| - 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 cases | Pathogenic (Dec 2, 2014) | no assertion criteria provided |
| - 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 cases | Pathogenic (Jan 14, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr14:57507754-67674948
- GRCh38:
- Chr14:57041036-67208231
| ACTR10, AKAP5, AP5M1, ARID4A, ARMH4, C14orf39, CCDC175, CCDC196, CCDC198, CHURC1, CHURC1-FNTB, DAAM1, DACT1, DHRS7, ESR2, EXOC5, FNTB, FUT8, FUT8-AS1, GARIN2, GPHB5, GPHN, GPR135, GPX2, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, HSPA2, HSPA2-AS1, JKAMP, KCNH5, KIAA0586, L3HYPDH, LINC00216, LINC00643, LINC00644, LINC01303, LINC01500, LINC02290, LINC02322, LINC02324, LINC03033, LOC100506321, LOC110121407, LOC111365186, LOC112268140, LOC112268486, LOC112272545, LOC112272546, LOC112272548, LOC121468015, LOC121468016, LOC121529649, LOC121529650, LOC121838593, LOC121838594, LRRC9, MAX, MIR4706, MIR4708, MIR548H1, MIR5586, MIR625, MIR7855, MIR9718, MNAT1, MTHFD1, NAA30, PCNX4, PCNX4-DT, PLEKHG3, PPM1A, PPP1R36, PPP2R5E, PRKCH, PRKCH-AS1, PSMA3, PSMA3-AS1, RAB15, RHOJ, RTN1, SALRNA1, SGPP1, SIX1, SPTB, SIX4, SIX6, SLC35F4, SLC38A6, SNAPC1, SYNE2, SYT16, TIMM9, TMEM30B, TOMM20L, TOMM20L-DT, TRK-CTT1-1, TRMT5, WDR89, ZBTB1, ZBTB25 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr14:58120131-64560246
- GRCh38:
- Chr14:57653413-64093528
| ACTR10, ARID4A, ARMH4, C14orf39, CCDC175, DAAM1, DACT1, DHRS7, GPHB5, GPR135, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, JKAMP, KCNH5, KIAA0586, L3HYPDH, LINC00216, LINC00643, LINC00644, LINC01303, LINC01500, LINC02322, LINC03033, LOC110121407, LOC111365186, LOC112268140, LOC112268486, LOC112272545, LOC112272546, LOC121468015, LOC121468016, LOC121838593, LRRC9, MIR5586, MIR9718, MNAT1, PCNX4, PCNX4-DT, PPM1A, PPP2R5E, PRKCH, PRKCH-AS1, PSMA3, PSMA3-AS1, RHOJ, RTN1, SALRNA1, SGPP1, SIX1, SIX4, SIX6, SLC35F4, SLC38A6, SNAPC1, SYNE2, SYT16, TIMM9, TMEM30B, TOMM20L, TOMM20L-DT, TRK-CTT1-1, TRMT5, WDR89 | | See cases | Pathogenic (Sep 17, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr14:58612740-61740337
- GRCh38:
- Chr14:58146022-61273619
| ACTR10, ARID4A, ARMH4, C14orf39, CCDC175, DAAM1, DACT1, DHRS7, GPR135, JKAMP, KIAA0586, L3HYPDH, LINC00216, LINC01500, LINC02322, LOC110121407, LOC111365186, LOC112268486, LOC112272545, LOC121468015, LRRC9, MIR5586, MIR9718, MNAT1, PCNX4, PCNX4-DT, PPM1A, PRKCH, PSMA3, PSMA3-AS1, RTN1, SALRNA1, SIX1, SIX4, SIX6, SLC38A6, TIMM9, TOMM20L, TOMM20L-DT, TRK-CTT1-1, TRMT5 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr14:60383769-67217521
- GRCh38:
- Chr14:59917051-66750803
| AKAP5, C14orf39, CCDC196, CHURC1, CHURC1-FNTB, DHRS7, ESR2, FNTB, FUT8, FUT8-AS1, GPHB5, GPHN, GPX2, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, HSPA2, HSPA2-AS1, KCNH5, LINC00643, LINC00644, LINC01303, LINC02290, LINC02322, LINC02324, LINC03033, LOC100506321, LOC110121407, LOC112268140, LOC112268486, LOC112272545, LOC112272546, LOC112272548, LOC121468016, LOC121529649, LOC121838594, LRRC9, MAX, MIR4706, MIR4708, MIR548H1, MIR625, MIR7855, MIR9718, MNAT1, MTHFD1, PCNX4, PCNX4-DT, PLEKHG3, PPM1A, PPP1R36, PPP2R5E, PRKCH, PRKCH-AS1, RAB15, RHOJ, SALRNA1, SGPP1, SIX1, SIX4, SIX6, SLC38A6, SNAPC1, SPTB, SYNE2, SYT16, TMEM30B, TRMT5, WDR89, ZBTB1, ZBTB25 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61606488-61776423
