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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:282465-133773393
GRCh38:
Chr12:121271-133196807
LOC126861603, LOC126861604, LOC126861605, LOC126861606, LOC126861607, LOC126861608, LOC126861609, LOC126861610, LOC126861611, LOC126861612, LOC126861613, LOC126861614, LOC126861615, LOC126861616, LOC126861617, LOC126861618, LOC126861619, LOC126861620, LOC126861621, LOC126861622, LOC126861623, LOC126861624, LOC126861625, LOC126861626, LOC126861627, LOC126861628, LOC126861629, LOC126861630, LOC126861631, LOC126861632, LOC126861633, LOC126861634, LOC126861635, LOC126861636, LOC126861637, LOC126861638, LOC126861639, LOC126861640, LOC126861641, LOC126861642, LOC126861643, LOC126861644, LOC126861645, LOC126861646, LOC126861647, LOC126861648, LOC126861649, LOC126861650, LOC126861651, LOC126861652, LOC126861653, LOC126861654, LOC126861655, LOC126861656, LOC126861657, LOC126861658, LOC126861659, LOC126861660, LOC126861661, LOC126861662, LOC126861663, LOC126861664, LOC126861665, LOC126861666, LOC126861667, LOC126861668, LOC126861669, LOC126861670, LOC126861671, LOC126861672, LOC126861673, LOC126861674, LOC126861675, LOC126861676, LOC126861677, LOC126861678, LOC126861679, LOC126861680, LOC126861681, LOC126861682, LOC126861683, LOC126861684, LOC126861685, LOC126861686, LOC126861687, LOC126861688, LOC126861689, LOC126861690, LOC126861691, LOC126861692, LOC126861693, LOC126861694, LOC126861695, LOC126861696, LOC126861697, LOC126861698, LOC126861699, LOC126861700, LOC126861701, LOC126861702, LOC128071547, LOC128125814, LOC128125816, LOC128706664, LOC128732306, LOC128772374, LOC128772375, LOC128772376, LOC128772377, LOC128772378, LOC128772379, LOC128772380, LOC128772381, LOC128772382, LOC128772383, LOC128772384, LOC128772385, LOC128772386, LOC128772387, LOC128781585, LOC283387, LOC414300, LOC440084, LOC574538, LOC642846, LOC643339, LOC645177, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRCOL1, LRIG3, LRIG3-DT, LRP1, LRP1-AS, LRP6, LRRC10, LRRC23, LRRC43, LRRIQ1, LRRK2, LRTM2, LTA4H, LTBR, LUM, LYZ, M6PR, MAGOHB, MANSC1, MANSC4, MAP1LC3B2, MAP3K12, MAPKAPK5, MAPKAPK5-AS1, MARCHF9, MARS1, MBD6, MCRS1, MDM1, MDM2, MED13L, MED21, METAP2, METTL1, METTL25, MFAP5, MFSD5, MGAT4C, MGP, MGST1, MIP, MIR10527, MIR1178, MIR1228, MIR1244-3, MIR1244-4, MIR1251, MIR1252, MIR1279, MIR1291, MIR1293, MIR1302-1, MIR135A2, MIR141, MIR148B, MIR1827, MIR196A2, MIR200C, MIR200CHG, MIR26A2, MIR3059, MIR3198-2, MIR331, MIR3612, MIR3649, MIR3652, MIR3657, MIR3685, MIR3908, MIR3913-1, MIR3913-2, MIR3922, MIR3974, MIR4302, MIR4303, MIR4304, MIR4419B, MIR4472-2, MIR4494, MIR4495, MIR4496, MIR4497, MIR4498, MIR4698, MIR4699, MIR4700, MIR4701, MIR492, MIR5188, MIR548C, MIR548Z, MIR5700, MIR6074, MIR6125, MIR613, MIR614, MIR615, MIR616, MIR617, MIR618, MIR619, MIR620, MIR6502, MIR6505, MIR6757, MIR6758, MIR6759, MIR6760, MIR6761, MIR6762, MIR6763, MIR6861, MIR6880, MIR7106, MIR7107, MIR7844, MIR7851, MIR8072, MIR920, MIR9898, MIR9902-1, MIR9902-2, MIRLET7I, MIRLET7IHG, MLEC, MLF2, MLXIP, MMAB, MMP17, MMP19, MON2, MORN3, MPHOSPH9, MRPL42, MRPL51, MRPS35, MSI1, MSRB3, MSRB3-AS1, MTERF2, MTRFR, MUC19, MUC8, MUCL1, MVK, MYBPC1, MYF5, MYF6, MYG1, MYL2, MYL6, MYL6B, MYO1A, MYO1H, MYRFL, NAA25, NAB2, NABP2, NACA, NANOG, NANOGNB, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCKAP5L, NCOR2, NDUFA12, NDUFA4L2, NDUFA9, NECAP1, NEDD1, NELL2, NEMP1, NEUROD4, NFE2, NFYB, NINJ2, NINJ2-AS1, NOC4L, NOP2, NOPCHAP1, NOS1, NPFF, NR1H4, NR2C1, NR4A1, NR4A1AS, NRAV, NRIP2, NT5DC3, NTF3, NTN4, NTS, NUAK1, NUDT4, NUP107, NUP37, NXPH4, OAS1, OAS2, OAS3, OASL, OGFOD2, OLR1, OR10A7, OR10AD1, OR10P1, OR2AP1, OR5BS1P, OR6C1, OR6C2, OR6C3, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C74, OR6C75, OR6C76, OR8S1, OR9K2, ORAI1, ORI6, ORMDL2, OS9, OSBPL8, OTOGL, OVCH1, OVCH1-AS1, P2RX2, P2RX4, P2RX7, P3H3, PA2G4, PAH, PAN2, PARP11, PARP11-AS1, PARPBP, PAWR, PCBP2, PCBP2-OT1, PCED1B, PCED1B-AS1, PDE1B, PDE3A, PDE6H, PDZRN4, PEBP1, PEX5, PFDN5, PFKM, PGAM5, PHB2, PHC1, PHETA1, PHLDA1, PIANP, PIK3C2G, PIP4K2C, PITPNM2, PITPNM2-AS1, PIWIL1, PKP2, PLA2G1B, PLBD1, PLBD1-AS1, PLBD2, PLCZ1, PLEKHA5, PLEKHG6, PLEKHG7, PLXNC1, PMCH, PMEL, POC1B, POC1B-AS1, POC1B-GALNT4, POLE, POLR3B, POP5, POU6F1, PPFIA2, PPFIA2-AS1, PPFIBP1, PPHLN1, PPM1H, PPP1CC, PPP1R12A, PPP1R12A-AS1, PPP1R12A-AS2, PPP1R1A, PPTC7, PRANCR, PRB1, PRB2, PRB3, PRB4, PRDM4, PRDM4-AS1, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRICKLE1, PRIM1, PRKAB1, PRKAG1, PRMT8, PRPF40B, PRPH, PRR13, PRR4, PSMD9, PTGES3, PTHLH, PTMS, PTPN11, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PUS1, PUS7L, PWP1, PXMP2, PXN, PXN-AS1, PYM1, PYROXD1, PZP, R3HDM2, RAB21, RAB35, RAB35-AS1, RAB3IP, RAB5B, RACGAP1, RAD51AP1, RAD52, RAD9B, RAN, RAP1B, RAPGEF3, RARG, RASAL1, RASSF3, RASSF3-DT, RASSF8, RASSF8-AS1, RASSF9, RBM19, RBMS2, RBP5, RDH16, RDH5, RECQL, REP15, RERG, RERG-AS1, RERGL, RESF1, RFC5, RFLNA, RFX4, RHEBL1, RHNO1, RHOF, RIC8B, RILPL1, RILPL2, RIMBP2, RIMKLB, RITA1, RLIG1, RMST, RND1, RNF10, RNF34, RNF41, RNFT2, RNU4-1, RNU4-2, RNU7-1, RPAP3, RPAP3-DT, RPH3A, RPL41, LOC113939936, LOC113939937, LOC114803470, LOC114803471, LOC114827850, LOC114827856, LOC114827860, LOC114827865, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC116268436, LOC116268437, LOC116268438, LOC116268439, LOC116268440, LOC116268441, LOC116268442, LOC116268443, LOC116268444, LOC116268445, LOC116268446, LOC116268447, LOC116268448, LOC116268449, LOC116268450, LOC116268451, LOC116268452, LOC116268453, LOC117038775, LOC117038776, LOC117038778, LOC117038779, LOC117038780, LOC117038781, LOC117038782, LOC120766155, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121466693, LOC121466694, LOC121466695, LOC121466696, LOC121466697, LOC121466698, LOC121466699, LOC121466700, LOC121466701, LOC121466702, LOC121466703, LOC121466704, LOC121466705, LOC121466706, LOC121466707, LOC121466708, LOC121466709, LOC121466710, LOC121466711, LOC121466712, LOC121466713, LOC121466714, LOC121466715, LOC121466716, LOC121466717, LOC121466718, LOC121466719, LOC121466720, LOC121466721, LOC121466722, LOC121466723, LOC121466724, LOC121466725, LOC121466726, LOC121466727, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC121832829, LOC121832830, LOC121832831, LOC121832832, LOC121832833, LOC121832834, LOC121832835, LOC121832836, LOC121832837, LOC121832838, LOC121832839, LOC121832840, LOC121832841, LOC121832842, LOC121832843, LOC121838556, LOC121838557, LOC121838558, LOC121838559, LOC121838560, LOC121838561, LOC121838562, LOC121838563, LOC121838564, LOC121838565, LOC121838566, LOC121838567, LOC121838568, LOC121838569, LOC121838570, LOC121838571, LOC122455340, LOC124625876, LOC124625877, LOC124625878, LOC124625879, LOC124625880, LOC124625881, LOC124625882, LOC124625883, LOC124625884, LOC124625885, LOC124625886, LOC124625887, LOC124625889, LOC124625890, LOC124625892, LOC124625893, LOC124625895, LOC124625896, LOC124625897, LOC124625898, LOC124625899, LOC124625900, LOC124625901, LOC124625902, LOC124625903, LOC124625904, LOC124625905, LOC124625906, LOC124625907, LOC124625908, LOC124625909, LOC124625910, LOC124625911, LOC124625912, LOC124625913, LOC124625914, LOC124625915, LOC124625916, LOC124625917, LOC124625918, LOC124625919, LOC124625920, LOC124625921, LOC124629325, LOC124629326, LOC124629327, LOC124629329, LOC124629330, LOC124629331, LOC124629332, LOC124629333, LOC124629334, LOC124629336, LOC124629337, LOC124629338, LOC124629339, LOC124629340, LOC124629342, LOC124629343, LOC124629344, LOC124629345, LOC124629346, LOC124629347, LOC124629348, LOC124629349, LOC124629350, LOC124629351, LOC124629352, LOC124629353, LOC124629354, LOC124629355, LOC124629356, LOC124629357, LOC124629358, LOC124629360, LOC124629361, LOC124629362, LOC124629363, LOC124629364, LOC124629365, LOC124629366, LOC124629367, LOC124629368, LOC124629369, LOC124629370, LOC124629372, LOC124629373, LOC124629374, LOC124629375, LOC124629376, LOC124629377, LOC124629378, LOC124629379, LOC124629386, LOC124629388, LOC124629389, LOC124629390, LOC124629391, LOC124629392, LOC124629393, LOC124629394, LOC124629395, LOC124629399, LOC124629400, LOC124629401, LOC124