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Items: 58

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:20511673-107285437
GRCh38:
Chr14:20043514-106877229
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, 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, 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, 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, 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
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
2.
GRCh37:
Chr14:20619308-107263478
GRCh38:
Chr14:20151149-106855263
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, 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, 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, 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, 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, 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
See casesPathogenic
(Jan 14, 2011)
no assertion criteria provided
3.
GRCh37:
Chr14:74122475-107287505
GRCh38:
Chr14:73655772-106879298
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, C14orf99, 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, 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, LINC00341, 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, LOC105370579, LOC105370586, LOC105370619, LOC105370622, LOC105370687, 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, LRRC74A, LTBP2, MARK3, MEG3, MEG8, MEG9, MIDEAS, MIDEAS-AS1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, 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, MIR7641-2, 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, SNHG23, SNHG24, 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, TMEM251, 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
See casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
4.
GRCh37:
Chr14:77689138-107287505
GRCh38:
Chr14:77222795-106879298
ADCK1, ADSS1, AHNAK2, AHSA1, AK7, AKT1, ALKBH1, AMN, ANKRD9, ASB2, ASPG, ATG2B, ATP5MJ, ATXN3, BAG5, BCL11B, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, BTBD7, C14orf132, C14orf178, C14orf180, C14orf99, CALM1, CATSPERB, CCDC197, CCDC85C, CCDC88C, CCDC88C-DT, CCNK, CDC42BPB, CDCA4, CEP128, CEP170B, CHGA, CINP, CKB, CLBA1, CLMN, COA8, COX8C, CPSF2, CRIP1, CRIP2, CYP46A1, DDX24, DEGS2, DGLUCY, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLK1, DYNC1H1, EFCAB11, EIF5, EML1, EML5, EVL, EXOC3L4, FAM181A, FAM181A-AS1, FAM30A, FBLN5, FLRT2, FLRT2-AS1, FOXN3, FOXN3-AS1, FOXN3-AS2, GALC, GLRX5, GOLGA5, GON7, GPR132, GPR65, GPR68, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, HHIPL1, HISLA, HSP90AA1, IFI27, IFI27L1, IFI27L2, 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, ISM2, ITPK1, ITPK1-AS1, JAG2, KCNK10, KCNK13, KIF26A, KIF26A-DT, KLC1, LBHD2, LGMN, LINC00221, LINC00226, LINC00239, LINC00341, LINC00523, LINC00524, LINC00605, LINC00618, LINC00638, LINC00642, LINC00677, LINC00911, LINC01147, LINC01148, LINC01467, LINC01550, LINC02280, LINC02285, LINC02287, 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, LOC105370586, LOC105370619, LOC105370622, LOC105370687, LOC105370697, LOC105378183, LOC107984703, LOC108251794, LOC108348026, LOC108663987, LOC110120910, LOC110121354, LOC110121377, LOC110121463, LOC111413041, LOC111556149, LOC111591503, LOC111721711, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939941, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, MARK3, MEG3, MEG8, MEG9, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, 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, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, 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, MOAP1, MOK, MTA1, MTA1-DT, NDUFB1, NGB, NOXRED1, NRDE2, NRXN3, NUDT14, OTUB2, PACS2, PAPOLA, PAPOLA-DT, PLD4, POMT2, PPP1R13B, PPP1R13B-DT, PPP2R5C, PPP4R3A, PPP4R4, PRIMA1, PSMC1, PTPN21, RCOR1, RD3L, RIN3, RPS6KA5, RTL1, SAMD15, SCARNA13, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SIVA1, SLC24A4, SLC25A29, SLC25A47, SLIRP, SNHG10, SNHG23, SNHG24, 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, SYNE3, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEX22, TMED8, TMEM121, TMEM179, TMEM251, TMEM63C, TNFAIP2, TRA-AGC15-1, TRAF3, TRI-AAT5-4, TRIP11, TRMT61A, TSHR, TTC7B, TTC7B-AS1, TTC8, TUNAR, UBR7, UNC79, VIPAS39, VRK1, WARS1, WDR20, WDR25, XRCC3, YY1, ZBTB42, ZC3H14, ZFYVE21, ZNF839
See casesPathogenic
(Apr 5, 2012)
no assertion criteria provided
5.
