U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 658

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, LOC129996530, LOC129996531, LOC129996532, LOC129996533, LOC129996534, LOC129996535, LOC129996536, LOC129996537, LOC129996538, LOC129996539, LOC129996540, LOC129996541, LOC129996542, LOC129996543, LOC129996544, LOC129996545, LOC129996546, LOC129996547, LOC129996548, LOC129996549, LOC129996550, LOC129996551, LOC129996552, LOC129996553, LOC129996554, LOC129996555, LOC129996556, LOC129996557, LOC129996558, LOC129996559, LOC129996560, LOC129996561, LOC129996562, LOC129996563, LOC129996564, LOC129996565, LOC129996566, LOC129996567, LOC129996568, LOC129996569, LOC129996570, LOC129996571, LOC129996572, LOC129996573, LOC129996574, LOC129996575, LOC129996576, LOC129996577, LOC129996578, LOC129996579, LOC129996580, LOC129996581, LOC129996582, LOC129996583, LOC129996584, LOC129996585, LOC129996586, LOC129996587, LOC129996588, LOC129996589, LOC129996590, LOC129996591, LOC129996592, LOC129996593, LOC129996594, LOC129996595, LOC132089380, LOC132089381, LOC132089382, LOC132089383, LOC132089384, LOC132089385, LOC132089386, LOC132089387, LOC132089388, LOC132089389, LOC132089390, LOC132089391, LOC132089392, LOC132089393, LOC132089394, LOC132089395, LOC132089396, LOC132089397, LOC132089447, LOC132089483, LOC132089484, LOC132089485, LOC132089486, LOC132089487, LOC132089488, LOC132089489, LOC132089490, LOC132089491, LOC132089492, LOC132089493, LOC132089494, LOC132089495, LOC132089496, LOC132089497, LOC132089498, LOC132089499, LOC132089500, LOC132090749, LOC132090750, LOC132090751, LOC132090752, LOC132090753, LOC132090754, LOC285819, LOC285847, LOC401261, LOC554223, LOC643327, LRFN2, LRRC73, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY6G6F-LY6G6D, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAD2L1BP, MAK, MAPK13, MAPK14, MAS1L, MBOAT1, MCCD1, MCUR1, MDC1, MIR548A1, MIR548A1HG, MDC1-AS1, MDFI, MDGA1, MEA1, MED20, MICA, MICA-AS1, MICB, MIR5004, MICB-DT, MIR10398, MIR1236, MIR1275, MIR219A1, MIR3135B, MIR3143, MIR3691, MIR3925, MIR3934, MIR4462, MIR4639, MIR4640, MIR4641, MIR4642, MIR4645, MIR4646, MIR4647, MIR5683, MIR5689, MIR5689HG, MIR5690, MIR586, MIR6720, MIR6721, MIR6780B, MIR6832, MIR6833, MIR6834, MIR6835, MIR6873, MIR6891, MIR7111, MIR7159, MIR7853, MIR877, MIR9983, MLN, MOCS1, MOG, MPIG6B, MRPL14, MRPL2, MRPS10, MRPS18A, MRPS18B, MRS2, MSH5, MSH5-SAPCD1, MTCH1, MUC21, NBAT1, NCR2, MUC22, MUCL3, MYLIP, MYLK4, MYMX, NCR3, NEDD9, NELFE, 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, 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, LOC129996175, LOC129996176, LOC129996177, LOC129996178, LOC129996179, LOC129996180, LOC129996181, LOC129996182, LOC129996183, LOC129996184, LOC129996185, LOC129996186, LOC129996187, LOC129996188, LOC129996189, LOC129996190, LOC129996191, LOC129996192, LOC129996193, LOC129996194, LOC129996195, LOC129996196, LOC129996197, LOC129996198, LOC129996199, LOC129996200, LOC129996201, LOC129996202, LOC129996203, LOC129996204, LOC129996205, LOC129996206, LOC129996207, LOC129996208, LOC129996209, LOC129996210, LOC129996211, LOC129996212, LOC129996213, LOC129996214, LOC129996215, LOC129996216, LOC129996217, LOC129996218, LOC129996219, LOC129996220, LOC129996221, LOC129996222, LOC129996223, LOC129996224, LOC129996225, LOC129996226, LOC123620092, LOC123620093, LOC123620094, LOC123620095, LOC123620096, LOC123620097, LOC123620098, LOC123620099, LOC123620100, LOC123620101, LOC123620102, LOC123620103, LOC123620104, LOC123620105, LOC123620106, LOC123620107, LOC123620108, LOC123620109, LOC123620110, LOC123620111, LOC123620112, LOC123620113, LOC123620114, LOC123620115, LOC123620116, LOC123620117, LOC123620118, LOC123620119, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC123744813, LOC123744814, LOC126088086, LOC126088087, LOC126088088, LOC126859546, LOC126859547, LOC126859548, LOC126859549, LOC126859550, LOC126859551, LOC126859552, LOC126859553, LOC126859554, LOC126859555, LOC126859556, LOC126859557, LOC126859558, LOC126859559, LOC126859560, LOC126859561, LOC126859562, LOC126859563, LOC126859564, LOC126859565, LOC126859566, LOC126859567, LOC126859568, LOC126859569, LOC126859570, LOC126859571, LOC126859572, LOC126859573, LOC126859574, LOC126859575, LOC126859576, LOC126859577, LOC126859578, LOC126859579, LOC126859580, LOC126859581, LOC126859582, LOC126859583, LOC126859584, LOC126859585, LOC126859586, LOC126859587, LOC126859588, LOC126859589, LOC126859590, LOC126859591, LOC126859592, LOC126859593, LOC126859594, LOC126859595, LOC126859596, LOC126859597, LOC126859598, LOC126859599, LOC126859600, LOC126859601, LOC126859602, LOC126859603, LOC126859604, LOC126859605, LOC126859606, LOC126859607, LOC126859608, LOC126859609, LOC126859610, LOC126859611, LOC126859612, LOC126859613, LOC126859614, LOC126859615, LOC126859616, LOC126859617, LOC126859618, LOC126859619, LOC126859620, LOC126859621, LOC126859622, LOC126859623, LOC126859624, LOC126859625, LOC126859626, LOC126859627, LOC126859628, LOC126859629, LOC126859630, LOC126859631, LOC126859632, LOC126859633, LOC126859634, LOC126859635, LOC126859636, LOC126859637, LOC126859638, LOC126859639, LOC126859640, LOC126859641, LOC126859642, LOC126859660, LOC126859643, LOC126859644, LOC126859645, LOC126859646, LOC126859647, LOC126859648, LOC126859649, LOC126859650, LOC126859651, LOC126859652, LOC126859653, LOC126859654, LOC126859655, LOC126859656, LOC126859657, LOC126859658, LOC126859659, LOC126859661, LOC126859662, LOC126859663, LOC126859664, LOC126859665, LOC126859666, LOC126859667, LOC126859668, LOC126859669, LOC126859670, LOC126859671, LOC126859672, LOC126859673, LOC126859674, LOC126859675, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC126859681, LOC126859682, LOC127903862, LOC128462396, LOC128462417, LOC128635605, LOC128772275, LOC128772276, LOC128772277, LOC128772278, LOC128772279, LOC128772280, LOC128772281, LOC128772282, LOC128772283, LOC128772284, LOC128772285, LOC128772286, LOC128772287, LOC128772288, LOC128772289, LOC128772290, LOC128772291, LOC128772292, LOC128772293, LOC128772294, LOC128772295, LOC128781586, LOC128781587, LOC128781588, 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, 