- GRCh38:
- Chr14:61139770-61309705
| PRKCH, PRKCH-AS1, TMEM30B | | See cases | Uncertain significance (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr14:61746834
- GRCh38:
- Chr14:61280116
| TMEM30B, PRKCH | D344E | Inborn genetic diseases | Uncertain significance (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61747039
- GRCh38:
- Chr14:61280321
| TMEM30B, PRKCH | A276V | Inborn genetic diseases | Uncertain significance (Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61747084
- GRCh38:
- Chr14:61280366
| PRKCH, TMEM30B | T261R | Inborn genetic diseases | Uncertain significance (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61747093
- GRCh38:
- Chr14:61280375
| TMEM30B, PRKCH | A258V | Inborn genetic diseases | Uncertain significance (Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61747328
- GRCh38:
- Chr14:61280610
| PRKCH, TMEM30B | R180C | Inborn genetic diseases | Uncertain significance (Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61747420
- GRCh38:
- Chr14:61280702
| PRKCH, TMEM30B | P149L | Inborn genetic diseases | Uncertain significance (Nov 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61747532
- GRCh38:
- Chr14:61280814
| TMEM30B, PRKCH | Y112H | Inborn genetic diseases | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61747583
- GRCh38:
- Chr14:61280865
| TMEM30B, PRKCH | A95T | Inborn genetic diseases | Uncertain significance (Dec 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61747676
- GRCh38:
- Chr14:61280958
| PRKCH, TMEM30B | E64Q | Inborn genetic diseases | Uncertain significance (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61747720
- GRCh38:
- Chr14:61281002
| TMEM30B, PRKCH | L49R | Inborn genetic diseases | Uncertain significance (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61747742
- GRCh38:
- Chr14:61281024
| PRKCH, TMEM30B | A42S | Inborn genetic diseases | Uncertain significance (Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61788983
- GRCh38:
- Chr14:61322265
| PRKCH | G55A | Ischemic stroke | Uncertain significance (Jun 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61789013
- GRCh38:
- Chr14:61322295
| PRKCH | K65R | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61789147
- GRCh38:
- Chr14:61322429
| PRKCH | R110C | Inborn genetic diseases | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61909846
- GRCh38:
- Chr14:61443128
| PRKCH | R149W | Inborn genetic diseases | Uncertain significance (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61923897
- GRCh38:
- Chr14:61457179
| PRKCH | L322F | Inborn genetic diseases | Uncertain significance (Dec 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61923963
- GRCh38:
- Chr14:61457245
| PRKCH | V344I | Inborn genetic diseases | Uncertain significance (Jun 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61923992
- GRCh38:
- Chr14:61457274
| PRKCH | D353E | Inborn genetic diseases | Uncertain significance (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61924215
- GRCh38:
- Chr14:61457497
| PRKCH | | not provided | Benign (Jun 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61924237
