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Items: 84

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:20511673-107285437
GRCh38:
Chr14:20043514-106877229
ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTN1-DT, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, TRP-TGG3-2, TRR-ACG1-3, TRT-TGT3-1, TRT-TGT4-1, TRT-TGT5-1, TRY-GTA4-1, TRY-GTA5-3, TRY-GTA5-4, TRY-GTA5-5, TRY-GTA7-1, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC7B-AS1, TTC8, TTC9, TTC9-DT, TTLL5, TUNAR, TXNDC16, UBR7, UNC79, VASH1, VASH1-AS1, VCPKMT, VIPAS39, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP1G2-AS1, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGAP5-AS1, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BAZ1A-AS1, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, C14orf99, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC196, CCDC197, CCDC198, CCDC85C, CCDC88C, CCDC88C-DT, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CIROP, CKB, CLBA1, CLEC14A, CLMN, CMA1, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, COX8C, CPNE6, CPSF2, CRIP1, CRIP2, CTSG, CYP46A1, DAAM1, DACT1, DAD1, DCAF11, DCAF4, DCAF5, DDHD1, DDHD1-DT, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DHRS7, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DTD2, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGILA, EGLN3, EGLN3-AS1, EIF2B2, EIF2S1, EIF5, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FAM181A-AS1, FAM30A, FANCM, FBLN5, FBXO33, FBXO34, FBXO34-AS1, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLRT2-AS1, FLVCR2, FLVCR2-AS1, FNTB, FOS, FOXA1, FOXG1, FOXG1-AS1, FOXN3, FOXN3-AS1, FOXN3-AS2, FRMD6, FRMD6-AS1, FRMD6-AS2, FSCB, FUT8, FUT8-AS1, G2E3, G2E3-AS1, GALC, GALNT16, GALNT16-AS1, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HEATR5A-DT, HECTD1, HHIPL1, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, HISLA, HNRNPC, HOMEZ, HSP90AA1, HSPA2, HSPA2-AS1, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD1-1, IGHD1-14, IGHD1-20, IGHD1-26, IGHD1-7, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHD3-22, IGHD3-3, IGHD3-9, IGHD4-11, IGHD4-17, IGHD4-23, IGHD4-4, IGHD5-12, IGHD5-18, IGHD5-24, IGHD5-5, IGHD6-13, IGHD6-19, IGHD6-25, IGHD6-6, IGHD7-27, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-69-2, IGHV1-69D, IGHV2-26, IGHV2-5, IGHV2-70, IGHV2-70D, IGHV3-11, IGHV3-13, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-64D, IGHV3-66, IGHV3-7, IGHV3-72, IGHV3-73, IGHV3-74, IGHV4-28, IGHV4-30-2, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-10-1, IGHV5-51, IGHV6-1, IGHV7-4-1, IGHV7-81, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KIF26A-DT, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, KTN1-AS1, L2HGDH, L3HYPDH, LBHD2, LGALS3, LGMN, LIN52, LINC00216, LINC00221, LINC00226, LINC00239, LINC00341, LINC00517, LINC00519, LINC00520, LINC00523, LINC00524, LINC00596, LINC00605, LINC00609, LINC00618, LINC00638, LINC00639, LINC00640, LINC00641, LINC00642, LINC00643, LINC00644, LINC00645, LINC00648, LINC00677, LINC00871, LINC00911, LINC01147, LINC01148, LINC01220, LINC01269, LINC01303, LINC01467, LINC01500, LINC01550, LINC01551, LINC01588, LINC01599, LINC01629, LINC02274, LINC02280, LINC02281, LINC02282, LINC02284, LINC02285, LINC02286, LINC02287, LINC02288, LINC02289, LINC02290, LINC02291, LINC02292, LINC02293, LINC02294, LINC02295, LINC02296, LINC02298, LINC02299, LINC02300, LINC02301, LINC02302, LINC02303, LINC02304, LINC02305, LINC02307, LINC02308, LINC02309, LINC02310, LINC02311, LINC02312, LINC02313, LINC02314, LINC02315, LINC02316, LINC02317, LINC02318, LINC02319, LINC02320, LINC02321, LINC02322, LINC02323, LINC02324, LINC02325, LINC02326, LINC02327, LINC02328, LINC02329, LINC02330, LINC02331, LINC02332, LINC02691, LINC02833, LINC02914, LINC03033, LOC100289511, LOC100506071, LOC100506321, LOC100506358, LOC100506499, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101928143, LOC101929718, LOC102723604, LOC105370457, LOC105370473, LOC105370489, LOC105370579, LOC105370586, LOC105370619, LOC105370622, LOC105370687, LOC105370697, LOC105370705, LOC105378183, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, LOC109433677, LOC109433679, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120910, LOC110120925, LOC110121319, LOC110121324, LOC110121325, LOC110121326, LOC110121327, LOC110121333, LOC110121354, LOC110121358, LOC110121362, LOC110121372, LOC110121376, LOC110121377, LOC110121391, LOC110121392, LOC110121404, LOC110121407, LOC110121412, LOC110121414, LOC110121422, LOC110121424, LOC110121431, LOC110121433, LOC110121447, LOC110121459, LOC110121463, LOC110121490, LOC110121504, LOC111365186, LOC111365187, LOC111365188, LOC111365217, LOC111365221, LOC111413013, LOC111413016, LOC111413041, LOC111500315, LOC111556149, LOC111591503, LOC111721711, LOC111811966, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268136, LOC112268140, LOC112268478, LOC112268479, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC112268486, LOC112272545, LOC112272546, LOC112272548, LOC112272549, LOC112272550, LOC112272551, LOC112272552, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC114827851, LOC116268458, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121468012, LOC121468013, LOC121468014, LOC121468015, LOC121468016, LOC121529649, LOC121529650, LOC121529651, LOC121529652, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC121838591, LOC121838592, LOC121838593, LOC121838594, LOC121838595, LOC121838596, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, LOC124958010, LOC124958011, LOC124958012, LOC124958013, LOC124958014, LOC124958015, LOC124958016, LOC124995348, LOC124995349, LOC124995350, LOC124995351, LOC124995352, LOC124995353, LOC124995354, LOC124995355, LOC124995356, LOC124995359, LOC124995360, LOC124995361, LOC124995362, LOC124995363, LOC124995364, LOC124995365, LOC124995366, LOC124995367, LOC124995368, LOC124995369, LOC124995370, LOC124995371, LOC124995372, LOC124995373, LOC124995374, LOC125024475, LOC125024476, LOC125024477, LOC125024478, LOC125024479, LOC125024480, LOC125024481, LOC125024482, LOC125024483, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC125024491, LOC125024492, LOC125024493, LOC125024495, LOC125024496, LOC125024497, LOC125024498, LOC125024499, LOC125024500, LOC125024501, LOC125024503, LOC125024505, LOC125024506, LOC125048423, LOC125048424, LOC125048425, LOC125048426, LOC125048427, LOC125048428, LOC125048429, LOC125048430, LOC125048431, LOC125048432, LOC125048433, LOC125048434, LOC125048435, LOC125048436, LOC125048437, LOC125048439, LOC125048440, LOC125048441, LOC125048442, LOC125048444, LOC125048445, LOC125048446, LOC125048447, LOC125048449, LOC125048450, LOC125048451, LOC125048452, LOC125048453, LOC125048454, LOC125048455, LOC125048