629403, LOC124629404, LOC124629407, LOC124629408, LOC124629409, LOC124629410, LOC124629411, LOC124629412, LOC124629413, LOC124629414, LOC124629415, LOC124629416, LOC124629417, LOC124629418, LOC124629419, LOC124629420, LOC124629421, LOC124629422, LOC124629423, LOC124629424, LOC124629425, LOC124629426, LOC124646378, LOC124646379, LOC124646380, LOC124646381, LOC124646382, LOC124646383, LOC124646384, LOC124646385, LOC124646387, LOC124646388, LOC124646389, LOC124646390, LOC124646391, LOC124646392, LOC124646393, LOC124646394, LOC124646395, LOC124819387, LOC124819388, LOC124819389, LOC124819390, LOC124819391, LOC124819392, LOC124819393, LOC124819394, LOC124819395, LOC124819396, LOC124819397, LOC124819398, LOC124819399, LOC124819400, LOC124819401, LOC124819402, LOC124819403, LOC124819404, LOC124819405, LOC124819406, LOC124819407, LOC124819408, LOC124819409, LOC124819410, LOC124849250, LOC124849251, LOC124849252, LOC124849254, LOC124849259, LOC124849260, LOC124849261, LOC124849262, LOC124849266, LOC124849267, LOC124849268, LOC124849269, LOC124849270, LOC124849271, LOC124849272, LOC124849273, LOC124849274, LOC124849275, LOC124849277, LOC124849278, LOC124849279, LOC124849280, LOC124849281, LOC124849282, LOC124849283, LOC124849284, LOC124849286, LOC124849287, LOC124849288, LOC124849289, LOC124849290, LOC124849291, LOC126861410, LOC126861411, LOC126861412, LOC126861413, LOC126861414, LOC126861415, LOC126861416, LOC126861417, LOC126861418, LOC126861419, LOC126861420, LOC126861421, LOC126861422, LOC126861423, LOC126861424, LOC126861425, LOC126861426, LOC126861427, LOC126861428, LOC126861429, LOC126861430, LOC126861431, LOC126861432, LOC126861433, LOC126861434, LOC126861435, LOC126861436, LOC126861437, LOC126861438, LOC126861439, LOC126861440, LOC126861441, LOC126861442, LOC126861443, LOC126861444, LOC126861445, LOC126861446, LOC126861447, LOC126861448, LOC126861449, LOC126861450, LOC126861451, LOC126861452, LOC126861453, LOC126861454, LOC126861455, LOC126861456, LOC126861457, LOC126861458, LOC126861459, LOC126861460, LOC126861461, LOC126861462, LOC126861463, LOC126861464, LOC126861465, LOC126861466, LOC126861467, LOC126861468, LOC126861469, LOC126861470, LOC126861471, LOC126861472, LOC126861473, LOC126861474, LOC126861475, LOC126861476, LOC126861477, LOC126861478, LOC126861479, LOC126861480, LOC126861481, LOC126861482, LOC126861483, LOC126861484, LOC126861485, LOC126861486, LOC126861487, LOC126861488, LOC126861489, LOC126861490, LOC126861491, LOC126861492, LOC126861493, LOC126861494, LOC126861495, LOC126861496, LOC126861497, LOC126861498, LOC126861499, LOC126861500, LOC126861501, LOC126861502, LOC126861503, LOC126861504, LOC126861505, LOC126861506, LOC126861507, LOC126861508, LOC126861509, LOC126861510, LOC126861511, LOC126861512, LOC126861513, LOC126861514, LOC126861515, LOC126861516, LOC126861517, LOC126861518, LOC126861519, LOC126861520, LOC126861521, LOC126861522, LOC126861523, LOC126861524, LOC126861525, LOC126861526, LOC126861527, LOC126861528, LOC126861529, LOC126861530, LOC126861531, LOC126861532, LOC126861533, LOC126861534, LOC126861535, LOC126861536, LOC126861537, LOC126861538, LOC126861539, LOC126861540, LOC126861541, LOC126861542, LOC126861543, LOC126861544, LOC126861545, LOC126861546, LOC126861547, LOC126861548, LOC126861549, LOC126861550, LOC126861551, LOC126861552, LOC126861553, LOC126861554, LOC126861555, LOC126861556, LOC126861557, LOC126861558, LOC126861559, LOC126861560, LOC126861561, LOC126861562, LOC126861563, LOC126861564, LOC126861565, LOC126861566, LOC126861567, LOC126861568, LOC126861569, LOC126861570, LOC126861571, LOC126861572, LOC126861573, LOC126861574, LOC126861575, LOC126861576, LOC126861577, LOC126861578, LOC126861579, LOC126861580, LOC126861581, LOC126861582, LOC126861583, LOC126861584, LOC126861585, LOC126861586, LOC126861587, LOC126861588, LOC126861589, LOC126861590, LOC126861591, LOC126861592, LOC126861593, LOC126861594, LOC126861595, LOC126861596, LOC126861597, LOC126861598, LOC126861599, LOC126861600, LOC126861601, LOC126861602, FAR2, FBRSL1, FBXL14, FBXO21, FBXW8, FGD4, FGD6, FGF23, FGF6, FGFR1OP2, FICD, FIGNL2, FIGNL2-DT, FKBP11, FKBP4, FLJ12825, FLJ13224, FMNL3, FOXJ2, FOXM1, FOXN4, FRA12A, FRS2, FZD10, FZD10-AS1, GABARAPL1, GABARAPL1-AS1, GALNT4, GALNT6, GALNT8, GALNT9, GALNT9-AS1, GAPDH, GARIN6, GAS2L3, GATC, GAU1, GCN1, GDF11, GDF3, GIHCG, GIT2, GLI1, GLIPR1, GLIPR1-AS1, GLIPR1L1, GLIPR1L2, GLS2, GLT1D1, GLT8D2, GLTP, GNB3, GNPTAB, GNS, GOLGA3, GOLT1B, GPD1, GPN3, GPR162, GPR182, GPR19, GPR84, GPR84-AS1, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GRIP1, GSG1, GTF2H3, GTSF1, GUCY2C, GXYLT1, GYS2, H1-7, H2AJ, H3-5, H4C16, HAL, HCAR1, HCAR2, HCAR3, HCFC2, HDAC7, HEBP1, HECTD4, HELB, HIGD1C, HIP1R, HMGA2, HMGA2-AS1, HNF1A, HNF1A-AS1, HNRNPA1, HOTAIR, HOXC-AS1, HOXC-AS2, HOXC-AS3, HOXC10, HOXC11, HOXC12, HOXC13, HOXC13-AS, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HPD, HRK, HSD17B6, HSP90B1, HSPB8, HVCN1, IAPP, IFFO1, IFNG, IFNG-AS1, IFT81, IGF1, IGFBP6, IKBIP, IKZF4, IL22, IL23A, IL26, IL31, ING4, INHBC, INHBE, INTS13, IPO8, IQCD, IQSEC3, IQSEC3-AS1, IRAG2, IRAK3, IRAK4, ISCU, ITFG2, ITFG2-AS1, ITGA5, ITGA7, ITGB7, ITPR2, KANSL2, KCNA1, KCNA5, KCNA6, KCNC2, KCNH3, KCNJ8, KCNMB4, KCTD10, KDM2B, KDM2B-DT, KDM5A, KERA, KICS2, KIF21A, KIF5A, KITLG, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KMT2D, KMT5A, KNTC1, KRAS, KRR1, KRT1, KRT18, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT7-AS, KRT71, KRT72, KRT73, KRT73-AS1, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, KSR2, LACRT, LAG3, LALBA, LARP4, LDHB, LEMD3, LETMD1, LGR5, LHX5, LHX5-AS1, LIMA1, LIN7A, LINC00173, LINC00477, LINC00485, LINC00507, LINC00508, LINC00592, LINC00612, LINC00615, LINC00934, LINC00937, LINC00938, LINC00939, LINC00940, LINC00941, LINC00942, LINC00943, LINC00944, LINC00987, LINC01089, LINC01234, LINC01252, LINC01257, LINC01404, LINC01405, LINC01465, LINC01479, LINC01486, LINC01489, LINC01490, LINC01498, LINC01559, LINC01619, LINC02156, LINC02231, LINC02258, LINC02347, LINC02350, LINC02356, LINC02359, LINC02361, LINC02366, LINC02367, LINC02368, LINC02369, LINC02370, LINC02372, LINC02373, LINC02375, LINC02376, LINC02378, LINC02381, LINC02384, LINC02385, LINC02386, LINC02387, LINC02388, LINC02389, LINC02392, LINC02393, LINC02394, LINC02395, LINC02396, LINC02397, LINC02398, LINC02399, LINC02400, LINC02401, LINC02402, LINC02403, LINC02404, LINC02405, LINC02406, LINC02408, LINC02409, LINC02410, LINC02411, LINC02412, LINC02413, LINC02414, LINC02415, LINC02416, LINC02417, LINC02418, LINC02419, LINC02420, LINC02421, LINC02422, LINC02423, LINC02424, LINC02425, LINC02426, LINC02439, LINC02440, LINC02441, LINC02442, LINC02443, LINC02444, LINC02445, LINC02446, LINC02448, LINC02449, LINC02450, LINC02451, LINC02453, LINC02454, LINC02455, LINC02456, LINC02458, LINC02459, LINC02460, LINC02461, LINC02464, LINC02468, LINC02470, LINC02471, LINC02555, LINC02598, LINC02617, LINC02820, LINC02823, LINC02824, LINC02825, LINC02826, LINC02827, LINC02874, LINC02882, LINC02909, LINC02955, LINC02972, LINC02985, LLPH, LLPH-DT, LMBR1L, LMNTD1, LMO3, LNCOG, LOC100128253, LOC100128276, LOC100130268, LOC100240734, LOC100240735, LOC100287944, LOC100505978, LOC100506551, LOC100506606, LOC100506869, LOC100507250, LOC100507424, LOC100652999, LOC100996671, LOC101593348, LOC101927583, LOC101928002, LOC101928030, LOC101928416, LOC101928441, LOC101928937, LOC102723544, LOC102724020, LOC102724421, LOC105369187, LOC105369595, LOC105369632, LOC105369728, LOC105369747, LOC105369781, LOC105369879, LOC105369911, LOC105369945, LOC105370024, LOC105370068, LOC106007490, LOC106007491, LOC106096416, LOC106783497, LOC106799839, LOC107105350, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108228199, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108281184, LOC108720144, LOC108720145, LOC108942766, LOC109280163, LOC109280164, LOC109280165, LOC109286556, LOC109461484, LOC110120854, LOC110120878, LOC110120899, LOC110120906, LOC110120907, LOC110120908, LOC110120918, LOC110120934, LOC110120948, LOC110120954, LOC110120955, LOC110120956, LOC110120957, LOC110121322, LOC110121323, LOC110121349, LOC110121363