:26090874
HFE, HFE-AS1A37VInborn genetic diseasesUncertain significance
(Feb 28, 2023)
criteria provided, single submitter
41.
GRCh37:
Chr6:26091128
GRCh38:
Chr6:26090900
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Aug 31, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr6:26091133
GRCh38:
Chr6:26090905
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Aug 3, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr6:26091137
GRCh38:
Chr6:26090909
HFE, HFE-AS1A49Snot specifiedUncertain significance
(Jan 17, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr6:26091148
GRCh38:
Chr6:26090920
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Sep 5, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr6:26091149
GRCh38:
Chr6:26090921
HFE, HFE-AS1V53M, V30MHemochromatosis type 1Uncertain significance
(Jul 16, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr6:26091157
GRCh38:
Chr6:26090929
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Jul 15, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr6:26091163
GRCh38:
Chr6:26090935
HFE, HFE-AS1not provided, Hereditary hemochromatosisLikely benign
(Feb 2, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr6:26091166
GRCh38:
Chr6:26090938
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Jun 25, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:26091167
GRCh38:
Chr6:26090939
HFE, HFE-AS1V59M, V36MHemochromatosis type 1Uncertain significance
(May 28, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr6:26091174
GRCh38:
Chr6:26090946
HFE, HFE-AS1Y38C, Y61CHereditary hemochromatosisUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr6:26091179
GRCh38:
Chr6:26090951
HFE, HFE-AS1H63D, H40DHemochromatosis 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
52.
GRCh37:
Chr6:26091181
GRCh38:
Chr6:26090953
HFE, HFE-AS1Hemochromatosis type 1, Hereditary hemochromatosisBenign/Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr6:26091184
GRCh38:
Chr6:26090956
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Dec 16, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr6:26091185
GRCh38:
Chr6:26090957
HFE, HFE-AS1S65C, S42CHemochromatosis 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
55.
GRCh37:
Chr6:26091188
GRCh38:
Chr6:26090960
HFE-AS1, HFER43C, R66Cnot provided, Hemochromatosis type 1, not specified
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr6:26091192
GRCh38:
Chr6:26090964
HFE, HFE-AS1R44H, R67Hnot providedUncertain significance
(Jul 26, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr6:26091192
GRCh38:
Chr6:26090964
HFE-AS1, HFER67L, R44LHemochromatosis type 1Uncertain significance
(Oct 20, 2015)
criteria provided, single submitter
58.
GRCh37:
Chr6:26091193
GRCh38:
Chr6:26090965
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Mar 1, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr6:26091194
GRCh38:
Chr6:26090966
HFE-AS1, HFEV45M, V68Mnot providedUncertain significance
(Jan 29, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr6:26091203
GRCh38:
Chr6:26090975
HFE-AS1, HFER48*, R71*Hereditary hemochromatosis, Hemochromatosis type 1Pathogenic
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr6:26091204
GRCh38:
Chr6:26090976
HFE-AS1, HFER71Q, R48Qnot providedUncertain significance
(Jun 1, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr6:26091209
GRCh38:
Chr6:26090981
HFE, HFE-AS1P73A, P50AInborn genetic diseasesUncertain significance
(Feb 22, 2023)
criteria provided, single submitter
63.
GRCh37:
Chr6:26091220
GRCh38:
Chr6:26090992
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Apr 11, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr6:26091254
GRCh38:
Chr6:26091026
HFE, HFE-AS1S65C, S88CHemochromatosis type 1Likely pathogenicno assertion criteria provided
65.
GRCh37:
Chr6:26091269
GRCh38:
Chr6:26091041
HFEW71fs, W94fsHereditary hemochromatosisPathogenic
(Sep 1, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr6:26091269
GRCh38:
Chr6:26091041
HFEG93R, G70RHemochromatosis type 1Pathogenic
(Jun 1, 1999)
no assertion criteria provided
67.
GRCh37:
Chr6:26091270
GRCh38:
Chr6:26091042
HFEG93V, G70VHereditary hemochromatosisUncertain significance
(Feb 22, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr6:26091274-26091275
GRCh38:
Chr6:26091046-26091047
HFEnot specifiedUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
69.
GRCh37:
Chr6:26091274
GRCh38:
Chr6:26091046
HFEW71C, W94Cnot specifiedUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
70.
