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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:156974-46757028
GRCh38:
Chr6:156974-46789291
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, H1-2, GTF2H4, GTPBP2, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, 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, H2BC6-AS1, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HCG11, HCG14, HCG15, HCG17, HCG18, HCG20, HCG21, HCG22, HUS1B, HCG23, HCG24, HCG25, HLA-DQB1-AS1, HCG26, HCG27, HCG4, HSP90AB1, HCG4B, HCG9, HCP5, HLA-DRB5, 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, JARID2-DT, 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, LINC02976, LINC02980, LINC03003, LINC03005, LINC03040, LINC03066, LNC-LBCS, LOC100130357, LOC100131289, LOC100287329, LOC100294145, LOC100422781, LOC100506207, LOC100507336, LOC100507547, LOC101926915, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC101929309, LOC101929535, LOC101929555, LOC102724096, LOC102724749, LOC102724765, LOC105374901, LOC105374928, LOC105374943, LOC105374960, LOC105374988, LOC105374989, LOC105375022, LOC105375026, LOC105375050, LOC105375075, LOC105379699, LOC106780800, LOC106780803, LOC106780804, LOC106794091, LOC106799837, LOC106799842, LOC107063610, LOC107403164, LOC107648851, LOC107648856, LOC107648859, LOC107648863, LOC107648864, LOC107648866, LOC107986531, LOC107986596, LOC108004539, LOC108281120, LOC108281124, LOC108281148, LOC108663993, LOC108961161, LOC109611589, LOC109611593, LOC110120645, LOC110120976, LOC110120988, LOC110121016, LOC110121052, LOC110121065, LOC110121068, LOC110121074, LOC110121080, LOC110121091, LOC110121112, LOC110121134, LOC110121220, 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, LOC113174988, LOC113174989, LOC113174991, LOC113174992, LOC113174993, LOC113174995, LOC113174996, 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, NHLRC1, NEU1, NFKBIE, NFKBIL1, NFYA, NKAPL, NOL7, NOTCH4, NQO2, NQO2-AS1, NRM, NRN1, NRSN1, NUDT3, NUP153, NUP153-AS1, OARD1, OFCC1, OR10C1, OR11A1, OR12D1, OR12D2, OR12D3, OR2B8P, OR14J1, OR1F12, OR2B2, OR2B3, OR2B6, OR2H1, OR2H2, OR2I1P, OR2J1, OR2J2, OR2J3, OR2W1, OR2W1-AS1, OR5V1, PACSIN1, PAK1IP1, PANDAR, PBX2, PEX6, PFDN6, PGBD1, PGC, PHACTR1, PHF1, PI16, PIM1, PLA2G7, PNPLA1, POLH, POLR1C, POLR1H, POM121L2, POU5F1, PPARD, PPIL1, PPP1R3G, PPP1R10, PPP1R11, PPP1R18, PPP2R5D, PPT2, PPT2-EGFL8, PRICKLE4, PRL, PRPF4B, PRPH2, PRR3, PRRC2A, PRRT1, PRSS16, PSMB8, PXDC1, PSMB8-AS1, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PSORS1C3, PTCRA, PTK7, PXT1, RAB44, RANBP9, RBM24, RCAN2, RCAN2-DT, RGL2, RING1, RIOK1, RIPK1, RIPOR2, RNF144B, RNF182, RNF39, RNF5, RNF8, RPL10A, RPL7L1, RPP21, RPP40, RPS10, RPS10-NUDT3, RPS18, RREB1, RRP36, RSPH9, RUNX2, RUNX2-AS1, RXRB, SAPCD1, SAPCD1-AS1, SAYSD1, SCAND3, SCARNA27, SCGN, SCIRT, SCUBE3, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SFTA2, SIRT5, SKIC2, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A23, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC35B2, SLC35B3, SLC39A7, SLC44A4, SMIM13, SMIM29, SMIM40, SNHG32, SNORA38, SRF, SNORD117, SNORD32B, SNORD48, SNORD52, SNORD84, SNRNP48, SNRPC, SOX4, SPATS1, SPDEF, SRPK1, SRSF3, SSR1, STK19, STK38, STMND1, SUPT3H, SYCP2L, SYNGAP1, SYNGAP1-AS1, TAF11, TAF8, TAP1, TAP2, TAPBP, TBC1D22B, TBC1D7, TBC1D7-LOC100130357, TBCC, TCF19, TCP11, TCTE1, TDP2, TDRD6, TDRD6-AS1, TDRG1, TEAD3, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TFEB, TJAP1, TMEM14B, TMEM14B-DT, TMEM14C, TMEM151B, TMEM170B, TMEM217, TMEM217B, TMEM63B, TNF, TNXB, TOMM6, TPMT, TRA-AGC1-1, TRA-AGC10-1, TRA-AGC11-1, TRA-AGC12-1, TRA-AGC14-1, TRA-AGC14-2, TRA-AGC2-1, TRA-AGC2-2, TRA-AGC3-1, TRA-AGC4-1, TRA-AGC5-1, TRA-AGC6-1, TRA-AGC7-1, TRA-AGC9-1, TRA-CGC1-1, TRA-CGC2-1, TRA-CGC4-1, TRA-TGC1-1, TRA-TGC2-1, TRA-TGC5-1, TRA-TGC6-1, TRA-TGC7-1, TRD-GTC2-6, TRD-GTC2-7, TRD-GTC3-1, TRE-CTC1-6, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRF-GAA1-1, TRF-GAA1-2, TRF-GAA3-1, TRF-GAA4-1, TRI-AAT3-1, TRF-GAA5-1, TRF-GAA6-1, TRG-GCC2-3, TRH-GTG1-5, TRI-AAT2-1, TRI-AAT5-1, TRI-AAT5-2, TRI-AAT5-3, TRI-AAT6-1, TRI-AAT7-1, TRI-AAT7-2, TRI-AAT8-1, TRI-AAT9-1, TRI-TAT2-2, TRI-TAT2-3, TRI-TAT3-1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM31-AS1, TRIM38, TRK-CTT2-4, TRIM39, TRIM39-RPP21, TRIM40, TRK-TTT3-3, TRK-TTT4-1, TRK-TTT6-1, TRK-TTT7-1, TRK-TTT9-1, TRL-AAG2-2, TRL-AAG3-1, TRL-AAG4-1, TRL-CAA1-1, TRL-CAA1-2, TRL-CAA2-1, TRL-CAA3-1, TRL-CAG1-7, TRL-TAA2-1, TRL-TAA4-1, TRM-CAT3-1, TRM-CAT3-2, TRM-CAT4-1, TRM-CAT4-2, TRM-CAT4-3, TRM-CAT5-1, TRM-CAT5-2, TRP-AGG2-2, TRP-CGG2-1, TRQ-CTG1-1, TRQ-CTG1-2, TRQ-TTG3-3, TRQ-CTG1-3, TRQ-CTG2-1, TRQ-CTG5-1, TRQ-CTG6-1, TRQ-TTG2-1, TRQ-TTG3-1, TRQ-TTG3-2, TRR-ACG1-1, TRR-ACG1-2, TRR-ACG2-2, TRR-ACG2-3, TRR-ACG2-4, TRR-CCG1-1, TRR-CCG1-2, TRR-TCG2-1, TRR-TCG4-1, TRR-TCG5-1, TRR-TCT5-1, TRS-AGA1-1, TRS-AGA2-1, TRS-AGA2-2, TRS-AGA2-3, TRS-AGA2-4, TRS-AGA3-1, TRS-AGA4-1, TRS-CGA2-1, TRS-CGA3-1, TRS-GCT1-1, TRS-GCT2-1, TRS-GCT4-1, TRS-GCT5-1, TRS-GCT6-1, TRS-TGA2-1, TRS-TGA3-1, TRS-TGA4-1, TRT-AGT2-1, TRT-AGT2-2, TRT-AGT3-1, TRT-AGT4-1, TRT-AGT6-1, TRT-CGT1-1, TRT-CGT3-1, TRT-CGT5-1, TRT-TGT1-1, TRV-AAC1-5, TRV-AAC3-1, TRV-AAC4-1, TRV-AAC5-1, TRV-AAC6-1, TRV-CAC1-6, TRV-CAC2-1, TRV-CAC6-1, TRV-CAC7-1, TRV-CAC9-1, TRV-TAC4-1, TRW-CCA3-1, TRW-CCA3-2, TRX-CAT1-2, TRX-CAT1-3, TRX-CAT1-4, TRX-CAT1-5, TRX-CAT1-6, TRX-CAT1-7, TRX-CAT2-1, TRY-GTA1-1, TRY-GTA3-1, TRY-GTA6-1, TRY-GTA8-1, TSBP1, TSBP1-AS1, TSPO2, TTBK1, TUBB, TUBB2A, TUBB2B, TULP1, TXNDC5, UBD, UBR2, UNC5CL, UQCC2, USP49, VARS1, VARS2, VEGFA, VPS52, VWA7, ZNF184, WDR46, WRNIP1, XPO5, YIPF3, ZBED9-AS1, ZBTB12, ZBTB22, ZBTB9, ZFAND3, ZSCAN12, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF311, ZNF318, ZNF322, ZNF391, ZNF76, ZSCAN16, ZSCAN16-AS1, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, AARS2, ABCC10, ABCF1, ABHD16A, ABT1, ACOT13, ADTRP, AGER, AGPAT1, AIF1, ALDH5A1, ANKRD66, ANKS1A, APOBEC2, APOM, ARMC12, ARMH2, ATAT1, ATF6B, BLOC1S5-TXNDC5, ATP6V1G2, ATP6V1G2-DDX39B, ATXN1, ATXN1-AS1, B3GALT4, BAG6, BAK1, BICRAL, BLOC1S5, BLTP3A, BMP6, BNIP5, BPHL, BRD2, BRPF3, BRPF3-AS1, BTBD9, BTBD9-AS1, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, BYSL, C2, C2-AS1, C4A, 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, CIMIP3, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CMTR1, CNPY3, CNPY3-GNMT, COL11A2, CPNE5, CRIP3, CSNK2B, CUL7, CUL9, CUTA, CYP21A2, LOC129996227, LOC129996228, LOC129996229, LOC129996230, LOC129996231, LOC129996232, LOC129996233, LOC129996234, LOC129996235, LOC129996236, LOC129996237, LOC129996238, LOC129996239, LOC129996240, LOC129996241, LOC129996242, LOC129996243, LOC129996244, LOC129996245, LOC129996246, LOC129996247, LOC129996248, LOC129996249, LOC129996250, LOC129996251, LOC129996252, LOC129996253, LOC129996254, LOC129996255, LOC129996256, LOC129996257, LOC129996258, LOC129996259, LOC129996260, LOC129996261, LOC129996262, LOC129996263, LOC129996264, LOC129996265, LOC129996266, LOC129996267, LOC129996268, LOC129996269, LOC129996270, LOC129996271, LOC129996272, LOC129996273, LOC129996274, LOC129996275, LOC129996276, LOC129996277, LOC129996278, LOC129996279, LOC129996280, LOC129996281, LOC129996282, LOC129996283, LOC129996284, LOC129996285, LOC129996286, LOC129996287, LOC129996288, LOC129996289, LOC129996290, LOC129996291, LOC129996292, LOC129996293, LOC129996294, LOC129996295, LOC129996296, LOC129996297, LOC129996298, LOC129996299, LOC129996300, LOC129996301, LOC129996302, LOC129996303, LOC129996304, LOC129996305, LOC129996306, LOC129996307, LOC129996308, LOC129996309, LOC129996310, LOC129996311, LOC129996312, LOC129996313, LOC129996314, LOC129996315, LOC129996316, LOC129996317, LOC129996318, LOC129996319, LOC129996320, LOC129996321, LOC129996322, LOC129996323, LOC129996324, LOC129996325, LOC129996326, LOC129996327, LOC129996328, LOC129996329, LOC129996330, LOC129996331, LOC129996332, LOC129996333, LOC129996334, LOC129996335, LOC129996336, LOC129996337, LOC129996338, LOC129996339, LOC129996340, LOC129996341, LOC129996342, LOC129996343, LOC129996344, LOC129996345, LOC129996346, LOC129996347, LOC129996348, LOC129996349, LOC129996350, LOC129996351, LOC129996352, LOC129996353, LOC129996354, LOC129996355, LOC129996356, LOC129996357, LOC129996358, LOC129996359, LOC129996360, LOC129996361, LOC129996362, LOC129996363, LOC129996364, LOC129996365, LOC129996366, LOC129996367, LOC129996368, LOC129996369, LOC129996370, LOC129996371, LOC129996372, LOC129996373, LOC129996374, LOC129996375, LOC129996376, LOC129996377, LOC129996378, LOC129996379, LOC129996380, LOC129996381, LOC129996382, LOC129996383, LOC129996384, LOC129996385, LOC129996386, LOC129996387, LOC129996388, LOC129996389, LOC129996390, LOC129996391, LOC129996392, LOC129996