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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:20511673-107285437
GRCh38:
Chr14:20043514-106877229
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, 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, 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, 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, EIF5-DT, 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, 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, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101927702, LOC101928143, LOC101928817, LOC101929107, LOC101929718, LOC102723604, LOC105370457, LOC105370473, LOC105370489, LOC105370525, LOC105370579, LOC105370586, LOC105370589, LOC105370616, LOC105370619, LOC105370622, LOC105370670, LOC105370689, 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, 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, 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
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
2.
GRCh37:
Chr14:20619308-107263478
GRCh38:
Chr14:20151149-106855263
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, 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, 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, EIF5-DT, 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, 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, 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, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101927702, LOC101928143, LOC101928817, LOC101929107, LOC101929718, LOC102723604, LOC105370457, LOC105370473, LOC105370489, LOC105370525, LOC105370579, LOC105370586, LOC105370589, LOC105370616, LOC105370619, LOC105370622, LOC105370670, LOC105370689, 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, 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, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR548H1, MIR548Y, MIR5580, MIR5586, MIR5694, MIR6076, MIR624, MIR625, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6717, MIR6764, MIR6765, MIR758, 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, 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
See casesPathogenic
(Jan 14, 2011)
no assertion criteria provided
3.
GRCh37:
Chr14:70028816-82441728
GRCh38:
Chr14:69562099-81975384
SNORA79, SNORD169, SNORD56B, SNW1, SPTLC2, SRSF5, STON2, SUSD6, SYNDIG1L, SYNJ2BP, SYNJ2BP-COX16, TGFB3, TMED10, TMED8, TMEM63C, TRC-GCA8-1, TSHR, TTC9, TTC9-DT, TTLL5, VASH1, VASH1-AS1, VIPAS39, VRTN, VSX2, YLPM1, ZC2HC1C, ZDHHC22, ZFYVE1, ZNF410, ABCD4, ACOT1, ACOT2, ACOT4, ACOT6, ACYP1, ADAM20, ADAM21, ADCK1, AHSA1, ALDH6A1, ALKBH1, ANGEL1, AREL1, BATF, BBOF1, C14orf178, CCDC177, CEP128, CIPC, COQ6, COX16, DCAF4, DIO2, DIO2-AS1, DLST, DNAL1, DPF3, EIF2B2, ENTPD5, ERG28, ESRRB, FAM161B, FCF1, FLVCR2, FLVCR2-AS1, FOS, GPATCH2L, GSTZ1, GTF2A1, GTF2A1-AS1, HEATR4, IFT43, IRF2BPL, ISCA2, ISM2, JDP2, JDP2-AS1, LIN52, LINC01220, LINC01269, LINC01467, LINC01629, LINC02274, LINC02288, LINC02289, LINC02308, LINC02311, LOC100289511, LOC100506358, LOC101928143, LOC105370579, LOC105370586, LOC105370589, LOC108251794, LOC110121354, LOC110121372, LOC110121376, LOC110121422, LOC110121459, LOC110121490, LOC111413013, LOC111556149, LOC111591503, LOC111811966, LOC111822947, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC113939940, LOC116268459, LOC121529652, LOC121529653, LOC121838597, LOC121838598, LOC125048430, LOC125048431, LOC125048432, LOC125048433, LOC125048434, LOC125048435, LOC125048436, LOC125048437, LOC125048439, LOC125048440, LOC125048441, LOC125048442, LOC125048444, LOC125048445, LOC125048446, LOC125048447, LOC125048449, LOC125048450, LOC125048451, LOC125048452, LOC125048453, 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, LOC145474, LRRC74A, LTBP2, MAP3K9, MAP3K9-DT, MED6, MIDEAS, MIDEAS-AS1, MIR1260A, MIR4505, MIR4709, MIR7843, MLH3, NEK9, NGB, NOXRED1, NPC2, NRXN3, NUMB, PAPLN, PAPLN-AS1, PCNX1, PGF, PNMA1, POMT2, PROX2, PSEN1, PTGR2, RBM25, RBM25-AS1, RGS6, RIOX1, RPS6KL1, SAMD15, SEL1L, SIPA1L1, SIPA1L1-AS1, SLC10A1, SLC8A3, SLIRP, SMOC1
See casesPathogenic
(Aug 19, 2010)
no assertion criteria provided
4.
