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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:
Chr6:44953497-47954574
GRCh38:
Chr6:44985760-47986838
See casesLikely pathogenic
(Jan 24, 2011)
no assertion criteria provided
5.
GRCh37:
Chr6:44961189-46029602
GRCh38:
Chr6:44993452-46061865
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr6:45296144
GRCh38:
Chr6:45328407
LOC109611593, RUNX2, SUPT3HCleidocranial dysostosisBenign
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr6:45296339
GRCh38:
Chr6:45328602
LOC109611593, RUNX2, SUPT3Hnot providedLikely benign
(Mar 10, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr6:45296384
GRCh38:
Chr6:45328647
LOC109611593, RUNX2, SUPT3HCleidocranial dysostosisBenign
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr6:45296398
GRCh38:
Chr6:45328661
RUNX2, SUPT3Hnot providedLikely benign
(Apr 16, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr6:45296400
GRCh38:
Chr6:45328663
RUNX2, SUPT3HCleidocranial dysostosisBenign
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr6:45296424
GRCh38:
Chr6:45328687
RUNX2, SUPT3HCleidocranial dysostosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr6:45296453-45296455
GRCh38:
Chr6:45328716-45328718
RUNX2, SUPT3Hnot provided, Cleidocranial dysostosisBenign/Likely benign
(Aug 1, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr6:45296466
GRCh38:
Chr6:45328729
RUNX2, SUPT3HM1Inot providedPathogenic
(Jan 1, 2019)
criteria provided, single submitter
14.
GRCh37:
Chr6:45296477
GRCh38:
Chr6:45328740
RUNX2, SUPT3HS5Tnot providedUncertain significance
(Oct 15, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr6:45296491-45296492
GRCh38:
Chr6:45328754-45328755
RUNX2, SUPT3HT11fsCleidocranial dysostosisPathogenic
(May 23, 2020)
no assertion criteria provided
16.
GRCh37:
Chr6:45296506
GRCh38:
Chr6:45328769
RUNX2, SUPT3HQ15KInborn genetic diseasesUncertain significance
(Aug 14, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr6:45296517
GRCh38:
Chr6:45328780
RUNX2, SUPT3HCleidocranial dysostosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr6:45296528
GRCh38:
Chr6:45328791
RUNX2, SUPT3Hnot providedLikely benign
(Jul 1, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr6:45296530
GRCh38:
Chr6:45328793
RUNX2, SUPT3Hnot providedLikely benign
(Sep 9, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr6:45296618
GRCh38:
Chr6:45328881
RUNX2, SUPT3Hnot providedBenign
(Aug 9, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr6:45308920-45413885
GRCh38:
Chr6:45341183-45446148
LOC109611589, LOC129996578, RUNX2, SUPT3HMetaphyseal dysplasia-maxillary hypoplasia-brachydacty syndromePathogenic
(Feb 7, 2013)
no assertion criteria provided
22.
GRCh37:
Chr6:45339624
GRCh38:
Chr6:45371887
RUNX2, SUPT3Hnot providedUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr6:45389289
GRCh38:
Chr6:45421552
RUNX2not providedBenign
(Oct 31, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr6:45389658
GRCh38:
Chr6:45421921
RUNX2not providedBenign
(Nov 13, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr6:45389841
GRCh38:
Chr6:45422104
RUNX2not providedLikely benign
(Aug 30, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr6:45390088
GRCh38:
Chr6:45422351
RUNX2not providedLikely benign
(Oct 21, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr6:45390320
GRCh38:
Chr6:45422583
RUNX2I3Fnot providedLikely benign
(Sep 4, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:45390324
GRCh38:
Chr6:45422587
RUNX2P4Lnot providedUncertain significance
(Feb 5, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr6:45390345
GRCh38:
Chr6:45422608
RUNX2R25Q, R11Qnot providedUncertain significance
(Nov 23, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr6:45390348
GRCh38:
Chr6:45422611
RUNX2R26P, R12Pnot providedUncertain significance
(Oct 7, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr6:45390354-45390355
GRCh38:
Chr6:45422617-45422618
RUNX2S17fs, S31fsnot providedPathogenic
(Aug 7, 2023)
criteria provided, single submitter
32.
GRCh37:
Chr6:45390355
GRCh38:
Chr6:45422618
RUNX2S17fs, S31fsCleidocranial dysostosisLikely pathogenic
(Jul 11, 2019)
criteria provided, single submitter
33.
