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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:156974-46757028
GRCh38:
Chr6:156974-46789291
CYP39A1, DAAM2, DAAM2-AS1, DAXX, DCDC2, DDAH2, DDR1, DDX39B, DDX39B-AS1, DEF6, DEK, DHX16, DINOL, DLK2, DNAH8, DNAH8-AS1, DNAH8-DT, DNPH1, DSP, DSP-AS1, DTNBP1, DUSP22, DXO, E2F3, E2F3-IT1, ECI2, ECI2-DT, EDN1, EEF1E1, EEF1E1-BLOC1S5, EGFL8, EHMT2, EHMT2-AS1, ELOVL2, ELOVL2-AS1, ENPP4, ENPP5, ERVFRD-1, ERVK9-12, ETV7, ETV7-AS1, EXOC2, F13A1, FAM217A, FAM50B, FAM8A1, FANCE, FARS2, FARS2-AS1, FGD2, FKBP5, FKBPL, FLOT1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXP4, FOXP4-AS1, FOXQ1, FRS3, GABBR1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GLO1, GLP1R, GMDS, GMDS-DT, GMNN, GMPR, GNL1, GNMT, GPANK1, GPLD1, GPSM3, GPX5, GPX6, GRM4, H1-2, GTF2H4, GTPBP2, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, H1-1, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC6-AS1, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HCG11, HCG14, HCG15, HCG17, HCG18, HCG20, HCG21, HCG22, HUS1B, HCG23, HCG24, HCG25, HLA-DQB1-AS1, HCG26, HCG27, HCG4, HSP90AB1, HCG4B, HCG9, HCP5, HLA-DRB5, HCP5B, HDGFL1, HFE, HFE-AS1, HIVEP1, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-E, HLA-F, HLA-F-AS1, HLA-G, HMGA1, HMGN4, HSD17B8, HSPA1A, HSPA1B, HSPA1L, HULC, ID4, IER3, IER3-AS1, ILRUN, ILRUN-AS1, IP6K3, IRF4, ITPR3, ITPR3-AS1, JARID2, JARID2-AS1, JARID2-DT, KAAG1, KCNK16, KCNK17, KCNK5, KCTD20, KDM1B, KIAA0319, KIF13A, KIF6, KIFC1, KLC4, KLHDC3, KU-MEL-3, LARRPM, LEMD2, LHFPL5, LINC00240, LINC00243, LINC00336, LINC00518, LINC00533, LINC00581, LINC00951, LINC01011, LINC01012, LINC01015, LINC01016, LINC01108, LINC01149, LINC01276, LINC01394, LINC01512, LINC01556, LINC01600, LINC01622, LINC01623, LINC02520, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LINC02537, LINC02543, LINC02569, LINC02570, LINC02571, LINC02828, LINC02829, LINC02976, LINC02980, LINC03003, LINC03005, LINC03040, LINC03066, LNC-LBCS, LOC100130357, LOC100131289, LOC100287329, LOC100294145, LOC100422781, LOC100506207, LOC100507336, LOC100507547, LOC101926915, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC101929309, LOC101929535, LOC101929555, LOC102724096, LOC102724749, LOC102724765, LOC105374901, LOC105374928, LOC105374943, LOC105374960, LOC105374988, LOC105374989, LOC105375022, LOC105375026, LOC105375050, LOC105375075, LOC105379699, LOC106780800, LOC106780803, LOC106780804, LOC106794091, LOC106799837, LOC106799842, LOC107063610, LOC107403164, LOC107648851, LOC107648856, LOC107648859, LOC107648863, LOC107648864, LOC107648866, LOC107986531, LOC107986596, LOC108004539, LOC108281120, LOC108281124, LOC108281148, LOC108663993, LOC108961161, LOC109611589, LOC109611593, LOC110120645, LOC110120976, LOC110120988, LOC110121016, LOC110121052, LOC110121065, LOC110121068, LOC110121074, LOC110121080, LOC110121091, LOC110121112, LOC110121134, LOC110121220, LOC110121246, LOC110121247, LOC110121274, LOC110599562, LOC110631417, LOC111365167, LOC111365181, LOC111429610, LOC111429615, LOC111501776, LOC111556163, LOC111591500, LOC111721708, LOC111721709, LOC111828527, LOC111828528, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113146424, LOC113146425, LOC113174970, LOC113174974, LOC113174975, LOC113174976, LOC113174977, LOC113174978, LOC113174981, LOC113174982, LOC113174983, LOC113174984, LOC113174985, LOC113174986, LOC113174987, LOC113174988, LOC113174989, LOC113174991, LOC113174992, LOC113174993, LOC113174995, LOC113174996, LOC113174