GRCh37:
Chr14:73809921-79301402
GRCh38:
Chr14:73343213-78835059
See casesLikely pathogenic
(Apr 4, 2013)
no assertion criteria provided
5.
GRCh37:
Chr14:74122475-107287505
GRCh38:
Chr14:73655772-106879298
MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR2392, MIR299, MIR300, 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, MIR4309, MIR431, MIR432, MIR433, MIR4505, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4709, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6764, MIR6765, MIR758, MIR770, MIR8071-1, MIR8071-2, MIR889, MLH3, MOAP1, MOK, MTA1, MTA1-DT, NDUFB1, NEK9, NGB, NOXRED1, NPC2, NRDE2, NRXN3, NUDT14, OTUB2, PACS2, PAPOLA, PAPOLA-DT, PGF, PLD4, PNMA1, POMT2, PPP1R13B, PPP1R13B-DT, PPP2R5C, PPP4R3A, PPP4R4, PRIMA1, PROX2, PSMC1, PTGR2, PTPN21, RCOR1, RD3L, RIN3, RPS6KA5, RPS6KL1, RTL1, SAMD15, SCARNA13, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SIVA1, SLC24A4, SLC25A29, SLC25A47, SLIRP, SNHG10, SNORA11B, SNORA28, SNORA79, 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, SNORD3P3, SNW1, SPATA7, SPTLC2, STON2, SYNDIG1L, SYNE3, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEX22, TGFB3, TMED10, TMED8, TMEM121, TMEM179, TMEM63C, TNFAIP2, TRA-AGC15-1, TRAF3, TRI-AAT5-4, TRIP11, TRMT61A, TSHR, TTC7B, TTC7B-AS1, TTC8, TTLL5, TUNAR, UBR7, UNC79, VASH1, VASH1-AS1, VIPAS39, VRK1, VRTN, VSX2, WARS1, WDR20, WDR25, XRCC3, YLPM1, YY1, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFYVE21, ZNF410, ZNF839, ABCD4, ACYP1, ADCK1, ADSS1, AHNAK2, AHSA1, AK7, AKT1, ALDH6A1, ALKBH1, AMN, ANGEL1, ANKRD9, AREL1, ASB2, ASPG, ATG2B, ATP5MJ, ATXN3, BAG5, BATF, BBOF1, BCL11B, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, BTBD7, C14orf132, C14orf178, C14orf180, CALM1, CATSPERB, CCDC197, CCDC85C, CCDC88C, CCDC88C-DT, CCNK, CDC42BPB, CDCA4, CEP128, CEP170B, CHGA, CINP, CIPC, CKB, CLBA1, CLMN, COA8, COQ6, COX8C, CPSF2, CRIP1, CRIP2, CYP46A1, DDX24, DEGS2, DGLUCY, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLK1, DLST, DNAL1, DYNC1H1, EFCAB11, EIF2B2, EIF5, EIF5-DT, EML1, EML5, ENTPD5, ERG28, ESRRB, EVL, EXOC3L4, FAM161B, FAM181A, FAM181A-AS1, FAM30A, FBLN5, FCF1, FLRT2, FLRT2-AS1, FLVCR2, FLVCR2-AS1, FOS, FOXN3, FOXN3-AS1, FOXN3-AS2, GALC, GLRX5, GOLGA5, GON7, GPATCH2L, GPR132, GPR65, GPR68, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, HHIPL1, HISLA, HSP90AA1, 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, INF2, IRF2BPL, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, KCNK10, KCNK13, KIF26A, KIF26A-DT, KLC1, LBHD2, LGMN, LIN52, LINC00221, LINC00226, LINC00239, LINC00523, LINC00524, LINC00605, LINC00618, LINC00638, LINC00642, LINC00677, LINC00911, LINC01147, LINC01148, LINC01220, LINC01467, LINC01550, LINC01629, LINC02274, LINC02280, LINC02285, LINC02287, LINC02288, LINC02289, LINC02291, LINC02292, LINC02295, LINC02296, LINC02298, LINC02299, LINC02301, LINC02304, LINC02305, LINC02308, LINC02309, LINC02311, LINC02312, LINC02314, LINC02316, LINC02317, LINC02318, LINC02320, LINC02321, LINC02323, LINC02325, LINC02328, LINC02329, LINC02330, LINC02691, LINC02833, LINC02914, LOC101928817, LOC101929107, LOC105370579, LOC105370586, LOC105370589, LOC105370616, LOC105370619, LOC105370622, LOC105370670, LOC105370689, LOC105370697, LOC105378183, LOC107984703, LOC108251794, LOC108348026, LOC108663987, LOC110120910, LOC110121354, LOC110121372, LOC110121376, LOC110121377, LOC110121422, LOC110121459, LOC110121463, LOC110121490, LOC111413013, LOC111413041, LOC111556149, LOC111591503, LOC111721711, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, 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, 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, LRRC74A, LTBP2, LYSET, MARK3, MEG3, MEG8, MEG9, MIDEAS, MIDEAS-AS1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121
See casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
6.