456, LOC125048457, LOC125078019, LOC125078020, LOC125078021, LOC125078022, LOC125078024, LOC125078025, LOC125078026, LOC125078027, LOC125078028, LOC125078030, LOC125078031, LOC125078034, LOC125078035, LOC125078036, LOC125078037, LOC125078038, LOC125078039, LOC125078040, LOC125078042, LOC125078043, LOC125078045, LOC126861878, LOC126861879, LOC126861880, LOC126861881, LOC126861882, LOC126861883, LOC126861884, LOC126861885, LOC126861886, LOC126861887, LOC126861888, LOC126861889, LOC126861890, LOC126861891, LOC126861892, LOC126861893, LOC126861894, LOC126861895, LOC126861896, LOC126861897, LOC126861898, LOC126861899, LOC126861900, LOC126861901, LOC126861902, LOC126861903, LOC126861904, LOC126861905, LOC126861906, LOC126861907, LOC126861908, LOC126861909, LOC126861910, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC126861915, LOC126861916, LOC126861917, LOC126861918, LOC126861919, LOC126861920, LOC126861921, LOC126861922, LOC126861923, LOC126861924, LOC126861925, LOC126861926, LOC126861927, LOC126861928, LOC126861929, LOC126861930, LOC126861931, LOC126861932, LOC126861933, LOC126861934, LOC126861935, LOC126861936, LOC126861937, LOC126861938, LOC126861939, LOC126861940, LOC126861941, LOC126861942, LOC126861943, LOC126861944, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC126861953, LOC126861954, LOC126861955, LOC126861956, LOC126861957, LOC126861958, LOC126861959, LOC126861960, LOC126861961, LOC126861962, LOC126861963, LOC126861964, LOC126861965, LOC126861966, LOC126861967, LOC126861968, LOC126861969, LOC126861970, LOC126861971, LOC126861972, LOC126861973, LOC126861974, LOC126861975, LOC126861976, LOC126861977, LOC126861978, LOC126861979, LOC126861980, LOC126861981, LOC126861982, LOC126861983, LOC126861984, LOC126861985, LOC126861986, LOC126861987, LOC126861988, LOC126861989, LOC126861990, LOC126861991, LOC126861992, LOC126861993, LOC126861994, LOC126861995, LOC126861996, LOC126861997, LOC126861998, LOC126861999, LOC126862000, LOC126862001, LOC126862002, LOC126862003, LOC126862004, LOC126862005, LOC126862006, LOC126862007, LOC126862008, LOC126862009, LOC126862010, LOC126862011, LOC126862012, LOC126862013, LOC126862014, LOC126862015, LOC126862016, LOC126862017, LOC126862018, LOC126862019, LOC126862020, LOC126862021, LOC126862022, LOC126862023, LOC126862024, LOC126862025, LOC126862026, LOC126862027, LOC126862028, LOC126862029, LOC126862030, LOC126862031, LOC126862032, LOC126862033, LOC126862034, LOC126862035, LOC126862036, LOC126862037, LOC126862038, LOC126862039, LOC126862040, LOC126862041, LOC126862042, LOC126862043, LOC126862044, LOC126862045, LOC126862046, LOC126862047, LOC126862048, LOC126862049, LOC126862050, LOC126862051, LOC126862052, LOC126862053, LOC126862054, LOC126862055, LOC126862056, LOC126862057, LOC126862058, LOC126862059, LOC126862060, LOC126862061, LOC126862062, LOC126862063, LOC126862064, LOC126862065, LOC126862066, LOC126862067, LOC126862068, LOC126862069, LOC126862070, LOC126862071, LOC126862072, LOC126862073, LOC145474, LOC400212, LRFN5, LRP10, LRR1, LRRC74A, LRRC9, LTB4R, LTB4R2, LTBP2, LYSET, MAP3K9, MAP3K9-DT, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, MEG9, METTL17, METTL3, MGAT2, MHRT, MIA2, MIA2-AS1, MIDEAS, MIDEAS-AS1, MIPOL1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR208A, MIR208B, MIR2392, MIR299, MIR300, MIR3171, MIR3171HG, MIR3173, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR337, MIR342, MIR345, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR4307, MIR4307HG, MIR4308, MIR4309, MIR431, MIR432, MIR433, MIR4503, MIR4504, MIR4505, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4706, MIR4707, MIR4708, MIR4709, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR548H1, MIR548Y, MIR5580, MIR5586, MIR5694, MIR6076, MIR624, MIR625, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6717, MIR6764, MIR6765, MIR758, MIR7641-2, MIR770, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR8071-2, MIR889, MIR9718, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTA1-DT, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NRXN3, NUBPL, NUBPL-DT, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR4K17, OR4L1, OR4N5, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OTX2, OTX2-AS1, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPLN-AS1, PAPOLA, PAPOLA-DT, PARP2, PAX9, PCK2, PCNX1, PCNX4, PCNX4-DT, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R13B-DT, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PRKCH-AS1, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PRORP-PSMA6, PROX2, PRPF39, PRPF39-DT, PSEN1, PSMA3, PSMA3-AS1, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, RBM25-AS1, RCOR1, RD3L, RDH11, RDH12, REC8, REM2, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SALRNA1, SAMD15, SAMD4A, SAMD4A-AS1, SAV1, SCARNA13, SCFD1, SDR39U1, SEC23A, SEC23A-AS1, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIPA1L1-AS1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC24A4, SLC25A21, SLC25A21-AS1, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNHG23, SNHG24, SNORA101B, SNORA11B, SNORA28, SNORA79, SNORA79B, SNORA89, SNORD112, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD126, SNORD127, SNORD169, SNORD3P3, SNORD56B, SNORD8, SNORD9, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SPTSSA, SRP54, SRP54-AS1, SRSF5, SSTR1, STON2, STRN3, STXBP6, STYX, SUPT16H, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYNJ2BP-COX16, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEP1, TEX22, TGFB3, TGM1, THTPA, TIMM9, TINF2, TM9SF1, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOMM20L-DT, TOX4, TPPP2, TRA, TRA-AGC15-1, TRAC, TRAF3, TRAJ1, TRAJ10, TRAJ11, TRAJ12, TRAJ13, TRAJ14, TRAJ15, TRAJ16, TRAJ17, TRAJ18, TRAJ19, TRAJ2, TRAJ20, TRAJ21, TRAJ22, TRAJ23, TRAJ24, TRAJ25, TRAJ26, TRAJ27, TRAJ28, TRAJ29, TRAJ3, TRAJ30, TRAJ31, TRAJ32, TRAJ33, TRAJ34, TRAJ35, TRAJ36, TRAJ37, TRAJ38, TRAJ39, TRAJ4, TRAJ40, TRAJ41, TRAJ42, TRAJ43, TRAJ44, TRAJ45, TRAJ46, TRAJ47, TRAJ48, TRAJ49, TRAJ5, TRAJ50, TRAJ52, TRAJ53, TRAJ54, TRAJ56, TRAJ57, TRAJ58, TRAJ59, TRAJ6, TRAJ61, TRAJ7, TRAJ8, TRAJ9, TRAPPC6B, TRAV1-1, TRAV1-2, TRAV10, TRAV12-1, TRAV12-2, TRAV12-3, TRAV13-1, TRAV13-2, TRAV14DV4, TRAV16, TRAV17, TRAV18, TRAV19, TRAV2, TRAV20, TRAV21, TRAV22, TRAV23DV6, TRAV24, TRAV25, TRAV26-1, TRAV26-2, TRAV27, TRAV29DV5, TRAV3, TRAV30, TRAV34, TRAV35, TRAV36DV7, TRAV38-1, TRAV38-2DV8, TRAV39, TRAV4, TRAV40, TRAV41, TRAV5, TRAV6, TRAV7, TRAV8-1, TRAV8-2, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-1, TRAV9-2, TRC-GCA8-1, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRI-AAT5-4, TRIM9, TRIP11, TRK-CTT1-1, TRL-AAG2-3, TRL-TAG2-1, TRMT5, TRMT61A, TRP-AGG2-5, TRP-AGG2-6, TRP-TGG1-1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
2.
