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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:
Chr12:113515580-114810171
GRCh38:
Chr12:113077775-114372366
See casesPathogenic
(Jul 22, 2013)
no assertion criteria provided
3.
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
4.
GRCh37:
Chr12:114791789
GRCh38:
Chr12:114353984
TBX5Holt-Oram syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr12:114791826
GRCh38:
Chr12:114354021
TBX5Holt-Oram syndromeUncertain significance
(Aug 18, 2021)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr12:114791857-114791860
GRCh38:
Chr12:114354052-114354055
TBX5Holt-Oram syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr12:114791891
GRCh38:
Chr12:114354086
TBX5Holt-Oram syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr12:114791952
GRCh38:
Chr12:114354147
TBX5Holt-Oram syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr12:114791964
GRCh38:
Chr12:114354159
TBX5Holt-Oram syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr12:114791993
GRCh38:
Chr12:114354188
TBX5Holt-Oram syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr12:114792006
GRCh38:
Chr12:114354201
TBX5Holt-Oram syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr12:114792141
GRCh38:
Chr12:114354336
TBX5Holt-Oram syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr12:114792149
GRCh38:
Chr12:114354344
TBX5Holt-Oram syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr12:114792226
GRCh38:
Chr12:114354421
TBX5Holt-Oram syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr12:114792236
GRCh38:
Chr12:114354431
TBX5Holt-Oram syndrome, not providedBenign
(Jan 11, 2019)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr12:114792266
GRCh38:
Chr12:114354461
TBX5Holt-Oram syndromeUncertain significance
(Aug 12, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr12:114792377
GRCh38:
Chr12:114354572
TBX5Holt-Oram syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr12:114792411
GRCh38:
Chr12:114354606
TBX5Holt-Oram syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr12:114792428
GRCh38:
Chr12:114354623
TBX5Holt-Oram syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr12:114792462
GRCh38:
Chr12:114354657
TBX5Holt-Oram syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr12:114792481
GRCh38:
Chr12:114354676
TBX5Holt-Oram syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr12:114792485
GRCh38:
Chr12:114354680
TBX5Holt-Oram syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr12:114792501
GRCh38:
Chr12:114354696
TBX5Holt-Oram syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr12:114792525
GRCh38:
Chr12:114354720
TBX5Holt-Oram syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr12:114792531
GRCh38:
Chr12:114354726
TBX5Holt-Oram syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr12:114792542
GRCh38:
Chr12:114354737
TBX5Holt-Oram syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr12:114792578-114792582
GRCh38:
Chr12:114354773-114354777
TBX5Holt-Oram syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr12:114792598
GRCh38:
Chr12:114354793
TBX5Holt-Oram syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr12:114792619
GRCh38:
Chr12:114354814
TBX5Holt-Oram syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr12:114792620
GRCh38:
Chr12:114354815
TBX5Holt-Oram syndromeUncertain significance
(Mar 16, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr12:114792635
GRCh38:
Chr12:114354830
TBX5Holt-Oram syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr12:114792664
GRCh38:
Chr12:114354859
TBX5Holt-Oram syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr12:114792736
GRCh38:
Chr12:114354931
TBX5Holt-Oram syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr12:114792774
GRCh38:
Chr12:114354969
TBX5Holt-Oram syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr12:114792792
GRCh38:
Chr12:114354987
TBX5Holt-Oram syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr12:114792813
GRCh38:
Chr12:114355008
TBX5Holt-Oram syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr12:114792857
GRCh38:
Chr12:114355052
TBX5Holt-Oram syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr12:114792898
GRCh38:
Chr12:114355093
TBX5Holt-Oram syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr12:114792953
GRCh38:
Chr12:114355148
TBX5Holt-Oram syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr12:114793031
GRCh38:
Chr12:114355226
TBX5Holt-Oram syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr12:114793060
GRCh38:
Chr12:114355255
TBX5Holt-Oram syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr12:114793190
GRCh38:
Chr12:114355385