GRCh37:
Chr14:74343775-78508765
GRCh38:
Chr14:73877072-78042422
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr14:75452898-76865601
GRCh38:
Chr14:74986195-76399258
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
8.
GRCh37:
Chr14:75955395-80076675
GRCh38:
Chr14:75489052-79610332
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr14:76785694-77311061
GRCh38:
Chr14:76319351-76844718
ANGEL1, ESRRB, LOC121529653, LOC125048445, LOC125048446, LRRC74A, VASH1, VASH1-AS1See casesLikely benign
(Nov 30, 2010)
no assertion criteria provided
10.
GRCh37:
Chr14:76837692
GRCh38:
Chr14:76371349
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr14:76837737
GRCh38:
Chr14:76371394
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr14:76837761
GRCh38:
Chr14:76371418
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr14:76837769
GRCh38:
Chr14:76371426
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr14:76837825
GRCh38:
Chr14:76371482
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr14:76837850
GRCh38:
Chr14:76371507
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr14:76837870
GRCh38:
Chr14:76371527
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr14:76870757
GRCh38:
Chr14:76404414
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr14:76870762
GRCh38:
Chr14:76404419
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr14:76870799
GRCh38:
Chr14:76404456
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Mar 2, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr14:76905379
GRCh38:
Chr14:76439036
ESRRBnot providedLikely benign
(Dec 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr14:76905666
GRCh38:
Chr14:76439323
ESRRBnot providedLikely benign
(Jun 17, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr14:76905697-76967064
GRCh38:
Chr14:76439354-76500721
ESRRBRare genetic deafnessLikely pathogenic
(Jun 23, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr14:76905699
GRCh38:
Chr14:76439356
ESRRBM1I, M22IPremature ovarian insufficiencyUncertain significance
(Jan 10, 2018)
no assertion criteria provided
24.
GRCh37:
Chr14:76905708
GRCh38:
Chr14:76439365
ESRRBD4E, D25Enot providedUncertain significance
(Jul 11, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr14:76905712
GRCh38:
Chr14:76439369
ESRRBR6G, R27Gnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr14:76905771
GRCh38:
Chr14:76439428
ESRRBnot providedLikely benign
(Feb 21, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr14:76905777
GRCh38:
Chr14:76439434
ESRRBnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr14:76905810
GRCh38:
Chr14:76439467
ESRRBnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Jul 6, 2022)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr14:76905817
GRCh38:
Chr14:76439474
ESRRBA62T, A41TInborn genetic diseases, not providedUncertain significance
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr14:76905823
GRCh38:
Chr14:76439480
ESRRBG43S, G64Snot provided, Autosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr14:76905837
GRCh38:
Chr14:76439494
ESRRBnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Benign/Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr14:76905839
GRCh38:
Chr14:76439496
ESRRBA48V, A69Vnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr14:76905854
GRCh38:
Chr14:76439511
ESRRBA53V, A58V, A74VInborn genetic diseasesUncertain significance
(Nov 15, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr14:76905859
GRCh38:
Chr14:76439516
ESRRBG76C, G55C, G60CInborn genetic diseasesUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr14:76905859
GRCh38:
Chr14:76439516
ESRRBG55S, G76SAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr14:76905862
GRCh38:
Chr14:76439519
ESRRBL56V, L61V, L77VInborn genetic diseasesUncertain significance
(Mar 14, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr14:76905862
GRCh38:
Chr14:76439519
ESRRBL56M, L77Mnot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr14:76905893
GRCh38:
Chr14:76439550