GRCh37:
Chr14:20619308-107263478
GRCh38:
Chr14:20151149-106855263
IGHV3-72, IGHV3-73, IGHV3-74, IGHV4-28, IGHV4-30-2, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-10-1, IGHV5-51, IGHV6-1, IGHV7-4-1, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KIF26A-DT, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, KTN1-AS1, L2HGDH, L3HYPDH, LBHD2, LGALS3, LGMN, LIN52, LINC00216, LINC00221, LINC00226, LINC00239, LINC00341, LINC00517, LINC00519, LINC00520, LINC00523, LINC00524, LINC00596, LINC00605, LINC00609, LINC00618, LINC00638, LINC00639, LINC00640, LINC00641, LINC00642, LINC00643, LINC00644, LINC00645, LINC00648, LINC00677, LINC00871, LINC00911, LINC01147, LINC01148, LINC01220, LINC01269, LINC01303, LINC01467, LINC01500, LINC01550, LINC01551, LINC01588, LINC01599, LINC01629, LINC02274, LINC02280, LINC02281, LINC02282, LINC02284, LINC02285, LINC02286, LINC02287, LINC02288, LINC02289, LINC02290, LINC02291, LINC02292, LINC02293, LINC02294, LINC02295, LINC02296, LINC02298, LINC02299, LINC02300, LINC02301, LINC02302, LINC02303, LINC02304, LINC02305, LINC02307, LINC02308, LINC02309, LINC02310, LINC02311, LINC02312, LINC02313, LINC02314, LINC02315, LINC02316, LINC02317, LINC02318, LINC02319, LINC02320, LINC02321, LINC02322, LINC02323, LINC02324, LINC02325, LINC02326, LINC02327, LINC02328, LINC02329, LINC02330, LINC02331, LINC02332, LINC02691, LINC02833, LINC02914, LINC03033, LOC100289511, LOC100506071, LOC100506321, LOC100506358, LOC100506499, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101928143, LOC101929718, LOC102723604, LOC105370457, LOC105370473, LOC105370489, LOC105370579, LOC105370586, LOC105370619, LOC105370622, LOC105370687, LOC105370697, LOC105370705, LOC105378183, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, LOC109433677, LOC109433679, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120910, LOC110120925, LOC110121319, LOC110121324, LOC110121325, LOC110121326, LOC110121327, LOC110121333, LOC110121354, LOC110121358, LOC110121362, LOC110121372, LOC110121376, LOC110121377, LOC110121391, LOC110121392, LOC110121404, LOC110121407, LOC110121412, LOC110121414, LOC110121422, LOC110121424, LOC110121431, LOC110121433, LOC110121447, LOC110121459, LOC110121463, LOC110121490, LOC110121504, LOC111365186, LOC111365187, LOC111365188, LOC111365217, LOC111365221, LOC111413013, LOC111413016, LOC111413041, LOC111500315, LOC111556149, LOC111591503, LOC111721711, LOC111811966, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268136, LOC112268140, LOC112268478, LOC112268479, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC112268486, LOC112272545, LOC112272546, LOC112272548, LOC112272549, LOC112272550, LOC112272551, LOC112272552, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC114827851, LOC116268458, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121468012, LOC121468013, LOC121468014, LOC121468015, LOC121468016, LOC121529649, LOC121529650, LOC121529651, LOC121529652, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC121838591, LOC121838592, LOC121838593, LOC121838594, LOC121838595, LOC121838596, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, LOC124958010, LOC124958011, LOC124958012, LOC124958013, LOC124958014, LOC124958015, LOC124958016, LOC124995348, LOC124995349, LOC124995350, LOC124995351, LOC124995352, LOC124995353, LOC124995354, LOC124995355, LOC124995356, LOC124995359, LOC124995360, LOC124995361, LOC124995362, LOC124995363, LOC124995364, LOC124995365, LOC124995366, LOC124995367, LOC124995368, LOC124995369, LOC124995370, LOC124995371, LOC124995372, LOC124995373, LOC124995374, LOC125024475, LOC125024476, LOC125024477, LOC125024478, LOC125024479, LOC125024480, LOC125024481, LOC125024482, LOC125024483, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC125024491, LOC125024492, LOC125024493, LOC125024495, LOC125024496, LOC125024497, LOC125024498, LOC125024499, LOC125024500, LOC125024501, LOC125024503, LOC125024505, LOC125024506, LOC125048423, LOC125048424, LOC125048425, LOC125048426, LOC125048427, LOC125048428, LOC125048429, LOC125048430, LOC125048431, LOC125048432, LOC125048433, LOC125048434, LOC125048435, LOC125048436, LOC125048437, LOC125048439, LOC125048440, LOC125048441, LOC125048442, LOC125048444, LOC125048445, LOC125048446, LOC125048447, LOC125048449, LOC125048450, LOC125048451, LOC125048452, LOC125048453, LOC125048454, LOC125048455, LOC125048456, LOC125048457, LOC125078019, LOC125078020, LOC125078021, LOC125078022, LOC125078024, LOC125078025, LOC125078026, LOC125078027, LOC125078028, LOC125078030, LOC125078031, LOC125078034, LOC125078035, LOC125078036, LOC125078037, LOC125078038, LOC125078039, LOC125078040, LOC125078042, LOC125078043, LOC125078045, LOC126861878, LOC126861879, LOC126861880, LOC126861881, LOC126861882, LOC126861883, LOC126861884, LOC126861885, LOC126861886, LOC126861887, LOC126861888, LOC126861889, LOC126861890, LOC126861891, LOC126861892, LOC126861893, LOC126861894, LOC126861895, LOC126861896, LOC126861897, LOC126861898, LOC126861899, LOC126861900, LOC126861901, LOC126861902, LOC126861903, LOC126861904, LOC126861905, LOC126861906, LOC126861907, LOC126