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Items: 10

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr6:156974-46757028
GRCh38:
Chr6:156974-46789291
LOC113174992, LOC113174993, LOC113174995, LOC113174996, LOC113174997, LOC113174998, LOC113174999, LOC113175000, LOC113175001, LOC113175002, LOC113175003, LOC113175004, LOC113175005, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, MIR10398, MIR9983, SMIM40, LOC114004399, LOC114004400, LOC114827825, LOC114827828, LOC114841037, 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, LOC116183061, LOC116183056, LOC116183057, LOC116183058, LOC116183059, LOC116183060, LOC116183062, LOC116183063, ABCF1, AGER, AIF1, ATP6V1G2, BAK1, CFB, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCND3, CDC5L, CDKN1A, CDSN, CLIC1, CLPS, COL11A2, ATF6B, MAPK14, CSNK2B, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, SERPINB1, SLC29A1, F13A1, FANCE, FKBP5, FOXF2, FOXC1, GABBR1, GCNT2, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPX5, GRM4, GTF2H4, GUCA1A, GUCA1B, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC8, H2AC7, H2BC5, H2BC3, H1-1, HFE, 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-DRB5, HLA-E, HLA-F, MAK, HLA-G, HMGA1, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, ID4, IRF4, ITPR3, JARID2, KIFC1, LTA, LTB, MDFI, MEA1, MICB, MLN, MOCS1, MOG, MSH5, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NQO2, NOTCH4, PBX2, PEX6, PGC, PHF1, SERPINB6, SERPINB9, PIM1, POLH, MAPK13, POU5F1, PPARD, PPP1R10, PPP2R5D, PRL, PSMB8, PSMB9, PTK7, RGL2, PRPH2, TRIM27, RING1, BRD2, RNF5, RPS10, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SKIV2L, SLC17A1, SNRPC, SOX4, SRF, SRPK1, SSR1, TAF11, TAP1, TAP2, TAPBP, TBCC, TCF19, TCP11, PPP1R11, TEAD3, TFAP2A, TNF, TNXB, TPMT, TRI-AAT9-1, TRX-CAT1-2, TRX-CAT2-1, TRR-ACG1-2, TRR-TCG4-1, TUBB2A, TULP1, VARS1, VEGFA, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, H4C9, H2AC13, H2AC15, H2AC14, H2AC16, H2AC6, H2AC4, H2AC17, H2BC8, H2BC13, H2BC15, H2BC14, H2BC7, H2BC6, H2BC9, H2BC10, H2BC4, H2BC17, H3C1, H3C4, H3C3, H3C6, H3C11, H3C8, H3C12, H3C10, H3C2, H4C1, H4C4, H4C6, H4C12, H4C11, H4C3, H4C8, H4C2, H4C5, H4C13, H4C7, DHX16, SUPT3H, KCNK5, B3GALT4, RIPK1, SYNGAP1, H2BC11, STK19, IER3, PRPF4B, H3C7, H2AC11, RNF8, GCM2, WDR46, ZBTB22, CD83, PPT2, CDYL, NCR2, LY86, MED20, SLC25A27, EEF1E1, POLR1C, MAD2L1BP, MDC1, RIPOR2, ZSCAN12, CUL7, KIAA0319, NUP153, RANBP9, SLC17A4, TRIM10, FLOT1, RCAN2, SLC17A2, HCG9, PRSS16, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, UBD, AGPAT1, SCGN, DNPH1, TSBP1, FARS2, CNPY3, SLC17A3, RPP40, FRS3, SLC22A7, HCP5, EHMT2, APOBEC2, TRIM31, BTN3A2, BTN3A1, BTN2A1, CAPN11, NUDT3, NRM, STK38, ENPP4, CMTR1, CUL9, ANKS1A, UBR2, SIRT5, TRS-AGA2-3, DAAM2, BICRAL, TRS-TGA4-1, USP49, DDAH2, MTCH1, ZNF318, SPDEF, YIPF3, OR2B6, FAM50B, OR12D2, OR12D1, OR11A1, OR2W1, OR2J2, OR2H1, SNORD52, SNORD48, BRPF3, GNMT, MRPS18B, C6orf15, MYLIP, ABT1, PRICKLE4, PACSIN1, ZNRD1, DEF6, SNHG32, SLC35B3, GMNN, MRPL2, TBC1D7, NRN1, CYP39A1, NOL7, FAM8A1, DCDC2, ETV7, TMEM14C, TDP2, CUTA, PPIL1, CLIC5, TREM2, TREM1, ELOVL2, HCG4, GFOD1, CCHCR1, GTPBP2, UHRF1BP1, CDKAL1, PAK1IP1, MRPS18A, MRPS10, TMEM63B, CARMIL1, TBC1D22B, EXOC2, SAYSD1, TRERF1, ACOT13, WRNIP1, APOM, BTNL2, TRIM39, DUSP22, LYRM4, VARS2, MRS2, LRFN2, AARS2, XPO5, CPNE5, LSM2, C6orf47, LY6G5B, LY6G6D, ENPP5, ZFAND3, SLC22A23, BLOC1S5, MCUR1, GPSM3, FKBPL, KIF13A, ZSCAN31, ILRUN, MRPL14, DLK2, ZNF322, TREML2, RPP21, ATAT1, ZKSCAN3, ZSCAN16, RNF39, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, PRRT1, EGFL8, HCG4B, TXNDC5, C6orf62, OR5V1, OR2B2, OR12D3, TMEM14B, RIOK1, KCNK16, DTNBP1, UQCC2, PGBD1, TTBK1, ADTRP, H2AC12, H2BC12, RRP36, KCNK17, ABCC10, TRIM15, KLC4, TJAP1, TRS-TGA2-1, POM121L2, FOXQ1, BTBD9, ZBED9, FOXP4, KLHDC3, SLC26A8, MAS1L, IP6K3, TAF8, HUS1B, TRIM40, MUCL3, NRSN1, SNRNP48, MBOAT1, HDGFL1, LINC01600, CCDC167, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, TRIM39-RPP21, TUBB, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, H2AC1, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, LINC00518, PXDC1, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, HCG27, RNF144B, H2BC1, GPX6, NCR3, LY6G6F, OFCC1, MDGA1, ZNF311, LOC285766, LINC01622, LY86-AS1, CAGE1, LOC285819, HLA-F-AS1, HCG22, LOC285847, PNPLA1, TREML4, RPL7L1, LINC02537, MYLK4, CLPSL1, TREML1, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, ZKSCAN4, HCG26, HCP5B, KAAG1, NHLRC1, LINC00533, PSMG4, SFTA2, CLPSL2, BNIP5, MUC21, LINC01011, STMND1, CASC15, LINC01623, LINC00243, MCCD1, SAPCD1, LINC00336, RAB44, LINC00951, LOC401261, CRIP3, C6orf201, ERVFRD-1, MIR219A1, HCG14, HCG15, OR1F12, HCG23, HCG25, HCG16, TMEM151B, HCG24, HCG18, HCG17, C6orf226, OR2B3, OR2J1, OR2J3, OR14J1, OR10C1, HCG11, KU-MEL-3, LOC554223, LOC643327, C6orf132, PPP1R3G, SNORA38, SNORD32B, SNORD84, SNORD117, MIR548A1, MIR586, HULC, NBAT1, LINC01556, TDRG1, TRS-AGA3-1, TRV-AAC1-5, TRV-AAC3-1, TRA-AGC11-1, TMEM170B, SCARNA27, MIR877, ZSCAN16-AS1, LYRM4-AS1, LOC100129636, TFAP2A-AS1, LOC100130357, PSORS1C3, DNAH8-AS1, LOC100131289, LINC01512, LINC00240, TOMM6, TRH-GTG1-5, TRS-GCT2-1, TRR-TCT5-1, TRV-AAC5-1, TRE-CTC1-6, TRI-TAT2-2, TRA-CGC4-1, TRR-TCG5-1, TRT-CGT1-1, TRL-CAA3-1, TRX-CAT1-4, TRS-CGA2-1, TRA-AGC6-1, TRA-AGC4-1, TRA-AGC5-1, TRW-CCA3-2, TRK-TTT4-1, TRA-TGC5-1, TRL-TAA4-1, TRS-AGA4-1, TRI-AAT2-1, TRQ-TTG3-3, TRS-AGA2-2, TRA-TGC6-1, TRR-CCG1-2, TRA-AGC7-1, TRA-AGC2-1, TRX-CAT1-3, TRI-AAT8-1, TRR-ACG2-3, TRV-CAC7-1, TRK-CTT2-4, TRM-CAT3-2, TRA-TGC2-1, TRL-AAG4-1, TRQ-CTG1-3, TRA-AGC10-1, TRI-TAT2-3, TRF-GAA1-1, TRQ-TTG2-1, TRT-AGT6-1, TRF-GAA5-1, TRA-TGC1-1, TRI-AAT5-1, TRS-GCT1-1, TRD-GTC2-6, TRS-GCT5-1, TRV-AAC4-1, TRY-GTA3-1, TRL-TAA2-1, TRR-ACG2-2, TRL-AAG3-1, TRF-GAA3-1, TRP-CGG2-1, TRV-AAC6-1, TRK-TTT6-1, TRQ-TTG3-2, TRQ-CTG1-2, TRV-CAC9-1, TRD-GTC3-1, TRL-AAG2-2, TRS-CGA3-1, TRI-AAT3-1, TRQ-CTG