TBX5Holt-Oram syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr12:114793208
GRCh38:
Chr12:114355403
TBX5Holt-Oram syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr12:114793216
GRCh38:
Chr12:114355411
TBX5Holt-Oram syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr12:114793240
GRCh38:
Chr12:114355435
TBX5Holt-Oram syndrome, not providedBenign
(Jul 5, 2018)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr12:114793260
GRCh38:
Chr12:114355455
TBX5Holt-Oram syndrome, not providedBenign
(Aug 24, 2019)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr12:114793297
GRCh38:
Chr12:114355492
TBX5not provided, not specified, Holt-Oram syndrome
Benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr12:114793333
GRCh38:
Chr12:114355528
TBX5Holt-Oram syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr12:114793348
GRCh38:
Chr12:114355543
TBX5D466N, D516NAortic valve disease 2, Cardiovascular phenotypeUncertain significance
(Jul 14, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr12:114793349
GRCh38:
Chr12:114355544
TBX5S465R, S515RAortic valve disease 2Uncertain significance
(Sep 15, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr12:114793349
GRCh38:
Chr12:114355544
TBX5Cardiovascular phenotype, Aortic valve disease 2Benign/Likely benign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr12:114793350
GRCh38:
Chr12:114355545
TBX5S465N, S515NAortic valve disease 2Uncertain significance
(Feb 21, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr12:114793356
GRCh38:
Chr12:114355551
TBX5E513G, E463GCardiovascular phenotypeUncertain significance
(Dec 18, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr12:114793370
GRCh38:
Chr12:114355565
TBX5Aortic valve disease 2Likely benign
(May 6, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr12:114793374
GRCh38:
Chr12:114355569
TBX5G457E, G507ECardiovascular phenotypeUncertain significance
(Feb 27, 2020)
criteria provided, single submitter
56.
GRCh37:
Chr12:114793375
GRCh38:
Chr12:114355570
TBX5G507R, G457RCardiovascular phenotypeUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr12:114793376
GRCh38:
Chr12:114355571
TBX5Aortic valve disease 2Likely benign
(May 3, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr12:114793401
GRCh38:
Chr12:114355596
TBX5S448Y, S498YAortic valve disease 2Likely benign
(Oct 11, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr12:114793406
GRCh38:
Chr12:114355601
TBX5Cardiovascular phenotypeLikely benign
(Aug 20, 2019)
criteria provided, single submitter
60.
GRCh37:
Chr12:114793409
GRCh38:
Chr12:114355604
TBX5T446fs, T496fsCardiovascular phenotypeUncertain significance
(Mar 2, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr12:114793417
GRCh38:
Chr12:114355612
TBX5V443M, V493Mnot provided, Cardiovascular phenotype, Aortic valve disease 2
Conflicting interpretations of pathogenicity
(Jun 9, 2022)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr12:114793418
GRCh38:
Chr12:114355613
TBX5not provided, Cardiovascular phenotype, Holt-Oram syndrome,
Aortic valve disease 2
Likely benign
(Sep 10, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr12:114793425
GRCh38:
Chr12:114355620
TBX5S490F, S440FCardiovascular phenotypeUncertain significance
(Dec 5, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr12:114793443
GRCh38:
Chr12:114355638
TBX5P434H, P484HAortic valve disease 2Likely benign
(Sep 7, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr12:114793445
GRCh38:
Chr12:114355640
TBX5Cardiovascular phenotype, Holt-Oram syndrome, Aortic valve disease 2
Benign/Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr12:114793451
GRCh38:
Chr12:114355646
TBX5Cardiovascular phenotype, not provided, Aortic valve disease 2
Likely benign
(Aug 17, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr12:114793452
GRCh38:
Chr12:114355647
TBX5T431I, T481ICardiovascular phenotype, Aortic valve disease 2Uncertain significance
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr12:114793453-114793487
GRCh38:
Chr12:114355648-114355682
TBX5Q419fs, Q469fsnot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr12:114793454
GRCh38:
Chr12:114355649
TBX5Cardiovascular phenotypeLikely benign
(May 18, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr12:114793465
GRCh38:
Chr12:114355660
TBX5Q477*, Q427*Aortic valve disease 2Uncertain significance
(Nov 3, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr12:114793469
GRCh38:
Chr12:114355664
TBX5Aortic valve disease 2, Cardiovascular phenotypeBenign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr12:114793481
GRCh38:
Chr12:114355676
