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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr14:20511673-107285437
GRCh38:
Chr14:20043514-106877229
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, 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, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NRXN3, NUBPL, NUBPL-DT, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR4K17, OR4L1, OR4N5, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OTX2, OTX2-AS1, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPLN-AS1, PAPOLA, PAPOLA-DT, PARP2, PAX9, PCK2, PCNX1, PCNX4, PCNX4-DT, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R13B-DT, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, 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, 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, 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, TMEM251, 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, 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, TTC8, TTC9, TTC9-DT, TTLL5, TUNAR, TXNDC16, UBR7, UNC79, 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, 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, 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, FLJ22447, 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, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HEATR5A-DT, HECTD1, HHIPL1, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, HNRNPC, HOMEZ, HSP90AA1, HSPA2, HSPA2-AS1, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD1-1, IGHD1-14, IGHD1-20, IGHD1-26, IGHD1-7, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHD3-22, IGHD3-3, IGHD3-9, IGHD4-11, IGHD4-17, IGHD4-23, IGHD4-4, IGHD5-12, IGHD5-18, IGHD5-24, IGHD5-5, IGHD6-13, IGHD6-19, IGHD6-25, IGHD6-6, IGHD7-27, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-69-2, IGHV1-69D, IGHV2-26, IGHV2-5, IGHV2-70, IGHV2-70D, IGHV3-11, IGHV3-13, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-64D, IGHV3-66, IGHV3-7, IGHV3-72, IGHV3-73, IGHV3-74, IGHV4-28, IGHV4-30-2, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-10-1, IGHV5-51, IGHV6-1, IGHV7-4-1, IGHV7-81, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KIF26A-DT, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, KTN1-AS1, L2HGDH, L3HYPDH, LBHD2, LGALS3, LGMN, LIN52, LINC00216, LINC00221, LINC00226, LINC00239, LINC00341, LINC00517, LINC00519, LINC00520, LINC00523, LINC00524, LINC00596, LINC00605, LINC00609, LINC00618, LINC00638, LINC00639, LINC00640, LINC00641, LINC00642, LINC00643, LINC00644, LINC00645, LINC00648, LINC00677, LINC00871, LINC00911, LINC01146, 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, LMLN2, LOC100289511, LOC100506071, LOC100506321, LOC100506358, LOC100506476, LOC100506499, LOC100507437, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101928143, LOC101928504, LOC101928909, LOC101929718, LOC102723604, LOC105370401, 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, LOC254028, LOC400212, LOC728755, LRFN5, LRP10, LRR1, LRRC74A, LRRC9, LTB4R, LTB4R2, LTBP2, MAP3K9, MAP3K9-DT, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, MEG9, METTL17, METTL3, MGAT2, MHRT, MIA2, MIA2-AS1, MIDEAS, MIPOL1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR208A, MIR208B, MIR2392, MIR299, MIR300, MIR3171, 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
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000155306
2.
GRCh37:
Chr14:20619308-107263478
GRCh38:
Chr14:20151149-106855263
GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HEATR5A-DT, HECTD1, HHIPL1, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, 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, LINC01146, 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, LMLN2, LOC100289511, LOC100506071, LOC100506321, LOC100506358, LOC100506476, LOC100506499, LOC100507437, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101928143, LOC101928504, LOC101928909, LOC101929718, LOC102723604, LOC105370401, 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, LOC254028, LOC400212, LOC728755, LRFN5, LRP10, LRR1, LRRC74A, LRRC9, LTB4R, LTB4R2, LTBP2, MAP3K9, MAP3K9-DT, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, MEG9, METTL17, METTL3, MGAT2, MHRT, MIA2, MIA2-AS1, MIDEAS, MIPOL1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR208A, MIR208B, MIR2392, MIR299, MIR300, MIR3171, 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, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839, ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTN1-DT, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP1G2-AS1, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGAP5-AS1, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BAZ1A-AS1, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, C14orf99, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC196, CCDC197, CCDC198, CCDC85C, CCDC88C, CCDC88C-DT, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, 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, 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, FLJ22447, 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, 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, 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, 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, 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, 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, TMEM251, 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, 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, TTC8, TTC9, TTC9-DT, TTLL5, TUNAR, TXNDC16, UBR7, UNC79, VASH1, VASH1-AS1, VCPKMT, VIPAS39
See casesPathogenic
(Jan 14, 2011)
no assertion criteria providedVCV000146230
3.