6-1, TRM-CAT3-1, TRS-GCT6-1, TRY-GTA6-1, TRP-AGG2-2, TRS-GCT4-1, TRV-CAC1-6, TRK-TTT3-3, TRL-CAA1-2, TRS-AGA2-4, TRF-GAA1-2, TRF-GAA6-1, TRQ-CTG2-1, TRY-GTA1-1, TRQ-CTG1-1, TRL-CAG1-7, TRD-GTC2-7, TRA-AGC2-2, TRX-CAT1-6, TRA-AGC3-1, TRT-CGT5-1, TRL-CAA2-1, TRM-CAT5-1, TRA-CGC1-1, TRI-AAT5-3, TRG-GCC2-3, TRX-CAT1-7, TRT-AGT2-1, TRQ-TTG3-1, TRQ-CTG5-1, TRK-TTT7-1, TRI-AAT5-2, TRY-GTA8-1, TRT-AGT2-2, TRT-TGT1-1, TRX-CAT1-5, TRA-AGC1-1, TRI-TAT3-1, TRS-AGA1-1, TRM-CAT4-2, TRA-AGC14-1, TRT-CGT3-1, TRV-CAC2-1, TRR-CCG1-1, TRV-CAC6-1, TRI-AAT6-1, TRT-AGT4-1, TRS-AGA2-1, TRK-TTT9-1, TRM-CAT4-3, TRA-CGC5-1, TRR-ACG1-1, TRA-CGC2-1, TRI-AAT7-2, TRV-TAC4-1, TRR-TCG2-1, TRR-ACG2-4, TRS-TGA3-1, TRT-AGT3-1, TRW-CCA3-1, LOC100270746, LOC100287329, ANKRD66, LOC100294145, MIR1275, MIR1236, LOC100422781, MIR3143, MIR3934, MIR3925, MIR3691, LINC02520, DAAM2-AS1, LOC100506207, ELOVL2-AS1, JARID2-AS1, LOC100506885, LINC01012, LINC02525, LINC01015, MICA, PSMB8-AS1, ECI2-DT, LOC100507547, LINC01016, MUC22, GMDS-DT, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5, RPS10-NUDT3, MSH5-SAPCD1, ATP6V1G2-DDX39B, PPT2-EGFL8, MIR4647, MIR4641, MIR3135B, MIR4646, MIR4640, MIR4639, MIR4645, MIR4642, MIR4462, MIR5689, MIR5004, MIR5683, MIR5690, LINC00581, FOXP4-AS1, PANDAR, LOC101926898, LOC101926915, LOC101926934, LOC101927691, FOXCUT, LOC101927730, LOC101927759, CDYL-AS1, LOC101927950, LOC101927972, LINC02522, LOC101928191, LOC101928253, LINC02530, LINC02543, ATXN1-AS1, LOC101928491, LOC101928519, ARMH2, LOC101928663, LOC101929006, MICA-AS1, LINC01149, TSBP1-AS1, LOC101929188, LOC101929243, BTBD9-AS1, LOC101929555, LOC101929705, MYMX, C2-AS1, LINC01108, MIR6833, MIR6834, MIR6835, MIR6891, MIR7111, MIR6721, MIR6720, MIR6832, MIR6780B, MIR6873, MIR7159, MIR7853, HCG21, LOC102724096, MICB-DT, LINC01276, SAPCD1-AS1, TRIM31-AS1, OFCC1, LINC02521, NQO2-AS1, LINC02533, LOC105374952, MIR548A1HG, LOC105374960, LOC105374972, LINC02828, LOC105374988, LINC02829, ERVK9-12, HCG20, LINC02570, LINC02571, ETV7-AS1, LOC105375075, RUNX2-AS1, IER3-AS1, LINC01394, MDC1-AS1, DDX39B-AS1, HLA-DQB1-AS1, MIR5689HG, LOC106780800, LOC106780803, LOC106780804, LOC106794091, LOC106799837, LOC106799842, LOC107063610, TBC1D7-LOC100130357, CNPY3-GNMT, LOC107403164, LOC107648851, LOC107648856, LOC107648859, LOC107648863, LOC107648864, LOC107648866, TRM-CAT5-2, LOC108004539, LOC108281120, LOC108281124, LOC108281148, LOC108663993, LOC108783645, DINOL, LOC108961161, LOC109611589, LOC109611593, TFAP2A-AS2, LOC110120645, LOC110120976, LOC110120988, LOC110121016, LOC110121052, LOC110121065, LOC110121068, LOC110121074, LOC110121080, LOC110121091, LOC110121112, LOC110121134, LOC110121220, LOC110121246, LOC110121247, LOC110121274, LOC110599562, LY6G6F-LY6G6D, LOC110631417, LINC02569, 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, LOC113174988, LOC113174989, LOC113174991
See casesPathogenic
(Jul 1, 2013)
no assertion criteria providedVCV000155430
2.