393, LOC129996394, LOC129996395, LOC129996396, LOC129996397, LOC129996398, LOC129996399, LOC129996400, LOC129996401, LOC129996402, LOC129996403, LOC129996404, LOC129996405, LOC129996406, LOC129996407, LOC129996408, LOC129996409, LOC129996410, LOC129996411, LOC129996412, LOC129996413, LOC129996414, LOC129996415, LOC129996416, LOC129996417, LOC129996418, LOC129996419, LOC129996420, LOC129996421, LOC129996422, LOC129996423, LOC129996424, LOC129996425, LOC129996426, LOC129996427, LOC129996428, LOC129996429, LOC129996430, LOC129996431, LOC129996432, LOC129996433, LOC129996434, LOC129996435, LOC129996436, LOC129996437, LOC129996438, LOC129996439, LOC129996440, LOC129996441, LOC129996442, LOC129996443, LOC129996444, LOC129996445, LOC129996446, LOC129996447, LOC129996448, LOC129996449, LOC129996450, LOC129996451, LOC129996452, LOC129996453, LOC129996454, LOC129996455, LOC129996456, LOC129996457, LOC129996458, LOC129996459, LOC129996460, LOC129996461, LOC129996462, LOC129996463, LOC129996464, LOC129996465, LOC129996466, LOC129996467, LOC129996468, LOC129996469, LOC129996470, LOC129996471, LOC129996472, LOC129996473, LOC129996474, LOC129996475, LOC129996476, LOC129996477, LOC129996478, LOC129996479, LOC129996480, LOC129996481, LOC129996482, LOC129996483, LOC129996484, LOC129996485, LOC129996486, LOC129996487, LOC129996488, LOC129996489, LOC129996490, LOC129996491, LOC129996492, LOC129996493, LOC129996494, LOC129996495, LOC129996496, LOC129996497, LOC129996498, LOC129996499, LOC129996500, LOC129996501, LOC129996502, LOC129996503, LOC129996504, LOC129996505, LOC129996506, LOC129996507, LOC129996508, LOC129996509, LOC129996510, LOC129996511, LOC129996512, LOC129996513, LOC129996514, LOC129996515, LOC129996516, LOC129996517, LOC129996518, LOC129996519, LOC129996520, LOC129996521, LOC129996522, LOC129996523, LOC129996524, LOC129996525, LOC129996526, LOC129996527, LOC129996528, LOC129996529, 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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, LOC129389423, LOC129389424, LOC129389425, LOC129389426, LOC129389427, LOC129389428, LOC129389429, LOC129389430, LOC129389431, LOC129389432, LOC129389433, LOC129389434, LOC129389435, LOC129389436, LOC129389437, LOC129389438, LOC129389439, LOC129389440, LOC129389441, LOC129389442, LOC129389443, LOC129389444, LOC129389445, LOC129389446, LOC129389447, LOC129389448, LOC129389449, LOC129389450, LOC129389451, LOC129389452, LOC129389453, LOC129389454, LOC129389455, LOC129389456, LOC129389457, LOC129389458, 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LOC129995591, LOC129995592, LOC129995593, LOC129995594, LOC129995595, LOC129995596, LOC129995597, LOC129995598, LOC129995599, LOC129995600, LOC129995601, LOC129995602, LOC129995603, LOC129995604, LOC129995605, LOC129995606, LOC129995607, LOC129995608, LOC129995609, LOC129995610, LOC129995611, LOC129995612, LOC129995613, LOC129995614, LOC129995615, LOC129995616, LOC129995617, LOC129995618, LOC129995619, LOC129995620, LOC129995621, LOC129995622, LOC129995623, LOC129995624, LOC129995625, LOC129995626, LOC129995627, LOC129995628, LOC129995629, LOC129995630, LOC129995631, LOC129995632, LOC129995633, LOC129995634, LOC129995635, LOC129995636, LOC129995637, LOC129995638, LOC129995639, LOC129995640, LOC129995641, LOC129995642, LOC129995643, LOC129995644, LOC129995645, LOC129995646, LOC129995647, LOC129995648, LOC129995649, LOC129995650, LOC129995651, LOC129995652, LOC129995653, LOC129995654, LOC129995655, LOC129995656, LOC129995657, LOC129995658, LOC129995659, LOC129995660, LOC129995661, LOC129995662, LOC129995663, LOC129995664, LOC129995665, LOC129995666, LOC129995667, LOC129995668, LOC129995669, LOC129995670, LOC129995671, LOC129995672, LOC129995673, LOC129995674, LOC129995675, LOC129995676, LOC129995677, LOC129995678, LOC129995679, LOC129995680, LOC129995681, LOC129995682, LOC129995683, LOC129995684, LOC129995685, LOC129995686, LOC129995687, LOC129995688, LOC129995689, LOC129995690, LOC129995691, LOC129995692, LOC129995693, LOC129995694, LOC129995695, LOC129995696, LOC129995697, LOC129995698, LOC129995699, LOC129995700, LOC129995701, LOC129995702, LOC129995703, LOC129995704, LOC129995705, LOC129995706, LOC129995707, LOC129995708, LOC129995709, LOC129995710, LOC129995711, LOC129995712, LOC129995713, LOC129995714
See casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
2.