997, LOC113174998, LOC113174999, LOC113175000, LOC113175001, LOC113175002, LOC113175003, LOC113175004, LOC113175005, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114004399, LOC114004400, LOC114827825, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC116158540, LOC116158541, LOC116158542, LOC116158543, LOC116158544, LOC116158545, LOC116158546, LOC116158547, LOC116158548, LOC116158549, LOC116158550, LOC116158551, LOC116158552, LOC116183041, LOC116183042, LOC116183043, LOC116183044, LOC116183045, LOC116183046, LOC116183047, LOC116183048, LOC116183049, LOC116183050, LOC116183051, LOC116183052, LOC116183053, LOC116183054, LOC116183055, LOC116183056, LOC116183057, LOC116183058, LOC116183059, LOC116183060, LOC116183061, LOC116183062, LOC116183063, LOC120285838, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121113499, LOC121132669, LOC121132670, LOC121132671, LOC121132672, LOC121132673, LOC121132674, LOC121132675, LOC121132676, LOC121132677, LOC121132678, LOC121132679, LOC121132680, LOC121132681, LOC121132682, LOC121132683, LOC121132684, LOC121132685, LOC121132686, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, LOC121740643, LOC121740644, LOC121740645, LOC121740646, LOC121740647, LOC121740648, LOC123575642, LOC123575643, LOC123575644, LOC123575645, LOC123575646, LOC123575647, LOC123575648, LOC123575649, LOC123575650, LOC123575651, LOC123575652, LOC123575653, LOC123575654, LOC123575655, LOC123575656, LOC123575657, LOC123575658, LOC123575659, LOC123575660, LOC123575661, LOC123575662, LOC123575663, LOC123575664, LOC123575665, LOC123575666, LOC123575667, LOC123575668, LOC123575669, LOC123575670, LOC123575671, LOC123575672, LOC123575673, LOC123575674, LOC123575675, LOC123575676, LOC123575677, LOC123575678, LOC123575679, LOC123575680, LOC123620059, LOC123620060, LOC123620061, LOC123620062, LOC123620063, LOC123620064, LOC123620065, LOC123620066, LOC123620067, LOC123620068, LOC123620069, LOC123620070, LOC123620071, LOC123620072, LOC123620073, LOC123620074, LOC123620075, LOC123620076, LOC123620077, LOC123620078, LOC123620079, LOC123620080, LOC123620081, LOC123620082, LOC123620083, LOC123620084, LOC123620085, LOC123620086, LOC123620087, LOC123620088, LOC123620089, LOC123620090, LOC123620091, NHLRC1, NEU1, NFKBIE, NFKBIL1, NFYA, NKAPL, NOL7, NOTCH4, NQO2, NQO2-AS1, NRM, NRN1, NRSN1, NUDT3, NUP153, NUP153-AS1, OARD1, OFCC1, OR10C1, OR11A1, OR12D1, OR12D2, OR12D3, OR2B8P, OR14J1, OR1F12, OR2B2, OR2B3, OR2B6, OR2H1, OR2H2, OR2I1P, OR2J1, OR2J2, OR2J3, OR2W1, OR2W1-AS1, OR5V1, PACSIN1, PAK1IP1, PANDAR, PBX2, PEX6, PFDN6, PGBD1, PGC, PHACTR1, PHF1, PI16, PIM1, PLA2G7, PNPLA1, POLH, POLR1C, POLR1H, POM121L2, POU5F1, PPARD, PPIL1, PPP1R3G, PPP1R10, PPP1R11, PPP1R18, PPP2R5D, PPT2, PPT2-EGFL8, PRICKLE4, PRL, PRPF4B, PRPH2, PRR3, PRRC2A, PRRT1, PRSS16, PSMB8, PXDC1, PSMB8-AS1, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PSORS1C3, PTCRA, PTK7, PXT1, RAB44, RANBP9, RBM24, RCAN2, RCAN2-DT, RGL2, RING1, RIOK1, RIPK1, RIPOR2, RNF144B, RNF182, RNF39, RNF5, RNF8, RPL10A, RPL7L1, RPP21, RPP40, RPS10, RPS10-NUDT3, RPS18, RREB1, RRP36, RSPH9, RUNX2, RUNX2-AS1, RXRB, SAPCD1, SAPCD1-AS1, SAYSD1, SCAND3, SCARNA27, SCGN, SCIRT, SCUBE3, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SFTA2, SIRT5, SKIC2, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A23, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC35B2, SLC35B3, SLC39A7, SLC44A4, SMIM13, SMIM29, SMIM40, SNHG32, SNORA38, SRF, SNORD117, SNORD32B, SNORD48, SNORD52, SNORD84, SNRNP48, SNRPC, SOX4, SPATS1, SPDEF, SRPK1, SRSF3, SSR1, STK19, STK38, STMND1, SUPT3H, SYCP2L, SYNGAP1, SYNGAP1-AS1, TAF11, TAF8, TAP1, TAP2, TAPBP, TBC1D22B, TBC1D7, TBC1D7-LOC100130357, TBCC, TCF19, TCP11, TCTE1, TDP2, TDRD6, TDRD6-AS1, TDRG1, TEAD3, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TFEB, TJAP1, TMEM14B, TMEM14B-DT, TMEM14C, TMEM151B, TMEM170B, TMEM217, TMEM217B, TMEM63B, TNF, TNXB, TOMM6, TPMT, TRA-AGC1-1, TRA-AGC10-1, TRA-AGC11-1, TRA-AGC12-1, TRA-AGC14-1, TRA-AGC14-2, TRA-AGC2-1, TRA-AGC2-2, TRA-AGC3-1, TRA-AGC4-1, TRA-AGC5-1, TRA-AGC6-1, TRA-AGC7-1, TRA-AGC9-1, TRA-CGC1-1, TRA-CGC2-1, TRA-CGC4-1, TRA-TGC1-1, TRA-TGC2-1, TRA-TGC5-1, TRA-TGC6-1, TRA-TGC7-1, TRD-GTC2-6, TRD-GTC2-7, TRD-GTC3-1, TRE-CTC1-6, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRF-GAA1-1, TRF-GAA1-2, TRF-GAA3-1, TRF-GAA4-1, TRI-AAT3-1, TRF-GAA5-1, TRF-GAA6-1, TRG-GCC2-3, TRH-GTG1-5, TRI-AAT2-1, TRI-AAT5-1, TRI-AAT5-2, TRI-AAT5-3, TRI-AAT6-1, TRI-AAT7-1, TRI-AAT7-2, TRI-AAT8-1, TRI-AAT9-1, TRI-TAT2-2, TRI-TAT2-3, TRI-TAT3-1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM31-AS1, TRIM38, TRK-CTT2-4, TRIM39, TRIM39-RPP21, TRIM40, TRK-TTT3-3, TRK-TTT4-1, TRK-TTT6-1, TRK-TTT7-1, TRK-TTT9-1, TRL-AAG2-2, TRL-AAG3-1, TRL-AAG4-1, TRL-CAA1-1, TRL-CAA1-2, TRL-CAA2-1, TRL-CAA3-1, TRL-CAG1-7, TRL-TAA2-1, TRL-TAA4-1, TRM-CAT3-1, TRM-CAT3-2, TRM-CAT4-1, TRM-CAT4-2, TRM-CAT4-3, TRM-CAT5-1, TRM-CAT5-2, TRP-AGG2-2, TRP-CGG2-1, TRQ-CTG1-1, TRQ-CTG1-2, TRQ-TTG3-3, TRQ-CTG1-3, TRQ-CTG2-1, TRQ-CTG5-1, TRQ-CTG6-1, TRQ-TTG2-1, TRQ-TTG3-1, TRQ-TTG3-2, TRR-ACG1-1, TRR-ACG1-2, TRR-ACG2-2, TRR-ACG2-3, TRR-ACG2-4, TRR-CCG1-1, TRR-CCG1-2, TRR-TCG2-1, TRR-TCG4-1, TRR-TCG5-1, TRR-TCT5-1, TRS-AGA1-1, TRS-AGA2-1, TRS-AGA2-2, TRS-AGA2-3, TRS-AGA2-4, TRS-AGA3-1, TRS-AGA4-1, TRS-CGA2-1, TRS-CGA3-1, TRS-GCT1-1, TRS-GCT2-1, TRS-GCT4-1, TRS-GCT5-1, TRS-GCT6-1, TRS-TGA2-1, TRS-TGA3-1, TRS-TGA4-1, TRT-AGT2-1, TRT-AGT2-2, TRT-AGT3-1, TRT-AGT4-1, TRT-AGT6-1, TRT-CGT1-1, TRT-CGT3-1, TRT-CGT5-1, TRT-TGT1-1, TRV-AAC1-5, TRV-AAC3-1, TRV-AAC4-1, TRV-AAC5-1, TRV-AAC6-1, TRV-CAC1-6, TRV-CAC2-1, TRV-CAC6-1, TRV-CAC7-1, TRV-CAC9-1, TRV-TAC4-1, TRW-CCA3-1, TRW-CCA3-2, TRX-CAT1-2, TRX-CAT1-3, TRX-CAT1-4, TRX-CAT1-5, TRX-CAT1-6, TRX-CAT1-7, TRX-CAT2-1, TRY-GTA1-1, TRY-GTA3-1, TRY-GTA6-1, TRY-GTA8-1, TSBP1, TSBP1-AS1, TSPO2, TTBK1, TUBB, TUBB2A, TUBB2B, TULP1, TXNDC5, UBD, UBR2, UNC5CL, UQCC2, USP49, VARS1, VARS2, VEGFA, VPS52, VWA7, ZNF184, WDR46, WRNIP1, XPO5, YIPF3, ZBED9-AS1, ZBTB12, ZBTB22, ZBTB9, ZFAND3, ZSCAN12, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF311, ZNF318, ZNF322, ZNF391, ZNF76, ZSCAN16, ZSCAN16-AS1, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, AARS2, ABCC10, ABCF1, ABHD16A, ABT1, ACOT13, ADTRP, AGER, AGPAT1, AIF1, ALDH5A1, ANKRD66, ANKS1A, APOBEC2, APOM, ARMC12, ARMH2, ATAT1, ATF6B, BLOC1S5-TXNDC5, ATP6V1G2, ATP6V1G2-DDX39B, ATXN1, ATXN1-AS1, B3GALT4, BAG6, BAK1, BICRAL, BLOC1S5, BLTP3A, BMP6, BNIP5, BPHL, BRD2, BRPF3, BRPF3-AS1, BTBD9, BTBD9-AS1, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, BYSL, C2, C2-AS1, C4A, C4B, C6orf132, C6orf136, C6orf15, C6orf201, C6orf226, C6orf47, C6orf52, C6orf62, C6orf89, CAGE1, CAP2, CAPN11, CARMIL1, CASC15, CCDC167, CCHCR1, CCND3, CD83, CDC5L, CDKAL1, CDKN1A, CDSN, CDYL, CDYL-AS1, CFB, CIMIP3, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CMTR1, CNPY3, CNPY3-GNMT, COL11A2, CPNE5, CRIP3, CSNK2B, CUL7, CUL9, CUTA, CYP21A2, LOC129996227, LOC129996228, LOC129996229, LOC129996230, LOC129996231, LOC129996232, LOC129996233, LOC129996