TBX5Cardiovascular phenotype, Aortic valve disease 2Likely benign
(Oct 2, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr12:114793487
GRCh38:
Chr12:114355682
TBX5Q419H, Q469HCardiovascular phenotypeUncertain significance
(Jul 23, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr12:114793498
GRCh38:
Chr12:114355693
TBX5V416M, V466MHolt-Oram syndrome, Cardiovascular phenotype, Aortic valve disease 2
Uncertain significance
(Oct 28, 2021)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr12:114793506
GRCh38:
Chr12:114355701
TBX5H463P, H413PCardiovascular phenotypeUncertain significance
(Nov 14, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr12:114793510
GRCh38:
Chr12:114355705
TBX5A412S, A462Snot providedUncertain significance
(Apr 4, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr12:114793513
GRCh38:
Chr12:114355708
TBX5V411M, V461MAortic valve disease 2Likely benign
(Oct 20, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr12:114793514
GRCh38:
Chr12:114355709
TBX5not provided, Aortic valve disease 2Likely benign
(Mar 26, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr12:114793518
GRCh38:
Chr12:114355713
TBX5T409N, T459NCardiovascular phenotypeUncertain significance
(Jan 21, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr12:114793532
GRCh38:
Chr12:114355727
TBX5M404I, M454IHolt-Oram syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr12:114793533
GRCh38:
Chr12:114355728
TBX5M454T, M404TCardiovascular phenotypeUncertain significance
(Dec 16, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr12:114793546
GRCh38:
Chr12:114355741
TBX5L450V, L400VAortic valve disease 2Uncertain significance
(Sep 24, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr12:114793548
GRCh38:
Chr12:114355743
TBX5Q399fs, Q449fsHolt-Oram syndromePathogenic
(Jun 14, 2018)
no assertion criteria provided
84.
GRCh37:
Chr12:114793551
GRCh38:
Chr12:114355746
TBX5P398L, P448LAortic valve disease 2Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr12:114793562
GRCh38:
Chr12:114355757
TBX5Aortic valve disease 2Likely benign
(Mar 27, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr12:114793562
GRCh38:
Chr12:114355757
TBX5N394K, N444KCardiovascular phenotypeUncertain significance
(Nov 10, 2020)
criteria provided, single submitter
87.
GRCh37:
Chr12:114793572
GRCh38:
Chr12:114355767
TBX5G391D, G441DAortic valve disease 2Uncertain significance
(Apr 8, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr12:114793573
GRCh38:
Chr12:114355768
TBX5G391S, G441SCardiovascular phenotypeUncertain significance
(Oct 30, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr12:114793575
GRCh38:
Chr12:114355770
TBX5A390V, A440VCardiovascular phenotype, Holt-Oram syndromeUncertain significance
(Mar 30, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr12:114793581
GRCh38:
Chr12:114355776
TBX5R438Q, R388QHolt-Oram syndrome, Cardiovascular phenotype, Aortic valve disease 2
Benign/Likely benign
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr12:114793589
GRCh38:
Chr12:114355784
TBX5Cardiovascular phenotypeLikely benign
(Sep 24, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr12:114793591
GRCh38:
Chr12:114355786
TBX5L435fs, L385fsHolt-Oram syndromePathogenic
(Jun 14, 2018)
no assertion criteria provided
93.
GRCh37:
Chr12:114793592
GRCh38:
Chr12:114355787
TBX5Cardiovascular phenotype, Aortic valve disease 2Likely benign
(Sep 3, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr12:114793598
GRCh38:
Chr12:114355793
TBX5Cardiovascular phenotypeLikely benign
(May 17, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr12:114793601
GRCh38:
Chr12:114355796
TBX5Aortic valve disease 2, Cardiovascular phenotypeLikely benign
(Apr 9, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr12:114793605
GRCh38:
Chr12:114355800
TBX5F430S, F380SAortic valve disease 2Likely benign
(Aug 22, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr12:114793612
GRCh38:
Chr12:114355807
TBX5A428T, A378TCardiovascular phenotypeUncertain significance
(Aug 19, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr12:114793613
GRCh38:
Chr12:114355808
TBX5Cardiovascular phenotype, not specified, not provided,
Aortic valve disease 2, Holt-Oram syndrome
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr12:114793621
GRCh38:
Chr12:114355816
TBX5H375N, H425NCardiovascular phenotype, Aortic valve disease 2Uncertain significance
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr12:114793625
GRCh38:
Chr12:114355820
TBX5Y423*, Y373*Holt-Oram syndromePathogenic
(Jun 14, 2018)
no assertion criteria provided
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