, LOC110121374, LOC110121381, LOC110121389, LOC110121401, LOC110121402, LOC110121403, LOC110121408, LOC110121425, LOC110121435, LOC110121456, LOC110121480, LOC110121489, LOC110599568, LOC111258525, LOC111258526, LOC111365152, LOC111365179, LOC111365214, LOC111413045, LOC111429608, LOC111429617, LOC111465008, LOC111501774, LOC111501779, LOC111556143, LOC111556155, LOC111776216, LOC112136100, LOC112136101, LOC112136102, LOC112136103, LOC112136104, LOC112136105, LOC112136106, LOC112136107, LOC112136108, LOC112136111, LOC112136112, LOC112163525, LOC112163526, LOC112163527, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163543, LOC112163544, LOC112163545, LOC112163546, LOC112163547, LOC112163548, LOC112163549, LOC112163550, LOC112163551, LOC112163552, LOC112163594, LOC112163595, LOC112163596, LOC112163597, LOC112163598, LOC112163600, LOC112163601, LOC112163602, LOC112163604, LOC112163605, LOC112163606, LOC112163607, LOC112163608, LOC112163609, LOC112163612, LOC112163613, LOC112163615, LOC112163617, LOC112163618, LOC112163619, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163628, LOC112163629, LOC112163630, LOC112163631, LOC112163632, LOC112163633, LOC112163634, LOC112163635, LOC112163636, LOC113939930, LOC113939931, LOC113939932, LOC113939933, LOC113939934, LOC113939935, A2M, A2M-AS1, A2ML1, AAAS, AACS, ABCB9, ABCC9, ABCD2, ABTB3, ACACB, ACAD10, ACADS, ACRBP, ACSM4, ACSS3, ACTR6, ACVR1B, ACVRL1, ADAMTS20, ADCY6, ADCY6-DT, ADGRD1, ADGRD1-AS1, ADIPOR2, AEBP2, AGAP2, AGAP2-AS1, AICDA, AKAP3, ALDH1L2, ALDH2, ALG10, ALG10B, ALKBH2, ALX1, AMDHD1, AMHR2, AMIGO2, AMN1, ANAPC5, ANAPC7, ANKLE2, ANKRD13A, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, ANO6, ANP32D, APAF1, APOBEC1, APOF, APOLD1, APPL2, AQP2, AQP5, AQP5-AS1, AQP6, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ARID2, ARL1, ARL6IP4, ARPC3, ART4, ASB8, ASCL1, ASCL4, ASIC1, ATF1, ATF7, ATF7-NPFF, ATF7IP, ATG101, ATN1, ATP23, ATP2A2, ATP2B1, ATP2B1-AS1, ATP5F1B, ATP5MC2, ATP6V0A2, ATXN2, ATXN2-AS, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT1, B4GALNT3, BAZ2A, BBS10, BCAT1, BCDIN3D, BCDIN3D-AS1, BCL2L14, BCL7A, BEST3, BHLHE41, BICD1, BICDL1, BIN2, BLOC1S1, BLOC1S1-RDH5, BLTP3B, BMAL2, BMAL2-AS1, BORCS5, BRAP, BRI3BP, BTG1, BTG1-DT, C12orf4, C12orf40, C12orf42, C12orf42-AS1, C12orf43, C12orf50, C12orf54, C12orf56, C12orf57, C12orf60, C12orf71, C12orf74, C12orf75, C12orf75-AS1, C12orf76, C1QL4, C1R, C1RL, C1RL-AS1, C1S, C2CD5, C3AR1, CABP1, CABP1-DT, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CACNB3, CALCOCO1, CAMKK2, CAND1, CAPRIN2, CAPS2, CAPZA3, CASC18, CBX5, CCDC184, CCDC38, CCDC59, CCDC60, CCDC62, CCDC63, CCDC65, CCDC77, CCDC91, CCDC92, CCER1, CCND2, CCND2-AS1, CCNT1, CCT2, CD163, CD163L1, CD27, CD27-AS1, CD4, CD63, CD63-AS1, CD69, CD9, CDCA3, CDK17, CDK2, CDK2AP1, CDK4, CDKN1B, CELA1, CEP290, CEP83, CEP83-DT, CERS5, CFAP251, CFAP54, CFAP73, CHD4, CHFR, CHFR-DT, CHPT1, CHST11, CISTR, CIT, CKAP4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLIP1, CLIP1-AS1, CLLU1, CLLU1-AS1, CLSTN3, CMAS, CMKLR1, CNOT2, CNPY2, CNTN1, COL2A1, COPS7A, COPZ1, COQ10A, COQ5, CORO1C, COX14, COX6A1, CPM, CPNE8, CPSF6, CRACR2A, CRADD, CRADD-AS1, CREBL2, CRY1, CS, CSAD, CSRNP2, CSRP2, CTDSP2, CUX2, CYP27B1, DAO, DAZAP2, DBX2, DCD, DCN, DCP1B, DCTN2, DDIT3, DDN, DDN-AS1, DDX11, DDX11-AS1, DDX23, DDX47, DDX51, DDX54, DDX55, DENND5B, DENND5B-AS1, DENR, DEPDC4, DERA, DGKA, DHH, DHX37, DIABLO, DIP2B, DNAH10, DNAI7, DNAJC14, DNAJC22, DNM1L, DPPA3, DPY19L2, DRAM1, DTX1, DTX3, DUSP16, DUSP6, DYNLL1, DYRK2, DYRK4, E2F7, EEA1, EEF1AKMT3, EID3, EIF2B1, EIF2S3B, EIF4B, ELK3, EMG1, EMP1, ENDOU, ENO2, EP400, EPS8, EPYC, ERBB3, ERC1, ERGIC2, ERP27, ERP29, ESPL1, ESYT1, ETFBKMT, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAIM2, FAM186A, FAM186B, FAM216A, FAM222A, FAM222A-AS1, FAM234B, FAM242C, FAM66C, FAM90A1, RPL6, RPLP0, RPS26, RSRC2, RXYLT1, RXYLT1-AS1, SARNP, SART3, SBNO1, SBNO1-AS1, SCAF11, SCARB1, SCARNA10, SCARNA11, SCARNA12, SCAT2, SCN8A, SCNN1A, SCYL2, SDR9C7, SDS, SDSL, SELPLG, SENP1, SETD1B, SFSWAP, SH2B3, SHMT2, SINHCAF, SIRT4