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, LOC129389497, LOC129389498, LOC129389487, LOC129389488, LOC129389489, LOC129389496, LOC129389490, LOC129389491, LOC129389492, LOC129389493, LOC129389494, LOC129389495, LOC129389499, LOC129389500, LOC129389501, LOC129389502, LOC129389503, LOC129389504, LOC129389505, LOC129389506, LOC129389507, LOC129389508, LOC129389509, LOC129389510, LOC129389511, LOC129389512, LOC129389513, LOC129389514, LOC129389515, LOC129389516, LOC129389517, LOC129389518, LOC129389519, LOC129389520, LOC129389521, LOC129389522, LOC129389523, LOC129389524, LOC129389525, LOC129389526, LOC129389527, LOC129389528, LOC129995519, LOC129995520, LOC129995521, LOC129995522, LOC129995523, LOC129995524, LOC129995525, LOC129995526, LOC129995527, LOC129995528, LOC129995529, LOC129995530, LOC129995531, LOC129995532, LOC129995533, LOC129995534, LOC129995535, LOC129995536, LOC129995537, LOC129995538, LOC129995539, LOC129995540, LOC129995541, LOC129995542, LOC129995543, LOC129995544, LOC129995545, LOC129995546, LOC129995547, LOC129995548, LOC129995549, LOC129995550, LOC129995551, LOC129995552, LOC129995553, LOC129995554, LOC129995555, LOC129995556, LOC129995557, LOC129995558, LOC129995559, LOC129995560, LOC129995561, LOC129995562, LOC129995563, LOC129995564, LOC129995565, LOC129995566, LOC129995567, LOC129995568, LOC129995569, LOC129995570, LOC129995571, LOC129995572, LOC129995573, LOC129995574, LOC129995575, LOC129995576, LOC129995577, LOC129995578, LOC129995579, LOC129995580, LOC129995581, LOC129995582, LOC129995583, LOC129995584, LOC129995585, LOC129995586, LOC129995587, LOC129995588, LOC129995589, LOC129995590, 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:
Chr6:37745145-45621580
GRCh38:
Chr6:37777369-45653843
AARS2, ABCC10, APOBEC2, BICRAL, BTBD9, BTBD9-AS1, BYSL, C6orf132, C6orf226, CAPN11, CCND3, CDC5L, CIMIP3, CNPY3, CNPY3-GNMT, CRIP3, CUL7, CUL9, DAAM2, DAAM2-AS1, DLK2, DNAH8, DNAH8-AS1, DNAH8-DT, DNPH1, FOXP4, FOXP4-AS1, FRS3, GLO1, GLP1R, GNMT, GTPBP2, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, HSP90AB1, KCNK16, KCNK17, KCNK5, KIF6, KLC4, KLHDC3, LINC00951, LINC01276, LINC01512, LINC02537, LINC02976, LINC03040, LOC101929535, LOC101929555, LOC105375050, LOC105375075, LOC105379699, LOC107986596, LOC109611589, LOC109611593, LOC110120645, LOC110120988, LOC110121080, LOC111721708, LOC111828527, LOC111828528, LOC113175000, LOC113175001, LOC113175002, LOC113175003, LOC113175004, LOC113175005, LOC114827825, LOC116183061, LOC116183062, LOC116183063, LOC120285838, LOC121132683, LOC121132684, LOC121132685, LOC121132686, LOC123620108, LOC123620109, LOC123620110, LOC123620111, LOC123620112, LOC123620113, LOC123620114, LOC123620115, LOC123620116, LOC123620117, LOC123620118, LOC123620119, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC123744813, LOC126859667, LOC126859668, LOC126859669, LOC126859670, LOC126859671, LOC126859672, LOC126859673, LOC126859674, LOC126859675, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC129389510, LOC129389511, LOC129389512, LOC129389513, LOC129389514, LOC129389515, LOC129389516, LOC129389517, LOC129389518, LOC129389519, LOC129389520, LOC129389521, LOC129389522, LOC129389523, LOC129389524, LOC129389525, LOC129389526, LOC129389527, LOC129389528, 