GRCh37:
Chr6:3224544-30624967
GRCh38:
Chr6:3224310-30657190
LOC129995913, LOC129995914, LOC129995915, LOC129995916, LOC129995917, LOC129995918, LOC129995919, LOC129995920, LOC129995921, LOC129995922, LOC129995923, LOC129995924, LOC129995925, LOC129995926, LOC129995927, LOC129995928, LOC129995929, LOC129995930, LOC129995931, LOC129995932, LOC129995933, LOC129995934, LOC129995935, LOC129995936, LOC129995937, LOC129995938, LOC129995939, LOC129995940, LOC129995941, LOC129995942, LOC129995943, LOC129995944, LOC129995945, LOC129995946, LOC129995947, LOC129995948, LOC129995949, LOC129995950, LOC129995951, LOC129995952, LOC129995953, LOC129995954, LOC129995955, LOC129995956, LOC129995957, LOC129995958, LOC129995959, LOC129995960, LOC129995961, LOC129995962, LOC129995963, LOC129995964, LOC129995965, LOC129995966, LOC129995967, LOC129995968, LOC129995969, LOC129995970, LOC129995971, LOC129995972, LOC129995973, LOC129995974, LOC129995975, LOC129995976, LOC129995977, LOC129995978, LOC129995979, LOC129995980, LOC129995981, LOC129995982, LOC129995983, LOC129995984, LOC129995985, LOC129995986, LOC129995987, LOC129995988, LOC129995989, LOC129995990, LOC129995991, LOC129995992, LOC129995993, LOC129995994, LOC129995995, LOC129995996, LOC129995997, LOC129995998, LOC129995999, LOC129996000, LOC129996001, LOC129996002, LOC129996003, LOC129996004, LOC129996005, LOC129996006, LOC129996007, LOC129996008, LOC129996009, LOC129996010, LOC129996011, LOC129996012, LOC129996013, LOC129996014, LOC129996015, LOC129996016, LOC129996017, LOC129996018, LOC129996019, LOC129996020, LOC129996021, LOC129996022, LOC129996023, LOC129996024, LOC129996025, LOC129996026, LOC129996027, LOC129996028, LOC129996029, LOC129996030, LOC129996031, LOC129996032, LOC129996033, LOC129996034, LOC129996035, LOC129996036, LOC129996037, LOC129996038, LOC129996039, LOC129996040, LOC129996041, LOC129996042, LOC129996043, LOC129996044, LOC129996045, LOC129996046, LOC129996047, LOC129996048, LOC129996049, LOC129996050, LOC129996051, LOC129996052, LOC129996053, LOC129996054, LOC129996055, LOC129996056, LOC129996057, LOC129996058, LOC129996059, LOC129996060, LOC129996061, LOC129996062, LOC129996063, LOC129996064, LOC129996065, LOC129996066, LOC129996067, LOC129996068, LOC129996069, LOC129996070, LOC129996071, LOC129996072, LOC129996073, LOC129996074, LOC129996075, LOC129996076, LOC129996077, LOC129996078, LOC129996079, LOC129996080, LOC129996081, LOC129996082, LOC129996083, LOC129996084, LOC129996085, LOC129996086, LOC129996087, LOC129996088, LOC129996089, LOC129996090, LOC129996091, LOC129996092, LOC129996093, LOC129996094, LOC129996095, LOC129996096, LOC129996097, LOC129996098, LOC129996099, LOC129996100, LOC129996101, LOC129996102, LOC129996103, LOC129996104, LOC129996105, LOC129996106, LOC129996107, LOC129996108, LOC129996109, LOC129996110, LOC129996111, LOC129996112, LOC129996113, LOC129996114, LOC129996115, LOC129996116, LOC129996117, LOC129996118, LOC129996119, LOC129996120, LOC129996121, LOC129996122, LOC129996123, LOC129996124, LOC129996125, LOC129996126, LOC129996127, LOC129996128, LOC129996129, LOC129996130, LOC129996131, LOC129996132, LOC129996133, LOC129996134, LOC129996135, LOC129996136, LOC129996137, LOC129996138, LOC129996139, LOC129996140, LOC129996141, LOC129996142, LOC129996143, LOC129996144, LOC129996145, LOC129996146, LOC129996147, LOC129996148, LOC129996149, LOC129996150, LOC129996151, LOC129996152, LOC129996153, LOC129996154, LOC129996155, LOC129996156, LOC129996157, LOC129996158, LOC129996159, LOC129996160, LOC129996161, LOC129996162, LOC129996163, LOC129996164, LOC129996165, LOC129996166, LOC129996167, LOC129996168, LOC129996169, LOC129996170, LOC129996171, LOC129996172, LOC129996173, LOC129996174, LOC132089447, LOC132089483, LOC132089484, LOC132089485, LOC132089486, LOC132089487, LOC132089488, LOC132089489, LOC132089490, LOC132089491, LOC132089492, LOC132089493, LOC132089494, LOC132089495, LOC132089496, LOC132089497, LOC132089498, LOC132089499, LOC132089500, LOC132090749, LOC132090750, LOC132090751, LOC132090752, LOC132090753, LOC285819, LOC554223, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAK, MIR548A1, MAS1L, MBOAT1, MCUR1, MIR3143, MIR3691, MIR4639, 