ESRRBG66E, G87EAutosomal recessive nonsyndromic hearing loss 35, Inborn genetic diseasesUncertain significance
(Apr 28, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr14:76905911
GRCh38:
Chr14:76439568
ESRRBC77Y, C72Y, C93Ynot provided, Inborn genetic diseasesUncertain significance
(Aug 11, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr14:76905925
GRCh38:
Chr14:76439582
ESRRBE77K, E98KAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr14:76905935
GRCh38:
Chr14:76439592
ESRRBA80V, A101Vnot specified, Autosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr14:76905939
GRCh38:
Chr14:76439596
ESRRBnot providedLikely benign
(Mar 10, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr14:76905940
GRCh38:
Chr14:76439597
ESRRBG103R, G82Rnot provided, Inborn genetic diseasesUncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr14:76905945
GRCh38:
Chr14:76439602
ESRRBnot specifiedLikely benign
(Jul 21, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr14:76905973
GRCh38:
Chr14:76439630
ESRRBY114H, Y93H, Y98Hnot providedUncertain significance
(Dec 23, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr14:76906009
GRCh38:
Chr14:76439666
ESRRBV126L, V105L, V110Lnot providedUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr14:76906011
GRCh38:
Chr14:76439668
ESRRBnot specifiedLikely benign
(Feb 26, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr14:76906025
GRCh38:
Chr14:76439682
ESRRBA110V, A131VAutosomal recessive nonsyndromic hearing loss 35Pathogenic
(Jan 1, 2008)
no assertion criteria provided
49.
GRCh37:
Chr14:76906047
GRCh38:
Chr14:76439704
ESRRBnot specified, not providedConflicting interpretations of pathogenicity
(May 20, 2015)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr14:76906097
GRCh38:
Chr14:76439754
ESRRBnot specifiedLikely benign
(Sep 7, 2013)
criteria provided, single submitter
51.
GRCh37:
Chr14:76906098
GRCh38:
Chr14:76439755
ESRRBnot specifiedUncertain significance
(Mar 31, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr14:76906149
GRCh38:
Chr14:76439806
ESRRBnot providedBenign
(Jun 16, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr14:76906157
GRCh38:
Chr14:76439814
ESRRBnot providedBenign
(Jun 24, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr14:76906193
GRCh38:
Chr14:76439850
ESRRBnot providedBenign
(Jun 16, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr14:76928625
GRCh38:
Chr14:76462282
ESRRBnot providedBenign
(Nov 11, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr14:76928639
GRCh38:
Chr14:76462296
ESRRBnot providedLikely benign
(Jan 25, 2019)
criteria provided, single submitter
57.
GRCh37:
Chr14:76928674
GRCh38:
Chr14:76462331
ESRRBnot providedBenign
(Nov 11, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr14:76928730
GRCh38:
Chr14:76462387
ESRRBnot providedBenign
(Nov 11, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr14:76928772
GRCh38:
Chr14:76462429
ESRRBnot providedBenign
(Nov 11, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr14:76928773
GRCh38:
Chr14:76462430
ESRRBnot providedLikely benign
(Feb 9, 2019)
criteria provided, single submitter
61.
GRCh37:
Chr14:76928776
GRCh38:
Chr14:76462433
ESRRBnot providedBenign
(Dec 10, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr14:76928907
GRCh38:
Chr14:76462564
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr14:76928909
GRCh38:
Chr14:76462566
ESRRBP161L, P145L, P140LInborn genetic diseasesUncertain significance
(Jun 12, 2023)
criteria provided, single submitter
64.
GRCh37:
Chr14:76928910
GRCh38:
Chr14:76462567
ESRRBnot provided, not specifiedLikely benign
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr14:76928919
GRCh38:
Chr14:76462576
ESRRBnot specifiedLikely benign
(Mar 28, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr14:76928925
GRCh38:
Chr14:76462582
ESRRBC150*, C145*, C166*not providedPathogenic
(Aug 22, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr14:76928944
GRCh38:
Chr14:76462601
ESRRBR152C, R157C, R173Cnot providedUncertain significance
(Mar 17, 2023)
criteria provided, single submitter
68.
GRCh37:
Chr14:76928960
GRCh38:
Chr14:76462617
ESRRBA157V, A178Vnot specifiedUncertain significance
(Jul 25, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr14:76928965
GRCh38:
Chr14:76462622
ESRRBR159C, R180Cnot specified, not providedUncertain significance
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr14:76928966
GRCh38:
Chr14:76462623
ESRRBR159H, R180H, R164Hnot providedUncertain significance
(Feb 27, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr14:76928985
GRCh38:
Chr14:76462642
ESRRBnot providedUncertain significance
(Feb 1, 2023)
criteria provided, single submitter
72.
GRCh37:
Chr14:76928989
GRCh38:
Chr14:76462646
ESRRBG167R, G188RAutosomal recessive nonsyndromic hearing loss 35Pathogenicno assertion criteria provided
73.
GRCh37:
Chr14:76929019
GRCh38:
Chr14:76462676
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr14:76929025
GRCh38:
Chr14:76462682
ESRRBnot providedBenign
(Jun 16, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr14:76929035
GRCh38:
Chr14:76462692
ESRRBnot providedLikely benign
(Jan 9, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr14:76929049
GRCh38:
Chr14:76462706
ESRRBnot providedLikely benign
(Jun 25, 2020)
criteria provided, single submitter
77.
GRCh37:
Chr14:76948262-76948263
GRCh38:
Chr14:76481919-76481920
ESRRBnot providedBenign
(Aug 25, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr14:76948350
GRCh38:
Chr14:76482007
ESRRBnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr14:76948355
GRCh38:
Chr14:76482012
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr14:76948364
GRCh38:
Chr14:76482021
ESRRBR174C, R195CAutosomal recessive nonsyndromic hearing loss 35Likely pathogenic
(Oct 19, 2020)
criteria provided, single submitter
81.
GRCh37:
Chr14:76948379
GRCh38:
Chr14:76482036
ESRRBR179C, R184C, R200Cnot providedUncertain significance
(May 18, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr14:76948380
GRCh38:
Chr14:76482037
ESRRBR200H, R179Hnot specifiedUncertain significance
(May 22, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr14:76948389
GRCh38:
Chr14:76482046
ESRRBR182H, R203HAutosomal recessive nonsyndromic hearing loss 35Pathogenic
(Jun 4, 2016)
no assertion criteria provided
84.
GRCh37:
Chr14:76948402
GRCh38:
Chr14:76482059
ESRRBnot providedLikely benign
(Sep 7, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr14:76948404
GRCh38:
Chr14:76482061
ESRRBR187Q, R208QInborn genetic diseases, not providedUncertain significance
(Jan 7, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr14:76948406
GRCh38:
Chr14:76482063
ESRRBR209W, R188WInborn genetic diseases, not providedUncertain significance
(May 25, 2023)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr14:76948407
GRCh38:
Chr14:76482064
ESRRBR188Q, R209Qnot specifiedUncertain significance
(Nov 6, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr14:76948440
GRCh38:
Chr14:76482097
ESRRBL199S, L220Snot specified, Autosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr14:76948465
GRCh38:
Chr14:76482122
ESRRBnot providedLikely benign
(Jun 12, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr14:76948482
GRCh38:
Chr14:76482139
ESRRBnot providedLikely benign
(Jan 19, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr14:76948486
GRCh38:
Chr14:76482143
ESRRBnot providedLikely benign
(Oct 29, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr14:76948862
GRCh38:
Chr14:76482519
ESRRBnot providedBenign
(Jun 22, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr14:76948931
GRCh38:
Chr14:76482588
ESRRBnot specified, Autosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr14:76948978
GRCh38:
Chr14:76482635
ESRRBnot specifiedLikely benign
(Sep 28, 2013)
criteria provided, single submitter
95.
GRCh37:
Chr14:76948990
GRCh38:
Chr14:76482647
ESRRBY225*, Y230*, Y246*not providedLikely pathogenic
(Feb 1, 2023)
criteria provided, single submitter
96.
GRCh37:
Chr14:76948994
GRCh38:
Chr14:76482651
ESRRBM248V, M227Vnot providedUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr14:76949004
GRCh38:
Chr14:76482661
ESRRBP230R, P235R, P251RInborn genetic diseasesUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr14:76949017
GRCh38:
Chr14:76482674
ESRRBnot provided, not specified, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr14:76949047
GRCh38:
Chr14:76482704
ESRRBnot providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr14:76949048
GRCh38:
Chr14:76482705
ESRRBD245H, D266HAutosomal recessive nonsyndromic hearing loss 35Uncertain significancecriteria provided, single submitter
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