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, LOC129996530, LOC129996531, LOC129996532, LOC129996533, LOC129996534, LOC129996535, LOC129996536, LOC129996537, LOC129996538, LOC129996539, LOC129996540, LOC129996541, LOC129996542, LOC129996543, LOC129996544, LOC129996545, LOC129996546, LOC129996547, LOC129996548, LOC129996549, LOC129996550, LOC129996551, LOC129996552, LOC129996553, LOC129996554, LOC129996555, LOC129996556, LOC129996557, LOC129996558, LOC129996559, LOC129996560, LOC129996561, LOC129996562, LOC129996563, LOC129996564, LOC129996565, LOC129996566, LOC129996567, LOC129996568, LOC129996569, LOC129996570, LOC129996571, LOC129996572, LOC129996573, LOC129996574, LOC129996575, LOC129996576, LOC129996577, LOC129996578, LOC132089384, LOC132089385, LOC132089386, LOC132089387, LOC132089388, LOC132089389, LOC132089390, LOC132089391, LOC132089392, LOC132089393, LOC132089394, LOC132089395, LOC132089396, LOC132089397, LOC132090754, LOC401261, LRFN2, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MIR10398, MIR4641, MIR4642, MIR4647, MIR586, MIR6780B, MIR9983, MOCS1, MRPL14, MRPL2, MRPS10, MRPS18A, MYMX, NCR2, NFKBIE, NFYA, OARD1, PEX6, PGC, POLH, POLR1C, PPP2R5D, PRICKLE4, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, RSPH9, RUNX2, RUNX2-AS1, SAYSD1, SCIRT, SLC22A7, SLC29A1, SLC35B2, SPATS1, SRF, SUPT3H, TAF8, TBCC, TCTE1, TDRG1, TFEB, TJAP1, TMEM151B, TMEM63B, TOMM6, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TSPO2, TTBK1, UBR2, UNC5CL, USP49, VEGFA, XPO5, YIPF3, ZFAND3, ZNF318
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr6:41605799-46480686
GRCh38:
Chr6:41638061-46512949
LOC123620117, LOC123620118, LOC123620119, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC123744813, LOC123744814, LOC126859675, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC126859681, LOC126859682, LOC129389516, LOC129389517, LOC129389518, LOC129389519, LOC129389520, LOC129389521, LOC129389522, LOC129389523, LOC129389524, LOC129389525, LOC129389526, LOC129389527, LOC129389528, 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, LOC129996530, LOC129996531, LOC129996532, LOC129996533, LOC129996534, LOC129996535, LOC129996536, LOC129996537, LOC129996538, LOC129996539, LOC129996540, LOC129996541, LOC129996542, LOC129996543, LOC129996544, LOC129996545, LOC129996546, LOC129996547, LOC129996548, LOC129996549, LOC129996550, LOC129996551, LOC129996552, LOC129996553, LOC129996554, LOC129996555, LOC129996556, LOC129996557, LOC129996558, LOC129996559, LOC129996560, LOC129996561, LOC129996562, LOC129996563, LOC129996564, LOC129996565, LOC129996566, LOC129996567, LOC129996568, LOC129996569, LOC129996570, LOC129996571, LOC129996572, LOC129996573, LOC129996574, LOC129996575, LOC129996576, LOC129996577, LOC129996578, LOC129996579, LOC129996580, LOC129996581, LOC129996582, LOC129996583, LOC129996584, LOC129996585, LOC129996586, LOC129996587, LOC129996588, LOC129996589, LOC129996590, LOC132089385, LOC132089386, LOC132089387, LOC132089388, LOC132089389, LOC132089390, LOC132089391, LOC132089392, LOC132089393, LOC132089394, LOC132089395, LOC132089396, LOC132089397, LOC401261, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MIR10398, MIR4642, MIR4647, MIR586, MIR6780B, MRPL14, MRPL2, MRPS10, MRPS18A, MYMX, NFKBIE, PEX6, PGC, POLH, POLR1C, PPP2R5D, PRICKLE4, PRPH2, PTCRA, PTK7, RCAN2, RCAN2-DT, RPL7L1, RRP36, RSPH9, RUNX2, RUNX2-AS1, SCIRT, SLC22A7, SLC29A1, SLC35B2, SPATS1, SRF, SUPT3H, TAF8, TBCC, TCTE1, TFEB, TJAP1, TMEM151B, TMEM63B, TOMM6, TRERF1, TTBK1, UBR2, USP49, VEGFA, XPO5, YIPF3, ZNF318, AARS2, ABCC10, BICRAL, BYSL, C6orf132, C6orf226, CAPN11, CCND3, CDC5L, CIMIP3, CLIC5, CNPY3, CNPY3-GNMT, CRIP3, CUL7, CUL9, DLK2, DNPH1, ENPP4, ENPP5, FRS3, GNMT, GTPBP2, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, HSP90AB1, KLC4, KLHDC3, LINC01512, LINC02537, LINC02976, LINC03040, LOC101926915, LOC105375075, LOC107986596, LOC109611589, LOC109611593, LOC110121112, LOC111721708, LOC111828528, LOC113175003, LOC113175004, LOC113175005, LOC116183061, LOC116183062, LOC116183063, LOC121132684, LOC121132685, LOC121132686