GRCh37:
Chr14:74122475-107287505
GRCh38:
Chr14:73655772-106879298
ABCD4, ACYP1, ADCK1, ADSS1, AHNAK2, AHSA1, AK7, AKT1, ALDH6A1, ALKBH1, AMN, ANGEL1, ANKRD9, AREL1, ASB2, ASPG, ATG2B, ATP5MJ, ATXN3, BAG5, BATF, BBOF1, BCL11B, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, BTBD7, C14orf132, C14orf178, C14orf180, C14orf99, CALM1, CATSPERB, CCDC197, CCDC85C, CCDC88C, CCDC88C-DT, CCNK, CDC42BPB, CDCA4, CEP128, CEP170B, CHGA, CINP, CIPC, CKB, CLBA1, CLMN, COA8, COQ6, COX8C, CPSF2, CRIP1, CRIP2, CYP46A1, DDX24, DEGS2, DGLUCY, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLK1, DLST, DNAL1, DYNC1H1, EFCAB11, EIF2B2, EIF5, EML1, EML5, ENTPD5, ERG28, ESRRB, EVL, EXOC3L4, FAM161B, FAM181A, FAM181A-AS1, FAM30A, FBLN5, FCF1, FLRT2, FLRT2-AS1, FLVCR2, FLVCR2-AS1, FOS, FOXN3, FOXN3-AS1, FOXN3-AS2, GALC, GLRX5, GOLGA5, GON7, GPATCH2L, GPR132, GPR65, GPR68, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, HHIPL1, HSP90AA1, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD1-1, IGHD1-14, IGHD1-20, IGHD1-26, IGHD1-7, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHD3-22, IGHD3-3, IGHD3-9, IGHD4-11, IGHD4-17, IGHD4-23, IGHD4-4, IGHD5-12, IGHD5-18, IGHD5-24, IGHD5-5, IGHD6-13, IGHD6-19, IGHD6-25, IGHD6-6, IGHD7-27, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-69-2, IGHV1-69D, IGHV2-26, IGHV2-5, IGHV2-70, IGHV2-70D, IGHV3-11, IGHV3-13, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-64D, IGHV3-66, IGHV3-7, IGHV3-72, IGHV3-73, IGHV3-74, IGHV4-28, IGHV4-30-2, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-10-1, IGHV5-51, IGHV6-1, IGHV7-4-1, IGHV7-81, INF2, IRF2BPL, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, KCNK10, KCNK13, KIF26A, KIF26A-DT, KLC1, LBHD2, LGMN, LIN52, LINC00221, LINC00226, LINC00239, LINC00341, LINC00523, LINC00524, LINC00605, LINC00618, LINC00638, LINC00642, LINC00677, LINC00911, LINC01146, LINC01147, LINC01148, LINC01220, LINC01467, LINC01550, LINC01629, LINC02274, LINC02280, LINC02285, LINC02287, LINC02288, LINC02289, LINC02291, LINC02292, LINC02295, LINC02296, LINC02298, LINC02299, LINC02301, LINC02304, LINC02305, LINC02308, LINC02309, LINC02311, LINC02312, LINC02314, LINC02316, LINC02317, LINC02318, LINC02320, LINC02321, LINC02323, LINC02325, LINC02328, LINC02329, LINC02330, LINC02691, LINC02833, LINC02914, LOC100506476, LOC100507437, LOC101928504, LOC101928909, LOC105370579, LOC105370586, LOC105370619, LOC105370622, LOC105370687, LOC105370697, LOC105378183, LOC107984703, LOC108251794, LOC108348026, LOC108663987, LOC110120910, LOC110121354, LOC110121372, LOC110121376, LOC110121377, LOC110121422, LOC110121459, LOC110121463, LOC110121490, LOC111