GRCh37:
Chr6:3224544-30624967
GRCh38:
Chr6:3224310-30657190
TRT-AGT4-1, TRS-AGA2-1, TRK-TTT9-1, TRM-CAT4-3, TRA-CGC5-1, TRR-ACG1-1, TRA-CGC2-1, TRI-AAT7-2, TRV-TAC4-1, TRR-TCG2-1, TRR-ACG2-4, TRS-TGA3-1, TRT-AGT3-1, TRW-CCA3-1, LOC100270746, LOC100422781, MIR3143, MIR3691, LOC100506207, ELOVL2-AS1, JARID2-AS1, LOC100506885, LINC01012, LINC01015, ECI2-DT, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5, MIR4639, MIR5689, MIR5683, LINC00581, CDYL-AS1, LOC101927950, LOC101927972, LINC02522, LOC101928191, LOC101928253, LINC02530, LINC02543, ATXN1-AS1, LOC101928491, LOC101928519, ARMH2, LOC101928663, LOC101929006, LINC01108, MIR7853, LOC102724096, TRIM31-AS1, OFCC1, LINC02533, LOC105374952, MIR548A1HG, LOC105374960, LOC105374972, LINC02828, LOC105374988, LINC02829, ERVK9-12, MIR5689HG, LOC106799837, LOC106799842, TBC1D7-LOC100130357, LOC107403164, TRM-CAT5-2, LOC108281120, LOC108663993, LOC108783645, TFAP2A-AS2, LOC110120976, LOC110121016, LOC110121052, LOC110121065, LOC110121068, LOC110121074, LOC110121091, LOC110121134, LOC110121246, LOC110121247, LOC110121274, LINC02569, 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, ABCF1, BMP6, BTN1A1, DSP, E2F3, EDN1, F13A1, GABBR1, GCNT2, GMPR, GNL1, GPLD1, GPX5, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC8, H2AC7, H2BC5, H2BC3, H1-1, HFE, HIVEP1, HLA-A, HLA-E, HLA-F, HLA-G, ID4, JARID2, MAK, MOG, NEDD9, PPP1R10, PRL, TRIM27, RREB1, ATXN1, SLC17A1, SOX4, SSR1, PPP1R11, TFAP2A, TPMT, TRI-AAT9-1, TRX-CAT1-2, TRX-CAT2-1, TRR-ACG1-2, TRR-TCG4-1, ZNF165, DEK, ALDH5A1, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, OR2H2, H4C9, H2AC13, H2AC15, H2AC14, H2AC16, H2AC6, H2AC4, H2AC17, H2BC8, H2BC13, H2BC15, H2BC14, H2BC7, H2BC6, H2BC9, H2BC10, H2BC4, H2BC17, H3C1, H3C4, H3C3, H3C6, H3C11, H3C8, H3C12, H3C10, H3C2, H4C1, H4C4, H4C6, H4C12, H4C11, H4C3, H4C8, H4C2, H4C5, H4C13, H4C7, DHX16, PRPF4B, H3C7, H2AC11, H2BC11, GCM2, CD83, CDYL, LY86, EEF1E1, RIPOR2, ZSCAN12, KIAA0319, NUP153, RANBP9, SLC17A4, TRIM10, SLC17A2, HCG9, PRSS16, BTN3A3, BTN2A2, ECI2, HMGN4, TRIM38, CAP2, UBD, SCGN, FARS2, SLC17A3, RPP40, TRIM31, BTN3A2, BTN3A1, BTN2A1, SIRT5, TRS-AGA2-3, TRS-TGA4-1, OR2B6, FAM50B, OR12D2, OR12D1, OR11A1, OR2W1, OR2J2, OR2H1, MRPS18B, MYLIP, ABT1, ZNRD1, SLC35B3, GMNN, TBC1D7, NRN1, NOL7, FAM8A1, DCDC2, TMEM14C, TDP2, HCG4, GFOD1, ELOVL2, CDKAL1, PAK1IP1, CARMIL1, ACOT13, MCUR1, TRIM39, LYRM4, MRS2, SLC22A23, BLOC1S5, KIF13A, ZSCAN31, ZNF322, RPP21, PGBD1, ATAT1, ZKSCAN3, ZSCAN16, RNF39, PRR3, HCG4B, TXNDC5, C6orf62, DTNBP1, OR5V1, OR2B2, OR12D3, TMEM14B, RIOK1, ADTRP, H2AC12, H2BC12, TRIM15, TRS-TGA2-1, POM121L2, ZBED9, MAS1L, TRIM40, NRSN1, SNRNP48, MBOAT1, HDGFL1, TRIM39-RPP21, C6orf136, H2AC1, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, LINC00518, PXDC1, ZSCAN23, NKAPL, FAM217A, RNF144B, H2BC1, GPX6, OFCC1, ZNF391, ZNF311, LY86-AS1, CAGE1, LOC285819, HLA-F-AS1, ZFP57, TUBB2B, C6orf52, HCP5B, KAAG1, NHLRC1, ZKSCAN4, LINC00533, PSMG4, STMND1, CASC15, LINC01623, C6orf201, ERVFRD-1, HCG14, HCG11, HCG15, HCG16, HCG18, KU-MEL-3, HCG17, OR1F12, OR2B3, OR2J1, OR2J3, OR14J1, OR10C1, LOC554223, LOC643327, PPP1R3G, SNORD32B, MIR548A1, HULC, NBAT1, LINC01556, TRS-AGA3-1, TRV-AAC1-5, TRV-AAC3-1, TRA-AGC11-1, TMEM170B, SCARNA27, MIR877, ZSCAN16-AS1, LYRM4-AS1, TRR-TCT5-1, LOC100129636, TFAP2A-AS1, LOC100130357, LOC100131289, LINC00240, TRH-GTG1-5, TRS-GCT2-1, TRV-AAC5-1, TRE-CTC1-6, TRI-TAT2-2, TRA-CGC4-1, TRR-TCG5-1, TRT-CGT1-1, TRL-CAA3-1, TRX-CAT1-4, TRS-CGA2-1, TRA-AGC6-1, TRA-AGC4-1, TRA-AGC5-1, TRW-CCA3-2, TRK-TTT4-1, TRA-TGC5-1, TRL-TAA4-1, TRS-AGA4-1, TRI-AAT2-1, TRQ-TTG3-3, TRS-AGA2-2, TRA-TGC6-1, TRR-CCG1-2, TRA-AGC7-1, TRR-ACG2-2, TRA-AGC2-1, TRX-CAT1-3, TRI-AAT8-1, TRR-ACG2-3, TRV-CAC7-1, TRK-CTT2-4, TRM-CAT3-2, TRA-TGC2-1, TRL-AAG4-1, TRQ-CTG1-3, TRA-AGC10-1, TRI-TAT2-3, TRF-GAA1-1, TRQ-TTG2-1, TRT-AGT6-1, TRF-GAA5-1, TRL-TAA2-1, TRA-TGC1-1, TRI-AAT5-1, TRS-GCT1-1, TRD-GTC2-6, TRS-GCT5-1, TRV-AAC4-1, TRY-GTA3-1, TRL-AAG3-1, TRF-GAA3-1, TRP-CGG2-1, TRV-AAC6-1, TRK-TTT6-1, TRQ-TTG3-2, TRQ-CTG1-2, TRV-CAC9-1, TRD-GTC3-1, TRL-AAG2-2, TRS-CGA3-1, TRI-AAT3-1, TRQ-CTG6-1, TRM-CAT3-1, TRS-GCT6-1, TRY-GTA6-1, TRP-AGG2-2, TRS-GCT4-1, TRV-CAC1-6, TRK-TTT3-3, TRL-CAA1-2, TRS-AGA2-4, TRF-GAA1-2, TRF-GAA6-1, TRQ-CTG2-1, TRY-GTA1-1, TRQ-CTG1-1, TRL-CAG1-7, TRD-GTC2-7, TRA-AGC2-2, TRX-CAT1-6, TRA-AGC3-1, TRT-CGT5-1, TRL-CAA2-1, TRM-CAT5-1, TRA-CGC1-1, TRI-AAT5-3, TRG-GCC2-3, TRX-CAT1-7, TRT-AGT2-1, TRQ-TTG3-1, TRQ-CTG5-1, TRK-TTT7-1, TRI-AAT5-2, TRY-GTA8-1, TRT-AGT2-2, TRT-TGT1-1, TRX-CAT1-5, TRA-AGC1-1, TRI-TAT3-1, TRS-AGA1-1, TRM-CAT4-2, TRA-AGC14-1, TRT-CGT3-1, TRV-CAC2-1, TRR-CCG1-1, TRV-CAC6-1, TRI-AAT6-1
See casesPathogenic
(Jun 11, 2012)
no assertion criteria providedVCV000150044
3.
GRCh37:
Chr6:30608182
GRCh38:
Chr6:30640405
ATAT1F189C, F177CSevere MyopiaUncertain significance
(Dec 17, 2018)
no assertion criteria providedVCV000623426
4.