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr6:42336296-44558281
GRCh38:
Chr6:42368558-44590544
AARS2, ABCC10, BICRAL, C6orf226, CAPN11, CDC5L, CNPY3, CNPY3-GNMT, CRIP3, CUL7, CUL9, DLK2, DNPH1, GNMT, GTPBP2, HSP90AB1, KLC4, KLHDC3, LINC01512, LINC02537, LINC02976, LINC03040, LOC105375075, LOC107986596, LOC113175004, LOC113175005, LOC116183063, LOC121132684, LOC121132685, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC129389517, LOC129389518, LOC129389519, LOC129389520, LOC129389521, LOC129389522, 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, LOC129996530, LOC129996531, LOC129996532, LOC129996533, LOC129996534, LOC129996535, LOC129996536, LOC129996537, LOC129996538, LOC129996539, LOC129996540, LOC129996541, LOC129996542, LOC129996543, LOC129996544, LOC129996545, LOC129996546, LOC129996547, LOC129996548, LOC129996549, LOC129996550, LOC129996551, LOC129996552, LOC129996553, LOC129996554, LOC129996555, LOC129996556, LOC129996557, LOC129996558, LOC129996559, LOC129996560, LOC129996561, LOC129996562, LOC129996563, LOC129996564, LOC129996565, LOC129996566, LOC129996567, LOC129996568, LOC129996569, LOC129996570, LOC129996571, LOC129996572, LOC129996573, LOC129996574, LOC132089385, LOC132089386, LOC132089387, LOC132089388, LOC132089389, LOC132089390, LOC132089391, LOC132089392, LOC132089393, LOC132089394, LOC132089395, LOC132089396, LOC401261, LRRC73, MAD2L1BP, MEA1, MIR4642, MIR4647, MIR6780B, MRPL14, MRPL2, MRPS18A, MYMX, NFKBIE, PEX6, POLH, POLR1C, PPP2R5D, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, RSPH9, SCIRT, SLC22A7, SLC29A1, SLC35B2, SPATS1, SRF, TBCC, TCTE1, TJAP1, TMEM151B, TMEM63B, TRERF1, TTBK1, UBR2, VEGFA, XPO5, YIPF3, ZNF318
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr6:43005163-43005164
GRCh38:
Chr6:43037425-43037426
CUL7not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr6:43005355
GRCh38:
Chr6:43037617
CUL73M syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr6:43005369
GRCh38:
Chr6:43037631
CUL73M syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr6:43005430
GRCh38:
Chr6:43037692
CUL7R1697L, R1698L, R1730L, R1702Lnot providedUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr6:43005430
GRCh38:
Chr6:43037692
CUL7R1702Q, R1730Q, R1697Q, R1698Qnot provided, 3M syndrome 1Uncertain significance
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr6:43005435
GRCh38:
Chr6:43037697
CUL7not specified, not provided, 3M syndrome 1
Benign
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr6:43005443
GRCh38:
Chr6:43037705
CUL7F1694V, F1693V, F1698V, F1726Vnot provided, Inborn genetic diseasesUncertain significance
(Feb 21, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr6:43005451
GRCh38:
Chr6:43037713
CUL7T1691I, T1690I, T1695I, T1723Inot provided, 3M syndrome 1Uncertain significance
(Nov 23, 2021)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr6:43005482
GRCh38:
Chr6:43037744
CUL7R1713G, R1681G, R1685G, R1680G3M syndrome 1Uncertain significance
(Aug 26, 2019)
criteria provided, single submitter
14.
