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 147

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:
Chr6:43505094-43752189
GRCh38:
Chr6:43537357-43784452
See casesUncertain significance
(Feb 14, 2012)
no assertion criteria provided
6.
GRCh37:
Chr6:43589361
GRCh38:
Chr6:43621624
GTPBP2, POLR1CM600T, M512TInborn genetic diseasesUncertain significance
(Mar 24, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr6:43589376
GRCh38:
Chr6:43621639
GTPBP2, POLR1CE595A, E507Anot providedUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr6:43589381
GRCh38:
Chr6:43621644
GTPBP2, POLR1Cnot providedLikely benign
(Jul 24, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr6:43589399
GRCh38:
Chr6:43621662
GTPBP2, POLR1Cnot providedLikely benign
(Jul 30, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr6:43589403
GRCh38:
Chr6:43621666
GTPBP2, POLR1CT586S, T498Snot providedUncertain significance
(Nov 11, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr6:43589414
GRCh38:
Chr6:43621677
GTPBP2, POLR1Cnot providedLikely benign
(Oct 25, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr6:43589417
GRCh38:
Chr6:43621680
GTPBP2, POLR1Cnot providedBenign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr6:43589441
GRCh38:
Chr6:43621704
GTPBP2, POLR1Cnot providedLikely benign
(Jul 14, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr6:43589449
GRCh38:
Chr6:43621712
GTPBP2, POLR1CK483Q, K571QInborn genetic diseasesUncertain significance
(May 18, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr6:43589462
GRCh38:
Chr6:43621725
GTPBP2, POLR1Cnot providedLikely benign
(Dec 2, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr6:43589487
GRCh38:
Chr6:43621750
GTPBP2, POLR1CR470H, R558Hnot providedBenign
(Oct 5, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr6:43589488
GRCh38:
Chr6:43621751
GTPBP2, POLR1CR470C, R558Cnot providedUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr6:43589493
GRCh38:
Chr6:43621756
GTPBP2, POLR1CR468H, R556HInborn genetic diseases, not providedUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr6:43589510
GRCh38:
Chr6:43621773
GTPBP2, POLR1Cnot providedLikely benign
(Feb 17, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr6:43589510
GRCh38:
Chr6:43621773
GTPBP2, POLR1Cnot providedLikely benign
(Sep 27, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr6:43589534
GRCh38:
Chr6:43621797
GTPBP2, POLR1Cnot providedLikely benign
(Sep 15, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr6:43589737
GRCh38:
Chr6:43622000
GTPBP2, POLR1Cnot providedUncertain significance
(May 8, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr6:43589743
GRCh38:
Chr6:43622006
GTPBP2, POLR1Cnot providedLikely benign
(Feb 8, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr6:43589747
GRCh38:
Chr6:43622010
GTPBP2, POLR1CH542R, H454RInborn genetic diseasesUncertain significance
(Dec 6, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr6:43589763
GRCh38:
Chr6:43622026
GTPBP2, POLR1CV537L, V449Lnot providedUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr6:43589766
GRCh38:
Chr6:43622029
GTPBP2, POLR1CA448S, A536Snot provided, Inborn genetic diseasesUncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr6:43589767
GRCh38:
Chr6:43622030
GTPBP2, POLR1Cnot providedLikely benign
(Sep 16, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:43589788
GRCh38:
Chr6:43622051
GTPBP2, POLR1Cnot providedLikely benign
(Feb 14, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr6:43589794
GRCh38:
Chr6:43622057
GTPBP2, POLR1Cnot providedLikely benign
(Oct 25, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr6:43589800
GRCh38:
Chr6:43622063
GTPBP2, POLR1Cnot providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr6:43589814
GRCh38:
Chr6:43622077
GTPBP2, POLR1CR432*Jaberi-Elahi syndromePathogenic
(Sep 13, 2022)
no assertion criteria provided
32.
GRCh37:
Chr6:43589824
GRCh38:
Chr6:43622087
POLR1C, GTPBP2not providedLikely benign
(Apr 8, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr6:43589826
GRCh38:
Chr6:43622089
GTPBP2, POLR1CA516T, A428TInborn genetic diseasesUncertain significance
(Dec 16, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr6:43589844-43589845
GRCh38:
Chr6:43622107-43622108
GTPBP2, POLR1CE421fs, E509fsJaberi-Elahi syndromeLikely pathogeniccriteria provided, single submitter
35.
