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Items: 50

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:
Chr14:57507754-67674948
GRCh38:
Chr14:57041036-67208231
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr14:58120131-64560246
GRCh38:
Chr14:57653413-64093528
See casesPathogenic
(Sep 17, 2012)
no assertion criteria provided
5.
GRCh37:
Chr14:58612740-61740337
GRCh38:
Chr14:58146022-61273619
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr14:60383769-67217521
GRCh38:
Chr14:59917051-66750803
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr14:61606488-61776423
GRCh38:
Chr14:61139770-61309705
PRKCH, PRKCH-AS1, TMEM30BSee casesUncertain significance
(Nov 30, 2010)
no assertion criteria provided
8.
GRCh37:
Chr14:61746834
GRCh38:
Chr14:61280116
TMEM30B, PRKCHD344EInborn genetic diseasesUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr14:61747039
GRCh38:
Chr14:61280321
TMEM30B, PRKCHA276VInborn genetic diseasesUncertain significance
(Aug 17, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr14:61747084
GRCh38:
Chr14:61280366
PRKCH, TMEM30BT261RInborn genetic diseasesUncertain significance
(Mar 25, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr14:61747093
GRCh38:
Chr14:61280375
TMEM30B, PRKCHA258VInborn genetic diseasesUncertain significance
(Oct 6, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr14:61747328
GRCh38:
Chr14:61280610
PRKCH, TMEM30BR180CInborn genetic diseasesUncertain significance
(Oct 20, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr14:61747420
GRCh38:
Chr14:61280702
PRKCH, TMEM30BP149LInborn genetic diseasesUncertain significance
(Nov 17, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr14:61747532
GRCh38:
Chr14:61280814
TMEM30B, PRKCHY112HInborn genetic diseasesUncertain significance
(May 27, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr14:61747583
GRCh38:
Chr14:61280865
TMEM30B, PRKCHA95TInborn genetic diseasesUncertain significance
(Dec 14, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr14:61747676
GRCh38:
Chr14:61280958
PRKCH, TMEM30BE64QInborn genetic diseasesUncertain significance
(Jul 13, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr14:61747720
GRCh38:
Chr14:61281002
TMEM30B, PRKCHL49RInborn genetic diseasesUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr14:61747742
GRCh38:
Chr14:61281024
PRKCH, TMEM30BA42SInborn genetic diseasesUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr14:61788983
GRCh38:
Chr14:61322265
PRKCHG55AIschemic strokeUncertain significance
(Jun 22, 2020)
criteria provided, single submitter
20.
GRCh37:
Chr14:61789013
GRCh38:
Chr14:61322295
PRKCHK65RInborn genetic diseasesUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr14:61789147
GRCh38:
Chr14:61322429
PRKCHR110CInborn genetic diseasesUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr14:61909846
GRCh38:
Chr14:61443128
PRKCHR149WInborn genetic diseasesUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr14:61923897
GRCh38:
Chr14:61457179
PRKCHL322FInborn genetic diseasesUncertain significance
(Dec 6, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr14:61923963
GRCh38:
Chr14:61457245
PRKCHV344IInborn genetic diseasesUncertain significance
(Jun 23, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr14:61923992
GRCh38:
Chr14:61457274
PRKCHD353EInborn genetic diseasesUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr14:61924215
GRCh38:
Chr14:61457497
PRKCHnot providedBenign
(Jun 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr14:61924237
GRCh38:
Chr14:61457519
PRKCHR373TInborn genetic diseasesUncertain significance
(Nov 18, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr14:61924239
GRCh38:
Chr14:61457521
PRKCHV374ICerebral infarction, susceptibility torisk factor
(Feb 1, 2007)
no assertion criteria provided
29.
GRCh37:
Chr14:61952223
GRCh38:
Chr14:61485505
PRKCHR428CInborn genetic diseasesUncertain significance
(May 25, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr14:61952276
GRCh38:
Chr14:61485558
PRKCHnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr14:61952290
GRCh38:
Chr14:61485572
PRKCHR450HInborn genetic diseasesUncertain significance
(Dec 13, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr14:61952298
GRCh38:
Chr14:61485580
PRKCHE453KInborn genetic diseasesUncertain significance
(Jul 6, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr14:61995827
GRCh38:
Chr14:61529109
PRKCHE490KInborn genetic diseasesUncertain significance
(Mar 30, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr14:61997305
GRCh38:
Chr14:61530587
PRKCHnot providedLikely benign
(Aug 17, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr14:62016490
GRCh38:
Chr14:61549772
PRKCHM665VInborn genetic diseasesUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr14:57804997-63590203
not providedLikely pathogenic
(Dec 24, 2021)
criteria provided, single submitter
37.
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 casesPathogenicno assertion criteria provided
38.
GRCh37:
Chr14:54654001-75828024
14q22.2q24.3 duplicationLikely pathogenic
(Nov 19, 2020)
no assertion criteria provided
39.
GRCh37:
Chr14:61409856-65742610
not providedLikely pathogenic
(Nov 1, 2019)
no assertion criteria provided
40.
GRCh37:
Chr14:61701451-62960957
HIF1A, HIF1A-AS2, PRKCH, SNAPC1, SYT16, TMEM30Bnot providednot providedno assertion provided
41.
GRCh37:
Chr14:61126208-63517651
not providedUncertain significance
(Jun 22, 2018)
no assertion criteria provided
42.
GRCh37:
Chr14:61701451-62960957
HIF1A, HIF1A-AS2, PRKCH, SNAPC1, SYT16, TMEM30Bnot providednot providedno assertion provided
43.
GRCh37:
Chr14:61965369-61983252
PRKCHnot providedBenign
(Mar 10, 2011)
no assertion criteria provided
44.
GRCh37:
Chr14:61898580-62271175
HIF1A-AS2, PRKCH, SNAPC1, HIF1Anot providedBenign
(Nov 8, 2012)
no assertion criteria provided
45.
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 providedPathogenic
(Oct 31, 2014)
no assertion criteria provided
46.
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 providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
47.
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 providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
48.
GRCh37:
Chr14:20511673-107285437