GRCh37:
Chr6:26091275
GRCh38:
Chr6:26091047
HFED72H, D95Hnot specifiedUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
71.
GRCh37:
Chr6:26091305
GRCh38:
Chr6:26091077
HFEI105V, I82VHereditary hemochromatosisUncertain significance
(May 20, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr6:26091306
GRCh38:
Chr6:26091078
HFEI105T, I82THereditary hemochromatosisUncertain significance
(Aug 25, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr6:26091312
GRCh38:
Chr6:26091084
HFEE107G, E84GInborn genetic diseasesUncertain significance
(May 18, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr6:26091333
GRCh38:
Chr6:26091105
HFEnot providedLikely pathogenic
(Oct 4, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr6:26091336
GRCh38:
Chr6:26091108
HFEnot specified, not provided, Hemochromatosis type 1,
Hereditary hemochromatosis
Benign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr6:26091344
GRCh38:
Chr6:26091116
HFEHereditary hemochromatosisLikely benign
(Sep 3, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr6:26091530
GRCh38:
Chr6:26091302
HFEHereditary hemochromatosisUncertain significance
(Jul 9, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr6:26091541
GRCh38:
Chr6:26091313
HFEHereditary hemochromatosisLikely pathogenic
(Dec 17, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr6:26091546
GRCh38:
Chr6:26091318
HFEHereditary hemochromatosisLikely benign
(Dec 24, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr6:26091553
GRCh38:
Chr6:26091325
HFEHereditary hemochromatosisLikely benign
(Sep 7, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr6:26091564
GRCh38:
Chr6:26091336
HFEHereditary hemochromatosisLikely benign
(Jul 4, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:26091582
GRCh38:
Chr6:26091354
HFEQ127H, Q104H, Q39HHemochromatosis type 1Pathogenic
(Aug 1, 1999)
no assertion criteria provided
83.
GRCh37:
Chr6:26091590
GRCh38:
Chr6:26091362
HFEN130S, N107S, N42SHereditary hemochromatosisUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr6:26091597
GRCh38:
Chr6:26091369
HFEHereditary hemochromatosisLikely benign
(Mar 13, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:26091597
GRCh38:
Chr6:26091369
HFEHereditary hemochromatosisLikely benign
(Aug 23, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:26091602
GRCh38:
Chr6:26091374
HFEG111A, G134A, G46Anot providedUncertain significance
(Dec 27, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr6:26091608
GRCh38:
Chr6:26091380
HFEW136*, W48*, W113*Hereditary hemochromatosisPathogenic
(Jul 13, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:26091615
GRCh38:
Chr6:26091387
HFEY115*, Y138*, Y50*Hereditary hemochromatosisPathogenic
(Aug 30, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr6:26091615
GRCh38:
Chr6:26091387
HFEHereditary hemochromatosisLikely benign
(Mar 24, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr6:26091618
GRCh38:
Chr6:26091390
HFEHereditary hemochromatosisLikely benign
(Jun 27, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:26091658
GRCh38:
Chr6:26091430
HFEHereditary hemochromatosisLikely benign
(Jul 1, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr6:26091675
GRCh38:
Chr6:26091447
HFEnot providedLikely benign
(Jan 11, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr6:26091679
GRCh38:
Chr6:26091451
HFER138fs, R161fs, R73fsHereditary hemochromatosisPathogenic
(Aug 28, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr6:26091680
GRCh38:
Chr6:26091452
HFEP160R, P137R, P72RInborn genetic diseasesUncertain significance
(Aug 9, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr6:26091697
GRCh38:
Chr6:26091469
HFEK143E, K166E, K78EHemochromatosis type 1, not provided, Hereditary hemochromatosis
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr6:26091699
GRCh38:
Chr6:26091471
HFEK143N, K166N, K78NHereditary hemochromatosisUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr6:26091703
GRCh38:
Chr6:26091475
HFEE168Q, E80Q, E145QHemochromatosis 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
98.
GRCh37:
Chr6:26091703
GRCh38:
Chr6:26091475
HFEE168*, E145*, E80*Hereditary hemochromatosisPathogenic
(Jul 14, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr6:26091705
GRCh38:
Chr6:26091477
HFEHereditary hemochromatosisLikely benign
(Aug 15, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr6:26091707
GRCh38:
Chr6:26091479
HFEW169*, W81*, W146*Hemochromatosis type 1not providedno assertion provided
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