GRCh37:
Chr6:43589846
GRCh38:
Chr6:43622109
GTPBP2, POLR1CE509A, E421Anot providedUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr6:43589860
GRCh38:
Chr6:43622123
GTPBP2, POLR1Cnot providedLikely benign
(Sep 6, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:43589863
GRCh38:
Chr6:43622126
GTPBP2, POLR1Cnot providedLikely benign
(Aug 6, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:43589918
GRCh38:
Chr6:43622181
GTPBP2, POLR1Cnot providedBenign
(Oct 27, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr6:43589923
GRCh38:
Chr6:43622186
GTPBP2, POLR1Cnot providedLikely benign
(May 3, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr6:43590259-43590260
GRCh38:
Chr6:43622522-43622523
GTPBP2, POLR1Cnot providedBenign
(May 20, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr6:43590393
GRCh38:
Chr6:43622656
GTPBP2, POLR1CF394L, F482LInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr6:43590403
GRCh38:
Chr6:43622666
GTPBP2, POLR1Cnot providedLikely benign
(Jul 28, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr6:43590408
GRCh38:
Chr6:43622671
GTPBP2, POLR1Cnot providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr6:43590429
GRCh38:
Chr6:43622692
POLR1C, GTPBP2R470*, R382*Jaberi-Elahi syndromePathogenic
(Sep 13, 2022)
no assertion criteria provided
45.
GRCh37:
Chr6:43590433
GRCh38:
Chr6:43622696
GTPBP2, POLR1Cnot providedBenign
(Sep 27, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr6:43590437
GRCh38:
Chr6:43622700
GTPBP2, POLR1CR379P, R467PInborn genetic diseasesUncertain significance
(May 17, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr6:43591451
GRCh38:
Chr6:43623714
GTPBP2, POLR1Cnot providedBenign
(May 12, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr6:43591460
GRCh38:
Chr6:43623723
GTPBP2, POLR1Cnot providedLikely benign
(Jul 31, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:43591533
GRCh38:
Chr6:43623796
GTPBP2, POLR1CJaberi-Elahi syndromePathogenic
(May 23, 2018)
no assertion criteria provided
50.
GRCh37:
Chr6:43591660
GRCh38:
Chr6:43623923
GTPBP2, POLR1Cnot providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr6:43591669
GRCh38:
Chr6:43623932
GTPBP2, POLR1CJaberi-Elahi syndromeLikely pathogeniccriteria provided, single submitter
52.
GRCh37:
Chr6:43591687
GRCh38:
Chr6:43623950
GTPBP2, POLR1CQ407*, Q319*Jaberi-Elahi syndromePathogenic
(May 22, 2018)
no assertion criteria provided
53.
GRCh37:
Chr6:43591700
GRCh38:
Chr6:43623963
GTPBP2, POLR1Cnot providedLikely benign
(Dec 16, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr6:43591718-43591719
GRCh38:
Chr6:43623981-43623982
GTPBP2, POLR1CN309fs, N397fsJaberi-Elahi syndromeLikely pathogenic
(Jul 22, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr6:43591719
GRCh38:
Chr6:43623982
GTPBP2, POLR1CT396I, T308Inot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr6:43591724
GRCh38:
Chr6:43623987
GTPBP2, POLR1Cnot providedLikely benign
(Oct 19, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr6:43591727
GRCh38:
Chr6:43623990
GTPBP2, POLR1Cnot providedLikely benign
(Aug 19, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr6:43591760
GRCh38:
Chr6:43624023
GTPBP2, POLR1Cnot providedLikely benign
(Jul 19, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr6:43591808
GRCh38:
Chr6:43624071
GTPBP2, POLR1Cnot providedUncertain significance
(Jan 28, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr6:43591985-43591988
GRCh38:
Chr6:43624248-43624251
GTPBP2, POLR1Cnot providedBenign
(May 20, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr6:43592270
GRCh38:
Chr6:43624533
GTPBP2, POLR1Cnot providedLikely benign
(Jul 14, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr6:43592293-43592294
GRCh38:
Chr6:43624556-43624557
GTPBP2, POLR1CE264fs, E352fsJaberi-Elahi syndromePathogenic
(Jan 3, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr6:43592344
GRCh38:
Chr6:43624607
GTPBP2, POLR1CR247W, R335Wnot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr6:43592376
GRCh38:
Chr6:43624639
GTPBP2, POLR1CT324S, T236SInborn genetic diseasesUncertain significance
(May 17, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr6:43592384
GRCh38:
Chr6:43624647
GTPBP2, POLR1Cnot providedLikely benign
(May 19, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr6:43592408
GRCh38:
Chr6:43624671
GTPBP2, POLR1CI225M, I313MJaberi-Elahi syndromeUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr6:43592438
GRCh38:
Chr6:43624701
GTPBP2, POLR1Cnot providedLikely benign
(Jan 4, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr6:43592478
GRCh38:
Chr6:43624741
GTPBP2, POLR1Cnot providedLikely benign
(Mar 1, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr6:43592483
GRCh38:
Chr6:43624746
GTPBP2, POLR1Cnot providedLikely benign
(Apr 10, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr6:43592484
GRCh38:
Chr6:43624747
GTPBP2, POLR1CSee casesUncertain significance
(Sep 23, 2019)
criteria provided, single submitter
71.