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, LOC116183051, LOC116183052, LOC116183053, LOC116183054, LOC116183055, LOC116183056, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121113499, LOC121132669, LOC121132670, LOC121132671, LOC121132672, LOC121132673, LOC121132674, LOC121132675, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, LOC121740643, LOC121740644, LOC121740645, LOC121740646, LOC121740647, LOC123575652, LOC123575653, LOC123575654, LOC123575655, LOC123575656, LOC123575657, LOC123575658, LOC123575659, LOC123575660, LOC123575661, LOC123575662, LOC123575663, LOC123575664, LOC123575665, LOC123575666, LOC123575667, LOC123575668, LOC123575669, LOC123575670, LOC123575671, LOC123575672, LOC123575673, LOC123575674, LOC123575675, LOC123575676, LOC123575677, LOC123575678, LOC123575679, LOC123575680, LOC123620059, LOC123620060, LOC123620061, LOC123620062, LOC123620063, LOC123620064, LOC123620065, LOC123620066, LOC123620067, LOC123620068, LOC123620069, LOC123620070, LOC123620071, LOC123620072, LOC123620073, LOC123620074, LOC123620075, LOC123620076, LOC123620077, LOC123620078, LOC126088086, LOC126088087, LOC126088088, LOC126859557, LOC126859558, LOC126859559, LOC126859560, LOC126859561, LOC126859562, LOC126859563, LOC126859564, LOC126859565, LOC126859566, LOC126859567, LOC126859568, LOC126859569, LOC126859570, LOC126859571, LOC126859572, LOC126859573, LOC126859574, LOC126859575, LOC126859576, LOC126859577, LOC126859578, LOC126859579, LOC126859580, LOC126859581, LOC126859582, LOC126859583, LOC126859584, LOC126859585, LOC126859586, LOC126859587, LOC126859588, LOC126859589, LOC126859590, LOC126859591, LOC126859592, LOC126859593, LOC126859594, LOC126859595, LOC126859596, LOC126859597, LOC126859598, LOC126859599, LOC126859600, LOC126859601, LOC126859602, LOC126859603, LOC126859604, LOC126859605, LOC126859606, LOC126859607, LOC126859608, LOC126859609, LOC126859610, LOC126859611, LOC126859612, LOC126859613, LOC126859614, LOC126859615, LOC126859616, LOC126859617, LOC126859618, LOC126859619, LOC126859620, LOC126859621, LOC126859622, LOC126859623, LOC126859624, LOC126859625, LOC126859626, LOC126859627, LOC126859628, LOC126859629, LOC126859630, LOC126859631, LOC126859632, LOC126859633, LOC126859634, LOC126859635, LOC126859636, LOC126859637, LOC126859638, LOC126859639, LOC126859640, LOC126859641, LOC126859642, LOC128772275, LOC126859643, LOC126859644, LOC127903862, LOC128462396, LOC128462417, LOC128772276, LOC128772277, LOC128781586, LOC129389430, LOC129389431, LOC129389432, LOC129389433, LOC129389434, LOC129389435, LOC129389436, LOC129389437, LOC129389438, LOC129389439, LOC129389440, LOC129389441, LOC129389442, LOC129389443, LOC129389444, LOC129389445, LOC129389446, LOC129389447, LOC129389448, LOC129389449, LOC129389450, LOC129389451, LOC129389452, LOC129389453, LOC129389454, LOC129389455, LOC129389456, LOC129389457, LOC129389458, LOC129389459, LOC129389460, LOC129389461, LOC129389462, LOC129389463, LOC129389464, LOC129389465, LOC129389466, LOC129389467, LOC129389468, LOC129389469, LOC129389470, LOC129389471, LOC129389472, LOC129389473, LOC129389474, LOC129389475, LOC129389476, LOC129389477, LOC129389478, LOC129389479, LOC129389480, LOC129389481, LOC129389482, LOC129389483, LOC129389484, LOC129389485, LOC129389486, LOC129389487, LOC129995637, LOC129995638, LOC129995639, LOC129995640, LOC129995641, LOC129995642, LOC129995643, LOC129995644, LOC129995645, LOC129995646, LOC129995647, LOC129995648, LOC129995649, LOC129995650, LOC129995651, LOC129995652, LOC129995653, LOC129995654, LOC129995655, LOC129995656, LOC129995657, LOC129995658, LOC129995659, LOC129995660, LOC129995661, LOC129995662, LOC129995663, LOC129995664, LOC129995665, LOC129995666, LOC129995667, LOC129995668, LOC129995669, LOC129995670, LOC129995671, LOC129995672, LOC129995673, LOC129995674, LOC129995675, LOC129995676, LOC129995677, LOC129995678, LOC129995679, LOC129995680, LOC129995681, LOC129995682, LOC129995683, LOC129995684, LOC129995685, LOC129995686, LOC129995687, LOC129995688, LOC129995689, LOC129995690, LOC129995691, LOC129995692, LOC129995693, LOC129995694, LOC129995695, LOC129995696, LOC129995697, LOC129995698, LOC129995699, LOC129995700, LOC129995701, LOC129995702, LOC129995703, LOC129995704, LOC129995705, LOC129995706, LOC129995707, LOC129995708, LOC129995709, LOC129995710, LOC129995711, LOC129995712, LOC129995713, LOC129995714, LOC129995715, LOC129995716, LOC129995717, LOC129995718, LOC129995719, LOC129995720, LOC129995721, LOC129995722, LOC129995723, LOC129995724, LOC129995725, LOC129995726, LOC129995727, LOC129995728, LOC129995729, LOC129995730, LOC129995731, LOC129995732, LOC129995733, LOC129995734, LOC129995735, LOC129995736, LOC129995737, LOC129995738, LOC129995739, LOC129995740, LOC129995741, LOC129995742, LOC129995743, LOC129995744, LOC129995745, LOC129995746, LOC129995747, LOC129995748, LOC129995749, LOC129995750, LOC129995751, LOC129995752, LOC129995753, LOC129995754, LOC129995755, LOC129995756, LOC129995757, LOC129995758, LOC129995759, LOC129995760, LOC129995761, LOC129995762, LOC129995763, LOC129995764, LOC129995765, LOC129995766, LOC129995767, LOC129995768, LOC129995769, LOC129995770, LOC129995771, LOC129995772, LOC129995773, LOC129995774, LOC129995775, LOC129995776, LOC129995777, LOC129995778, LOC129995