- GRCh38:
- Chr14:61457519
| PRKCH | R373T | Inborn genetic diseases | Uncertain significance (Nov 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61924239
- GRCh38:
- Chr14:61457521
| PRKCH | V374I | Cerebral infarction, susceptibility to | risk factor (Feb 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr14:61952223
- GRCh38:
- Chr14:61485505
| PRKCH | R428C | Inborn genetic diseases | Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61952276
- GRCh38:
- Chr14:61485558
| PRKCH | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61952290
- GRCh38:
- Chr14:61485572
| PRKCH | R450H | Inborn genetic diseases | Uncertain significance (Dec 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61952298
- GRCh38:
- Chr14:61485580
| PRKCH | E453K | Inborn genetic diseases | Uncertain significance (Jul 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61995827
- GRCh38:
- Chr14:61529109
| PRKCH | E490K | Inborn genetic diseases | Uncertain significance (Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61997305
- GRCh38:
- Chr14:61530587
| PRKCH | | not provided | Likely benign (Aug 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:62016490
- GRCh38:
- Chr14:61549772
| PRKCH | M665V | Inborn genetic diseases | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:57804997-63590203
| ACTR10, ARID4A, ARMH4, C14orf39, CCDC175, CCDC198, DAAM1, DACT1, DHRS7, GPR135, HIF1A, HIF1A-AS2, JKAMP, KCNH5, KIAA0586, L3HYPDH, MNAT1, NAA30, PCNX4, PPM1A, PRKCH, PSMA3, RTN1, SIX1, SIX4, SIX6, SLC35F4, SLC38A6, SNAPC1, SYT16, TIMM9, TMEM30B, TOMM20L, TRMT5 | | not provided | Likely pathogenic (Dec 24, 2021) | criteria provided, single submitter |
| - 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 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr14:54654001-75828024
| ESR2, EXD2, SRSF5, SUSD6, SYNDIG1L, SYNE2, EXOC5, SYNJ2BP, SYT16, TBPL2, TIMM9, TMED10, TMEM229B, TRMT5, TTC9, VRTN, VSX2, YLPM1, ZBTB1, ZBTB25, ZC2HC1C, ZFP36L1, ZFYVE1, VTI1B, WDHD1, WDR89, ZFYVE26, ZNF410, TMEM260, TMEM30B, TOMM20L, FOS, FUT8, GALNT16, FNTB, GPX2, HEATR4, FBXO34, FAM161B, GARIN2, FCF1, ACOT1, ABCD4, ACOT2, ACOT4, ACOT6, ACTN1, ACTR10, ACYP1, ADAM20, ADAM21, AKAP5, ALDH6A1, AP5M1, AREL1, ARG2, ARID4A, ARMH4, ATG14, ATP6V1D, BBOF1, C14orf39, CCDC175, CCDC177, CCDC198, CDKN3, CGRRF1, CHURC1, CHURC1-FNTB, CNIH1, COQ6, COX16, DAAM1, DACT1, DCAF4, DCAF5, DHRS7, DLGAP5, DLST, DNAL1, DPF3, EIF2B2, EIF2S1, ENTPD5, ERH, GCH1, GMFB, GPHB5, GPHN, GPR135, HIF1A, HIF1A-AS2, HSPA2, ISCA2, JKAMP, KCNH5, KIAA0586, KTN1, L3HYPDH, LGALS3, LIN52, LTBP2, MAP3K9, MAPK1IP1L, MAX, MED6, MIDEAS, MLH3, MNAT1, MTHFD1, NAA30, NEK9, NPC2, NUMB, OTX2, PALS1, PAPLN, PCNX1, PCNX4, PELI2, PGF, PIGH, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PPM1A, PPP1R36, PPP2R5E, PRKCH, PROX2, PSEN1, PSMA3, PTGR2, RAB15, RAD51B, RBM25, RDH11, RDH12, RGS6, RHOJ, RIOX1, RPS6KL1, RTN1, SAMD4A, SGPP1, SIPA1L1, SIX1, SIX4, SIX6, SLC10A1, SLC35F4, SLC38A6, SLC39A9, SLC8A3, SMOC1, SNAPC1, SOCS4, SPTB | | 14q22.2q24.3 duplication | Likely pathogenic (Nov 19, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr14:61409856-65742610