861908, LOC126861909, LOC126861910, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC126861915, LOC126861916, LOC126861917, LOC126861918, LOC126861919, LOC126861920, LOC126861921, LOC126861922, LOC126861923, LOC126861924, LOC126861925, LOC126861926, LOC126861927, LOC126861928, LOC126861929, LOC126861930, LOC126861931, LOC126861932, LOC126861933, LOC126861934, LOC126861935, LOC126861936, LOC126861937, LOC126861938, LOC126861939, LOC126861940, LOC126861941, LOC126861942, LOC126861943, LOC126861944, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC126861953, LOC126861954, LOC126861955, LOC126861956, LOC126861957, LOC126861958, LOC126861959, LOC126861960, LOC126861961, LOC126861962, LOC126861963, LOC126861964, LOC126861965, LOC126861966, LOC126861967, LOC126861968, LOC126861969, LOC126861970, LOC126861971, LOC126861972, LOC126861973, LOC126861974, LOC126861975, LOC126861976, LOC126861977, LOC126861978, LOC126861979, LOC126861980, LOC126861981, LOC126861982, LOC126861983, LOC126861984, LOC126861985, LOC126861986, LOC126861987, LOC126861988, LOC126861989, LOC126861990, LOC126861991, LOC126861992, LOC126861993, LOC126861994, LOC126861995, LOC126861996, LOC126861997, LOC126861998, LOC126861999, LOC126862000, LOC126862001, LOC126862002, LOC126862003, LOC126862004, LOC126862005, LOC126862006, LOC126862007, LOC126862008, LOC126862009, LOC126862010, LOC126862011, LOC126862012, LOC126862013, LOC126862014, LOC126862015, LOC126862016, LOC126862017, LOC126862018, LOC126862019, LOC126862020, LOC126862021, LOC126862022, LOC126862023, LOC126862024, LOC126862025, LOC126862026, LOC126862027, LOC126862028, LOC126862029, LOC126862030, LOC126862031, LOC126862032, LOC126862033, LOC126862034, LOC126862035, LOC126862036, LOC126862037, LOC126862038, LOC126862039, LOC126862040, LOC126862041, LOC126862042, LOC126862043, LOC126862044, LOC126862045, LOC126862046, LOC126862047, LOC126862048, LOC126862049, LOC126862050, LOC126862051, LOC126862052, LOC126862053, LOC126862054, LOC126862055, LOC126862056, LOC126862057, LOC126862058, LOC126862059, LOC126862060, LOC126862061, LOC126862062, LOC126862063, LOC126862064, LOC126862065, LOC126862066, LOC126862067, LOC126862068, LOC126862069, LOC126862070, LOC126862071, LOC126862072, LOC126862073, LOC145474, LOC400212, LRFN5, LRP10, LRR1, LRRC74A, LRRC9, LTB4R, LTB4R2, LTBP2, LYSET, MAP3K9, MAP3K9-DT, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, MEG9, METTL17, METTL3, MGAT2, MHRT, MIA2, MIA2-AS1, MIDEAS, MIDEAS-AS1, MIPOL1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR208A, MIR208B, MIR2392, MIR299, MIR300, MIR3171, MIR3171HG, MIR3173, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR337, MIR342, MIR345, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR4307, MIR4307HG, MIR4308, MIR4309, MIR431, MIR432, MIR433, MIR4503, MIR4504, MIR4505, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4706, MIR4707, MIR4708, MIR4709, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR548H1, MIR548Y, MIR5580, MIR5586, MIR5694, MIR6076, MIR624, MIR625, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6717, MIR6764, MIR6765, MIR758, MIR7641-2, MIR770, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR8071-2, MIR889, MIR9718, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTA1-DT, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NRXN3, NUBPL, NUBPL-DT, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OTX2, OTX2-AS1, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPLN-AS1, PAPOLA, PAPOLA-DT, PARP2, PAX9, PCK2, PCNX1, PCNX4, PCNX4-DT, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R13B-DT, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PRKCH-AS1, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PRORP-PSMA6, PROX2, PRPF39, PRPF39-DT, PSEN1, PSMA3, PSMA3-AS1, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, RBM25-AS1, RCOR1, RD3L, RDH11, RDH12, REC8, REM2, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SALRNA1, SAMD15, SAMD4A, SAMD4A-AS1, SAV1, SCARNA13, SCFD1, SDR39U1, SEC23A, SEC23A-AS1, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIPA1L1-AS1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC24A4, SLC25A21, SLC25A21-AS1, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNHG23, SNHG24, SNORA101B, SNORA11B, SNORA28, SNORA79, SNORA79B, SNORA89, SNORD112, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD126, SNORD127, SNORD169, SNORD3P3, SNORD56B, SNORD8, SNORD9, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SPTSSA, SRP54, SRP54-AS1, SRSF5, SSTR1, STON2, STRN3, STXBP6, STYX, SUPT16H, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYNJ2BP-COX16, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEP1, TEX22, TGFB3, TGM1, THTPA, TIMM9, TINF2, TM9SF1, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOMM20L-DT, TOX4, TPPP2, TRA, TRA-AGC15-1, TRAC, TRAF3, TRAJ1, TRAJ10, TRAJ11, TRAJ12, TRAJ13, TRAJ14, TRAJ15, TRAJ16, TRAJ17, TRAJ18, TRAJ19, TRAJ2, TRAJ20, TRAJ21, TRAJ22, TRAJ23, TRAJ24, TRAJ25, TRAJ26, TRAJ27, TRAJ28, TRAJ29, TRAJ3, TRAJ30, TRAJ31, TRAJ32, TRAJ33, TRAJ34, TRAJ35, TRAJ36, TRAJ37, TRAJ38, TRAJ39, TRAJ4, TRAJ40, TRAJ41, TRAJ42, TRAJ43, TRAJ44, TRAJ45, TRAJ46, TRAJ47, TRAJ48, TRAJ49, TRAJ5, TRAJ50, TRAJ52, TRAJ53, TRAJ54, TRAJ56, TRAJ57, TRAJ58, TRAJ59, TRAJ6, TRAJ61, TRAJ7, TRAJ8, TRAJ9, TRAPPC6B, TRAV1-1, TRAV1-2, TRAV10, TRAV12-1, TRAV12-2, TRAV12-3, TRAV13-1, TRAV13-2, TRAV14DV4, TRAV16, TRAV17, TRAV18, TRAV19, TRAV2, TRAV20, TRAV21, TRAV22, TRAV23DV6, TRAV24, TRAV25, TRAV26-1, TRAV26-2, TRAV27, TRAV29DV5, TRAV3, TRAV30, TRAV34, TRAV35, TRAV36DV7, TRAV38-1, TRAV38-2DV8, TRAV39, TRAV4, TRAV40, TRAV41, TRAV5, TRAV6, TRAV7, TRAV8-1, TRAV8-2, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-1, TRAV9-2, TRC-GCA8-1, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRI-AAT5-4, TRIM9, TRIP11, TRK-CTT1-1, TRL-AAG2-3, TRL-TAG2-1, TRMT5, TRMT61A, TRP-AGG2-5, TRP-AGG2-6, TRP-TGG1-1, TRP-TGG3-2, TRR-ACG1-3, TRT-TGT3-1, TRT-TGT4-1, TRT-TGT5-1, TRY-GTA4-1, TRY-GTA5-3, TRY-GTA5-4, TRY-GTA5-5, TRY-GTA7-1, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC7B-AS1, TTC8, TTC9, TTC9-DT, TTLL5, TUNAR, TXNDC16, UBR7, UNC79, VASH1, VASH1-AS1, VCPKMT, VIPAS39, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839, ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTN1-DT, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP1G2-AS1, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGAP5-AS1, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BAZ1A-AS1, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, C14orf99, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC196, CCDC197, CCDC198, CCDC85C, CCDC88C, CCDC88C-DT, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CIROP, CKB, CLBA1, CLEC14A, CLMN, CMA1, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, COX8C, CPNE6, CPSF2, CRIP1, CRIP2, CTSG, CYP46A1, DAAM1, DACT1, DAD1, DCAF11, DCAF4, DCAF5, DDHD1, DDHD1-DT, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DHRS7, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DTD2, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGILA, EGLN3, EGLN3-AS1, EIF2B2, EIF2S1, EIF5, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FAM181A-AS1, FAM30A, FANCM, FBLN5, FBXO33, FBXO34, FBXO34-AS1, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLRT2-AS1, FLVCR2, FLVCR2-AS1, FNTB, FOS, FOXA1, FOXG1, FOXG1-AS1, FOXN3, FOXN3-AS1, FOXN3-AS2, FRMD6, FRMD6-AS1, FRMD6-AS2, FSCB, FUT8, FUT8-AS1, G2E3, G2E3-AS1, GALC, GALNT16, GALNT16-AS1, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HEATR5A-DT, HECTD1, HHIPL1, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, HISLA, HNRNPC, HOMEZ, HSP90AA1, HSPA2, HSPA2-AS1, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD1-1, IGHD1-14, IGHD1-20, IGHD1-26, IGHD1-7, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHD3-22, IGHD3-3, IGHD3-9, IGHD4-11, IGHD4-17, IGHD4-23, IGHD4-4, IGHD5-12, IGHD5-18, IGHD5-24, IGHD5-5, IGHD6-13, IGHD6-19, IGHD6-25, IGHD6-6, IGHD7-27, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-69-2, IGHV1-69D, IGHV2-26, IGHV2-5, IGHV2-70, IGHV2-70D, IGHV3-11, IGHV3-13, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-64D, IGHV3-66, IGHV3-7
See casesPathogenic
(Jan 14, 2011)
no assertion criteria provided
3.
GRCh37:
Chr14:39665376-57181179
GRCh38:
Chr14:39196172-56714461
DDHD1-DT, DLGAP5, DMAC2L, DNAAF2, ERO1A, FANCM, FBXO33, FBXO34, FBXO34-AS1, FERMT2, FKBP3, FRMD6, FRMD6-AS1, FRMD6-AS2, FSCB, GCH1, GMFB, GNG2, GNPNAT1, GPR137C, KLHDC1, KLHDC2, KLHL28, KTN1, KTN1-AS1, L2HGDH, LGALS3, LINC00519, LINC00520, LINC00640, LINC00648, LINC00871, LINC01588, LINC01599, LINC02284, LINC02302, LINC02303, LINC02307, LINC02310, LINC02315, LINC02319, LINC02331, LOC100506499, LOC101927418, LOC101927690, LOC102723604, LOC105370473, LOC105370489, LOC108228206, LOC108281122, LOC109433677, LOC109433679, LOC110121325, LOC110121362, LOC110121414, LOC111413016, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC121468012, LOC121468013, LOC121468014, LOC121838591, LOC121838592, LOC125024475, LOC125024476, LOC125024477, LOC125024478, LOC125024479, LOC125024480, LOC125024481, LOC125024482, LOC125024483, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC126861928, LOC126861929, LOC126861930, LOC126861931, LOC126861932, LOC126861933, LOC126861934, LOC126861935, LOC126861936, LOC126861937, LOC126861938, LOC126861939, LOC126861940, LOC126861941, LOC126861942, LOC126861943, LOC126861944, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC126861953, LOC126861954, LOC400212, LRFN5, LRR1, MAP4K5, MAPK1IP1L, MDGA2, MGAT2, MIA2, MIA2-AS1, MIR4308, MIR4504, MIR548Y, MIR5580, MIR6076, MIS18BP1, NEMF, NID2, NIN, PELI2, POLE2, PRPF39, PRPF39-DT, PSMC6, PTGDR, PTGER2, PYGL, RN7SL1, RN7SL2, RN7SL3, RPL10L, RPL36AL, RPS29, RTRAF, SAMD4A, SAMD4A-AS1, SAV1, SNORD127, SOCS4, SOS2, STYX, TBPL2, TMEM260, TMX1, TOGARAM1, TRIM9, TXNDC16, VCPKMT, WDHD1, ABHD12B, ARF6, ATG14, ATL1, BMP4, C14orf28, CDKL1, CDKN3, CGRRF1, CNIH1, DDHD1
See casesLikely pathogenic
(Nov 26, 2012)
no assertion criteria provided
4.
GRCh37:
Chr14:56811918-57383988
GRCh38:
Chr14:56345200-56917270
LOC101927690, LOC110121404, LOC126861953, LOC126861954, OTX2, OTX2-AS1, TMEM260See casesLikely benign
(Aug 14, 2012)
no assertion criteria provided
5.