779, LOC129995780, LOC129995781, LOC129995782, LOC129995783, LOC129995784, LOC129995785, LOC129995786, LOC129995787, LOC129995788, LOC129995789, LOC129995790, LOC129995791, LOC129995792, LOC129995793, LOC129995794, LOC129995795, LOC129995796, LOC129995797, LOC129995798, LOC129995799, LOC129995800, LOC129995801, LOC129995802, LOC129995803, LOC129995804, LOC129995805, LOC129995806, LOC129995807, LOC129995808, LOC129995809, LOC129995810, LOC129995811, LOC129995812, LOC129995813, LOC129995814, LOC129995815, LOC129995816, LOC129995817, LOC129995818, LOC129995819, LOC129995820, LOC129995821, LOC129995822, LOC129995823, LOC129995824, LOC129995825, LOC129995826, LOC129995827, LOC129995828, LOC129995829, LOC129995830, LOC129995831, LOC129995832, LOC129995833, LOC129995834, LOC129995835, LOC129995836, LOC129995837, LOC129995838, LOC129995839, LOC129995840, LOC129995841, LOC129995842, LOC129995843, LOC129995844, LOC129995845, LOC129995846, LOC129995847, LOC129995848, LOC129995849, LOC129995850, LOC129995851, LOC129995852, LOC129995853, LOC129995854, LOC129995855, LOC129995856, LOC129995857, LOC129995858, LOC129995859, LOC129995860, LOC129995861, LOC129995862, LOC129995863, LOC129995864, LOC129995865, LOC129995866, LOC129995867, LOC129995868, LOC129995869, LOC129995870, LOC129995871, LOC129995872, LOC129995873, LOC129995874, LOC129995875, LOC129995876, LOC129995877, LOC129995878, LOC129995879, LOC129995880, LOC129995881, LOC129995882, LOC129995883, LOC129995884, LOC129995885, LOC129995886, LOC129995887, LOC129995888, LOC129995889, LOC129995890, LOC129995891, LOC129995892, LOC129995893, LOC129995894, LOC129995895, LOC129995896, LOC129995897, LOC129995898, LOC129995899, LOC129995900, LOC129995901, LOC129995902, LOC129995903, LOC129995904, LOC129995905, LOC129995906, LOC129995907, LOC129995908, LOC129995909, LOC129995910, LOC129995911, LOC129995912, ARMH2, ABCF1, ABT1, ACOT13, ADTRP, ALDH5A1, ATAT1, ATXN1, ATXN1-AS1, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, C6orf136, C6orf201, C6orf52, C6orf62, CAGE1, CAP2, 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, GNL1, GPLD1, GPX5, GPX6, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC6-AS1, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HCG11, HCG14, HCG15, HCG17, HCG18, HCG4, HCG4B, HCG9, ID4, HCP5B, HDGFL1, HFE, HFE-AS1, HIVEP1, HLA-A, HLA-E, HLA-F, HLA-F-AS1, HLA-G, HMGN4, HULC, JARID2, JARID2-AS1, JARID2-DT, KAAG1, KDM1B, KIAA0319, KIF13A, KU-MEL-3, LARRPM, LINC00240, LINC00518, LINC00533, LINC00581, LINC01012, LINC01015, LINC01108, LINC01556, LOC101927950, LOC101928004, LINC01623, LINC02522, LINC02530, LINC02533, LINC02543, LOC100507336, LOC101927888, LINC02569, LINC02828, LINC02829, LINC02980, LINC03003, LINC03005, LNC-LBCS, LOC100130357, LOC100131289, LOC100422781, LOC100506207, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC102724096, LOC102724749, LOC102724765, LOC105374901, LOC105374928, LOC105374943, LOC105374960, LOC105374988, LOC105374989, LOC106799837, LOC106799842, LOC107403164, LOC108281120, LOC108663993, LOC110120976, LOC110121016, LOC110121052, LOC110121065, LOC110121068, LOC110121074, LOC110121091, LOC110121134, LOC110121246, LOC110121247, LOC110121274, LOC111365167, LOC111429610, LOC111429615, LOC111556163, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113146424, LOC113146425, LOC113174970, LOC113174974, LOC113174975, LOC113174981, LOC113174982, LOC113174983, LOC113174984, LOC113174986, LOC113174987, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158539, LOC116158540, LOC116158541, LOC116158542, LOC116158543, LOC116158544, LOC116158545, LOC116158546, LOC116158547, LOC116158548, LOC116158549, LOC116158550, LOC116158551, LOC116158552, LOC116183041, LOC116183042, LOC116183043, LOC116183044, LOC116183045, LOC116183046, LOC116183047, LOC116183048, LOC116183049, LOC116183050, 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, ZBED9-AS1, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF184, ZNF311, ZNF322, ZNF391, ZSCAN12, ZSCAN16, ZSCAN16-AS1, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9
See casesPathogenic
(Jun 11, 2012)
no assertion criteria provided
3.
GRCh37:
Chr6:22519683-25226559
GRCh38:
Chr6:22519454-25226331
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
4.
GRCh37:
Chr6:23252750-25967505
GRCh38:
Chr6:23252522-25967277
See casesUncertain significance
(Aug 2, 2012)
no assertion criteria provided
5.
GRCh37:
Chr6:24686280-24833941
GRCh38:
Chr6:24686052-24833713
ACOT13, ARMH2, C6orf62, GMNN, LINC02828, LOC129995985, LOC129995986, RIPOR2See casesUncertain significance
(Apr 30, 2011)
no assertion criteria provided
6.
GRCh37:
Chr6:24806275
GRCh38:
Chr6:24806047
RIPOR2not providedLikely benign
(Jan 16, 2019)
criteria provided, single submitter
7.