GRCh37:
Chr14:86560374-107240869
GRCh38:
Chr14:86094030-106832642
ADSS1, AHNAK2, AK7, AKT1, AMN, ANKRD9, ASB2, ASPG, ATG2B, ATP5MJ, ATXN3, BAG5, BCL11B, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, BTBD7, C14orf132, C14orf180, C14orf99, CALM1, CATSPERB, CCDC197, CCDC85C, CCDC88C, CCDC88C-DT, CCNK, CDC42BPB, CDCA4, CEP170B, CHGA, CINP, CKB, CLBA1, CLMN, COA8, COX8C, CPSF2, CRIP1, CRIP2, CYP46A1, DDX24, DEGS2, DGLUCY, DICER1, DICER1-AS1, DIO3, DIO3OS, DLK1, DYNC1H1, EFCAB11, EIF5, EML1, EML5, EVL, EXOC3L4, FAM181A, FAM181A-AS1, FAM30A, FBLN5, FOXN3, FOXN3-AS1, FOXN3-AS2, GALC, GLRX5, GOLGA5, GON7, GPR132, GPR65, GPR68, GSC, GSC-DT, GSKIP, HHIPL1, HISLA, HSP90AA1, IFI27, IFI27L1, IFI27L2, 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, INF2, ITPK1, ITPK1-AS1, JAG2, KCNK10, KCNK13, KIF26A, KIF26A-DT, KLC1, LBHD2, LGMN, LINC00221, LINC00226, LINC00239, LINC00341, LINC00523, LINC00524, LINC00605, LINC00618, LINC00638, LINC00642, LINC00677, LINC01147, LINC01148, LINC01550, LINC02280, LINC02285, LINC02287, LINC02291, LINC02292, LINC02295, LINC02296, LINC02298, LINC02299, LINC02304, LINC02309, LINC02312, LINC02314, LINC02317, LINC02318, LINC02320, LINC02321, LINC02323, LINC02325, LINC02328, LINC02330, LINC02691, LINC02833, LINC02914, LOC105370619, LOC105370622, LOC105370687, LOC105370697, LOC105378183, LOC107984703, LOC108348026, LOC108663987, LOC110120910, LOC110121377, LOC110121463, LOC111413041, LOC111721711, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939941, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838599, LOC121838600, LOC121838601, LOC121838602, MARK3, MEG3, MEG8, MEG9, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, 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, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR539, MIR541, MIR543, MIR544A, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6764, MIR6765, MIR758, MIR770, MIR8071-1, MIR8071-2, MIR889, MOAP1, MOK, MTA1, MTA1-DT, NDUFB1, NRDE2, NUDT14, OTUB2, PACS2, PAPOLA, PAPOLA-DT, PLD4, PPP1R13B, PPP1R13B-DT, PPP2R5C, PPP4R3A, PPP4R4, PRIMA1, PSMC1, PTPN21, RCOR1, RD3L, RIN3, RPS6KA5, RTL1, SCARNA13, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SIVA1, SLC24A4, SLC25A29, SLC25A47, SNHG10, SNHG23, SNHG24, SNORA11B, SNORA28, 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, SPATA7, SYNE3, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEX22, TMEM121, TMEM179, TMEM251, TNFAIP2, TRA-AGC15-1, TRAF3, TRI-AAT5-4, TRIP11, TRMT61A, TTC7B, TTC7B-AS1, TTC8, TUNAR, UBR7, UNC79, VRK1, WARS1, WDR20, WDR25, XRCC3, YY1, ZBTB42, ZC3H14, ZFYVE21, ZNF839
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr14:90721500-95741033
GRCh38:
Chr14:90255156-95274696
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr14:91922205-107240869
GRCh38:
Chr14:91455861-106832642
ADSS1, AHNAK2, AK7, AKT1, AMN, ANKRD9, ASB2, ASPG, ATG2B, ATP5MJ, ATXN3, BAG5, BCL11B, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, BTBD7, C14orf132, C14orf180, C14orf99, CATSPERB, CCDC197, CCDC85C, CCNK, CDC42BPB, CDCA4, CEP170B, CHGA, CINP, CKB, CLBA1, CLMN, COA8, COX8C, CPSF2, CRIP1, CRIP2, CYP46A1, DDX24, DEGS2, DICER1, DICER1-AS1, DIO3, DIO3OS, DLK1, DYNC1H1, EIF5, EML1, EVL, EXOC3L4, FAM181A, FAM181A-AS1, FAM30A, FBLN5, GLRX5, GOLGA5, GON7, GPR132, GSC, GSC-DT, GSKIP, HHIPL1, HSP90AA1, IFI27, IFI27L1, IFI27L2, 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, INF2, ITPK1, ITPK1-AS1, JAG2, KIF26A, KIF26A-DT, KLC1, LBHD2, LGMN, LINC00221, LINC00226, LINC00239, LINC00341, LINC00523, LINC00524, LINC00605, LINC00618, LINC00638, LINC00677, LINC01550, LINC02280, LINC02285, LINC02287, LINC02291, LINC02292, LINC02295, LINC02298, LINC02299, LINC02304, LINC02312, LINC02314, LINC02318, LINC02320, LINC02323, LINC02325, LINC02691, LINC02833, LINC02914, LOC105370687, LOC105370697, LOC105378183, LOC107984703, LOC108348026, LOC108663987, LOC110120910, LOC110121377, LOC110121463, LOC111413041, LOC111721711, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC116268462, LOC116268463, LOC116268464, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838600, LOC121838601, LOC121838602, MARK3, MEG3, MEG8, MEG9, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, 