GRCh37:
Chr6:29455465-81447367
USP49, ZNF451, SENP6, FBXO9, SLC17A5, FILIP1, BRPF3, GNMT, TNFRSF21, TINAG, MRPS18B, TMEM14A, C6orf15, PRICKLE4, PACSIN1, ETV7, ZNRD1, DEF6, SNHG32, MRPL2, CYP39A1, LGSN, CUTA, PPIL1, RAB23, CLIC5, TREM2, TREM1, HMGCLL1, CCHCR1, GTPBP2, UHRF1BP1, PHIP, CENPQ, MRPS18A, MRPS10, LRRC1, TMEM63B, DDX43, TBC1D22B, TMEM30A, SAYSD1, LMBRD1, TRERF1, APOM, BTNL2, KCNQ5, TRIM39, VARS2, LRFN2, AARS2, XPO5, FAM135A, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, LY6G6D, ENPP5, ELOVL5, SMAP1, ZFAND3, GPSM3, FKBPL, ILRUN, MRPL14, DLK2, OGFRL1, TREML2, RPP21, ATAT1, RNF39, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, TFAP2D, PRRT1, EGFL8, COL21A1, SH3BGRL2, KCNK16, UQCC2, TTBK1, PAQR8, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, MLIP, TJAP1, IL17F, EFHC1, BTBD9, CGAS, FOXP4, KLHDC3, SLC26A8, MAS1L, IP6K3, RN7SK, TAF8, IRAK1BP1, B3GAT2, SDHAF4, CD109, C6orf141, TRIM40, MUCL3, KHDC3L, CCDC167, LCA5, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, TUBB, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, DEFB110, DEFB112, DEFB113, DEFB114, CLPSL1, NCR3, LY6G6F, MDGA1, ADGRF1, HCG22, PNPLA1, TREML4, RPL7L1, DPPA5, TREML1, EYS, ZFP57, SLC35B2, HCG26, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, MUC21, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, PTCHD4, MIR133B, C6orf132, MIR877, KHDC1L, TOMM6, ANKRD66, ERVH-3, MICA, MUC22, LOC101926915, LOC101927189, ABCF1, CRISP1, AGER, AIF1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, BMP5, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCND3, CDC5L, CDKN1A, CDSN, CLIC1, CLPS, COL9A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CYP21A2, DAXX, DNAH8, DXO, EEF1A1, SLC29A1, FANCE, FKBP5, GABBR1, GCLC, GLO1, GLP1R, GSTA4, GNL1, GRM4, GSTA1, GSTA2, GSTA3, GTF2H4, GUCA1A, GUCA1B, HCRTR2, HLA-DRB5, 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-G, HMGA1, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, IL17A, IMPG1, ITPR3, KIFC1, LTA, LTB, MCM3, MDFI, MEA1, MEP1A, MICB, MLN, MOCS1, MOG, MSH5, MMUT, MYO6, RPL10A, NEU1, NFKBIE, NFKBIL1, NFYA, NOTCH4, PBX2, PEX6, PGC, PGK2, PHF1, PIM1, PKHD1, POLH, MAPK13, POU5F1, PPARD, PPP1R10, PPP2R5D, PSMB8, PSMB9, PTK7, RGL2, PRPH2, RHAG, RING1, BRD2, RNF5, RPS10, RPS18, RXRB, VPS52, SRSF3, SKIV2L, SNRPC, SRF, SRPK1, ELOVL4, TAF11, TAP1, TCP11, TAP2, TAPBP, TBCC, TCF19, PPP1R11, TEAD3, TFAP2B, TNF, TNXB, CRISP2, TTK, TULP1, PTP4A1, VARS1, VEGFA, ZNF76, TRIM26, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, DHX16, SUPT3H, GCM1, KCNK5, B3GALT4, SYNGAP1, STK19, IER3, RNF8, WDR46, ZBTB22, HMGN3, PPT2, NCR2, MED20, SLC25A27, BAG2, POLR1C, MAD2L1BP, MDC1, TRAM2, CUL7, TRIM10, FLOT1, RCAN2, CRISP3, PFDN6, UBD, FRS3, AGPAT1, DNPH1, TSBP1, CNPY3, SLC22A7, HCP5, EHMT2, APOBEC2, STK38, TRIM31, CAPN11, NUDT3, NRM, CILK1, ENPP4, RIMS1, CMTR1, CUL9, ANKS1A, UBR2, PHF3, DAAM2, BICRAL, DDAH2, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, YIPF3
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625706
5.
GRCh37:
Chr6:28130359-32108367
not providedUncertain significance
(Sep 1, 2011)
no assertion criteria providedVCV000608956
6.