GRCh37:
Chr14:57046665
GRCh38:
Chr14:56579947
TMEM260not providedLikely benign
(May 15, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr14:57046667
GRCh38:
Chr14:56579949
TMEM260Q12fsnot providedLikely pathogenic
(Mar 1, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr14:57046707
GRCh38:
Chr14:56579989
TMEM260not providedUncertain significance
(Sep 7, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr14:57046735
GRCh38:
Chr14:56580017
TMEM260A35TInborn genetic diseasesUncertain significance
(May 25, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr14:57046748
GRCh38:
Chr14:56580030
TMEM260V39EInborn genetic diseases, not providedUncertain significance
(Dec 16, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr14:57046765
GRCh38:
Chr14:56580047
TMEM260P45SInborn genetic diseasesUncertain significance
(Dec 5, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr14:57046799
GRCh38:
Chr14:56580081
TMEM260not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr14:57048950-57053841
GRCh38:
Chr14:56582232-56587123
TMEM260Structural heart defects and renal anomalies syndromePathogenic
(Nov 5, 2021)
no assertion criteria provided
13.
GRCh37:
Chr14:57052477
GRCh38:
Chr14:56585759
TMEM260Structural heart defects and renal anomalies syndromePathogenic
(Aug 16, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr14:57052527
GRCh38:
Chr14:56585809
TMEM260A81TInborn genetic diseasesUncertain significance
(Aug 10, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr14:57052547
GRCh38:
Chr14:56585829
TMEM260not providedBenign
(Oct 11, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr14:57052585
GRCh38:
Chr14:56585867
TMEM260L100SStructural heart defects and renal anomalies syndromeUncertain significance
(May 25, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr14:57052630
GRCh38:
Chr14:56585912
TMEM260R115KStructural heart defects and renal anomalies syndromePathogenic
(Nov 5, 2021)
no assertion criteria provided
18.
GRCh37:
Chr14:57070501
GRCh38:
Chr14:56603783
TMEM260Structural heart defects and renal anomalies syndromeBenign
(Sep 10, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr14:57070565
GRCh38:
Chr14:56603847
TMEM260A126VStructural heart defects and renal anomalies syndromeUncertain significance
(Jul 1, 2019)
criteria provided, single submitter
20.
GRCh37:
Chr14:57070588
GRCh38:
Chr14:56603870
TMEM260R134Cnot provided, Inborn genetic diseasesUncertain significance
(Jun 3, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr14:57070596
GRCh38:
Chr14:56603878
TMEM260not providedLikely benign
(Dec 5, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr14:57072294
GRCh38:
Chr14:56605576
TMEM260K177EStructural heart defects and renal anomalies syndromeUncertain significance
(Oct 10, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr14:57072310
GRCh38:
Chr14:56605592
TMEM260C182YInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr14:57072342
GRCh38:
Chr14:56605624
TMEM260I193VInborn genetic diseasesUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr14:57072369
GRCh38:
Chr14:56605651
TMEM260P202SStructural heart defects and renal anomalies syndromeUncertain significance
(Feb 12, 2019)
criteria provided, single submitter
26.
GRCh37:
Chr14:57072370
GRCh38:
Chr14:56605652
TMEM260P202RInborn genetic diseasesUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr14:57075836
GRCh38:
Chr14:56609118
TMEM260G217RStructural heart defects and renal anomalies syndromeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr14:57075855
GRCh38:
Chr14:56609137
TMEM260S223Inot providedBenign
(May 24, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr14:57075872
GRCh38:
Chr14:56609154
TMEM260G229SInborn genetic diseasesUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr14:57075906-57075907
GRCh38:
Chr14:56609188-56609189
TMEM260Y241fsnot providedPathogenic
(Oct 23, 2020)
criteria provided, single submitter
31.
GRCh37:
Chr14:57075920
GRCh38:
Chr14:56609202
TMEM260A245Tnot providedLikely pathogenic
(Mar 12, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr14:57075952-57075953
GRCh38:
Chr14:56609234-56609235
TMEM260Q256fsnot providedPathogenic
(Mar 22, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr14:57075976
GRCh38:
Chr14:56609258
TMEM260not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr14:57082648
GRCh38:
Chr14:56615930
TMEM260Structural heart defects and renal anomalies syndromeBenign
(Sep 10, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr14:57082666
GRCh38:
Chr14:56615948
TMEM260Q288fsStructural heart defects and renal anomalies syndromePathogenic
(May 2, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr14:57082682
GRCh38:
Chr14:56615964
TMEM260R293KInborn genetic diseasesLikely benign
(Jul 9, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr14:57083957
GRCh38:
Chr14:56617239
TMEM260S333Lnot providedUncertain significance
(Aug 18, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr14:57085325
GRCh38:
Chr14:56618607
TMEM260W357*not providedPathogenic
(Sep 28, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr14:57085347
GRCh38:
Chr14:56618629
TMEM260not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr14:57085490
GRCh38:
Chr14:56618772
TMEM260not providedLikely benign
(Feb 25, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr14:57088415
GRCh38:
Chr14:56621697
TMEM260Q465*not providedPathogenic
(Sep 2, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr14:57092111
GRCh38:
Chr14:56625393
TMEM260Y470*Structural heart defects and renal anomalies syndromePathogenic
(May 2, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr14:57092112
GRCh38:
Chr14:56625394
TMEM260E471KStructural heart defects and renal anomalies syndrome, not providedLikely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr14:57092142
GRCh38:
Chr14:56625424
TMEM260not providedLikely benign
(Oct 9, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr14:57092169
GRCh38:
Chr14:56625451
TMEM260R490WInborn genetic diseasesUncertain significance
(Aug 26, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr14:57092190
GRCh38:
Chr14:56625472
TMEM260I497VInborn genetic diseasesUncertain significance
(Dec 8, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr14:57099751
GRCh38:
Chr14:56633033
TMEM260D529GInborn genetic diseasesUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr14:57099808
GRCh38:
Chr14:56633090
TMEM260P549fsType I truncus arteriosusPathogenic
(Sep 10, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr14:57099836
GRCh38:
Chr14:56633118
TMEM260E557DInborn genetic diseasesUncertain significance
(Nov 7, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr14:57099853
GRCh38:
Chr14:56633135
TMEM260T563fsStructural heart defects and renal anomalies syndromeLikely pathogeniccriteria provided, single submitter
51.