GRCh37:
Chr6:45390356
GRCh38:
Chr6:45422619
RUNX2P29T, P15Tnot providedUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr6:45390359
GRCh38:
Chr6:45422622
RUNX2P16A, P30Anot providedUncertain significance
(Aug 29, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr6:45390368
GRCh38:
Chr6:45422631
RUNX2S19C, S33Cnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr6:45390375
GRCh38:
Chr6:45422638
RUNX2Q21L, Q35Lnot providedUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:45390380
GRCh38:
Chr6:45422643
RUNX2G37C, G23Cnot providedUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:45390395
GRCh38:
Chr6:45422658
RUNX2V42L, V28LInborn genetic diseases, Cleidocranial dysostosis, not provided
Conflicting interpretations of pathogenicity
(Sep 14, 2022)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr6:45390408-45390409
GRCh38:
Chr6:45422671-45422672
RUNX2Q59fs, Q45fsnot providedPathogenic
(Feb 19, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr6:45390414-45390415
GRCh38:
Chr6:45422677-45422678
RUNX2not providedUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr6:45390415-45390426
GRCh38:
Chr6:45422678-45422689
LOC109611589, RUNX2not providedUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr6:45390415-45390441
GRCh38:
Chr6:45422678-45422704
LOC109611589, RUNX2not specifiedLikely benign
(Mar 28, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr6:45390418-45390419
GRCh38:
Chr6:45422681-45422682
LOC109611589, RUNX2not provided, Cleidocranial dysostosisUncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr6:45390419-45390433
GRCh38:
Chr6:45422682-45422696
LOC109611589, RUNX2not providedUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr6:45390422
GRCh38:
Chr6:45422685
LOC109611589, RUNX2Q51K, Q37Knot specified, not providedConflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr6:45390424
GRCh38:
Chr6:45422687
LOC109611589, RUNX2not providedLikely benign
(Apr 5, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr6:45390430
GRCh38:
Chr6:45422693
LOC109611589, RUNX2not providedLikely benign
(Oct 9, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr6:45390430-45390431
GRCh38:
Chr6:45422693-45422694
LOC109611589, RUNX2not providedUncertain significance
(Jul 3, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:45390430-45390431
GRCh38:
Chr6:45422693-45422694
LOC109611589, RUNX2not providedUncertain significance
(Oct 16, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr6:45390431-45390451
GRCh38:
Chr6:45422694-45422714
LOC109611589, RUNX2not specified, not providedConflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr6:45390433-45390434
GRCh38:
Chr6:45422696-45422697
LOC109611589, RUNX2not providedConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr6:45390434
GRCh38:
Chr6:45422697
LOC109611589, RUNX2Q55*, Q41*not providedPathogenic
(Aug 21, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr6:45390440-45390445
GRCh38:
Chr6:45422703-45422708
RUNX2, LOC109611589not providedUncertain significance
(Sep 3, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr6:45390442-45390496
GRCh38:
Chr6:45422705-45422759
LOC109611589, RUNX2Q44fs, Q58fsCleidocranial dysostosisLikely pathogenic
(Mar 31, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr6:45390445-45390446
GRCh38:
Chr6:45422708-45422709
LOC109611589, RUNX2not providedUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr6:45390445-45390446
GRCh38:
Chr6:45422708-45422709
LOC109611589, RUNX2not providedConflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr6:45390445
GRCh38:
Chr6:45422708
LOC109611589, RUNX2not providedLikely benign
(Oct 9, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr6:45390445-45390446
GRCh38:
Chr6:45422708-45422709
LOC109611589, RUNX2not providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr6:45390446-45390469
GRCh38:
Chr6:45422709-45422732
LOC109611589, RUNX2not providedUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr6:45390447
GRCh38:
Chr6:45422710
LOC109611589, RUNX2Q45R, Q59RCleidocranial dysostosis, not providedConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr6:45390448
GRCh38:
Chr6:45422711
LOC109611589, RUNX2not providedLikely benign
(Jan 10, 2020)
criteria provided, single submitter
62.
GRCh37:
Chr6:45390451-45390452
GRCh38:
Chr6:45422714-45422715
LOC109611589, RUNX2not providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr6:45390455
GRCh38:
Chr6:45422718
LOC109611589, RUNX2Q62*, Q48*not providedPathogenic
(Oct 27, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr6:45390458
GRCh38:
Chr6:45422721
LOC109611589, RUNX2Q49*, Q63*not providedPathogenic
(Jan 26, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr6:45390460-45390474
GRCh38:
Chr6:45422723-45422737
LOC109611589, RUNX2E72fs, E58fsCleidocranial dysostosisPathogenic
(May 30, 1997)
no assertion criteria provided
66.
GRCh37:
Chr6:45390461
GRCh38:
Chr6:45422724
LOC109611589, RUNX2Q50*, Q64*not providedPathogenic
(Mar 12, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr6:45390462
GRCh38:
Chr6:45422725
RUNX2, LOC109611589Q50R, Q64Rnot providedUncertain significance
(Jan 4, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr6:45390464-45390502
GRCh38:
Chr6:45422727-45422765
LOC109611589, RUNX2not providedUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr6:45390466-45390467
GRCh38:
Chr6:45422729-45422730
LOC109611589, RUNX2not providedUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr6:45390466
GRCh38:
Chr6:45422729
LOC109611589, RUNX2not specified, not providedLikely benign
(Jan 10, 2020)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr6:45390470-45390471
GRCh38:
Chr6:45422733-45422734
LOC109611589, RUNX2Q53fs, Q67fsnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr6:45390471-45390472
GRCh38:
Chr6:45422734-45422735
LOC109611589, RUNX2E58fs, E72fsnot providedPathogenic
(Apr 12, 2019)
criteria provided, single submitter
73.