234, LOC129996235, LOC129996236, LOC129996237, LOC129996238, LOC129996239, LOC129996240, LOC129996241, LOC129996242, LOC129996243, LOC129996244, LOC129996245, LOC129996246, LOC129996247, LOC129996248, LOC129996249, LOC129996250, LOC129996251, LOC129996252, LOC129996253, LOC129996254, LOC129996255, LOC129996256, LOC129996257, LOC129996258, LOC129996259, LOC129996260, LOC129996261, LOC129996262, LOC129996263, LOC129996264, LOC129996265, LOC129996266, LOC129996267, LOC129996268, LOC129996269, LOC129996270, LOC129996271, LOC129996272, LOC129996273, LOC129996274, LOC129996275, LOC129996276, LOC129996277, LOC129996278, LOC129996279, LOC129996280, LOC129996281, LOC129996282, LOC129996283, LOC129996284, LOC129996285, LOC129996286, LOC129996287, LOC129996288, LOC129996289, LOC129996290, LOC129996291, LOC129996292, LOC129996293, LOC129996294, LOC129996295, LOC129996296, LOC129996297, LOC129996298, LOC129996299, LOC129996300, LOC129996301, LOC129996302, LOC129996303, LOC129996304, LOC129996305, LOC129996306, LOC129996307, LOC129996308, LOC129996309, LOC129996310, LOC129996311, LOC129996312, LOC129996313, LOC129996314, LOC129996315, LOC129996316, LOC129996317, LOC129996318, LOC129996319, LOC129996320, LOC129996321, LOC129996322, LOC129996323, LOC129996324, LOC129996325, LOC129996326, LOC129996327, LOC129996328, LOC129996329, LOC129996330, LOC129996331, LOC129996332, LOC129996333, LOC129996334, LOC129996335, LOC129996336, LOC129996337, LOC129996338, LOC129996339, LOC129996340, LOC129996341, LOC129996342, LOC129996343, LOC129996344, LOC129996345, LOC129996346, LOC129996347, LOC129996348, LOC129996349, LOC129996350, LOC129996351, LOC129996352, LOC129996353, LOC129996354, LOC129996355, LOC129996356, LOC129996357, LOC129996358, LOC129996359, LOC129996360, LOC129996361, LOC129996362, LOC129996363, LOC129996364, LOC129996365, LOC129996366, LOC129996367, LOC129996368, LOC129996369, LOC129996370, LOC129996371, LOC129996372, LOC129996373, LOC129996374, LOC129996375, LOC129996376, LOC129996377, LOC129996378, LOC129996379, LOC129996380, LOC129996381, LOC129996382, LOC129996383, LOC129996384, LOC129996385, LOC129996386, LOC129996387, LOC129996388, LOC129996389, LOC129996390, LOC129996391, LOC129996392, LOC129996393, LOC129996394, LOC129996395, LOC129996396, LOC129996397, LOC129996398, LOC129996399, LOC129996400, LOC129996401, LOC129996402, LOC129996403, LOC129996404, LOC129996405, LOC129996406, LOC129996407, LOC129996408, LOC129996409, LOC129996410, LOC129996411, LOC129996412, LOC129996413, LOC129996414, LOC129996415, LOC129996416, LOC129996417, LOC129996418, LOC129996419, LOC129996420, LOC129996421, LOC129996422, LOC129996423, LOC129996424, LOC129996425, LOC129996426, LOC129996427, LOC129996428, LOC129996429, LOC129996430, LOC129996431, LOC129996432, LOC129996433, LOC129996434, LOC129996435, LOC129996436, LOC129996437, LOC129996438, LOC129996439, LOC129996440, LOC129996441, LOC129996442, LOC129996443, LOC129996444, LOC129996445, LOC129996446, LOC129996447, LOC129996448, LOC129996449, LOC129996450, LOC129996451, LOC129996452, LOC129996453, LOC129996454, LOC129996455, LOC129996456, LOC129996457, LOC129996458, LOC129996459, LOC129996460, LOC129996461, LOC129996462, LOC129996463, LOC129996464, LOC129996465, LOC129996466, LOC129996467, LOC129996468, LOC129996469, LOC129996470, LOC129996471, LOC129996472, LOC129996473, LOC129996474, LOC129996475, LOC129996476, LOC129996477, LOC129996478, LOC129996479, LOC129996480, LOC129996481, LOC129996482, LOC129996483, LOC129996484, LOC