GRCh37:
Chr14:57099859
GRCh38:
Chr14:56633141
TMEM260S565NStructural heart defects and renal anomalies syndromeBenign
(Sep 10, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr14:57099859-57099863
GRCh38:
Chr14:56633141-56633145
TMEM260S565fsStructural heart defects and renal anomalies syndromeLikely pathogenic
(Mar 17, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr14:57099860
GRCh38:
Chr14:56633142
TMEM260not providedLikely benign
(Jun 5, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr14:57099860-57099863
GRCh38:
Chr14:56633142-56633145
TMEM260Y567fsStructural heart defects and renal anomalies syndromePathogeniccriteria provided, single submitter
55.
GRCh37:
Chr14:57101636
GRCh38:
Chr14:56634918
TMEM260E582QStructural heart defects and renal anomalies syndromeLikely pathogenic
(Aug 16, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr14:57101682
GRCh38:
Chr14:56634964
TMEM260Structural heart defects and renal anomalies syndromeBenign
(Sep 10, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr14:57103222
GRCh38:
Chr14:56636504
TMEM260not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
58.
GRCh37:
Chr14:57103228
GRCh38:
Chr14:56636510
TMEM260M594TStructural heart defects and renal anomalies syndromeUncertain significance
(Oct 11, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr14:57103229-57103230
GRCh38:
Chr14:56636511-56636512
TMEM260F599*Structural heart defects and renal anomalies syndromePathogenic
(Sep 2, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr14:57103237
GRCh38:
Chr14:56636519
TMEM260P597LInborn genetic diseasesUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr14:57103301
GRCh38:
Chr14:56636583
TMEM260not providedLikely benign
(Dec 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr14:57103317
GRCh38:
Chr14:56636599
TMEM260Structural heart defects and renal anomalies syndromeLikely pathogenic
(Jul 6, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr14:57103317
GRCh38:
Chr14:56636599
TMEM260Structural heart defects and renal anomalies syndromeLikely pathogenic
(Jul 6, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr14:57113980
GRCh38:
Chr14:56647262
TMEM260Y630Cnot providedUncertain significance
(Aug 18, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr14:57113997
GRCh38:
Chr14:56647279
TMEM260P636TInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr14:57114027
GRCh38:
Chr14:56647309
TMEM260A646TInborn genetic diseasesUncertain significance
(Jul 20, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr14:57114045
GRCh38:
Chr14:56647327
TMEM260R652CInborn genetic diseasesUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr14:57114121
GRCh38:
Chr14:56647403
TMEM260K677TInborn genetic diseasesUncertain significance
(Dec 19, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr14:57114173-57114177
GRCh38:
Chr14:56647455-56647459
TMEM260K696fsStructural heart defects and renal anomalies syndromeLikely pathogenic
(Jul 1, 2019)
criteria provided, single submitter
70.
GRCh37:
Chr14:56811156-57163828
TMEM260not providedUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr14:37671058-106985955
ABCD4, ABHD12B, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADSS1, AHNAK2, AHSA1, AK7, AKAP5, AKT1, ALDH6A1, ALKBH1, AMN, ANGEL1, ANKRD9, AP5M1, AREL1, ARF6, ARG2, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BBOF1, BCL11B, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BTBD6, BTBD7, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, CALM1, CATSPERB, CCDC175, CCDC177, CCDC198, CCDC85C, CCDC88C, CCNK, CDC42BPB, CDCA4, CDKL1, CDKN3, CEP128, CEP170B, CGRRF1, CHGA, CHURC1, CHURC1-FNTB, CINP, CIPC, CKB, CLBA1, CLEC14A, CLMN, CNIH1, COA8, COQ6, COX16, COX8C, CPSF2, CRIP1, CRIP2, CYP46A1, DAAM1, DACT1, DCAF4, DCAF5, DDHD1, DDX24, DEGS2, DGLUCY, DHRS7, DICER1, DIO2, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DYNC1H1, EFCAB11, EIF2B2, EIF2S1, EIF5, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM181A, FANCM, FBLN5, FBXO33, FBXO34, FCF1, FERMT2, FKBP3, FLRT2, FLVCR2, FNTB, FOS, FOXA1, FOXN3, FRMD6, FSCB, FUT8, GALC, GALNT16, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR65, GPR68, GPX2, GSC, GSKIP, GSTZ1, GTF2A1, HEATR4, HHIPL1, HIF1A, HIF1A-AS2, HSP90AA1, HSPA2, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV3-23, INF2, IRF2BPL, ISCA2, ISM2, ITPK1, JAG2, JDP2, JKAMP, KCNH5, KCNK10, KCNK13, KIAA0586, KIF26A, KLC1, KLHDC1, KLHDC2, KLHL28, KTN1, L2HGDH, L3HYPDH, LGALS3, LGMN, LIN52, LINC01588, LINC01599, LINC02914, LRFN5, LRR1, LRRC74A, LTBP2, LYSET, MAP3K9, MAP4K5, MAPK1IP1L, MARK3, MAX, MDGA2, MED6, MEG3, MEG8, MGAT2, MIA2, MIDEAS, MIPOL1, MIR127, MIR134, MIR136, MIR203A, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR380, MIR409, MIR410, MIR431, MIR433, MIR487B, MIR495, MIS18BP1, MLH3, MNAT1, MOAP1, MOK, MTA1, MTHFD1, NAA30, NDUFB1, NEK9, NEMF, NGB, NID2, NIN, NOXRED1, NPC2, NRDE2, NUDT14, NUMB, OTUB2, OTX2, PACS2, PALS1, PAPLN, PAPOLA, PAPOLA-DT, PCNX1, PCNX4, PELI2, PGF, PIGH, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R36, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PROX2, PRPF39, PSEN1, PSMA3, PSMC1, PSMC6, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAD51B, RBM25, RCOR1, RD3L, RDH11, RDH12, RGS6, RHOJ, RIN3, RIOX1, RN7SL1, RN7SL2, RN7SL3, RPL10L, RPL36AL, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SAMD15, SAMD4A, SAV1, SEC23A, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SGPP1, SIPA1L1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC24A4, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A9, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNORD112, SNORD113-1, SNORD114-1, SNW1, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SRSF5, SSTR1, STON2, STYX, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEX22, TGFB3, TIMM9, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TRAF3, TRAPPC6B, TRIM9, TRIP11, TRMT5, TRMT61A, TSHR, TTC6, TTC7B, TTC8, TTC9, TTLL5, TXNDC16, UBR7, UNC79, VASH1, VCPKMT, VIPAS39, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF410, ZNF839
See casesPathogenicno assertion criteria provided
72.
GRCh37:
Chr14:56226305-57784632
AP5M1, EXOC5, OTX2, PELI2, TMEM260not specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr14:56816534-57163828
TMEM260not providedUncertain significance
(Mar 1, 2021)
no assertion criteria provided
74.
GRCh37:
Chr14:54654001-75828024
14q22.2q24.3 duplicationLikely pathogenic
(Nov 19, 2020)
no assertion criteria provided
75.