GRCh37:
Chr6:45390472
GRCh38:
Chr6:45422735
LOC109611589, RUNX2not specifiedLikely benign
(Apr 9, 2019)
criteria provided, single submitter
74.
GRCh37:
Chr6:45390474
GRCh38:
Chr6:45422737
LOC109611589, RUNX2Q54fs, Q68fsCleidocranial dysostosisLikely pathogenic
(May 23, 2020)
no assertion criteria provided
75.
GRCh37:
Chr6:45390481
GRCh38:
Chr6:45422744
LOC109611589, RUNX2not providedLikely benign
(Oct 28, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr6:45390482
GRCh38:
Chr6:45422745
LOC109611589, RUNX2Q57*, Q71*not provided, Cleidocranial dysostosisLikely pathogenic
(Apr 8, 2021)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr6:45390486-45390487
GRCh38:
Chr6:45422749-45422750
LOC109611589, RUNX2not providedUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr6:45390486-45390487
GRCh38:
Chr6:45422749-45422750
LOC109611589, RUNX2not providedUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr6:45390486-45390487
GRCh38:
Chr6:45422749-45422750
LOC109611589, RUNX2not providedUncertain significance
(Oct 14, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr6:45390487-45390488
GRCh38:
Chr6:45422750-45422751
RUNX2, LOC109611589not providedUncertain significance
(Oct 30, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr6:45390487-45390507
GRCh38:
Chr6:45422750-45422770
LOC109611589, RUNX2not providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:45390487
GRCh38:
Chr6:45422750
LOC109611589, RUNX2E72D, E58Dnot providedUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr6:45390487-45390489
GRCh38:
Chr6:45422750-45422752
LOC109611589, RUNX2A75del, A89delnot providedUncertain significance
(Nov 22, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr6:45390487-45390488
GRCh38:
Chr6:45422750-45422751
LOC109611589, RUNX2not providedUncertain significance
(Dec 19, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr6:45390487
GRCh38:
Chr6:45422750
LOC109611589, RUNX2A59fs, A73fsMetaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, Cleidocranial dysostosisConflicting interpretations of pathogenicity
(Mar 5, 2018)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr6:45390514-45390531
GRCh38:
Chr6:45422750-45422767
LOC109611589, RUNX2not provided, not specified, Cleidocranial dysostosis
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr6:45390490
GRCh38:
Chr6:45422753
LOC109611589, RUNX2not providedLikely benign
(Jan 21, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:45390490
GRCh38:
Chr6:45422753
LOC109611589, RUNX2not providedLikely benign
(Nov 22, 2019)
criteria provided, single submitter
89.
GRCh37:
Chr6:45390490-45390491
GRCh38:
Chr6:45422753-45422754
LOC109611589, RUNX2Cleidocranial dysplasia 1, forme fruste, with brachydactylyPathogenic
(May 30, 1997)
no assertion criteria provided
90.
GRCh37:
Chr6:45390492
GRCh38:
Chr6:45422755
RUNX2, LOC109611589A60E, A74Enot providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:45390493-45390494
GRCh38:
Chr6:45422756-45422757
LOC109611589, RUNX2not providedUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:45390493
GRCh38:
Chr6:45422756
LOC109611589, RUNX2not providedLikely benign
(Jan 21, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:45390493-45390494
GRCh38:
Chr6:45422756-45422757
LOC109611589, RUNX2not providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr6:45390493
GRCh38:
Chr6:45422756
LOC109611589, RUNX2not providedLikely benign
(Jun 9, 2020)
criteria provided, single submitter
95.
GRCh37:
Chr6:45390496
GRCh38:
Chr6:45422759
LOC109611589, RUNX2not providedLikely benign
(Jan 21, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr6:45390497-45390502
GRCh38:
Chr6:45422760-45422765
LOC109611589, RUNX2not providedUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr6:45390499
GRCh38:
Chr6:45422762
LOC109611589, RUNX2not providedLikely benign
(Jan 21, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr6:45390502
GRCh38:
Chr6:45422765
LOC109611589, RUNX2not providedLikely benign
(Jan 21, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr6:45390502-45390503
GRCh38:
Chr6:45422765-45422766
LOC109611589, RUNX2not providedUncertain significance
(Jan 12, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr6:45390503-45390511
GRCh38:
Chr6:45422766-45422774
LOC109611589, RUNX2not providedUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
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