413013, LOC111413041, LOC111556149, LOC111591503, LOC111721711, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, LRRC74A, LTBP2, MARK3, MEG3, MEG8, MEG9, MIDEAS, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR2392, MIR299, MIR300, MIR3173, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR337, MIR342, MIR345, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR4309, MIR431, MIR432, MIR433, MIR4505, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4709, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6764, MIR6765, MIR758, MIR7641-2, MIR770, MIR8071-1, MIR8071-2, MIR889, MLH3, MOAP1, MOK, MTA1, NDUFB1, NEK9, NGB, NOXRED1, NPC2, NRDE2, NRXN3, NUDT14, OTUB2, PACS2, PAPOLA, PAPOLA-DT, PGF, PLD4, PNMA1, POMT2, PPP1R13B, PPP1R13B-DT, PPP2R5C, PPP4R3A, PPP4R4, PRIMA1, PROX2, PSMC1, PTGR2, PTPN21, RCOR1, RD3L, RIN3, RPS6KA5, RPS6KL1, RTL1, SAMD15, SCARNA13, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SIVA1, SLC24A4, SLC25A29, SLC25A47, SLIRP, SNHG10, SNHG23, SNHG24, SNORA11B, SNORA28, SNORA79, SNORD112, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD3P3, SNW1, SPATA7, SPTLC2, STON2, SYNDIG1L, SYNE3, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEX22, TGFB3, TMED10, TMED8, TMEM121, TMEM179, TMEM251, TMEM63C, TNFAIP2, TRA-AGC15-1, TRAF3, TRI-AAT5-4, TRIP11, TRMT61A, TSHR, TTC7B, TTC8, TTLL5, TUNAR, UBR7, UNC79, VASH1, VASH1-AS1, VIPAS39, VRK1, VRTN, VSX2, WARS1, WDR20, WDR25, XRCC3, YLPM1, YY1, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFYVE21, ZNF410, ZNF839
See casesPathogenic
(Apr 30, 2010)
no assertion criteria providedVCV000144518
4.
GRCh37:
Chr14:77689138-107287505
GRCh38:
Chr14:77222795-106879298
ADCK1, ADSS1, AHNAK2, AHSA1, AK7, AKT1, ALKBH1, AMN, ANKRD9, ASB2, ASPG, ATG2B, ATP5MJ, ATXN3, BAG5, BCL11B, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, BTBD7, C14orf132, C14orf178, C14orf180, C14orf99, CALM1, CATSPERB, CCDC197, CCDC85C, CCDC88C, CCDC88C-DT, CCNK, CDC42BPB, CDCA4, CEP128, CEP170B, CHGA, CINP, CKB, CLBA1, CLMN, COA8, COX8C, CPSF2, CRIP1, CRIP2, CYP46A1, DDX24, DEGS2, DGLUCY, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLK1, DYNC1H1, EFCAB11, EIF5, EML1, EML5, EVL, EXOC3L4, FAM181A, FAM181A-AS1, FAM30A, FBLN5, FLRT2, FLRT2-AS1, FOXN3, FOXN3-AS1, FOXN3-AS2, GALC, GLRX5, GOLGA5, GON7, GPR132, GPR65, GPR68, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, HHIPL1, HSP90AA1, IFI27, IFI27L1, IFI27L2, IGH, IGHA1, IGHA2, IGHD, IGHD1-1, IGHD1-14, IGHD1-20, IGHD1-26, IGHD1-7, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHD3-22, IGHD3-3, IGHD3-9, IGHD4-11, IGHD4-17, IGHD4-23, IGHD4-4, IGHD5-12, IGHD5-18, IGHD5-24, IGHD5-5, IGHD6-13, IGHD6-19, IGHD6-25, IGHD6-6, IGHD7-27, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-69-2, IGHV1-69D, IGHV2-26, IGHV2-5, IGHV2-70, IGHV2-70D, IGHV3-11, IGHV3-13, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-64D, IGHV3-66, IGHV3-7, IGHV3-72, IGHV3-73, IGHV3-74, IGHV4-28, IGHV4-30-2, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-10-1, IGHV5-51, IGHV6-1, IGHV7-4-1, IGHV7-81, INF2, ISM2, ITPK1, ITPK1-AS1, JAG2, KCNK10, KCNK13, KIF26A, KIF26A-DT, KLC1, LBHD2, LGMN, LINC00221, LINC00226, LINC00239, LINC00341, LINC00523, LINC00524, LINC00605, LINC00618, LINC00638, LINC00642, LINC00677, LINC00911, LINC01146, LINC01147, LINC01148, LINC01467, LINC01550, LINC02280, LINC02285, LINC02287, LINC02291, LINC02292, LINC02295, LINC02296, LINC02298, LINC02299, LINC02301, LINC02304, LINC02305, LINC02308, LINC02309, LINC02311, LINC02312, LINC02314, LINC02316, LINC02317, LINC02318, LINC02320, LINC02321, LINC02323, LINC02325, LINC02328, LINC02329, LINC02330, LINC02691, LINC02833, LINC02914, LOC100507437, LOC101928504, LOC101928909, LOC105370586, LOC105370619, LOC105370622, LOC105370687, LOC105370697, LOC105378183, LOC107984703, LOC108251794, LOC108348026, LOC108663987, LOC110120910, LOC110121354, LOC110121377, LOC110121463, LOC111413041, LOC111556149, LOC111591503, LOC111721711, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939941, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, MARK3, MEG3, MEG8, MEG9, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR2392, MIR299, MIR300, MIR3173, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR337, MIR342, MIR345, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR4309, MIR431, MIR432, MIR433, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6764, MIR6765, MIR758, MIR770, MIR8071-1, MIR8071-2, MIR889, MOAP1, MOK, MTA1, NDUFB1, NGB, NOXRED1, NRDE2, NRXN3, NUDT14, OTUB2, PACS2, PAPOLA, PAPOLA-DT, PLD4, POMT2, PPP1R13B, PPP1R13B-DT, PPP2R5C, PPP4R3A, PPP4R4, PRIMA1, PSMC1, PTPN21, RCOR1, RD3L, RIN3, RPS6KA5, RTL1, SAMD15, SCARNA13, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SIVA1, SLC24A4, SLC25A29, SLC25A47, SLIRP, SNHG10, SNHG23, SNHG24, SNORA11B, SNORA28, SNORA79, SNORD112, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD3P3, SNW1, SPATA7, SPTLC2, STON2, SYNE3, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEX22, TMED8, TMEM121, TMEM179, TMEM251, TMEM63C, TNFAIP2, TRA-AGC15-1, TRAF3, TRI-AAT5-4, TRIP11, TRMT61A, TSHR, TTC7B, TTC8, TUNAR, UBR7, UNC79, VIPAS39, VRK1, WARS1, WDR20, WDR25, XRCC3, YY1, ZBTB42, ZC3H14, ZFYVE21, ZNF839
See casesPathogenic
(Apr 5, 2012)
no assertion criteria providedVCV000149176
5.