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, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR539, MIR541, MIR543, MIR544A, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6764, MIR6765, MIR758, MIR770, MIR8071-1, MIR8071-2, MIR889, MOAP1, MOK, MTA1, MTA1-DT, NDUFB1, NUDT14, OTUB2, PACS2, PAPOLA, PAPOLA-DT, PLD4, PPP1R13B, PPP1R13B-DT, PPP2R5C, PPP4R3A, PPP4R4, PRIMA1, RCOR1, RD3L, RIN3, RTL1, SCARNA13, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SIVA1, SLC24A4, SLC25A29, SLC25A47, SNHG10, SNHG23, SNHG24, SNORA28, 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, SYNE3, TC2N, TCL1A, TCL1B, TCL6, TDRD9, TECPR2, TEDC1, TEX22, TMEM121, TMEM179, TMEM251, TNFAIP2, TRAF3, TRI-AAT5-4, TRIP11, TRMT61A, TUNAR, UBR7, UNC79, VRK1, WARS1, WDR20, WDR25, XRCC3, YY1, ZBTB42, ZFYVE21, ZNF839
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr14:92530677
GRCh38:
Chr14:92064333
ATXN3E117G, E303G, E237G, E288G, E307G, E358G, E179G, E343GInborn genetic diseasesUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr14:92530690
GRCh38:
Chr14:92064346
ATXN3D113Y, D284Y, D299Y, D303Y, D175Y, D233Y, D339Y, D354YInborn genetic diseasesUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr14:92537323
GRCh38:
Chr14:92070979
ATXN3C137Y, C195Y, C246Y, C301Y, M103I, M33I, M48I, M88I, C261Y, C316Y, C265Y, C75Y, M154IInborn genetic diseasesUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr14:92537353-92537354
GRCh38:
Chr14:92071009-92071010
ATXN3G127fs, G145fs, G185fs, G236fs, G24fs, G251fs, G255fs, G291fs, G306fs, G39fs, G79fs, G94fsnot providedUncertain significanceno assertion criteria provided
12.
GRCh37:
Chr14:92537353-92537354
GRCh38:
Chr14:92071009-92071010
ATXN3G127fs, G185fs, G255fs, P25fs, P40fs, G251fs, P95fs, G291fs, P146fs, G236fs, G306fs, P80fsnot specifiedUncertain significance
(Mar 29, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987Azorean diseaseUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr14:92537354
GRCh38:
Chr14:92071010
ATXN3not providedUncertain significance
(Oct 3, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
LOC108663987, ATXN3G127fs, G144fs, G185fs, G236fs, G23fs, G251fs, G255fs, G291fs, G306fs, G38fs, G78fs, G93fsnot specifiedBenignno assertion criteria provided
16.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987G127fs, G144fs, G185fs, G236fs, G23fs, G251fs, G255fs, G291fs, G306fs, G38fs, G78fs, G93fsnot providedUncertain significanceno assertion criteria provided
17.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
LOC108663987, ATXN3not providedBenign
(Nov 27, 2020)
criteria provided, single submitter
18.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987G127fs, G144fs, G185fs, G236fs, G23fs, G251fs, G255fs, G291fs, G306fs, G38fs, G78fs, G93fsnot providedUncertain significanceno assertion criteria provided
19.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987not providedLikely benignno assertion criteria provided
20.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
LOC108663987, ATXN3Azorean diseaseBenign
(Nov 16, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987not specifiedBenign
(May 3, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987not specifiedBenign
(May 5, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr14:92537354
GRCh38:
Chr14:92071010
ATXN3not specifiedUncertain significance
(Apr 4, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr14:92537354
GRCh38:
Chr14:92071010
ATXN3G306R, G127R, G185R, G23A, G251R, G78A, G93A, G236R, G255R, G38A, G144A, G291Rnot specifiedLikely benignno assertion criteria provided
25.