GRCh37:
Chr6:43005482
GRCh38:
Chr6:43037744
CUL7R1681W, R1680W, R1685W, R1713Wnot provided, 3M syndrome 1Uncertain significance
(Apr 24, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr6:43005493-43005494
GRCh38:
Chr6:43037755-43037756
CUL7Q1676fs, Q1677fs, Q1681fs, Q1709fs3M syndrome 1Uncertain significance
(Sep 13, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr6:43005494
GRCh38:
Chr6:43037756
CUL7Q1681K, Q1709K, Q1676K, Q1677KInborn genetic diseasesUncertain significance
(Feb 22, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr6:43005494
GRCh38:
Chr6:43037756
CUL7Q1676*, Q1681*, Q1709*, Q1677*not specifiedUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr6:43005512
GRCh38:
Chr6:43037774
CUL7L1671F, L1670F, L1703F, L1675Fnot providedUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr6:43005551
GRCh38:
Chr6:43037813
CUL7E1658K, E1690K, E1662K, E1657K3M syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr6:43005568
GRCh38:
Chr6:43037830
CUL7V1656A, V1651A, V1652A, V1684Anot providedUncertain significance
(May 18, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr6:43005572
GRCh38:
Chr6:43037834
CUL7T1651P, T1683P, T1650P, T1655Pnot provided, Inborn genetic diseasesUncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr6:43005586
GRCh38:
Chr6:43037848
CUL7Y1645C, Y1646C, Y1650C, Y1678Cnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr6:43005587
GRCh38:
Chr6:43037849
CUL7Y1646H, Y1645H, Y1650H, Y1678Hnot providedUncertain significance
(Aug 25, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr6:43005588
GRCh38:
Chr6:43037850
CUL7not provided, 3M syndrome 1Benign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr6:43005604
GRCh38:
Chr6:43037866
CUL7R1640Q, R1644Q, R1672Q, R1639QInborn genetic diseases, not providedUncertain significance
(Jan 4, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr6:43005606
GRCh38:
Chr6:43037868
CUL7not providedLikely benign
(Apr 1, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr6:43005609
GRCh38:
Chr6:43037871
CUL7not specified, not providedBenign/Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr6:43005611-43005612
GRCh38:
Chr6:43037873-43037874
CUL7D1637*, D1638*, D1642*, D1670*no interpretation for the single variantno interpretation for the single variant
29.
GRCh37:
Chr6:43005616
GRCh38:
Chr6:43037878
CUL7R1636H, R1635H, R1640H, R1668HInborn genetic diseasesUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr6:43005625
GRCh38:
Chr6:43037887
CUL7T1633M, T1632M, T1637M, T1665Mnot specified, not provided, 3M syndrome 1
Benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr6:43005635
GRCh38:
Chr6:43037897
CUL7G1629S, G1630S, G1634S, G1662Snot providedUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr6:43005637
GRCh38:
Chr6:43037899
CUL7L1628P, L1629P, L1633P, L1661Pnot providedUncertain significance
(Oct 5, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr6:43005637
GRCh38:
Chr6:43037899
CUL7L1633R, L1661R, L1628R, L1629Rnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr6:43005647
GRCh38:
Chr6:43037909
CUL7L1626V, L1625V, L1630V, L1658Vnot provided, 3M syndrome 1Conflicting interpretations of pathogenicity
(Oct 8, 2022)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr6:43005652
GRCh38:
Chr6:43037914
CUL7C1623Y, C1656Y, C1624Y, C1628Ynot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr6:43005675
GRCh38:
Chr6:43037937
CUL7C1615*, C1616*, C1620*, C1648*3M syndrome 1Uncertain significancecriteria provided, single submitter
37.
GRCh37:
Chr6:43005700
GRCh38:
Chr6:43037962
CUL7S1607N, S1612N, S1640N, S1608Nnot provided, 3M syndrome 1Uncertain significance
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr6:43005704
GRCh38:
Chr6:43037966
CUL7V1606I, V1607I, V1611I, V1639Inot providedUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr6:43005713-43005714
GRCh38:
Chr6:43037975-43037976
CUL7R1608fs, R1604fs, R1636fs, R1603fsnot providedUncertain significance
(Mar 15, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr6:43005729
GRCh38:
Chr6:43037991
CUL7not provided, 3M syndrome 1Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr6:43005742-43005743
GRCh38:
Chr6:43038004-43038005
CUL7E1594fs, E1598fs, E1626fs, E1593fsnot providedPathogenic
(Sep 6, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr6:43005757
GRCh38:
Chr6:43038019
CUL7not providedLikely benign
(Oct 27, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr6:43005759
GRCh38:
Chr6:43038021
CUL7not providedLikely benign
(Sep 17, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr6:43005760
GRCh38:
Chr6:43038022
CUL7not providedLikely benign
(Oct 8, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr6:43005766-43005767
GRCh38:
Chr6:43038028-43038029
CUL7not providedLikely benign
(Jul 1, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr6:43006004
GRCh38:
Chr6:43038266
CUL7not providedPathogenic
(Sep 2, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr6:43006005-43006008
GRCh38:
Chr6:43038267-43038270
CUL7C1589fs, C1590fs, C1594fs, C1622fs3M syndrome 1Pathogenic
(Mar 10, 2021)
no assertion criteria provided
48.