129996485, LOC129996486, LOC129996487, LOC129996488, LOC129996489, LOC129996490, LOC129996491, LOC129996492, LOC129996493, LOC129996494, LOC129996495, LOC129996496, LOC129996497, LOC129996498, LOC129996499, LOC129996500, LOC129996501, LOC129996502, LOC129996503, LOC129996504, LOC129996505, LOC129996506, LOC129996507, LOC129996508, LOC129996509, LOC129996510, LOC129996511, LOC129996512, LOC129996513, LOC129996514, LOC129996515, LOC129996516, LOC129996517, LOC129996518, LOC129996519, LOC129996520, LOC129996521, LOC129996522, LOC129996523, LOC129996524, LOC129996525, LOC129996526, LOC129996527, LOC129996528, LOC129996529, 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LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC126859681, LOC126859682, LOC127903862, LOC128462396, LOC128462417, LOC128635605, LOC128772275, LOC128772276, LOC128772277, LOC128772278, LOC128772279, LOC128772280, LOC128772281, LOC128772282, LOC128772283, LOC128772284, LOC128772285, LOC128772286, LOC128772287, LOC128772288, LOC128772289, LOC128772290, LOC128772291, LOC128772292, LOC128772293, LOC128772294, LOC128772295, LOC128781586, LOC128781587, LOC128781588, LOC129389423, LOC129389424, LOC129389425, LOC129389426, LOC129389427, LOC129389428, LOC129389429, LOC129389430, LOC129389431, LOC129389432, LOC129389433, LOC129389434, LOC129389435, LOC129389436, LOC129389437, LOC129389438, LOC129389439, LOC129389440, LOC129389441, LOC129389442, LOC129389443, LOC129389444, LOC129389445, LOC129389446, LOC129389447, LOC129389448, LOC129389449, LOC129389450, LOC129389451, LOC129389452, LOC129389453, LOC129389454, LOC129389455, LOC129389456, LOC129389457, LOC129389458, 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LOC129995591, LOC129995592, LOC129995593, LOC129995594, LOC129995595, LOC129995596, LOC129995597, LOC129995598, LOC129995599, LOC129995600, LOC129995601, LOC129995602, LOC129995603, LOC129995604, LOC129995605, LOC129995606, LOC129995607, LOC129995608, LOC129995609, LOC129995610, LOC129995611, LOC129995612, LOC129995613, LOC129995614, LOC129995615, LOC129995616, LOC129995617, LOC129995618, LOC129995619, LOC129995620, LOC129995621, LOC129995622, LOC129995623, LOC129995624, LOC129995625, LOC129995626, LOC129995627, LOC129995628, LOC129995629, LOC129995630, LOC129995631, LOC129995632, LOC129995633, LOC129995634, LOC129995635, LOC129995636, LOC129995637, LOC129995638, LOC129995639, LOC129995640, LOC129995641, LOC129995642, LOC129995643, LOC129995644, LOC129995645, LOC129995646, LOC129995647, LOC129995648, LOC129995649, LOC129995650, LOC129995651, LOC129995652, LOC129995653, LOC129995654, LOC129995655, LOC129995656, LOC129995657, LOC129995658, LOC129995659, LOC129995660, LOC129995661, LOC129995662, LOC129995663, LOC129995664, LOC129995665, LOC129995666, LOC129995667, LOC129995668, LOC129995669, LOC129995670, LOC129995671, LOC129995672, LOC129995673, LOC129995674, LOC129995675, LOC129995676, LOC129995677, LOC129995678, LOC129995679, LOC129995680, LOC129995681, LOC129995682, LOC129995683, LOC129995684, LOC129995685, LOC129995686, LOC129995687, LOC129995688, LOC129995689, LOC129995690, LOC129995691, LOC129995692, LOC129995693, LOC129995694, LOC129995695, LOC129995696, LOC129995697, LOC129995698, LOC129995699, LOC129995700, LOC129995701, LOC129995702, LOC129995703, LOC129995704, LOC129995705, LOC129995706, LOC129995707, LOC129995708, LOC129995709, LOC129995710, LOC129995711, LOC129995712, LOC129995713, LOC129995714
See casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
2.