GRCh37:
Chr6:24806338
GRCh38:
Chr6:24806110
RIPOR2not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr6:24806594
GRCh38:
Chr6:24806366
RIPOR2Autosomal recessive nonsyndromic hearing loss 104, not specified, not provided
Benign
(Aug 10, 2021)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr6:24806612
GRCh38:
Chr6:24806384
RIPOR2T1066A, T1016A, T1045Anot provided, not specifiedConflicting interpretations of pathogenicity
(Aug 31, 2022)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr6:24806615
GRCh38:
Chr6:24806387
RIPOR2A1044T, A1015T, A1065Tnot providedUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr6:24806651
GRCh38:
Chr6:24806423
RIPOR2C1003R, C1032R, C1053Rnot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr6:24806674
GRCh38:
Chr6:24806446
RIPOR2Q1045R, Q995R, Q1024Rnot providedUncertain significance
(Aug 17, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr6:24806689
GRCh38:
Chr6:24806461
RIPOR2R1019Q, R1040Q, R990Qnot providedUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr6:24806695
GRCh38:
Chr6:24806467
RIPOR2D988G, D1017G, D1038GInborn genetic diseasesUncertain significance
(Apr 13, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr6:24806707
GRCh38:
Chr6:24806479
RIPOR2not providedLikely benign
(Feb 1, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr6:24806713
GRCh38:
Chr6:24806485
RIPOR2not provided, not specifiedBenign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr6:24806739-24806740
GRCh38:
Chr6:24806511-24806512
RIPOR2not providedBenign
(Jun 24, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr6:24806752
GRCh38:
Chr6:24806524
RIPOR2not providedBenign
(Jun 24, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr6:24806777
GRCh38:
Chr6:24806549
RIPOR2not providedBenign
(Jun 24, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr6:24806923
GRCh38:
Chr6:24806695
RIPOR2not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr6:24809771
GRCh38:
Chr6:24809543
RIPOR2not providedBenign
(Mar 29, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr6:24809853
GRCh38:
Chr6:24809625
RIPOR2not providedBenign
(Jun 22, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr6:24809874
GRCh38:
Chr6:24809646
RIPOR2not providedBenign
(Jun 24, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr6:24809881
GRCh38:
Chr6:24809653
RIPOR2not providedBenign
(Jun 22, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr6:24809924-24809926
GRCh38:
Chr6:24809696-24809698
RIPOR2not providedLikely benign
(Jul 6, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr6:24809936
GRCh38:
Chr6:24809708
RIPOR2not specified, Autosomal recessive nonsyndromic hearing loss 104, not provided
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr6:24809997
GRCh38:
Chr6:24809769
RIPOR2not providedLikely benign
(Oct 27, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:24810082
GRCh38:
Chr6:24809854
RIPOR2not providedBenign
(Feb 3, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr6:24810301
GRCh38:
Chr6:24810073
RIPOR2not providedBenign
(Mar 29, 2019)
criteria provided, single submitter
30.
GRCh37:
Chr6:24810302
GRCh38:
Chr6:24810074
RIPOR2not providedBenign
(Mar 29, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr6:24818759
GRCh38:
Chr6:24818531
RIPOR2not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr6:24818761
GRCh38:
Chr6:24818533
RIPOR2not provided, not specifiedBenign/Likely benign
(Aug 6, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr6:24818785
GRCh38:
Chr6:24818557
RIPOR2not specified, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr6:24818827
GRCh38:
Chr6:24818599
RIPOR2not provided, not specifiedBenign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr6:24819019
GRCh38:
Chr6:24818791
RIPOR2not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr6:24819024
GRCh38:
Chr6:24818796
RIPOR2not providedLikely benign
(Dec 22, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr6:24825435
GRCh38:
Chr6:24825207
RIPOR2not providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:24825482
GRCh38:
Chr6:24825254
RIPOR2A918V, A947V, A968Vnot providedLikely benign
(Feb 22, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr6:24825494
GRCh38:
Chr6:24825266
RIPOR2Y914C, Y943C, Y964Cnot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr6:24825500
GRCh38:
Chr6:24825272
RIPOR2T912M, T941M, T962Mnot providedUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr6:24825511
GRCh38:
Chr6:24825283
RIPOR2not providedBenign
(Oct 18, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr6:24825511
GRCh38:
Chr6:24825283
RIPOR2not specified, not provided, Autosomal recessive nonsyndromic hearing loss 104
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr6:24825520
GRCh38:
Chr6:24825292
RIPOR2not providedBenign/Likely benign
(Jul 28, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr6:24825529
GRCh38:
Chr6:24825301
RIPOR2not providedLikely benign
(Jun 1, 2023)
criteria provided, single submitter
45.
GRCh37:
Chr6:24825577
GRCh38:
Chr6:24825349
RIPOR2not providedLikely benign
(Mar 4, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr6:24825601
GRCh38:
Chr6:24825373
RIPOR2M878I, M928I, M907IInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
47.
GRCh37:
Chr6:24825603
GRCh38:
Chr6:24825375
RIPOR2M907V, M928V, M878Vnot providedUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr6:24825610
GRCh38:
Chr6:24825382
RIPOR2not providedLikely benign
(Feb 17, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr6:24825625
GRCh38:
Chr6:24825397
RIPOR2R920S, R870S, R899Snot providedUncertain significance
(Aug 17, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr6:24825637
GRCh38:
Chr6:24825409
RIPOR2not providedLikely benign
(Oct 30, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr6:24828121
GRCh38:
Chr6:24827893
RIPOR2not providedBenign
(Dec 17, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr6:24828318
GRCh38:
Chr6:24828090
RIPOR2not providedBenign
(Jun 22, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr6:24828333
GRCh38:
Chr6:24828105
RIPOR2not providedLikely benign
(Sep 3, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr6:24828379
GRCh38:
Chr6:24828151
RIPOR2Q855R, Q884R, Q905Rnot providedUncertain significance
(Nov 17, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr6:24828407
GRCh38:
Chr6:24828179
RIPOR2V846I, V875I, V896Inot providedUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr6:24828410
GRCh38:
Chr6:24828182
RIPOR2G845S, G874S, G895Snot providedConflicting interpretations of pathogenicity
(Sep 18, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr6:24828438
GRCh38:
Chr6:24828210
RIPOR2not providedLikely benign
(Mar 20, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr6:24828447
GRCh38:
Chr6:24828219
RIPOR2not providedLikely benign
(Apr 26, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr6:24828449
GRCh38:
Chr6:24828221
RIPOR2V882I, V832I, V861Inot specified, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr6:24828450
GRCh38:
Chr6:24828222
RIPOR2not providedLikely benign
(Jun 5, 2020)
criteria provided, single submitter
61.