GRCh37:
Chr6:43006015
Chr6:43012533
GRCh38:
Chr6:43038277
Chr6:43044795
CUL7, CUL7L1587P, L1588P, L1592P, L1620P, W1043*, W1075*3M syndrome 1Pathogenic
(May 31, 2019)
no assertion criteria provided
49.
GRCh37:
Chr6:43006015
GRCh38:
Chr6:43038277
CUL7L1587P, L1588P, L1592P, L1620P3-M syndrome, not providedConflicting interpretations of pathogenicity
(Feb 16, 2023)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr6:43006016
GRCh38:
Chr6:43038278
CUL7L1588I, L1587I, L1592I, L1620Inot specified, not provided, 3M syndrome 1
Benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr6:43006019
GRCh38:
Chr6:43038281
CUL7Q1586*, Q1591*, Q1587*, Q1619*not providedPathogenic
(Nov 8, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr6:43006045
GRCh38:
Chr6:43038307
CUL7H1578R, H1582R, H1610R, H1577Rnot providedUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr6:43006047
GRCh38:
Chr6:43038309
CUL7not providedBenign
(Jul 12, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr6:43006049
GRCh38:
Chr6:43038311
CUL7A1576T, A1581T, A1577T, A1609Tnot providedUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr6:43006061
GRCh38:
Chr6:43038323
CUL7R1573*, R1572*, R1577*, R1605*Inborn genetic diseases, not providedPathogenic
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr6:43006065
GRCh38:
Chr6:43038327
CUL7not providedUncertain significance
(Jan 17, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr6:43006085
GRCh38:
Chr6:43038347
CUL7N1597Y, N1564Y, N1569Y, N1565Ynot providedUncertain significance
(Dec 16, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr6:43006088
GRCh38:
Chr6:43038350
CUL7R1564W, R1563W, R1568W, R1596Wnot provided, 3M syndrome 1Uncertain significance
(Nov 24, 2021)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr6:43006095
GRCh38:
Chr6:43038357
CUL73M syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr6:43006097
GRCh38:
Chr6:43038359
CUL7E1561Q, E1560Q, E1565Q, E1593Qnot providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr6:43006110
GRCh38:
Chr6:43038372
CUL7not providedLikely benign
(Oct 19, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr6:43006119
GRCh38:
Chr6:43038381
CUL7not provided, 3M syndrome 1Conflicting interpretations of pathogenicity
(Oct 21, 2022)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr6:43006120-43006121
GRCh38:
Chr6:43038382-43038383
CUL7E1552R, E1553R, E1557R, E1585Rnot providedUncertain significance
(Jan 8, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr6:43006127
GRCh38:
Chr6:43038389
CUL7Q1550*, Q1551*, Q1555*, Q1583*3M syndrome 1Pathogeniccriteria provided, single submitter
65.
GRCh37:
Chr6:43006134
GRCh38:
Chr6:43038396
CUL7not providedLikely benign
(Sep 6, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr6:43006153
GRCh38:
Chr6:43038415
CUL7R1542Q, R1541Q, R1546Q, R1574QInborn genetic diseases, 3-M syndrome, not provided
Uncertain significance
(Aug 11, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr6:43006171
GRCh38:
Chr6:43038433
CUL7S1535L, S1540L, S1568L, S1536L3M syndrome 1Uncertain significance
(Aug 22, 2019)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr6:43006173
GRCh38:
Chr6:43038435
CUL73M syndrome 1Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr6:43006191
GRCh38:
Chr6:43038453
CUL7not providedLikely benign
(Jun 23, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr6:43006196
GRCh38:
Chr6:43038458
CUL7R1527*, R1532*, R1560*, R1528*not providedPathogenic
(Dec 19, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr6:43006196-43006197
GRCh38:
Chr6:43038458-43038459
CUL7R1528fs, R1527fs, R1532fs, R1560fsYakut short stature syndromePathogenic
(Dec 1, 2007)
no assertion criteria provided
72.