GRCh37:
Chr6:43592614
GRCh38:
Chr6:43624877
GTPBP2, POLR1Cnot providedLikely benign
(May 21, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr6:43592646
GRCh38:
Chr6:43624909
POLR1C, GTPBP2V199L, V287LInborn genetic diseasesUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr6:43592647
GRCh38:
Chr6:43624910
GTPBP2, POLR1Cnot providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr6:43592659
GRCh38:
Chr6:43624922
GTPBP2, POLR1Cnot providedLikely benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr6:43592664
GRCh38:
Chr6:43624927
GTPBP2, POLR1CD193N, D281NInborn genetic diseasesUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:43592728
GRCh38:
Chr6:43624991
GTPBP2, POLR1Cnot providedLikely benign
(May 14, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr6:43593080
GRCh38:
Chr6:43625343
GTPBP2, POLR1Cnot providedLikely benign
(Mar 7, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr6:43593091
GRCh38:
Chr6:43625354
GTPBP2, POLR1Cnot providedLikely benign
(Nov 16, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr6:43593150
GRCh38:
Chr6:43625413
GTPBP2, POLR1CR131*Jaberi-Elahi syndromePathogenic
(Sep 13, 2022)
no assertion criteria provided
80.
GRCh37:
Chr6:43593162
GRCh38:
Chr6:43625425
GTPBP2, POLR1CI127V, I215Vnot providedUncertain significance
(Sep 15, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr6:43593215-43593216
GRCh38:
Chr6:43625478-43625479
GTPBP2, POLR1CL109fs, L197fsnot providedPathogenic
(May 15, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:43593258
GRCh38:
Chr6:43625521
GTPBP2, POLR1CS95A, S183Anot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr6:43593259
GRCh38:
Chr6:43625522
GTPBP2, POLR1Cnot providedLikely benign
(Apr 24, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr6:43593273
GRCh38:
Chr6:43625536
GTPBP2, POLR1Cnot providedLikely benign
(Sep 8, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:43593285
GRCh38:
Chr6:43625548
GTPBP2, POLR1CR174C, R86Cnot providedUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr6:43593289
GRCh38:
Chr6:43625552
GTPBP2, POLR1Cnot providedBenign
(Aug 2, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr6:43593476
GRCh38:
Chr6:43625739
GTPBP2, POLR1Cnot providedLikely benign
(Aug 5, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:43593480
GRCh38:
Chr6:43625743
GTPBP2, POLR1Cnot providedLikely benign
(Jan 14, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr6:43593520
GRCh38:
Chr6:43625783
GTPBP2, POLR1Cnot providedLikely benign
(Jun 16, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr6:43593529
GRCh38:
Chr6:43625792
GTPBP2, POLR1Cnot providedLikely benign
(Aug 10, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:43593543
GRCh38:
Chr6:43625806
GTPBP2, POLR1CP153S, P65Snot providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:43593546
GRCh38:
Chr6:43625809
GTPBP2, POLR1CM152V, M64Vnot providedUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:43593549
GRCh38:
Chr6:43625812
GTPBP2, POLR1CD151N, D63Nnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr6:43593550
GRCh38:
Chr6:43625813
GTPBP2, POLR1Cnot providedBenign
(Oct 21, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr6:43593555
GRCh38:
Chr6:43625818
GTPBP2, POLR1CD61N, D149Nnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr6:43593570
GRCh38:
Chr6:43625833
GTPBP2, POLR1CR144*, R56*Jaberi-Elahi syndromePathogenic
(May 22, 2018)
no assertion criteria provided
97.
GRCh37:
Chr6:43593582
GRCh38:
Chr6:43625845
GTPBP2, POLR1CV140I, V52Inot provided, Inborn genetic diseasesUncertain significance
(Mar 29, 2023)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr6:43593583
GRCh38:
Chr6:43625846
GTPBP2, POLR1Cnot providedLikely benign
(Aug 10, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr6:43593614
GRCh38:
Chr6:43625877
GTPBP2, POLR1Cnot providedLikely benign
(Aug 6, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr6:43593757
GRCh38:
Chr6:43626020
GTPBP2, POLR1Cnot providedBenign
(May 20, 2021)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination