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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:
Chr12:114706208-133777902
GRCh38:
Chr12:114268403-133201316
ZNF268, ZNF605, ZNF664, ZNF664-RFLNA, ZNF84, ZNF84-DT, ZNF891, AACS, ABCB9, ACADS, ADGRD1, ADGRD1-AS1, ANAPC5, ANKLE2, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BICDL1, BRI3BP, C12orf43, CABP1, CABP1-DT, CAMKK2, CCDC60, CCDC62, CCDC92, CDK2AP1, CFAP251, CHFR, CHFR-DT, CIT, CLIP1, CLIP1-AS1, COQ5, COX6A1, DDX51, DDX55, DENR, DHX37, DIABLO, DNAH10, DYNLL1, EIF2B1, EP400, FBRSL1, FBXO21, FBXW8, FZD10, FZD10-AS1, GALNT9, GALNT9-AS1, GATC, GCN1, GLT1D1, GOLGA3, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HNF1A-AS1, HPD, HRK, HSPB8, IL31, KDM2B, KDM2B-DT, KMT5A, KNTC1, KSR2, LINC00173, LINC00507, LINC00508, LINC00934, LINC00939, LINC00943, LINC00944, LINC01089, LINC01257, LINC02347, LINC02350, LINC02359, LINC02361, LINC02368, LINC02369, LINC02370, LINC02372, LINC02375, LINC02376, LINC02393, LINC02405, LINC02411, LINC02414, LINC02415, LINC02418, LINC02419, LINC02423, LINC02439, LINC02440, LINC02441, LINC02460, LINC02824, LINC02825, LINC02826, LINC02985, LOC100128276, LOC100506551, LOC100996671, LOC101593348, LOC101928416, LOC105370024, LOC105370068, LOC106783497, LOC109280165, LOC109286556, LOC110120878, LOC110599568, LOC111258525, LOC111258526, LOC111556143, LOC111776216, LOC112163525, LOC112163526, LOC112163527, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163546, LOC112163547, LOC113939933, LOC113939934, LOC116268451, LOC116268452, LOC116268453, LOC121466716, LOC121466717, LOC121466718, LOC121466719, LOC121466720, LOC121466721, LOC121466722, LOC121466723, LOC121466724, LOC121466725, LOC121466726, LOC121466727, LOC121838564, LOC121838565, LOC121838566, LOC121838567, LOC121838568, LOC121838569, LOC121838570, LOC121838571, 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, 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, LOC128125816, LOC128706664, LOC128772386, LOC128772387, LRCOL1, LRRC43, MAP1LC3B2, MED13L, MIR1178, MIR3612, MIR3908, MIR4304, MIR4419B, MIR4472-2, MIR4498, MIR4700, MIR5188, MIR620, MIR6763, MIR6880, MIR7107, MIR8072, MIR9902-1, MIR9902-2, MLEC, MLXIP, MMP17, MORN3, MPHOSPH9, MSI1, MTRFR, MUC8, NCOR2, NOC4L, NOS1, NRAV, OASL, OGFOD2, ORAI1, P2RX2, P2RX4, P2RX7, PEBP1, PGAM5, PITPNM2, PITPNM2-AS1, PIWIL1, PLA2G1B, POLE, POP5, PRKAB1, PSMD9, PUS1, PXMP2, PXN, PXN-AS1, RAB35, RAB35-AS1, RAN, RFC5, RFLNA, RHOF, RILPL1, RILPL2, RIMBP2, RNF10, RNF34, RNFT2, RNU4-1, RNU4-2, RPLP0, RSRC2, SBNO1, SBNO1-AS1, SCARB1, SETD1B, SFSWAP, SIRT4, SLC15A4, SNORA49, SNORA9B, SNRNP35, SPPL3, SPRING1, SRRM4, SRSF9, STX2, SUDS3, TAOK3, TBX3, TBX3-AS1, TBX5, TBX5-AS1, TCTN2, TESC, TESC-AS1, THRIL, TMED2, TMED2-DT, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TMEM233, TRA-TGC3-2, TRA-TGC4-1, TRD-GTC2-10, TRD-GTC2-9, TRF-GAA1-4, TRIAP1, UBC, ULK1, UNC119B, VPS33A, VPS37B, VSIG10, WSB2, XLOC_009911, ZCCHC8, ZNF10, ZNF140, ZNF26
See casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
3.
GRCh37:
Chr12:115569388-133743506
GRCh38:
Chr12:115131583-133166920
AACS, ABCB9, ACADS, ADGRD1, ADGRD1-AS1, ANAPC5, ANKLE2, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BICDL1, BRI3BP, C12orf43, CABP1, CABP1-DT, CAMKK2, CCDC60, CCDC62, CCDC92, CDK2AP1, CFAP251, CHFR, CHFR-DT, CIT, CLIP1, CLIP1-AS1, COQ5, COX6A1, DDX51, DDX55, DENR, DHX37, DIABLO, DNAH10, DYNLL1, EIF2B1, EP400, FBRSL1, FBXO21, FBXW8, FZD10, FZD10-AS1, GALNT9, GALNT9-AS1, GATC, GCN1, GLT1D1, GOLGA3, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HNF1A-AS1, HPD, HRK, HSPB8, IL31, KDM2B, KDM2B-DT, KMT5A, KNTC1, KSR2, LINC00173, LINC00507, LINC00508, LINC00934, LINC00939, LINC00943, LINC00944, LINC01089, LINC01257, LINC02347, LINC02350, LINC02359, LINC02361, LINC02368, LINC02369, LINC02370, LINC02372, LINC02375, LINC02376, LINC02393, LINC02405, LINC02411, LINC02414, LINC02415, LINC02418, LINC02419, LINC02423, LINC02439, LINC02440, LINC02441, LINC02460, LINC02824, LINC02825, LINC02826, LINC02985, LOC100128276, LOC100506551, LOC100996671, LOC101593348, LOC101928416, LOC105370024, LOC105370068, LOC106783497, LOC110599568, LOC111258525, LOC111258526, LOC111556143, LOC111776216, LOC112163526, LOC112163527, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163546, LOC112163547, LOC113939933, LOC113939934, LOC116268451, LOC116268452, LOC116268453, LOC121466716, LOC121466717, LOC121466718, LOC121466719, LOC121466720, LOC121466721, LOC121466722, LOC121466723, LOC121466724, LOC121466725, LOC121466726, LOC121466727, LOC121838565, LOC121838566, LOC121838567, LOC121838568, LOC121838569, LOC121838570, LOC121838571, 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, 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, LOC128125816, LOC128706664, LOC128772386, LOC128772387, LRCOL1, LRRC43, MAP1LC3B2, MED13L, MIR1178, MIR3612, MIR3908, MIR4304, MIR4419B, MIR4472-2, MIR4498, MIR4700, MIR5188, MIR620, MIR6763, MIR6880, MIR7107, MIR8072, MIR9902-1, MIR9902-2, MLEC, MLXIP, MMP17, MORN3, MPHOSPH9, MSI1, MTRFR, MUC8, NCOR2, NOC4L, NOS1, NRAV, OASL, OGFOD2, ORAI1, P2RX2, P2RX4, P2RX7, PEBP1, PGAM5, PITPNM2, PITPNM2-AS1, PIWIL1, PLA2G1B, POLE, POP5, PRKAB1, PSMD9, PUS1, PXMP2, PXN, PXN-AS1, RAB35, RAB35-AS1, RAN, RFC5, RFLNA, RHOF, RILPL1, RILPL2, RIMBP2, RNF10, RNF34, RNFT2, RNU4-1, RNU4-2, RPLP0, RSRC2, SBNO1, SBNO1-AS1, SCARB1, SETD1B, SFSWAP, SIRT4, SLC15A4, SNORA49, SNORA9B, SNRNP35, SPPL3, SPRING1, SRRM4, SRSF9, STX2, SUDS3, TAOK3, TCTN2, TESC, TESC-AS1, THRIL, TMED2, TMED2-DT, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TMEM233, TRA-TGC3-2, TRA-TGC4-1, TRD-GTC2-10, TRD-GTC2-9, TRF-GAA1-4, TRIAP1, UBC, ULK1, UNC119B, VPS33A, VPS37B, VSIG10, WSB2, XLOC_009911, ZCCHC8, ZNF10, ZNF140, ZNF26, ZNF605, ZNF664, ZNF664-RFLNA, ZNF84, ZNF84-DT, ZNF891
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr12:116398786
GRCh38:
Chr12:115960981
MED13Lnot providedLikely benign
(Sep 29, 2019)
criteria provided, single submitter
5.
GRCh37:
Chr12:116399060
GRCh38:
Chr12:115961255
MED13Lnot providedBenign
(Mar 3, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr12:116399078
GRCh38:
Chr12:115961273
MED13LI2209TCardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significance
(Mar 24, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr12:116399112
GRCh38:
Chr12:115961307
MED13LV2198Lnot providedUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr12:116399121
GRCh38:
Chr12:115961316
MED13LH2195YSee casesLikely pathogenic
(Apr 26, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr12:116399122
GRCh38:
Chr12:115961317
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Oct 5, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr12:116399124
GRCh38:
Chr12:115961319
MED13LV2194IIntellectual disabilityLikely benign
(Jan 1, 2019)
no assertion criteria provided
11.
GRCh37:
Chr12:116399125
GRCh38:
Chr12:115961320
MED13LTransposition of the great arteries, dextro-loopedBenign
(Mar 11, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr12:116399127
GRCh38:
Chr12:115961322
MED13LP2193TCardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significance
(Dec 3, 2020)
criteria provided, single submitter
13.
GRCh37:
Chr12:116399133-116399134
GRCh38:
Chr12:115961328-115961329
MED13LC2191fsTransposition of the great arteries, dextro-loopedUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr12:116399135
GRCh38:
Chr12:115961330
MED13LS2190CTransposition of the great arteries, dextro-loopedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr12:116399148
GRCh38:
Chr12:115961343
MED13LQ2186*not providedLikely pathogenic
(Aug 18, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr12:116399150
GRCh38:
Chr12:115961345
MED13LT2185Nnot providedUncertain significance
(Mar 7, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr12:116399155
GRCh38:
Chr12:115961350
MED13Lnot providedLikely benignno assertion criteria provided
18.
GRCh37:
Chr12:116399159
GRCh38:
Chr12:115961354
MED13LN2182STransposition of the great arteries, dextro-loopedBenign
(Oct 27, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr12:116399164
GRCh38:
Chr12:115961359
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Jan 3, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr12:116399165
GRCh38:
Chr12:115961360
MED13LT2180Mnot providedUncertain significance
(Oct 28, 2019)
criteria provided, single submitter
21.
GRCh37:
Chr12:116399182
GRCh38:
Chr12:115961377
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Oct 1, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr12:116399195
GRCh38:
Chr12:115961390
MED13LL2170Wnot providedLikely pathogenic
(Sep 12, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr12:116399212
GRCh38:
Chr12:115961407
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Nov 20, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr12:116399221
GRCh38:
Chr12:115961416
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Jun 22, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr12:116401194
GRCh38:
Chr12:115963389
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Jul 26, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr12:116401224
GRCh38:
Chr12:115963419
MED13LS2163LTransposition of the great arteries, dextro-looped, Cardiac anomalies - developmental delay - facial dysmorphism syndrome, not provided
Pathogenic/Likely pathogenic
(Sep 1, 2019)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr12:116401226
GRCh38:
Chr12:115963421
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Sep 9, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr12:116401227
GRCh38:
Chr12:115963422
MED13LT2162MCardiac anomalies - developmental delay - facial dysmorphism syndrome, not provided, Transposition of the great arteries, dextro-looped
Pathogenic
(May 13, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr12:116401250-116401251
GRCh38:
Chr12:115963445-115963446
MED13LH2155fsnot providedLikely pathogenic
(Jul 27, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr12:116401277
GRCh38:
Chr12:115963472
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Oct 8, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr12:116401294
GRCh38:
Chr12:115963489
MED13LQ2140*not provided, Inborn genetic diseasesPathogenic
(Oct 16, 2017)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr12:116401320
GRCh38:
Chr12:115963515
MED13LS2131Lnot providedUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr12:116401326
GRCh38:
Chr12:115963521
MED13Lnot providedPathogenic
(Apr 1, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr12:116401330-116401331
GRCh38:
Chr12:115963525-115963526
MED13LTransposition of the great arteries, dextro-loopedBenign
(Aug 22, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr12:116403867
GRCh38:
Chr12:115966062
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Jun 8, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr12:116403883
GRCh38:
Chr12:115966078
MED13LTransposition of the great arteries, dextro-loopedUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr12:116403907
GRCh38:
Chr12:115966102
MED13LQ2123*not providedPathogenic
(Feb 1, 2020)
criteria provided, single submitter
38.
GRCh37:
Chr12:116403918
GRCh38:
Chr12:115966113
MED13LQ2119RCardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significance
(Dec 15, 2020)
criteria provided, single submitter
39.
GRCh37:
Chr12:116403920
GRCh38:
Chr12:115966115
MED13Lnot provided, Transposition of the great arteries, dextro-loopedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:116403926
GRCh38:
Chr12:115966121
MED13LTransposition of the great arteries, dextro-looped, not providedLikely benign
(Mar 10, 2021)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr12:116403927
GRCh38:
Chr12:115966122
MED13LS2116LTransposition of the great arteries, dextro-looped, Cardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significance
(May 30, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr12:116403938
GRCh38:
Chr12:115966133
MED13LW2112*Inborn genetic diseasesPathogenic
(Aug 18, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr12:116403943
GRCh38:
Chr12:115966138
MED13LQ2111*Inborn genetic diseasesPathogenic
(Nov 2, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr12:116403956
GRCh38:
Chr12:115966151
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Sep 10, 2020)
criteria provided, single submitter
45.
GRCh37:
Chr12:116403963
GRCh38:
Chr12:115966158
MED13LA2104VTransposition of the great arteries, dextro-loopedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr12:116403964
GRCh38:
Chr12:115966159
MED13LA2104Snot providedUncertain significance
(Oct 10, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr12:116403989-116403990
GRCh38:
Chr12:115966184-115966185
MED13LA2096fsnot providedPathogenic
(Mar 11, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr12:116403994
GRCh38:
Chr12:115966189
MED13LP2094TInborn genetic diseasesPathogenic
(May 21, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr12:116404000
GRCh38:
Chr12:115966195
MED13LQ2092ECardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significance
(Dec 12, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr12:116404014
GRCh38:
Chr12:115966209
MED13LP2087fsCardiac anomalies - developmental delay - facial dysmorphism syndromePathogenicno assertion criteria provided
51.
GRCh37:
Chr12:116404029
GRCh38:
Chr12:115966224
MED13LL2082HTransposition of the great arteries, dextro-loopedUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr12:116404034-116404035
GRCh38:
Chr12:115966229-115966230
MED13LL2081fsTransposition of the great arteries, dextro-loopedPathogenic
(Jun 18, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr12:116404046
GRCh38:
Chr12:115966241
MED13LS2076Rnot providedUncertain significance
(May 26, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr12:116404049
GRCh38:
Chr12:115966244
MED13LCardiac anomalies - developmental delay - facial dysmorphism syndromePathogenic
(Mar 3, 2017)
no assertion criteria provided
55.
GRCh37:
Chr12:116406725
GRCh38:
Chr12:115968920
MED13LTransposition of the great arteries, dextro-looped, not providedBenign
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr12:116406774-116406775
GRCh38:
Chr12:115968969-115968970
MED13LG2066fsCardiac anomalies - developmental delay - facial dysmorphism syndromePathogenic
(Aug 31, 2021)
no assertion criteria provided
57.
GRCh37:
Chr12:116406781
GRCh38:
Chr12:115968976
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Jul 3, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr12:116406786
GRCh38:
Chr12:115968981
MED13LP2062SCardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr12:116406815
GRCh38:
Chr12:115969010
MED13LN2052TCardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significancecriteria provided, single submitter
60.
GRCh37:
Chr12:116406819
GRCh38:
Chr12:115969014
MED13LP2051SCardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significance
(Oct 6, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr12:116406831
GRCh38:
Chr12:115969026
MED13LL2047VTransposition of the great arteries, dextro-looped, not providedUncertain significance
(Jun 15, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr12:116406832
GRCh38:
Chr12:115969027
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Jan 3, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr12:116406845-116406852
GRCh38:
Chr12:115969040-115969047
MED13LG2040fsIntellectual disabilityPathogenic
(Jul 25, 2014)
criteria provided, single submitter
64.
GRCh37:
Chr12:116406862
GRCh38:
Chr12:115969057
MED13LTransposition of the great arteries, dextro-loopedBenign
(Jul 26, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr12:116406891
GRCh38:
Chr12:115969086
MED13LV2027FInborn genetic diseasesUncertain significance
(Aug 21, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr12:116406896-116406897
GRCh38:
Chr12:115969091-115969092
MED13LM2025fsnot providedPathogenic
(May 9, 2017)
criteria provided, single submitter
67.
GRCh37:
Chr12:116406902
GRCh38:
Chr12:115969097
MED13LD2023GTransposition of the great arteries, dextro-loopedUncertain significance
(Dec 9, 2003)
no assertion criteria provided
68.
GRCh37:
Chr12:116406910
GRCh38:
Chr12:115969105
MED13Lnot provided, Transposition of the great arteries, dextro-loopedBenign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr12:116406919
GRCh38:
Chr12:115969114
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Sep 12, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr12:116408257
GRCh38:
Chr12:115970452
MED13Lnot providedBenign
(Jul 3, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr12:116408392
GRCh38:
Chr12:115970587
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Oct 20, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr12:116408427
GRCh38:
Chr12:115970622
MED13LN2014fsCardiac anomalies - developmental delay - facial dysmorphism syndromePathogenic
(Oct 19, 2020)
criteria provided, single submitter
73.
GRCh37:
Chr12:116408429
GRCh38:
Chr12:115970624
MED13LP2013ATransposition of the great arteries, dextro-loopedLikely benign
(Feb 3, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr12:116408431-116408449
GRCh38:
Chr12:115970626-115970644
MED13LQ2006fsCardiac anomalies - developmental delay - facial dysmorphism syndromePathogenic
(Aug 28, 2019)
criteria provided, single submitter
75.
GRCh37:
Chr12:116408453
GRCh38:
Chr12:115970648
MED13LI2005Fnot specifiedUncertain significance
(Jan 27, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr12:116408468-116408470
GRCh38:
Chr12:115970663-115970665
MED13LCardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significance
(May 25, 2018)
no assertion criteria provided
77.
GRCh37:
Chr12:116408475-116408476
GRCh38:
Chr12:115970670-115970671
MED13LL1997fsTransposition of the great arteries, dextro-loopedPathogenic
(Feb 21, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr12:116408480
GRCh38:
Chr12:115970675
MED13LI1996VCardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significance
(May 29, 2020)
criteria provided, single submitter
79.
GRCh37:
Chr12:116408481
GRCh38:
Chr12:115970676
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr12:116408488
GRCh38:
Chr12:115970683
MED13LC1993YCardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significance
(Oct 25, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr12:116408501
GRCh38:
Chr12:115970696
MED13LQ1989*Cardiac anomalies - developmental delay - facial dysmorphism syndromeLikely pathogenic
(Sep 13, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr12:116408511
GRCh38:
Chr12:115970706
MED13LTransposition of the great arteries, dextro-looped, not providedBenign/Likely benign
(Oct 29, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr12:116408513
GRCh38:
Chr12:115970708
MED13LL1985Vnot providedUncertain significance
(Jan 30, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr12:116408515
GRCh38:
Chr12:115970710
MED13LQ1984Rnot providedUncertain significance
(Jul 25, 2019)
criteria provided, single submitter
85.
GRCh37:
Chr12:116408516-116408517
GRCh38:
Chr12:115970711-115970712
MED13LQ1984fsImpaired intellectual development and distinctive facial features with cardiac defectsPathogenic
(Sep 30, 2021)
no assertion criteria provided
86.
GRCh37:
Chr12:116408517
GRCh38:
Chr12:115970712
MED13Lnot providedLikely benign
(Aug 16, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr12:116408520
GRCh38:
Chr12:115970715
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Aug 19, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr12:116408523
GRCh38:
Chr12:115970718
MED13LQ1981HTransposition of the great arteries, dextro-loopedUncertain significance
(Aug 6, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr12:116408525
GRCh38:
Chr12:115970720
MED13LQ1981*Cardiac anomalies - developmental delay - facial dysmorphism syndromePathogeniccriteria provided, single submitter
90.
GRCh37:
Chr12:116408527
GRCh38:
Chr12:115970722
MED13LM1980KTransposition of the great arteries, dextro-loopedUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr12:116408538
GRCh38:
Chr12:115970733
MED13LTransposition of the great arteries, dextro-looped, not providedBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr12:116408545
GRCh38:
Chr12:115970740
MED13LR1974Qnot providedUncertain significance
(Jul 1, 2019)
criteria provided, single submitter
93.
GRCh37:
Chr12:116408562
GRCh38:
Chr12:115970757
MED13LM1968ICardiac anomalies - developmental delay - facial dysmorphism syndromeUncertain significancecriteria provided, single submitter
94.
GRCh37:
Chr12:116408564
GRCh38:
Chr12:115970759
MED13LM1968VTransposition of the great arteries, dextro-loopedBenign
(Sep 6, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr12:116408587
GRCh38:
Chr12:115970782
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Jun 28, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr12:116408591
GRCh38:
Chr12:115970786
MED13LTransposition of the great arteries, dextro-loopedLikely benign
(Sep 16, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr12:116408617
GRCh38:
Chr12:115970812
MED13Lnot providedBenign
(Mar 30, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr12:116408746
GRCh38:
Chr12:115970941
MED13Lnot providedLikely benign
(Dec 24, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr12:116408859
GRCh38:
Chr12:115971054
MED13Lnot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr12:116409806
GRCh38:
Chr12:115972001
MED13Lnot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitter
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