GRCh37:
Chr6:43006208
GRCh38:
Chr6:43038470
CUL7V1524I, V1556I, V1523I, V1528I3M syndrome 1, not providedUncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr6:43006225-43006226
GRCh38:
Chr6:43038487-43038488
CUL7not providedLikely benign
(May 3, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr6:43006310
GRCh38:
Chr6:43038572
CUL7P1520S, P1521S, P1553Snot providedUncertain significance
(Dec 8, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr6:43006318
GRCh38:
Chr6:43038580
CUL7K1518R, K1517R, K1550Rnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr6:43006326
GRCh38:
Chr6:43038588
CUL7not providedLikely benign
(Feb 4, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr6:43006342
GRCh38:
Chr6:43038604
CUL7G1510V, G1509V, G1542Vnot providedLikely pathogenicno assertion criteria provided
78.
GRCh37:
Chr6:43006353
GRCh38:
Chr6:43038615
CUL7not providedLikely benign
(Sep 15, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr6:43006356
GRCh38:
Chr6:43038618
CUL7not providedLikely benign
(May 4, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr6:43006367
GRCh38:
Chr6:43038629
CUL7I1534F, I1501F, I1502F3M syndrome 1Uncertain significance
(Jan 30, 2020)
criteria provided, single submitter
81.
GRCh37:
Chr6:43006369
GRCh38:
Chr6:43038631
CUL7A1501V, A1500V, A1533Vnot providedUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr6:43006388
GRCh38:
Chr6:43038650
CUL7A1495T, A1527T, A1494Tnot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr6:43006389
GRCh38:
Chr6:43038651
CUL7not providedConflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr6:43006395
GRCh38:
Chr6:43038657
CUL7L1493fs, L1492fs, L1525fsnot providedPathogenic
(Jul 19, 2017)
criteria provided, single submitter
85.
GRCh37:
Chr6:43006404
GRCh38:
Chr6:43038666
CUL7not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:43006405
GRCh38:
Chr6:43038667
CUL7A1489V, A1488V, A1521Vnot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr6:43006407
GRCh38:
Chr6:43038669
CUL7not providedLikely benign
(Oct 5, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:43006408
GRCh38:
Chr6:43038670
CUL7L1488P, L1487P, L1520Pnot provided, 3M syndrome 1Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr6:43006419-43006420
GRCh38:
Chr6:43038681-43038682
CUL7V1483fs, V1484fs, V1516fsCUL7-related condition, 3M syndrome 1Pathogenic
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr6:43006425
GRCh38:
Chr6:43038687
CUL7not providedLikely benign
(Feb 24, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr6:43006428
GRCh38:
Chr6:43038690
CUL7not provided, 3M syndrome 1Conflicting interpretations of pathogenicity
(Mar 22, 2022)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr6:43006446
GRCh38:
Chr6:43038708
CUL7not providedLikely benign
(Jul 14, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:43006566
GRCh38:
Chr6:43038828
CUL7not providedLikely benign
(Feb 11, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr6:43006567
GRCh38:
Chr6:43038829
CUL7not provided, 3M syndrome 1Conflicting interpretations of pathogenicity
(Sep 4, 2021)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr6:43006577
GRCh38:
Chr6:43038839
CUL7not providedUncertain significance
(Aug 16, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr6:43006588
GRCh38:
Chr6:43038850
CUL7D1477N, D1510N, D1478Nnot providedUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr6:43006589
GRCh38:
Chr6:43038851
CUL7not providedLikely benign
(Oct 5, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr6:43006590
GRCh38:
Chr6:43038852
CUL7N1509S, N1476S, N1477Snot providedUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr6:43006601
GRCh38:
Chr6:43038863
CUL7not providedUncertain significance
(Aug 31, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr6:43006603
GRCh38:
Chr6:43038865
CUL7not provided, 3M syndrome 1Conflicting interpretations of pathogenicity
(Feb 26, 2021)
criteria provided, conflicting interpretations
Format
Items per page
Sort by
Choose Destination