GRCh37:
Chr6:165632-170919470
PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, H2BC1, SCML4, GPX6, SHPRH, ADGRF1, NCR3, LY6G6F, OFCC1, MDGA1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, PTCHD4, OR2J3, OR14J1, OR10C1, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189, ABCF1, ACAT2, CRISP1, BYSL, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, COX7A2, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CNR1, CDSN, CGA, CLIC1, CLPS, CCR6, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, ATF6B, MAPK14, CSNK2B, CCN2, EPB41L2, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC8, H2AC7, H2BC5, H2BC3, H1-1, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, ID4, 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-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, LTB, MARCKS, MAK, MAN1A1, MAS1, MCM3, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MOG, NFYA, MSH5, MMUT, MYB, MYO6, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NMBR, NQO2, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PCMT1, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, PSMB8, PRPH2, PSMB9, PTK7, PTPRK, RGL2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS6KA2, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TBP, TAP1, TAP2, TAPBP, TBCC, TCF19, TCF21, TCP1, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, CRISP2, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS1, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, H4C9, H2AC13, H2AC15, H2AC14, H2AC16, H2AC6, H2AC4, H2AC17, H2BC8, H2BC13, H2BC15, H2BC14, H2BC7, H2BC6, H2BC9, H2BC10, H2BC4, H2BC17, H3C1, H3C4, H3C3, H3C6, H3C11, H3C8, H3C12, H3C10, H3C2, H4C1, H4C4, H4C6, H4C12, H4C11, H4C3, H4C8, H4C2, H4C5, H4C13, H4C7, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, CCN6, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, H3C7, H2AC11, H2BC11, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, TRDN, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, HBS1L, AGPAT1, SLC35A1, SCGN, DNPH1, SLC17A3, TSBP1, FARS2, FUT9, CNPY3, TRAF3IP2, RPP40, FRS3, PDE10A, SLC22A7, HCP5, RAB32, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, TRIM31, KATNA1, CEP43, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, ENPP4, NRM, STK38, SCAF8, CEP162, CILK1, ANKRD6, RIMS1, DOP1A, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, GNMT, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MRPS18B, TMEM14A, MRPL18, NDUFAF4, C6orf15, MYLIP, ABT1, DSE, PRICKLE4, PACSIN1, ZNRD1, CLDN20, NOX3, DEF6, SNHG32, SLC35B3, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, MTRES1, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, TENT5A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, POPDC3, GPSM3, FKBPL, KIF13A, PERP, SMOC2, ZSCAN31, ALDH8A1, ILRUN, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, C6orf62, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, H2AC12, H2BC12, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, MUCL3, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, ZUP1, TUBB, C6orf163, AK9, NT5DC1, CALHM4, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, H2AC1, KDM1B, RBM24, RNF182
not providedPathogenic
(Oct 31, 2014)
no assertion criteria providedVCV000608768
7.
GRCh37:
Chr6:108666-170980171
TMEM14A, MRPL18, NDUFAF4, C6orf15, MYLIP, ABT1, DSE, PRICKLE4, PACSIN1, ZNRD1, CLDN20, NOX3, DEF6, SNHG32, SLC35B3, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, MTRES1, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, TENT5A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, POPDC3, GPSM3, FKBPL, KIF13A, PERP, SMOC2, ZSCAN31, ALDH8A1, ILRUN, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, C6orf62, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, H2AC12, H2BC12, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, MUCL3, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, ZUP1, TUBB, C6orf163, AK9, NT5DC1, CALHM4, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, H2AC1, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, H2BC1, SCML4, GPX6, SHPRH, ADGRF1, NCR3, LY6G6F, OFCC1, MDGA1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, PTCHD4, OR2J3, OR14J1, OR10C1, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189, ABCF1, ACAT2, CRISP1, BYSL, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CNR1, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, COX7A2, CDSN, CGA, CLIC1, CLPS, CCR6, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, ATF6B, MAPK14, CSNK2B, CCN2, EPB41L2, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC8, H2AC7, H2BC5, H2BC3, H1-1, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, ID4, 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-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, LTB, MARCKS, MAK, MAN1A1, MAS1, MCM3, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MOG, NFYA, MSH5, MMUT, MYB, MYO6, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NMBR, NQO2, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PCMT1, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, PSMB8, PRPH2, PSMB9, PTK7, PTPRK, RGL2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS6KA2, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TBP, TAP1, TAP2, TAPBP, TBCC, TCF19, TCF21, TCP1, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, CRISP2, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS1, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, H4C9, H2AC13, H2AC15, H2AC14, H2AC16, H2AC6, H2AC4, H2AC17, H2BC8, H2BC13, H2BC15, H2BC14, H2BC7, H2BC6, H2BC9, H2BC10, H2BC4, H2BC17, H3C1, H3C4, H3C3, H3C6, H3C11, H3C8, H3C12, H3C10, H3C2, H4C1, H4C4, H4C6, H4C12, H4C11, H4C3, H4C8, H4C2, H4C5, H4C13, H4C7, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, CCN6, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, H3C7, H2AC11, H2BC11, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, TRDN, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, SLC17A3, AGPAT1, SLC35A1, SCGN, DNPH1, HBS1L, TSBP1, FARS2, FUT9, CNPY3, TRAF3IP2, RPP40, FRS3, PDE10A, SLC22A7, HCP5, RAB32, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, TRIM31, KATNA1, CEP43, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, ENPP4, NRM, STK38, SCAF8, CEP162, CILK1, ANKRD6, RIMS1, DOP1A, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, GNMT, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MRPS18B
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000608767
8.