GRCh37:
Chr6:37745145-45621580
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:
Chr6:43484532
GRCh38:
Chr6:43516794
LOC129996517, POLR1C, YIPF3A5Vnot providedLikely benign
(Jul 14, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr6:43484594
GRCh38:
Chr6:43516856
POLR1C, YIPF3, LOC129996517not providedLikely benign
(Jul 6, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr6:43484594
GRCh38:
Chr6:43516856
YIPF3, POLR1C, LOC129996517not providedLikely benign
(Jul 14, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr6:43484616
GRCh38:
Chr6:43516878
YIPF3, LOC129996517, POLR1Cnot providedLikely benign
(Jul 6, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr6:43484643
GRCh38:
Chr6:43516905
LOC129996517, POLR1C, YIPF3not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr6:43484723-43484724
GRCh38:
Chr6:43516985-43516986
LOC129996517, POLR1Cnot providedLikely benign
(Oct 2, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr6:43484785
GRCh38:
Chr6:43517047
LOC129996517, POLR1CTreacher Collins Syndrome, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr6:43484827
GRCh38:
Chr6:43517089
LOC129996517, POLR1CTreacher Collins syndrome 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr6:43484833
GRCh38:
Chr6:43517095
LOC129996517, POLR1Cnot provided, Treacher Collins syndrome 3Benign/Likely benign
(Feb 4, 2019)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr6:43484840
GRCh38:
Chr6:43517102
LOC129996517, POLR1CTreacher Collins syndrome 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr6:43484844
GRCh38:
Chr6:43517106
LOC129996517, POLR1Cnot specified, not provided, Treacher Collins syndrome 3
Conflicting interpretations of pathogenicity
(Oct 1, 2023)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr6:43484855
GRCh38:
Chr6:43517117
LOC129996517, POLR1CA3Vnot providedLikely benign
(Nov 3, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr6:43484856
GRCh38:
Chr6:43517118
LOC129996517, POLR1Cnot providedLikely benign
(Jun 13, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr6:43484870
GRCh38:
Chr6:43517132
LOC129996517, POLR1CE8Gnot providedLikely benign
(Oct 18, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr6:43484879
GRCh38:
Chr6:43517141
LOC129996517, POLR1CR11QHypomyelinating leukodystrophy 11Uncertain significancecriteria provided, single submitter
20.
GRCh37:
Chr6:43484881
GRCh38:
Chr6:43517143
LOC129996517, POLR1CS12GTreacher Collins syndrome 3Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr6:43484883
GRCh38:
Chr6:43517145
LOC129996517, POLR1Cnot providedLikely benign
(Jul 18, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr6:43484884
GRCh38:
Chr6:43517146
LOC129996517, POLR1CR13Cnot providedUncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr6:43484886
GRCh38:
Chr6:43517148
LOC129996517, POLR1Cnot providedLikely benign
(Jun 5, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr6:43484912
GRCh38:
Chr6:43517174
LOC129996517, POLR1CR22HHypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, Inborn genetic diseases,
not provided
Uncertain significance
(Jan 10, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr6:43484915
GRCh38:
Chr6:43517177
LOC129996517, POLR1CN23Snot provided, Treacher Collins Syndrome, RecessiveUncertain significance
(Nov 11, 2021)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr6:43484917
GRCh38:
Chr6:43517179
LOC129996517, POLR1CHypomyelinating leukodystrophy 11Pathogeniccriteria provided, single submitter
27.
GRCh37:
Chr6:43484921
GRCh38:
Chr6:43517183
LOC129996517, POLR1Cnot providedUncertain significance
(Jun 6, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:43485032
GRCh38:
Chr6:43517294
POLR1Cnot providedLikely benign
(Aug 5, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr6:43485037
GRCh38:
Chr6:43517299
POLR1CTreacher Collins syndrome 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr6:43485038
GRCh38:
Chr6:43517300
POLR1Cnot providedLikely benign
(Feb 17, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr6:43485043
GRCh38:
Chr6:43517305
POLR1Cnot provided, Hypomyelinating leukodystrophy 11Pathogenic
(May 5, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr6:43485044
GRCh38:
Chr6:43517306
POLR1CV24ITreacher Collins syndrome 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr6:43485051
GRCh38:
Chr6:43517313
POLR1CT26IHypomyelinating leukodystrophy 11Pathogeniccriteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr6:43485053
GRCh38:
Chr6:43517315
POLR1CT27Anot specified, Hypomyelinating leukodystrophy 11Conflicting interpretations of pathogenicity
(Jul 24, 2015)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr6:43485059
GRCh38:
Chr6:43517321
POLR1CG31fsTreacher Collins syndrome 3Pathogenic
(Jan 1, 2011)
no assertion criteria provided
36.