| FNTB, AKAP5, CHURC1, CHURC1-FNTB, ESR2, GPHB5, GPX2, HIF1A, HIF1A-AS2, HSPA2, KCNH5, MAX, MNAT1, MTHFD1, PLEKHG3, PPP1R36, PPP2R5E, PRKCH, RAB15, RHOJ, SGPP1, SLC38A6, SNAPC1, SPTB, SYNE2, SYT16, TMEM30B, TRMT5, WDR89, ZBTB1, ZBTB25 | | not provided | Likely pathogenic (Nov 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr14:61701451-62960957
| HIF1A, HIF1A-AS2, PRKCH, SNAPC1, SYT16, TMEM30B | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr14:61126208-63517651
| HIF1A, HIF1A-AS2, KCNH5, MNAT1, PRKCH, SIX4, SLC38A6, SNAPC1, SYT16, TMEM30B, TRMT5 | | not provided | Uncertain significance (Jun 22, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr14:61701451-62960957
| HIF1A, HIF1A-AS2, PRKCH, SNAPC1, SYT16, TMEM30B | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr14:61965369-61983252
| PRKCH | | not provided | Benign (Mar 10, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr14:61898580-62271175
| HIF1A-AS2, PRKCH, SNAPC1, HIF1A | | not provided | Benign (Nov 8, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr14:19327823-107287663
| TPPP2, ACYP1, TRAF3, TINF2, UNC79, CHURC1, C14orf178, RPL36AL, PPP2R5C, TCL1A, FBXO34, TRIM9, EIF2S1, TMX1, SERPINA12, LOC101929572, LGALS3, AHNAK2, CCNB1IP1, DHRS4L1, FAM161B, ZFYVE1, CIPC, ABHD12B, SYNE3, RDH12, VRTN, LINC01599, GPR33, DYNC1H1, RNASE13, C14orf132, LTB4R, COX16, VIPAS39, MIR409, PCNX4, TMEM121, PPP4R3A, AKAP6, SIVA1, TDP1, ESRRB, POMT2, FOXN3, RNASE12, DACT1, GMPR2, ISCA2, TOX4, MIR370, RN7SL2, RPS29, MAPK1IP1L, STYX, NYNRIN, KIF26A, PRKD1, PNN, WARS1, CMA1, SIPA1L1, GARIN2, DIO2, CEP170B, TRL-AAG2-3, IGHD, TTC5, ADAM21, HOMEZ, BDKRB2, KHNYN, GSTZ1, FNTB, POTEM, IGHG2, SYNJ2BP, CPNE6, MIR369, DLST, FLVCR2, PPP4R4, JKAMP, NIN, SERPINA3, MIR136, MGAT2, GNG2, NEMF, OR4K17, EML5, LIN52, PPP1R3E, MOAP1, SERPINA4, IGHA1, DDHD1, SNORD113-1, CDKL1, POTEG, TIMM9, PAPOLA-DT, SSTR1, RNASE2, MIR376B, ITPK1, FCF1, ERH, PPP2R5E, TRIP11, BMP4, EGLN3, OR4K2, NRDE2, NFKBIA, SLC35F4, GMFB, TNFAIP2, SAV1, ARHGAP5, PSMC6, PSMB5, PLD4, IGHM, CHURC1-FNTB, OR4M1, NGB, KCNK10, SPATA7, GCH1, OTUB2, PNMA1, PIGH, CCDC88C, SIX6, EVL, SLC25A29, TRP-AGG2-5, IGHD3-3, HSPA2, WDHD1, DMAC2L, TMEM179, PGF, TECPR2, JAG2, GTF2A1, MIR208A, EIF2B2, MED6, PTPN21, L2HGDH, TMED8, KLHL28, PSEN1, OR4N5, KLHL33, MAX, SLC39A2, ANG, TGFB3, EMC9, RPPH1, PLEK2, SLC10A1, STXBP6, NPC2, PRIMA1, ZFHX2, FAM181A, TGM1, SUSD6, SLC25A21, ATXN3, TM9SF1, SAMD4A, SPTB, GPR137C, HEATR4, DCAF11, CINP, AKT1, ZFYVE26, OR5AU1, ATL1, RNASE8, LRP10, TBPL2, GZMB, IGHE, SNORD112, JPH4, TCL6, NKX2-1, PRMT5, PRPF39, FKBP3, IGHG4, DCAF5, C14orf119, PPP2R3C, EIF5, DHRS7, FBXO33, DICER1, PLEKHD1, MEG3, RNASE9, OTX2, TCL1B, MDGA2, GPR65, AHSA1, KLC1, GPATCH2L, KIAA0586, IRF2BPL, ARF6, CBLN3, CATSPERB, DHRS1, SPTLC2, ARID4A, ABCD4, DCAF4, OR4K13, AJUBA, RNASE3, MIR410, CCNK, TMEM229B, MIR376A2, OR4E2, DAAM1, FITM1, CMTM5, ABHD4, SNX6, BDKRB1, NEDD8, VSX2, MAP4K5, SERPINA1, GSC, PYGL, BCL11B, KLHDC1, TRAPPC6B, MAP3K9, G2E3, RNF31, PLEKHH1, TRT-TGT3-1, CCDC175, PCK2, OR10G3, RN7SL1, SLC38A6, SEC23A, GSKIP, PPP1R36, PSME2, RCOR1, PABPN1, PSMA6, PTGR2, ZNF839, METTL17, RAD51B, OSGEP, GLRX5, DIO3, DNAL1, DDX24, SERPINA5, DAD1, CNIH1, CHMP4A, CHD8, NID2, MOK, TMEM253, EFS, MMP14, FSCB, TEX22, CRIP2, SERPINA9, OR11H6, MIS18BP1, FOS, OR4Q3, DEGS2, SYNE2, PCNX1, ZBTB1, INF2, HECTD1, BAZ1A, RDH11, CLMN, ACTR10, SNHG10, STON2, TTC9, C14orf180, HSP90AA1, ESR2, FLRT2, BRMS1L, CALM1, MIR433, SOCS4, LINC01588, SYT16, UBR7, OR4K14, GEMIN2, DHRS4L2, NRL, RAB2B, CRIP1, OR10G2, OR4K5, ADCK1, SOS2, IRF9, PSME1, PACS2, AKAP5, APEX1, GALNT16, POLE2, MIR487B, DHRS2, OR4K1, MNAT1, FOXG1, EDDM3A, SLC8A3, DPF3, PROX2, OR11H2, TOGARAM1, PAPLN, STRN3, YY1, ASB2, PLEKHG3, PALS1, CDC42BPB, KCNK13, KTN1, DHRS4, CCDC177, COA8, RIN3, INSM2, SETD3, BTBD7, ERO1A, LYSET, SIX4, ATP6V1D, HIF1A, MIR495, SNW1, BCL2L2-PABPN1, PRORP, ACOT6, ISM2, SLC25A47, RIOX1, TXNDC16, MIR208B, TRMT61A, ZDHHC22, AP1G2, XRCC3, LRRC74A, DLGAP5, CDCA4, NGDN, SUPT16H, MIR127, ZFYVE21, RNASE11, BTBD6, GPR68, REM2, IL25, PSMC1, CDH24, RPS6KL1, ZNF410, BRF1, ASPG, SDR39U1, EDDM3B, VASH1, GOLGA5, DNAAF2, CIDEB, FBLN5, TMEM260, MIDEAS, MIR376A1, CTSG, KLHDC2, EXOC5, HHIPL1, NPAS3, DLK1, PIP4P1, ATG2B, BEGAIN, TTLL5, PRKCH, ZC2HC1C, MTA1, MIR134, AMN, SIX1, COX8C, ARMH4, RIPK3, SPTSSA, FRMD6, OR11G2, AP5M1, IFT43, RNASE7, NDRG2, TRA, PTCSC3, EAPP, TMEM63C, IGHG1, GPHB5, OR6S1, COQ6, NFATC4, GPR135, LTB4R2, GNPNAT1, CCDC198, BAG5, GALC, SLC39A9, TRP-AGG2-6, MDP1, DGLUCY, WDR89, PELI2, SLC22A17, ARHGEF40, AREL1, ALDH6A1, IPO4, AP4S1, CEBPE, MIA2, HNRNPC, RAB15, CCDC85C, SERPINA6, MTHFD1, FUT8, RN7SL3, IFI27L2, C14orf28, PAX9, ENTPD5, MRPL52, MYH6, SYNDIG1L, CARMIL3, IFI27L1, RGS6, EML1, ADAM20, RD3L, SRP54, MIR203A, MBIP, TC2N, ATP5MJ, LRFN5, MYH7, LRR1, OR4L1, SLC24A4, OR11H12, NUBPL, ACTN1, OR11H4, NUDT14, PTGER2, PSMB11, SLC7A8, CYP46A1, ZBTB25, ACIN1, SCFD1, WDR20, PPM1A, SEL1L, HIF1A-AS2, SALL2, TDRD9, ATG14, ERG28, MIR376C, ALKBH1, GPHN, MIPOL1, RNF212B, TEDC1, L3HYPDH, LGMN, C14orf93, TTC6, BATF, DTD2, COCH, TRMT5, MIR431, PAPOLA, ACOT1, CDKN3, MLH3, RABGGTA, RBM23, GZMH, TMEM30B, PARP2, IGHG3, RTL1, RPL10L, TTC8, NUMB, ADCY4, FOXA1, ARG2, C14orf39, RTN1, NAA30, CEP128, RNASE10, NOXRED1, BCL2L2, CGRRF1, RPGRIP1, IFI27, RALGAPA1, RNASE6, MIR380, THTPA, NDUFB1, GON7, SMOC1, SNORD114-1, NKX2-8, NOP9, REC8, MEG8, NEDD8-MDP1, NEK9, RBM25, EXOC3L4, EXD2, LINC02914, SLIRP, TMED10, FERMT2, TOMM20L, VCPKMT, GPR132, CLEC14A, CHGA, ACOT4, SERPINA11, IGHA2, ZC3H14, OR4K15, RPS6KA5, SERPINA10, RHOJ, VTI1B, IGH, WDR25, PTGDR, SFTA3, BBOF1, GPX2, TSHR, YLPM1, ADSS1, FAM177A1, SAMD15, OXA1L, CPSF2, FANCM, PPP1R13B, PNP, TEP1, CKB, SRSF5, KCNH5, JDP2, SGPP1, ZNF219, ZBTB42, EFCAB11, SERPINA2, VRK1, DIO3OS, PSMA3, LTBP2, MARK3, SNAPC1, CLBA1, ACOT2, CFL2, ANKRD9, TTC7B, RNASE1, TSSK4, OR4N2, HEATR5A, METTL3, AK7, SLC7A7, RNASE4, ANGEL1, NOVA1, IGHV3-23, ZFP36L1, HAUS4, RTRAF | | not provided | Pathogenic (Oct 31, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr14:19280733-107287663
| RNASE4, CNIH1, KLHL28, DHRS1, TXNDC16, ERG28, VTI1B, TEX22, BTBD7, TDRD9, RNF212B, IRF9, NPC2, YLPM1, ZFYVE26, OTUB2, SERPINA2, EIF2B2, MYH6, BCL2L2, PALS1, PPP4R4, BCL2L2-PABPN1, PRIMA1, ACOT1, SNHG10, EFS, NEDD8-MDP1, TIMM9, IGHV3-23, CEP170B, ACTN1, VRK1, TOGARAM1, MLH3, BTBD6, TGM1, RNASE9, HNRNPC, VSX2, BRF1, OR4L1, FOXA1, GPR65, AKAP6, WARS1, NYNRIN, TGFB3, MIR495, TM9SF1, PSME1, LINC01599, NEDD8, HEATR5A, TMEM30B, MOK, TDP1, KCNK13, FOXN3, BDKRB2, BMP4, LINC01588, DIO3, ZNF839, MEG3, RABGGTA, PCNX1, MAPK1IP1L, KLHL33, KHNYN, ITPK1, TC2N, MNAT1, DMAC2L, CHURC1, RNASE7, ASB2, CYP46A1, PARP2, ZNF410, OSGEP, ABHD12B, ANKRD9, EAPP, KIAA0586, FAM181A, SALL2, OR4N2, SLC25A29, NOXRED1, MTHFD1, GNPNAT1, GMPR2, NOVA1, VIPAS39, DHRS4, ZC2HC1C, PRMT5, OR4M1, RCOR1, TTC7B, SAV1, SEC23A, SLC10A1, KLHDC2, C14orf39, MRPL52, PAX9, SERPINA10, MAX, RN7SL1, RAD51B, PPP1R13B, CHURC1-FNTB, KIF26A, AKAP5, DCAF4, DHRS2, FAM161B, CGRRF1, MIR376C, BAZ1A, NKX2-8, INF2, OR4K2, MOAP1, TTC8, BAG5, NUDT14, ARHGEF40, SNORD113-1, PROX2, DTD2, HAUS4, RD3L, GNG2, RDH12, SAMD4A, RN7SL2, ARMH4, SERPINA3, RNASE6, OXA1L, MGAT2, PRKCH, FBXO34, SLC22A17, ACYP1, RHOJ, TRT-TGT3-1, AP4S1, PABPN1, TSSK4, ZBTB25, PELI2, DCAF11, OR11H4, LRFN5, OR4E2, REM2, AK7, RNASE11, IFT43, LOC101929572, NFATC4, ATP6V1D, EIF2S1, SMOC1, SLC7A8, GPHB5, LIN52, FLRT2, ARG2, DACT1, IGHE, RNASE1, TMEM179, SLC7A7, SERPINA11, DNAAF2, MIR376B, CEP128, FUT8, SYNE2, NDUFB1, RNASE2, AMN, PIP4P1, FNTB, DAAM1, EXD2, SLC8A3, ASPG, PRKD1, CHGA, POLE2, TCL6, TSHR, PAPOLA-DT, C14orf119, PNP, GPR33, TRMT5, RGS6, CHD8, OR4K14, RAB2B, ABCD4, ACOT4, C14orf180, STON2, WDR25, ZFHX2, PTCSC3, ERO1A, ENTPD5, SNORD114-1, CLEC14A, LYSET, MIR208B, RIPK3, ZFP36L1, ALKBH1, OR10G3, PLEK2, SOS2, BEGAIN, GMFB, VRTN, CDCA4, FERMT2, NEK9, SIVA1, FCF1, MEG8, CCNK, VASH1, FRMD6, SYNE3, CATSPERB, FBLN5, YY1, ARID4A, NAA30, DLK1, IRF2BPL, ERH, SYT16, TMEM260, C14orf28, MIR410, SERPINA4, CMA1, LRRC74A, CFL2, ADSS1, RNF31, TCL1A, MAP4K5, ISM2, DAD1, SIX1, NKX2-1, PSMA6, JPH4, SERPINA9, EDDM3B, RPS29, CDKL1, RPPH1, IGHA2, PSMC6, DIO2, TTC5, PGF, AHNAK2, POTEG, DDHD1, PTPN21, SLC35F4, INSM2, PPM1A, SPTB, LGMN, SNORD112, EXOC5, EMC9, WDR89, MYH7, OR11H2, FITM1, GPR135, CDKN3, MIR369, MIR376A2, DHRS4L2, RN7SL3, PPP1R36, IGHG2, TRA, SLC39A9, LTB4R2, GPR137C, SIX4, GALNT16, RNASE12, RPS6KL1, MIDEAS, PACS2, RNASE10, JAG2, THTPA, TEDC1, PIGH, ZDHHC22, NUBPL, NGB, ATL1, BBOF1, SUSD6, PAPOLA, CTSG, SOCS4, MIR409, IGH, OR10G2, RPL10L, IFI27L2, ADCK1, NEMF, SLC25A21, HIF1A-AS2, PNMA1, DLGAP5, SRP54, TOX4, VCPKMT, RTL1, RTRAF, SLC25A47, UNC79, OTX2, EGLN3, PCNX4, MARK3, SUPT16H, DHRS4L1, IGHD3-3, GOLGA5, TRAPPC6B, IGHM, TEP1, NFKBIA, HEATR4, CEBPE, PCK2, ESRRB, CPNE6, CBLN3, FOS, ANG, MIR136, TTC9, AHSA1, PAPLN, BCL11B, CIDEB, L3HYPDH, L2HGDH, TECPR2, PSMB11, ABHD4, MTA1, GALC, RDH11, TNFAIP2, METTL3, RTN1, TRAF3, BATF, ACTR10, ADAM21, PRPF39, FLVCR2, GCH1, CINP, KTN1, TMEM121, MBIP, SCFD1, ACOT6, AJUBA, EML1, PTGER2, HSPA2, MIA2, ADAM20, IGHG4, TMED8, ATG14, PLEKHD1, OR6S1, SLC39A2, ACOT2, NOP9, RBM23, MIR380, NUMB, RALGAPA1, MIPOL1, KLHDC1, MIS18BP1, TRP-AGG2-5, GPR132, TTLL5, RNASE3, JDP2, TMX1, GEMIN2, TMEM253, CKB, OR11G2, COQ6, BRMS1L, OR4K13, KLC1, PSMB5, ACIN1, CCNB1IP1, RNASE13, ATP5MJ, DEGS2, SRSF5, NGDN, HSP90AA1, TMED10, MIR487B, CRIP1, RBM25, SIX6, LGALS3, SAMD15, GON7, MDP1, GPR68, RIOX1, JKAMP, GLRX5, LINC02914, PRORP, CCDC88C, MAP3K9, SLC38A6, TOMM20L, NRL, DDX24, CCDC175, CDH24, C14orf178, MIR431, XRCC3, SYNJ2BP, MIR203A, MIR376A1, NPAS3, RIN3, IGHG3, SIPA1L1, PNN, MMP14, GSKIP, RPGRIP1, RPS6KA5, PPP4R3A, MIR433, PSEN1, FAM177A1, CLBA1, TCL1B, AKT1, LRP10, SNW1, ATXN3, MED6, OR4K17, ZC3H14, COX16, HECTD1, GTF2A1, AREL1, ESR2, OR11H6, HIF1A, STRN3, IFI27L1, FANCM, RNASE8, EDDM3A, CCDC177, PPP2R5E, ZBTB42, GZMH, KCNH5, EIF5, CRIP2, EML5, DIO3OS, BDKRB1, MIR208A, NIN, ARF6, PPP2R5C, METTL17, LTBP2, TRMT61A, DLST, CARMIL3, SPTLC2, MDGA2, PPP2R3C, DNAL1, OR4K1, IPO4, HOMEZ, SNX6, PLEKHH1, GSTZ1, SETD3, C14orf93, SEL1L, POTEM, CMTM5, DGLUCY, ZFYVE21, IL25, ALDH6A1, CDC42BPB, CCDC198, WDR20, G2E3, OR4N5, SERPINA6, PSMA3, IGHA1, APEX1, RAB15, CCDC85C, ATG2B, ARHGAP5, UBR7, STXBP6, DCAF5, EFCAB11, HHIPL1, COX8C, ZFYVE1, FSCB, DHRS7, TPPP2, IGHG1, ANGEL1, AP1G2, CIPC, CALM1, SERPINA5, IGHD, OR5AU1, SDR39U1, COA8, STYX, REC8, SPTSSA, MIR134, PTGR2, SLIRP, POMT2, FBXO33, GARIN2, PLEKHG3, ZBTB1, SFTA3, NID2, CLMN, CHMP4A, AP5M1, DYNC1H1, TINF2, TRL-AAG2-3, PLD4, PYGL, GPATCH2L, PSME2, LTB4R, NDRG2, OR4K5, SLC24A4, SPATA7, OR4K15, GPHN, ISCA2, PPP1R3E, PTGDR, SSTR1, GSC, TTC6, C14orf132, FKBP3, IFI27, NRDE2, EXOC3L4, SGPP1, RPL36AL, MIR127, TRP-AGG2-6, TBPL2, ZNF219, DPF3, TRIM9, PSMC1, GPX2, SNAPC1, TMEM63C, OR4Q3, TMEM229B, OR11H12, SERPINA12, DICER1, WDHD1, CPSF2, COCH, GZMB, SERPINA1, TRIP11, KCNK10, MIR370, EVL, LRR1, ADCY4, SYNDIG1L, FOXG1 | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr14:19000422-107289053
| RBM23, CHURC1-FNTB, METTL17, CPSF2, PYGL, SERPINA2, MTHFD1, RNF212B, PNN, PSMB11, DCAF5, ALDH6A1, PPP2R5E, BDKRB1, LGMN, RPL10L, SERPINA5, PPP2R5C, PABPN1, ZBTB1, NGB, ARID4A, PRORP, C14orf180, FOS, SLC7A8, PNP, IGHA2, SYNJ2BP, MDP1, PAX9, FSCB, ZBTB42, OR4K15, GEMIN2, BBOF1, TEDC1, G2E3, AP1G2, MIR376C, SGPP1, KLC1, SNHG10, RN7SL2, BATF, MGAT2, NOP9, EIF5, PACS2, HNRNPC, DLGAP5, TRL-AAG2-3, ARHGEF40, SIPA1L1, TTC9, ANKRD9, RNASE11, RABGGTA, LIN52, GPR132, PCNX1, OR11H2, MRPL52, WDR89, ASPG, AP5M1, MYH7, OTUB2, EML5, ERO1A, ZFYVE26, KLHL33, NDUFB1, DHRS2, SLC25A21, ESR2, MYH6, EXOC5, WARS1, CMA1, AP4S1, C14orf119, DIO3, MIR487B, GPATCH2L, CDC42BPB, TNFAIP2, OR4M1, SLC25A29, VRTN, GZMH, IFI27L1, TMEM179, PALS1, GNPNAT1, TMX1, LINC01599, TXNDC16, PSME2, LTB4R, RNASE13, HEATR5A, ADCY4, WDR25, MARK3, SPTLC2, ERG28, SPTB, RPS6KA5, ATG2B, LRP10, MAP3K9, LRR1, SPTSSA, SLC22A17, PTPN21, OR11H12, OTX2, NFATC4, PARP2, OR4K13, PSMA6, RAB15, RNASE6, SAV1, ESRRB, TRA, EFS, NKX2-1, TTC5, TRMT5, CTSG, SNAPC1, RNASE1, IGHD3-3, PAPOLA-DT, IGHD, POLE2, PRKD1, LINC02914, SIX6, CLMN, RPS29, SNORD114-1, CDCA4, FANCM, MIA2, DEGS2, HAUS4, VCPKMT, MED6, AMN, PSME1, RNASE2, IRF2BPL, OR4K1, SOS2, KLHL28, SLC24A4, CCNB1IP1, GZMB, FBLN5, COQ6, DHRS4, AK7, IGHG2, RHOJ, PGF, NUBPL, IGHG1, NEMF, OR6S1, EXOC3L4, AJUBA, BCL2L2, TCL1A, RDH11, EIF2B2, PCNX4, GALC, TMEM229B, ZNF219, SLC39A2, TBPL2, TTC8, SERPINA12, ABHD4, LTB4R2, RNF31, TMED8, IGHG3, RPL36AL, GNG2, ATXN3, NFKBIA, MIR370, HHIPL1, IGH, CCDC198, PTCSC3, SLC39A9, L2HGDH, MIR127, C14orf178, KLHDC2, ZFP36L1, YY1, DDHD1, COCH, HEATR4, GPR68, SDR39U1, GMPR2, CIPC, CGRRF1, JPH4, SERPINA6, CHMP4A, IGHA1, MIR376A1, TGM1, TMEM30B, BAG5, POMT2, ARHGAP5, RIOX1, PPP2R3C, IFI27L2, SMOC1, DIO2, HIF1A-AS2, PPP1R13B, GPR33, JKAMP, POTEG, OR4L1, TOMM20L, PTGR2, MIR495, VRK1, RNASE3, MIPOL1, EFCAB11, DLST, WDHD1, IPO4, CRIP2, EAPP, POTEM, ZNF410, SPATA7, MTA1, ADAM21, PLEKHG3, MIR431, GSKIP, SETD3, FAM161B, GPR135, NPAS3, FOXN3, SIX4, TRMT61A, CKB, TTC7B, GALNT16, TMEM253, IL25, BMP4, TCL1B, ZBTB25, MIR380, YLPM1, MEG8, FRMD6, SERPINA3, OR4K2, METTL3, DAAM1, CCDC88C, GARIN2, UNC79