GRCh37:
Chr6:60107-171054786
PSMB9, PTK7, PTPRK, RGL2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS6KA2, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TBP, TAP1, TAP2, TAPBP, TBCC, TCF19, TCF21, TCP1, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, CRISP2, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS1, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, H4C9, H2AC13, H2AC15, H2AC14, H2AC16, H2AC6, H2AC4, H2AC17, H2BC8, H2BC13, H2BC15, H2BC14, H2BC7, H2BC6, H2BC9, H2BC10, H2BC4, H2BC17, H3C1, H3C4, H3C3, H3C6, H3C11, H3C8, H3C12, H3C10, H3C2, H4C1, H4C4, H4C6, H4C12, H4C11, H4C3, H4C8, H4C2, H4C5, H4C13, H4C7, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, CCN6, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, H3C7, H2AC11, H2BC11, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, TRDN, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, TRAF3IP2, AGPAT1, SLC35A1, SCGN, DNPH1, HBS1L, SLC17A3, RPP40, FRS3, PDE10A, SLC22A7, HCP5, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, RAB32, TRIM31, KATNA1, CEP43, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, NRM, STK38, SCAF8, CEP162, CILK1, ENPP4, ANKRD6, RIMS1, DOP1A, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, GNMT, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MRPS18B, TMEM14A, MRPL18, NDUFAF4, C6orf15, MYLIP, ABT1, DSE, PRICKLE4, PACSIN1, SLC35B3, ZNRD1, CLDN20, NOX3, DEF6, SNHG32, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, MTRES1, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, TENT5A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, POPDC3, GPSM3, FKBPL, KIF13A, PERP, SMOC2, ZSCAN31, ALDH8A1, ILRUN, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, C6orf62, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, H2AC12, H2BC12, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, MUCL3, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, ZUP1, TUBB, C6orf163, AK9, NT5DC1, CALHM4, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, H2AC1, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, H2BC1, SCML4, GPX6, SHPRH, ADGRF1, NCR3, LY6G6F, OFCC1, MDGA1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, PTCHD4, OR2J3, OR14J1, OR10C1, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189, ABCF1, ACAT2, CRISP1, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, PRDM1, TSBP1, FARS2, FUT9, CNPY3, BMP5, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CDSN, CGA, CLIC1, CLPS, CCR6, CNR1, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CCN2, EPB41L2, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC8, H2AC7, H2BC5, H2BC3, H1-1, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, ID4, 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-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, LTB, MARCKS, MAK, MAN1A1, MAS1, MCM3, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MOG, NFYA, MSH5, MMUT, MYB, MYO6, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NMBR, NQO2, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PCMT1, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, PSMB8, PRPH2
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000608764
9.
GRCh37:
Chr6:156975-170919482
UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, TENT5A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, RARS2, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, POPDC3, GPSM3, FKBPL, KIF13A, PERP, SMOC2, ZSCAN31, ALDH8A1, ILRUN, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, C6orf62, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, H2AC12, H2BC12, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, MUCL3, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, NRM, STK38, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, ZUP1, TUBB, C6orf163, AK9, NT5DC1, CALHM4, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, H2AC1, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, H2BC1, SCML4, GPX6, SHPRH, ADGRF1, NCR3, LY6G6F, OFCC1, MDGA1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, PTCHD4, OR2J3, OR14J1, OR10C1, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189, ABCF1, ACAT2, CRISP1, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, BYSL, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CNR1, CDSN, CGA, CLIC1, CLPS, CCR6, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CCN2, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPB41L2, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC8, H2AC7, H2BC5, H2BC3, H1-1, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, 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-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, ID4, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, MCM3, LTB, MARCKS, MAK, MAN1A1, MAS1, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MYO6, MOG, MSH5, MMUT, MYB, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NMBR, NQO2, PCMT1, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, RPS6KA2, PSMB8, PSMB9, PTK7, PTPRK, RGL2, PRPH2, REV3L, TRIM27, RHAG,