, SLC11A2, SLC15A4, SLC15A5, SLC16A7, SLC17A8, SLC25A3, SLC2A13, SLC2A14, SLC2A3, SLC35E3, SLC38A1, SLC38A2, SLC38A2-AS1, SLC38A4, SLC38A4-AS1, SLC39A5, SLC41A2, SLC48A1, SLC4A8, SLC5A8, SLC6A12, SLC6A12-AS1, SLC6A13, SLC6A15, SLC8B1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMAGP, SMARCC2, SMARCD1, SMCO2, SMCO3, SMIM10L1, SMIM41, SMUG1, SNORA105C, SNORA113, SNORA120, SNORA2A, SNORA2B, SNORA2C, SNORA49, SNORA53, SNORA70G, SNORA9B, SNORD133, SNORD59A, SNORD59B, SNRNP35, SNRPF, SNRPF-DT, SOAT2, SOCS2, SOCS2-AS1, SOX5, SOX5-AS1, SP1, SP7, SPATS2, SPIC, SPPL3, SPRING1, SPRYD3, SPRYD4, SPSB2, SPX, SRGAP1, SRRM4, SRSF9, SSH1, SSPN, ST8SIA1, STAB2, STAC3, STAT2, STAT6, STK38L, STRAP, STX2, STYK1, SUDS3, SUOX, SVOP, SYCP3, SYT1, SYT10, TAC3, TAFA2, TAMALIN, TAMALIN-AS1, TAOK3, TAPBPL, TARBP2, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TBC1D15, TBC1D30, TBK1, TBX3, TBX3-AS1, TBX5, TBX5-AS1, TCHP, TCP11L2, TCTN1, TCTN2, TDG, TEAD4, TESC, TESC-AS1, TESPA1, TEX49, TEX52, TFCP2, THAP2, THCAT155, THRIL, TIGAR, TIMELESS, TM7SF3, TMBIM4, TMBIM6, TMCC3, TMDD1, TMED2, TMED2-DT, TMEM106C, TMEM116, TMEM117, TMEM119, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TMEM19, TMEM233, TMEM263, TMEM52B, TMPO, TMPO-AS1, TMPRSS12, TMT1A, TMT1B, TMTC1, TMTC2, TMTC3, TNFRSF1A, TNS2, TNS2-AS1, TPCN1, TPH2, TPI1, TRA-TGC3-2, TRA-TGC4-1, TRAFD1, TRD-GTC1-1, TRD-GTC2-10, TRD-GTC2-8, TRD-GTC2-9, TRF-GAA1-4, TRHDE, TRHDE-AS1, TRIAP1, TROAP, TROAP-AS1, TRPV4, TRS-CGA4-1, TRW-CCA4-1, TSFM, TSPAN11, TSPAN19, TSPAN31, TSPAN8, TSPAN9, TUBA1A, TUBA1B, TUBA1B-AS1, TUBA1C, TULP3, TWF1, TXNRD1, UBC, UBE2N, UBE3B, ULK1, UNC119B, UNG, UQCC6, USP15, USP30, USP30-AS1, USP44, USP5, UTP20, VAMP1, VDR, VEZT, VPS29, VPS33A, VPS37B, VSIG10, VWF, WASHC3, WASHC4, WBP11, WIF1, WNK1, WNT1, WNT10B, WNT5B, WSB2, WSCD2, XLOC_009911, XPOT, YAF2, YARS2, YBX3, YEATS4, ZBTB39, ZC3H10, ZCCHC8, ZCRB1, ZDHHC17, ZFC3H1, ZNF10, ZNF140, ZNF26, ZNF268, ZNF384, ZNF385A, ZNF605, ZNF641, ZNF664, ZNF664-RFLNA, ZNF705A, ZNF740, ZNF84, ZNF84-DT, ZNF891
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
2.
GRCh37:
Chr12:49413581
GRCh38:
Chr12:49019798
KMT2DKabuki syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr12:49414520
GRCh38:
Chr12:49020737
KMT2DKabuki syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr12:49415267
GRCh38:
Chr12:49021484
KMT2DKabuki syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr12:49415578
GRCh38:
Chr12:49021795
KMT2Dnot specified, Kabuki syndrome, not provided,
Kabuki syndrome 1
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr12:49415584
GRCh38:
Chr12:49021801
KMT2DKabuki syndromeLikely benign
(Jul 19, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr12:49415588
GRCh38:
Chr12:49021805
KMT2DW5530*Inborn genetic diseasesUncertain significance
(Aug 7, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr12:49415605
GRCh38:
Chr12:49021822
KMT2DKabuki syndromeLikely benign
(Jul 26, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr12:49415611
GRCh38:
Chr12:49021828
KMT2DKabuki syndromeLikely benign
(Sep 17, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr12:49415623
GRCh38:
Chr12:49021840
KMT2DKabuki syndromeLikely benign
(Jul 28, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr12:49415624
GRCh38:
Chr12:49021841
KMT2DD5518GKabuki syndromeUncertain significance
(Aug 17, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr12:49415648
GRCh38:
Chr12:49021865
KMT2DY5510CNeurodevelopmental disorderUncertain significance
(Apr 14, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr12:49415650
GRCh38:
Chr12:49021867
KMT2DKabuki syndromeLikely benign
(Apr 10, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr12:49415656
GRCh38:
Chr12:49021873
KMT2Dnot providedPathogenic
(May 1, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr12:49415657
GRCh38:
Chr12:49021874
KMT2DKabuki syndromePathogenic
(Sep 2, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr12:49415657-49415660
GRCh38:
Chr12:49021874-49021877
KMT2DKabuki syndrome 1Pathogenic
(Aug 12, 2020)
criteria provided, single submitter
17.