GRCh37:
Chr14:56916550-57111448
TMEM260not providedUncertain significance
(Oct 25, 2019)
no assertion criteria provided
76.
GRCh37:
Chr14:56605398-59404256
not providedPathogenic
(Oct 25, 2018)
no assertion criteria provided
77.
GRCh37:
Chr14:55615073-58043694
not providedPathogenic
(Feb 27, 2019)
no assertion criteria provided
78.
GRCh37:
Chr14:19327823-107287663
ATL1, ATP5MJ, ATP6V1D, COX8C, FCF1, IGHA2, IGHD, MIDEAS, MIPOL1, MIR208B, MIR127, MIR134, MIR136, MIR203A, MIR208A, IGHG4, IGHM, IGHV3-23, FERMT2, FKBP3, FITM1, FLRT2, FLVCR2, FNTB, FOS, FOXA1, GALC, GALNT16, GARIN2, GCH1, IGHD3-3, IPO4, IL25, INF2, INSM2, IGHE, IGHG1, IGHG2, CPNE6, CPSF2, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, C14orf28, BATF, BAZ1A, BBOF1, BCL11B, DAAM1, DCAF11, DCAF4, CRIP1, CRIP2, CTSG, CYP46A1, DACT1, DAD1, ABCD4, ABHD12B, IGHG3, ATXN3, BAG5, C14orf132, C14orf178, C14orf180, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf39, C14orf93, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC198, CCDC85C, CCDC88C, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CKB, CLBA1, CLEC14A, CLMN, CMA1, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, DCAF5, DDHD1, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, DHRS7, DTD2, DICER1, DIO2, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGLN3, EIF2B2, EIF2S1, EIF5, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FANCM, FBLN5, FBXO33, FBXO34, FOXG1, FOXN3, FRMD6, FSCB, FUT8, G2E3, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSKIP, GSTZ1, GTF2A1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HECTD1, HHIPL1, HIF1A, HIF1A-AS2, HNRNPC, HOMEZ, HSP90AA1, HSPA2, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, JAG2, JDP2, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, L2HGDH, L3HYPDH, LGALS3, LGMN, LIN52, LINC01588, LINC01599, LINC02914, LOC101929572, LRFN5, LRP10, LRR1, LRRC74A, LTB4R, LTB4R2, LTBP2, LYSET, MAP3K9, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, METTL17, METTL3, MGAT2, MIA2, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR380, MIR409, MIR410, MIR431, MIR433, MIR487B, MIR495, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-8, NOP9, NOVA1, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NUBPL, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H12, OR11H2, OR11H4, OR11H6, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4K2, OR4K5, OR4L1, OR4M1, OR4N2, OR4N5, OR4Q3, OR5AU1, OR6S1, OSGEP, OTUB2, OTX2, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPOLA, PAPOLA-DT, PARP2, PAX9, PCK2, PCNX1, PCNX4, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, POTEG, POTEM, PPM1A, PPP1R13B, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PRKD1, PRMT5, PRORP, PROX2, PRPF39, PSEN1, PSMA3, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, RCOR1, RD3L, RDH11, RDH12, REC8, REM2, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SAMD15, SAMD4A, SAV1, SCFD1, SDR39U1, SEC23A, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC24A4, SLC25A21, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNORD112, SNORD113-1, SNORD114-1, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SPTSSA, SRP54, SRSF5, SSTR1, STON2, STRN3, STXBP6, STYX, SUPT16H, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEP1, TEX22, TGFB3, TGM1, THTPA, TIMM9, TINF2, TM9SF1, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOX4, TPPP2, TRA, TRAF3, TRAPPC6B, TRIM9, TRIP11, TRL-AAG2-3, TRMT5, TRMT61A, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC8, TTC9, TTLL5, TXNDC16, UBR7, UNC79, VASH1, VCPKMT, VIPAS39, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839
not providedPathogenic
(Oct 31, 2014)
no assertion criteria provided
79.
GRCh37:
Chr14:19280733-107287663
RBM23, RBM25, SERPINA6, TECPR2, XRCC3, YLPM1, YY1, ZNF839, ZBTB42, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM253, ZBTB1, ZBTB25, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, SERPINA9, SETD3, SLC35F4, SLC24A4, SLC25A21, SLC25A29, SLC25A47, SFTA3, SGPP1, SIPA1L1, SIVA1, TEDC1, TEP1, TEX22, TMEM260, TGFB3, TGM1, THTPA, TIMM9, TINF2, RCOR1, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RD3L, RDH11, RDH12, REC8, REM2, TM9SF1, PSMA3, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SAMD15, SAMD4A, SAV1, SCFD1, SDR39U1, SEC23A, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNORD112, SNORD113-1, SNORD114-1, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SPTSSA, SRP54, SRSF5, SSTR1, STON2, STRN3, STXBP6, STYX, SUPT16H, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOX4, TPPP2, TRA, TRAF3, TRAPPC6B, TRIM9, TRIP11, TRL-AAG2-3, TRMT5, TRMT61A, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC8, TTC9, TTLL5, TXNDC16, UBR7, UNC79, VASH1, VCPKMT, VIPAS39, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC198, CCDC85C, CCDC88C, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CKB, CLBA1, CLEC14A, CLMN, CMA1, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, COX8C, CPNE6, CPSF2, CRIP1, CRIP2, CTSG, CYP46A1, DAAM1, DACT1, DAD1, DCAF11, DCAF4, DCAF5, DDHD1, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, DHRS7, DICER1, DIO2, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DTD2, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGLN3, EIF2B2, EIF2S1, EIF5, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FANCM, FBLN5, FBXO33, FBXO34, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLVCR2, FNTB, FOS, FOXA1, FOXG1, FOXN3, FRMD6, FSCB, FUT8, G2E3, GALC, GALNT16, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSKIP, GSTZ1, GTF2A1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HECTD1, HHIPL1, HIF1A, HIF1A-AS2, HNRNPC, HOMEZ, HSP90AA1, HSPA2, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV3-23, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, JAG2, JDP2, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, L2HGDH, L3HYPDH, LGALS3, LGMN, LIN52, LINC01588, LINC01599, LINC02914, LOC101929572, LRFN5, LRP10, LRR1, LRRC74A, LTB4R, LTB4R2, LTBP2, LYSET, MAP3K9, MAP4K5, MAPK1IP1L, MARK3, MIDEAS, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, METTL17, METTL3, MGAT2, MIA2, MIPOL1, MIR127, MIR134, MIR136, MIR203A, MIR208A, MIR208B, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR380, MIR409, MIR410, MIR431, MIR433, MIR487B, MIR495, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-8, NOP9, NOVA1, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NUBPL, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H12, OR11H2, OR11H4, OR11H6, OR4E2, OR4K1, OR4K13,