GRCh37:
Chr6:24828451
GRCh38:
Chr6:24828223
RIPOR2V860A, V831A, V881Anot specifiedUncertain significance
(Jun 28, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr6:24828456
GRCh38:
Chr6:24828228
RIPOR2not providedLikely benign
(May 1, 2023)
criteria provided, single submitter
63.
GRCh37:
Chr6:24828457
GRCh38:
Chr6:24828229
RIPOR2S829L, S858L, S879Lnot provided, Inborn genetic diseasesUncertain significance
(Feb 15, 2023)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr6:24828490
GRCh38:
Chr6:24828262
RIPOR2R868Q, R847Q, R818Qnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 104
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr6:24828491
GRCh38:
Chr6:24828263
RIPOR2R868W, R818W, R847Wnot provided, Inborn genetic diseasesUncertain significance
(Jun 22, 2023)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr6:24828517
GRCh38:
Chr6:24828289
RIPOR2R859Q, R838Q, R809QInborn genetic diseasesUncertain significance
(Feb 22, 2023)
criteria provided, single submitter
67.
GRCh37:
Chr6:24828529
GRCh38:
Chr6:24828301
RIPOR2not specified, not providedBenign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr6:24828530
GRCh38:
Chr6:24828302
RIPOR2not providedBenign/Likely benign
(Feb 19, 2020)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr6:24828533
GRCh38:
Chr6:24828305
RIPOR2not providedLikely benign
(Jun 20, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr6:24828560
GRCh38:
Chr6:24828332
RIPOR2not providedBenign
(Jun 24, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr6:24828566-24828567
GRCh38:
Chr6:24828338-24828339
RIPOR2not providedBenign
(Aug 11, 2019)
criteria provided, single submitter
72.
GRCh37:
Chr6:24828567-24828570
GRCh38:
Chr6:24828339-24828342
RIPOR2not providedBenign
(Jun 29, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr6:24830680
GRCh38:
Chr6:24830452
RIPOR2not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr6:24830681
GRCh38:
Chr6:24830453
RIPOR2not providedLikely benign
(Sep 2, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr6:24830773
GRCh38:
Chr6:24830545
RIPOR2T795S, T824S, T845Snot providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:24830794
GRCh38:
Chr6:24830566
RIPOR2not providedLikely benign
(Jun 24, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr6:24830813
GRCh38:
Chr6:24830585
RIPOR2not specified, not providedLikely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr6:24830832
GRCh38:
Chr6:24830604
RIPOR2G825V, G775V, G804Vnot providedUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr6:24830849
GRCh38:
Chr6:24830621
RIPOR2K769N, K798N, K819Nnot providedUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr6:24830934-24830938
GRCh38:
Chr6:24830706-24830710
RIPOR2not providedLikely benign
(Sep 2, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr6:24830976
GRCh38:
Chr6:24830748
RIPOR2not providedBenign
(Jun 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr6:24830991
GRCh38:
Chr6:24830763
RIPOR2not providedBenign
(Jun 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr6:24831022
GRCh38:
Chr6:24830794
RIPOR2not providedBenign
(Nov 29, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr6:24832250
GRCh38:
Chr6:24832022
RIPOR2not providedBenign
(Dec 14, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr6:24832262
GRCh38:
Chr6:24832034
RIPOR2not providedBenign
(Dec 14, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr6:24832468
GRCh38:
Chr6:24832240
RIPOR2not providedLikely benign
(Mar 10, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr6:24832528
GRCh38:
Chr6:24832300
RIPOR2A738V, A767V, A788Vnot providedUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:24832544
GRCh38:
Chr6:24832316
RIPOR2M733V, M762V, M783Vnot specifiedLikely benign
(Aug 2, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr6:24832602
GRCh38:
Chr6:24832374
RIPOR2S713R, S742R, S763Rnot providedUncertain significance
(Oct 28, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr6:24832713
GRCh38:
Chr6:24832485
RIPOR2not providedBenign
(Jul 1, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr6:24832797
GRCh38:
Chr6:24832569
RIPOR2not providedBenign
(Dec 14, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr6:24832884
GRCh38:
Chr6:24832656
RIPOR2not providedBenign
(Apr 10, 2019)
criteria provided, single submitter
93.
GRCh37:
Chr6:24835700
GRCh38:
Chr6:24835472
RIPOR2not providedBenign
(Nov 29, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr6:24835885
GRCh38:
Chr6:24835657
RIPOR2not providedBenign
(Jun 5, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr6:24835935
GRCh38:
Chr6:24835707
RIPOR2V735A, V706A, V756Anot providedUncertain significance
(Apr 4, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr6:24835937
GRCh38:
Chr6:24835709
RIPOR2not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr6:24835948
GRCh38:
Chr6:24835720
RIPOR2C702R, C731R, C752Rnot providedUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr6:24835957
GRCh38:
Chr6:24835729
RIPOR2L699F, L749F, L728FInborn genetic diseasesUncertain significance
(Mar 14, 2023)
criteria provided, single submitter
99.
GRCh37:
Chr6:24835963
GRCh38:
Chr6:24835735
RIPOR2R726G, R697G, R747GInborn genetic diseasesUncertain significance
(Mar 20, 2023)
criteria provided, single submitter
100.
GRCh37:
Chr6:24835966
GRCh38:
Chr6:24835738
RIPOR2V746I, V725I, V696Inot provided, RIPOR2-related conditionUncertain significance
(Aug 10, 2023)
criteria provided, multiple submitters, no conflicts
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