GRCh37:
Chr12:49415659
GRCh38:
Chr12:49021876
KMT2DKabuki syndromeLikely benign
(Sep 13, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr12:49415659
GRCh38:
Chr12:49021876
KMT2DKabuki syndrome, not providedConflicting interpretations of pathogenicity
(Aug 19, 2022)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr12:49415665
GRCh38:
Chr12:49021882
KMT2DKabuki syndromeLikely benign
(Feb 8, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr12:49415666
GRCh38:
Chr12:49021883
KMT2DKabuki syndromeLikely benign
(Oct 10, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr12:49415718
GRCh38:
Chr12:49021935
KMT2Dnot providedLikely benign
(Sep 26, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr12:49415815
GRCh38:
Chr12:49022032
KMT2DKabuki syndromeLikely benign
(Feb 23, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr12:49415817-49415818
GRCh38:
Chr12:49022034-49022035
KMT2DKabuki syndromeLikely benign
(Apr 23, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr12:49415819
GRCh38:
Chr12:49022036
KMT2DKabuki syndrome, not providedLikely benign
(Dec 1, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr12:49415825
GRCh38:
Chr12:49022042
KMT2Dnot providednot providedno assertion provided
26.
GRCh37:
Chr12:49415826
GRCh38:
Chr12:49022043
KMT2DE5507Dnot providedUncertain significance
(Jun 26, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr12:49415832
GRCh38:
Chr12:49022049
KMT2DKabuki syndromeUncertain significance
(Oct 8, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr12:49415841
GRCh38:
Chr12:49022058
KMT2DKabuki syndromeLikely benign
(Jan 14, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr12:49415846
GRCh38:
Chr12:49022063
KMT2DR5501*Kabuki syndrome, not providedPathogenic
(Feb 4, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr12:49415847
GRCh38:
Chr12:49022064
KMT2DR5501fsnot providedLikely pathogenic
(Sep 16, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr12:49415849
GRCh38:
Chr12:49022066
KMT2DR5500Wnot providedUncertain significance
(Oct 27, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr12:49415856-49415858
GRCh38:
Chr12:49022073-49022075
KMT2DI5497delKabuki syndrome 1Conflicting interpretations of pathogenicity
(Oct 29, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr12:49415860
GRCh38:
Chr12:49022077
KMT2DI5496Snot providedUncertain significance
(Jan 6, 2014)
criteria provided, single submitter
34.
GRCh37:
Chr12:49415875-49415878
GRCh38:
Chr12:49022092-49022095
KMT2DK5490fsnot providedPathogenic
(Jan 8, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr12:49415877-49415878
GRCh38:
Chr12:49022094-49022095
KMT2DK5490fsKabuki syndrome 1, SeizurePathogenic
(Jan 3, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr12:49415877
GRCh38:
Chr12:49022094
KMT2DE5491fsKabuki syndrome 1Likely pathogenic
(Nov 1, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr12:49415880
GRCh38:
Chr12:49022097
KMT2DD5489EKabuki syndromeUncertain significance
(Sep 9, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr12:49415883
GRCh38:
Chr12:49022100
KMT2DF5488Lnot providedUncertain significance
(Apr 16, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr12:49415898
GRCh38:
Chr12:49022115
KMT2DKabuki syndrome, not providedLikely benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:49415901-49415902
GRCh38:
Chr12:49022118-49022119
KMT2DV5482fsKabuki syndromePathogenic
(Dec 5, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr12:49415902
GRCh38:
Chr12:49022119
KMT2DV5482EAutism spectrum disorderLikely benign
(Apr 13, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr12:49415905
GRCh38:
Chr12:49022122
KMT2DC5481YKabuki syndrome, not providedPathogenic/Likely pathogenic
(Oct 14, 2021)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr12:49415906-49415909
GRCh38:
Chr12:49022123-49022126
KMT2DKabuki syndrome 1, Kabuki syndrome, not provided
Pathogenic
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr12:49415907
GRCh38:
Chr12:49022124
KMT2DKabuki syndromeLikely benign
(Dec 29, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr12:49415910
GRCh38:
Chr12:49022127
KMT2DN5480fsKabuki syndrome 1Pathogenic
(Nov 1, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr12:49415934
GRCh38:
Chr12:49022151
KMT2DR5471SKabuki syndrome 1Likely pathogenic
(Dec 10, 2014)
criteria provided, single submitter
47.
GRCh37:
Chr12:49415935
GRCh38:
Chr12:49022152
KMT2DKabuki syndrome 1Likely pathogenic
(Feb 4, 2015)
no assertion criteria provided
48.
GRCh37:
Chr12:49415945
GRCh38:
Chr12:49022162
KMT2DKabuki syndromeLikely benign
(Jul 19, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr12:49416031
GRCh38:
Chr12:49022248
KMT2Dnot providedBenign
(Aug 11, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr12:49416047-49416061
GRCh38:
Chr12:49022264-49022278
KMT2DKabuki syndrome 1Likely pathogenic
(May 4, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr12:49416047
GRCh38:
Chr12:49022264
KMT2DKabuki syndrome, not specified, not provided,
Kabuki syndrome 1
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr12:49416050
GRCh38:
Chr12:49022267
KMT2DKabuki syndrome 1Uncertain significance
(Oct 10, 2013)
criteria provided, single submitter
53.
GRCh37:
Chr12:49416051
GRCh38:
Chr12:49022268
KMT2DKabuki syndromeLikely benign
(Jun 14, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr12:49416058
GRCh38:
Chr12:49022275
KMT2DKabuki syndrome 1Likely pathogenic
(Feb 26, 2015)
no assertion criteria provided
55.
GRCh37:
Chr12:49416062
GRCh38:
Chr12:49022279
KMT2Dnot providedPathogenic
(Jun 3, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr12:49416063
GRCh38:
Chr12:49022280
KMT2DR5471KInborn genetic diseases, not providedLikely pathogenic
(Jul 21, 2020)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr12:49416064
GRCh38:
Chr12:49022281
KMT2DR5471WKabuki syndrome 1Likely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
58.
GRCh37:
Chr12:49416074
GRCh38:
Chr12:49022291
KMT2DKabuki syndromeLikely benign
(Mar 18, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr12:49416083-49416084
GRCh38:
Chr12:49022300-49022301
KMT2DL5465fsnot providedPathogenic
(Oct 16, 2020)
criteria provided, single submitter
60.
GRCh37:
Chr12:49416084
GRCh38:
Chr12:49022301
KMT2DT5464Mnot providedUncertain significance
(Mar 18, 2014)
criteria provided, single submitter
61.
GRCh37:
Chr12:49416095
GRCh38:
Chr12:49022312
KMT2DKabuki syndromeLikely benign
(Jul 17, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr12:49416115
GRCh38:
Chr12:49022332
KMT2DR5454*Inborn genetic diseases, not provided, Kabuki syndrome 1
Pathogenic
(Oct 12, 2020)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr12:49416133
GRCh38:
Chr12:49022350
KMT2DR5448*Kabuki syndrome, Kabuki syndrome 1Pathogenic/Likely pathogenic
(Dec 18, 2021)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr12:49416137
GRCh38:
Chr12:49022354
KMT2DKabuki syndromeLikely pathogenic
(Aug 12, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr12:49416138
GRCh38:
Chr12:49022355
KMT2DKabuki syndromeLikely pathogenic
(Aug 10, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr12:49416149
GRCh38:
Chr12:49022366
KMT2DKabuki syndromeLikely benign
(Jun 3, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr12:49416156-49416158
GRCh38:
Chr12:49022373-49022375
KMT2DKabuki syndromeBenign
(Jul 16, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr12:49416358
GRCh38:
Chr12:49022575
KMT2DKabuki syndromeLikely benign
(Apr 10, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr12:49416368
GRCh38:
Chr12:49022585
KMT2DKabuki syndromeUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr12:49416371
GRCh38:
Chr12:49022588
KMT2DKabuki syndromeLikely pathogenic
(Oct 30, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr12:49416372
GRCh38:
Chr12:49022589
KMT2DKabuki syndromeLikely pathogenic
(Oct 23, 2019)
criteria provided, single submitter
72.
GRCh37:
Chr12:49416372
GRCh38:
Chr12:49022589
KMT2DKabuki syndrome 1Likely pathogenic
(Nov 1, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr12:49416374-49416375
GRCh38:
Chr12:49022591-49022592
KMT2DQ5446fsInborn genetic diseasesPathogenic
(Jul 22, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr12:49416382
GRCh38:
Chr12:49022599
KMT2DKabuki syndromeBenign
(Sep 12, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr12:49416389-49416405
GRCh38:
Chr12:49022606-49022622
KMT2DA5436fsnot providedPathogenic
(Sep 11, 2013)
criteria provided, single submitter
76.
GRCh37:
Chr12:49416390
GRCh38:
Chr12:49022607
KMT2DK5441Enot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr12:49416397
GRCh38:
Chr12:49022614
KMT2DKabuki syndromeBenign
(Jul 19, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr12:49416401
GRCh38:
Chr12:49022618
KMT2DN5437Snot providedUncertain significance
(Aug 1, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr12:49416412
GRCh38:
Chr12:49022629
KMT2DKabuki syndrome, not providedConflicting interpretations of pathogenicity
(Jun 27, 2022)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr12:49416416
GRCh38:
Chr12:49022633
KMT2DR5432LKabuki syndromeLikely pathogenic
(Aug 19, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr12:49416416
GRCh38:
Chr12:49022633
KMT2DR5432Qnot provided, Kabuki syndrome 1Conflicting interpretations of pathogenicity
(Nov 1, 2016)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr12:49416417
GRCh38:
Chr12:49022634
KMT2DR5432Wnot provided, Kabuki syndrome 1Pathogenic
(Jan 13, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr12:49416436
GRCh38:
Chr12:49022653
KMT2DKabuki syndromeLikely benign
(Jul 17, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr12:49416438
GRCh38:
Chr12:49022655
KMT2DE5425Knot provided, Inborn genetic diseasesPathogenic
(Dec 20, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr12:49416439
GRCh38:
Chr12:49022656
KMT2DKabuki syndromeBenign
(Sep 27, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr12:49416444
GRCh38:
Chr12:49022661
KMT2DV5423Fnot providedUncertain significance
(Oct 31, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr12:49416447
GRCh38:
Chr12:49022664
KMT2DM5422VKabuki syndromeUncertain significance
(Oct 21, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr12:49416460
GRCh38:
Chr12:49022677
KMT2DKabuki syndromeLikely benign
(Aug 9, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr12:49416462
GRCh38:
Chr12:49022679
KMT2Dnot specified, not provided, Kabuki syndrome
Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr12:49416489-49416502
GRCh38:
Chr12:49022706-49022719
KMT2DS5404fsnot providedPathogenic
(Sep 10, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr12:49416493
GRCh38:
Chr12:49022710
KMT2DKabuki syndromeLikely benign
(Mar 12, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr12:49416497
GRCh38:
Chr12:49022714
KMT2DR5405Hnot provided, Kabuki syndromeLikely benign
(Dec 1, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr12:49416499
GRCh38:
Chr12:49022716
KMT2DKabuki syndromeBenign
(Sep 13, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr12:49416500
GRCh38:
Chr12:49022717
KMT2DS5404CKabuki syndrome 1Uncertain significance
(Nov 1, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr12:49416514
GRCh38:
Chr12:49022731
KMT2DKabuki syndrome, not specifiedBenign/Likely benign
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr12:49416517
GRCh38:
Chr12:49022734
KMT2Dnot provided, Kabuki syndromeLikely benign
(Nov 3, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr12:49416527
GRCh38:
Chr12:49022744
KMT2DW5395*not providedPathogenic
(Feb 28, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr12:49416532
GRCh38:
Chr12:49022749
KMT2DKabuki syndromeLikely benign
(Sep 27, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr12:49416536
GRCh38:
Chr12:49022753
KMT2DR5392HKabuki syndromeUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr12:49416537
GRCh38:
Chr12:49022754
KMT2DR5392CKabuki syndromeUncertain significance
(Jul 23, 2022)
criteria provided, single submitter
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