, FLRT2, PIP4P1, KLHDC1, MIR433, WDR20, NDRG2, RN7SL3, TDP1, CEP170B, MLH3, ZDHHC22, SYT16, FOXA1, RTRAF, NOXRED1, TOGARAM1, IGHG4, NOVA1, HSPA2, TSSK4, KCNK13, DCAF4, COX8C, DHRS4L2, FLVCR2, CPNE6, RPGRIP1, STXBP6, KIAA0586, CYP46A1, IRF9, MAP4K5, PSMC6, STON2, SLC38A6, TC2N, EIF2S1, OSGEP, RBM25, PAPOLA, MEG3, NEK9, NID2, TSHR, ANG, MIDEAS, MIR134, RIN3, STYX, C14orf93, MIR208B, MIR136, SERPINA1, C14orf132, MIR369, SERPINA4, ADSS1, BAZ1A, OR10G3, OR10G2, PPP4R3A, GCH1, TDRD9, NEDD8, ISM2, SRP54, MOK, SOCS4, KCNK10, ACOT1, VIPAS39, NPC2, EGLN3, SEL1L, OR4E2, ACTR10, FOXG1, ZFHX2, ZC3H14, TRP-AGG2-6, REC8, SNORD112, DGLUCY, ZC2HC1C, MOAP1, EDDM3B, TRP-AGG2-5, ANGEL1, ATG14, AKAP6, ACOT2, ISCA2, LRFN5, RNASE10, FKBP3, SLC25A47, TRAF3, SUSD6, AREL1, CMTM5, RAB2B, TEX22, BRF1, ARG2, CCDC177, HIF1A, CRIP1, CEBPE, DNAAF2, MIR208A, RNASE4, KHNYN, TRAPPC6B, TMED10, BTBD7, GPX2, TTLL5, ZFYVE1, ADAM20, TMEM260, ERH, SNX6, OR5AU1, RD3L, AKAP5, MIS18BP1, TCL6, CHURC1, GSTZ1, CHD8, CCNK, EML1, SERPINA10, SSTR1, FAM181A, SALL2, PAPLN, RAD51B, FITM1, TOX4, LINC01588, INSM2, SFTA3, GPHN, LTBP2, HSP90AA1, DTD2, GON7, GLRX5, PSMA3, EDDM3A, PELI2, APEX1, ATP5MJ, IGHE, RNASE12, PCK2, VSX2, CINP, EXD2, PPP1R3E, PLEKHH1, FCF1, SAMD4A, RALGAPA1, ZFYVE21, FERMT2, SEC23A, SLIRP, PSEN1, SLC10A1, ACOT4, DNAL1, XRCC3, CCDC85C, PLEKHD1, RNASE9, GPR137C, CFL2, MIR376B, ACOT6, CLBA1, AHSA1, FAM177A1, UBR7, FUT8, AHNAK2, FBXO33, IGHV3-23, TRT-TGT3-1, MAX, CDKL1, JDP2, MMP14, RIPK3, IFT43, BCL11B, GSC, NAA30, LYSET, SLC8A3, IFI27, NRDE2, GPR65, ACTN1, SLC7A7, OR4N2, IGHM, OR4Q3, BTBD6, STRN3, SERPINA9, TPPP2, CLEC14A, PTGER2, ARMH4, RTN1, FBXO34, MNAT1, CARMIL3, MDGA2, PLEK2, RTL1, PRKCH, L3HYPDH, ADCK1, CIDEB, KCNH5, BRMS1L, TM9SF1, MAPK1IP1L, NIN, ARF6, PPP4R4, OR11H4, ASB2, THTPA, FNTB, RCOR1, PRMT5, GMFB, C14orf39, TGFB3, PTGDR, CCDC175, EMC9, ENTPD5, ACIN1, SIVA1, DHRS4L1, ABCD4, NYNRIN, REM2, JAG2, MIR376A2, ZNF839, LRRC74A, DMAC2L, NGDN, DDX24, C14orf28, DICER1, HOMEZ, GPHB5, SCFD1, PRPF39, PIGH, KIF26A, NRL, MIR410, BDKRB2, EVL, NEDD8-MDP1, CALM1, GOLGA5, SNORD113-1, SRSF5, PNMA1, DHRS1, RPPH1, DAD1, LGALS3, RPS6KL1, TIMM9, PSMC1, TECPR2, GTF2A1, SERPINA11, MIR203A, BCL2L2-PABPN1, MBIP, MIR409, TTC6, ATP6V1D, CBLN3, OXA1L, BEGAIN, AKT1, KTN1, SYNE3, VTI1B, OR4N5, ABHD12B, ALKBH1, SYNDIG1L, TRIP11, TMEM121, SUPT16H, PLD4, PROX2, PPP1R36, TMEM63C, OR11G2, SLC35F4, RNASE7, SAMD15, VASH1, PRIMA1, OR11H6, TINF2, NUMB, DHRS7, DACT1, LOC101929572, DPF3, DIO3OS, CDKN3, SYNE2, OR4K17, RNASE8, CHGA, NUDT14, RDH12, PPM1A, RGS6, HECTD1, TRIM9, OR4K5, COX16, SIX1, CEP128, ATL1, NKX2-8, ITPK1, TEP1, CATSPERB, RN7SL1, CDH24, INF2, DCAF11, OR4K14, COA8, CNIH1, DYNC1H1, ACYP1, SNW1, PSMB5, DLK1 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr14:20511673-107285437
| EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FANCM, FBLN5, FBXO33, FBXO34, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLVCR2, FNTB, FOS, FOXA1, FOXG1, FOXN3, FRMD6, FSCB, FUT8, G2E3, GALC, GALNT16, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSKIP, GSTZ1, GTF2A1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HECTD1, HHIPL1, HIF1A, HIF1A-AS2, HNRNPC, HOMEZ, HSP90AA1, HSPA2, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, |