GRCh37:
Chr6:43485062
GRCh38:
Chr6:43517324
POLR1CP30AHypomyelinating leukodystrophy 11, not providedUncertain significance
(Jul 14, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr6:43485062
GRCh38:
Chr6:43517324
POLR1CP30SHypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11
Conflicting interpretations of pathogenicity
(Oct 4, 2022)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr6:43485064
GRCh38:
Chr6:43517326
POLR1Cnot providedLikely benign
(Dec 2, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr6:43485065
GRCh38:
Chr6:43517327
POLR1CG31Snot providedUncertain significance
(Apr 30, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr6:43485069
GRCh38:
Chr6:43517331
POLR1CN32IHypomyelinating leukodystrophy 11Pathogeniccriteria provided, single submitter
41.
GRCh37:
Chr6:43485072
GRCh38:
Chr6:43517334
POLR1CY33Cnot provided, Hypomyelinating leukodystrophy 11Uncertain significance
(Sep 5, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr6:43485084
GRCh38:
Chr6:43517346
POLR1CD37GHypomyelinating leukodystrophy 11Uncertain significance
(Dec 3, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr6:43485089
GRCh38:
Chr6:43517351
POLR1CA39TInborn genetic diseasesUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr6:43485090
GRCh38:
Chr6:43517352
POLR1CA39VHypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, not provided
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr6:43485112
GRCh38:
Chr6:43517374
POLR1CTreacher Collins Syndrome, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr6:43485283
GRCh38:
Chr6:43517545
POLR1Cnot providedBenign
(Jul 9, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr6:43487077
GRCh38:
Chr6:43519339
POLR1CR50Cnot providedUncertain significance
(Dec 16, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr6:43487078
GRCh38:
Chr6:43519340
POLR1CR50Lnot providedUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:43487093
GRCh38:
Chr6:43519355
POLR1CH55Rnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr6:43487095
GRCh38:
Chr6:43519357
POLR1CM56Vnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr6:43487106
GRCh38:
Chr6:43519368
POLR1CN59Knot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr6:43487108
GRCh38:
Chr6:43519370
POLR1CS60LInborn genetic diseasesUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr6:43487109
GRCh38:
Chr6:43519371
POLR1Cnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr6:43487122
GRCh38:
Chr6:43519384
POLR1CM65Vnot specified, POLR1C-Related Disorders, Hypomyelinating leukodystrophy 11,
not provided, Hearing impairment
Conflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr6:43487132
GRCh38:
Chr6:43519394
POLR1CI68TInborn genetic diseases, not providedUncertain significance
(Mar 24, 2023)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr6:43487133
GRCh38:
Chr6:43519395
POLR1Cnot providedLikely benign
(Aug 2, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr6:43487134
GRCh38:
Chr6:43519396
POLR1CD69YHypomyelinating leukodystrophy 11Likely pathogeniccriteria provided, single submitter
58.
GRCh37:
Chr6:43487142
GRCh38:
Chr6:43519404
POLR1Cnot providedLikely benign
(Sep 12, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr6:43487150
GRCh38:
Chr6:43519412
POLR1CN74Snot provided, Hypomyelinating leukodystrophy 11Conflicting interpretations of pathogenicity
(Sep 12, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr6:43487158
GRCh38:
Chr6:43519420
POLR1CR77*Treacher Collins syndrome 3, not providedConflicting interpretations of pathogenicity
(Jun 29, 2020)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr6:43487161
GRCh38:
Chr6:43519423
POLR1CR78*not provided, Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11
Pathogenic/Likely pathogenic
(Oct 16, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr6:43487181
GRCh38:
Chr6:43519443
POLR1Cnot provided, Inborn genetic diseasesUncertain significance
(May 5, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr6:43487363
GRCh38:
Chr6:43519625
POLR1Cnot providedBenign
(Jul 9, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr6:43487435
GRCh38:
Chr6:43519697
POLR1Cnot providedLikely benign
(Oct 24, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr6:43487446
GRCh38:
Chr6:43519708
POLR1Cnot providedLikely benign
(Apr 17, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr6:43487475
GRCh38:
Chr6:43519737
POLR1CV94AHypomyelinating leukodystrophy 11Pathogeniccriteria provided, single submitter
67.