GRCh37:
Chr14:92537355-92537357
GRCh38:
Chr14:92071011-92071013
ATXN3, LOC108663987Parkinson disease, late-onset, Azorean diseasePathogenic; risk factor
(Nov 1, 1994)
no assertion criteria provided
26.
GRCh37:
Chr14:92537379-92537380
GRCh38:
Chr14:92071035-92071036
LOC108663987, ATXN3Q126fs, Q184fs, Q235fs, Q250fs, Q254fs, Q290fs, Q305fs, T136fs, T15fs, T30fs, T70fs, T85fsnot providedLikely benignno assertion criteria provided
27.
GRCh37:
Chr14:92537379
GRCh38:
Chr14:92071035
ATXN3, LOC108663987T70A, T85A, T15A, T30A, T136Anot provided, not specifiedLikely benign
(Nov 21, 2019)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr14:92537382-92537384
GRCh38:
Chr14:92071038-92071040
ATXN3, LOC108663987Azorean diseasePathogenic
(Sep 24, 2015)
no assertion criteria provided
29.
GRCh37:
Chr14:92537382-92537384
GRCh38:
Chr14:92071038-92071040
LOC108663987, ATXN3Azorean diseaseBenign
(Sep 24, 2015)
no assertion criteria provided
30.
GRCh37:
Chr14:92537386-92537388
GRCh38:
Chr14:92071042-92071044
ATXN3, LOC108663987K295del, K116del, K12del, K174del, K225del, K240del, K280del, K82del, K27del, K67del, K133del, K244delnot specifiedUncertain significance
(Jul 15, 2014)
criteria provided, single submitter
31.
GRCh37:
Chr14:92537387
GRCh38:
Chr14:92071043
ATXN3, LOC108663987K295Q, K244Q, K280Q, K67T, K116Q, K133T, K174Q, K225Q, K240Q, K27T, K82T, K12Tnot providedBenign
(Nov 21, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr14:92537388
GRCh38:
Chr14:92071044
ATXN3, LOC108663987K67E, K133E, K82E, K12E, K27Enot providedBenign
(Nov 21, 2019)
criteria provided, single submitter
33.
GRCh37:
Chr14:92547336
GRCh38:
Chr14:92080992
ATXN3R282Q, R41Q, R227Q, R231Q, R103Q, R161Q, R212Q, R267QInborn genetic diseasesUncertain significance
(May 27, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr14:92547399
GRCh38:
Chr14:92081055
ATXN3S210Y, S246Y, S140Y, S206Y, S20Y, S82Y, S191Y, S261YInborn genetic diseasesUncertain significance
(May 18, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr14:92547408
GRCh38:
Chr14:92081064
ATXN3Tip-toe gaitUncertain significance
(Mar 22, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr14:92548747
GRCh38:
Chr14:92082403
ATXN3E173D, E154D, E209D, E103D, E169D, E224D, E45DInborn genetic diseasesUncertain significance
(May 25, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr14:92548775
GRCh38:
Chr14:92082431
ATXN3A145V, A164V, A36V, A160V, A94V, A200V, A215VInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr14:92548776
GRCh38:
Chr14:92082432
ATXN3A160P, A164P, A94P, A145P, A200P, A215P, A36PInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr14:92548785
GRCh38:
Chr14:92082441
ATXN3V212M, V142M, V91M, V157M, V197M, V33M, V161Mnot specifiedLikely benignno assertion criteria provided
40.
GRCh37:
Chr14:92549495
GRCh38:
Chr14:92083151
ATXN3E16K, E140K, E180K, E125K, E144K, E195K, E74KInborn genetic diseasesUncertain significance
(Oct 29, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr14:92549586
GRCh38:
Chr14:92083242
ATXN3not specifiedLikely benignno assertion criteria provided
42.
GRCh37:
Chr14:92555136
GRCh38:
Chr14:92088792
ATXN3T123M, T83M, T138M, T68M, T87M, T17MInborn genetic diseasesUncertain significance
(May 11, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr14:92559626
GRCh38:
Chr14:92093282
ATXN3H119Q, H49Q, H64Q, H104Qnot specifiedUncertain significance
(Jun 27, 2014)
criteria provided, single submitter
44.
GRCh37:
Chr14:90429459-97347545
not providedUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr14:90429459-94856914
Achondrogenesis, type IAUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr14:84537502-107285437
not providedPathogenic
(Oct 5, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr14:81593708-97059276
not providedLikely pathogenic
(Aug 11, 2021)
criteria provided, single submitter
48.
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, VRTN, VRK1, VASH1, VCPKMT, VIPAS39, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF410, ZNF839
See cases