GRCh37:
Chr6:43487481
GRCh38:
Chr6:43519743
POLR1CN96Snot providedUncertain significance
(May 3, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr6:43487487
GRCh38:
Chr6:43519749
POLR1CT98Inot providedUncertain significance
(Jul 14, 2023)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr6:43487507
GRCh38:
Chr6:43519769
POLR1CI105FHypomyelinating leukodystrophy 11Pathogeniccriteria provided, single submitter
70.
GRCh37:
Chr6:43487516
GRCh38:
Chr6:43519778
POLR1CH108YHypomyelinating leukodystrophy 11, not providedConflicting interpretations of pathogenicity
(Jan 21, 2022)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr6:43487519
GRCh38:
Chr6:43519781
POLR1CR109SHypomyelinating leukodystrophy 11Uncertain significancecriteria provided, single submitter
72.
GRCh37:
Chr6:43487519
GRCh38:
Chr6:43519781
POLR1CR109CHypomyelinating leukodystrophy 11, Treacher Collins syndrome 3Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr6:43487520
GRCh38:
Chr6:43519782
POLR1CR109HPOLR1C-Related Disorders, Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
Pathogenic/Likely pathogenic
(Sep 27, 2023)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr6:43487529
GRCh38:
Chr6:43519791
POLR1CL112Pnot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr6:43487543
GRCh38:
Chr6:43519805
POLR1CA117PHypomyelinating leukodystrophy 11Pathogeniccriteria provided, single submitter
76.
GRCh37:
Chr6:43487552
GRCh38:
Chr6:43519814
POLR1CR120CInborn genetic diseases, not providedUncertain significance
(Feb 15, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr6:43487558
GRCh38:
Chr6:43519820
POLR1CF122IHypomyelinating leukodystrophy 11, Treacher Collins syndrome 3Likely pathogenic
(Mar 5, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr6:43487568
GRCh38:
Chr6:43519830
POLR1CR125QTreacher Collins syndrome 3, not providedUncertain significance
(Sep 15, 2021)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr6:43487767
GRCh38:
Chr6:43520029
POLR1Cnot providedLikely benign
(Jul 10, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr6:43487784
GRCh38:
Chr6:43520046
POLR1Cnot providedLikely benign
(Apr 18, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr6:43487808
GRCh38:
Chr6:43520070
POLR1Cnot providedLikely benign
(Sep 16, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:43487816
GRCh38:
Chr6:43520078
POLR1CG132DInborn genetic diseases, Hypomyelinating leukodystrophy 11, not provided,
Treacher Collins syndrome 3
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr6:43487821
GRCh38:
Chr6:43520083
POLR1CE134*not providedPathogenic
(May 25, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr6:43487835-43487836
GRCh38:
Chr6:43520097-43520098
POLR1CQ139fsnot providedPathogenic
(Jul 5, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:43487842
GRCh38:
Chr6:43520104
POLR1CR141CHypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, not provided
Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr6:43487857
GRCh38:
Chr6:43520119
POLR1CC146RHypomyelinating leukodystrophy 11Pathogeniccriteria provided, single submitter
87.
GRCh37:
Chr6:43487864
GRCh38:
Chr6:43520126
POLR1CR148QTreacher Collins syndrome 3, not providedUncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr6:43487873
GRCh38:
Chr6:43520135
POLR1CH151Lnot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr6:43487874-43487876
GRCh38:
Chr6:43520136-43520138
POLR1CA153delnot providedUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr6:43487881-43487882
GRCh38:
Chr6:43520143-43520144
POLR1CK154fsHypomyelinating leukodystrophy 11Pathogeniccriteria provided, single submitter
91.
GRCh37:
Chr6:43487891
GRCh38:
Chr6:43520153
POLR1CS157Cnot providedUncertain significance
(Oct 10, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr6:43487896
GRCh38:
Chr6:43520158
POLR1CP159Anot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:43487901
GRCh38:
Chr6:43520163
POLR1CTreacher Collins syndrome 3, not providedConflicting interpretations of pathogenicity
(Apr 7, 2022)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr6:43487902
GRCh38:
Chr6:43520164
POLR1CE161Knot providedUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr6:43487910
GRCh38:
Chr6:43520172
POLR1CTreacher Collins syndrome 3, not providedUncertain significance
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr6:43487911
GRCh38:
Chr6:43520173
POLR1CV164MTreacher Collins syndrome 3, not providedUncertain significance
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr6:43487923
GRCh38:
Chr6:43520185
POLR1CV168MHypomyelinating leukodystrophy 11Pathogeniccriteria provided, single submitter
98.
GRCh37:
Chr6:43487940
GRCh38:
Chr6:43520202
POLR1Cnot providedLikely benign
(Sep 5, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr6:43488006
GRCh38:
Chr6:43520268
POLR1Cnot providedLikely benign
(Sep 27, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr6:43488016
GRCh38:
Chr6:43520278
POLR1CY169CInborn genetic diseasesUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
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