GRCh37:
Chr14:84378689-107263620
GRCh38:
Chr14:83912345-106855405
C14orf132, MIR1185-2, TRA-AGC15-1, SNORD114-5, IGHV4-39, RCOR1, GSKIP, LINC02328, LOC116268463, IGHV2-26, IGHD5-18, CCDC88C, MIR654, JAG2, LOC121529656, RTL1, SERPINA3, LOC121838599, IGHV3-30, GOLGA5, LINC02316, IGHV1-69D, SNHG23, LOC110121463, MIR379, KCNK13, SNORD114-20, IGHA1, HHIPL1, LOC105370687, LINC01550, YY1, BRF1, SNORD112, MIR6764, LINC02330, LINC02299, MIR1193, DICER1-AS1, SNORD114-14, SNORD113-6, IGHV3-38, MIR8071-2, SNORD114-10, MIR494, MIR4309, IGHD2-2, IGHD4-17, SERPINA5, LOC116268460, KIF26A-DT, LINC02329, SERPINA6, IGHV1-45, COX8C, LINC01146, SNORD113-7, LINC02304, MIR485, SLC25A47, SIVA1, C14orf180, SNORD114-27, GPR65, IGHV3-11, IGHD6-25, SNORD114-3, LINC02292, ZC3H14, GPR132, IGHV1-3, LOC121529655, MIR487B, MIR376A2, LOC110121377, LOC121838602, SLC24A4, BDKRB1, CCNK, TEDC1, FLRT2, IGHV3-21, IGHD4-11, TTC8, SNORA28, SNORD114-6, LOC112272572, ITPK1-AS1, IGHV1-69, TCL1B, WARS1, SNORD114-24, SNORD114-29, ATXN3, IGHD1-26, LOC121529660, SNORD113-9, TNFAIP2, PPP4R3A, ANKRD9, ASB2, MIR376B, LINC02317, MIR4710, MIR432, IGHG1, IGHV4-34, PRIMA1, SNORD114-26, IGHV2-70D, DIO3OS, OTUB2, TDP1, DDX24, LOC111721711, FOXN3-AS1, LOC112272566, TECPR2, LOC112163684, LINC02833, LOC101928909, IGHD1-20, IGHV4-31, MIR1247, MIR543, IGHV4-28, LOC116268464, DLK1, LINC00911, SNORD114-28, LINC02285, SNORD114-23, SNORD114-4, IGHJ6, SNORD114-16, WDR20, IGHV5-10-1, ZNF839, BEGAIN, IGHD7-27, IGHV3-13, MIR4538, LINC02325, LOC108348026, SERPINA11, SNORD113-3, NRDE2, FBLN5, IGHJ4, LINC00605, MIR380, MIR4506, MIR136, MIR370, IGHM, SERPINA2, SCARNA13, INF2, MIR151B, GON7, PLD4, IGHV5-51, LINC02298, TRAF3, CHGA, GLRX5, ZBTB42, SNORD114-18, LOC105378183, MIR541, IGHD5-5, TMEM179, BCL11B, LBHD2, LOC121838600, IGHV3-49, MIR758, SNORD114-21, CRIP1, LOC111413041, LINC02280, IGHV3-35, MIR431, KLC1, SNORD114-19, MIR369, MEG8, NDUFB1, MIR203B, DICER1, PACS2, IGHV3-73, LINC02321, SERPINA4, LOC112272567, SPATA7, LINC02287, IGHV3-48, LOC112272573, TUNAR, IGHV2-5, IGHV1-24, IGHD6-13, MIR127, MIR329-1, LGMN, DEGS2, PPP2R5C, IGHD1-7, IGHD2-8, MIR496, LOC112163682, MTA1, SNHG10, CDC42BPB, LOC112272561, XRCC3, KCNK10, ITPK1, MIR487A, MIR134, IGHD1-1, IGHD6-19, EML5, LOC112163680, LOC116268461, MIR668, SNORD114-15, LOC107984703, EVL, CINP, IGHV1-58, IGHV3-64, PPP1R13B, MIR5195, FOXN3, IGHD5-24, LINC02320, SERPINA10, MIR2392, MIR345, MIR8071-1, SNORD114-30, CEP170B, MIR410, TDRD9, SNORD113-8, IGHV3-74, IGHD5-12, TCL6, IFI27L1, ADSS1, MIR495, SNORD114-7, MIR3173, TEX22, PSMC1, MIR4507, MIR539, TCL1A, IGHV2-70, SNORD113-4, MIR1197, LINC02691, IGHA2, SNORA11B, LOC121529657, BDKRB2, LINC00221, LOC100507437, GSC-DT, EFCAB11, AMN, LINC02291, SERPINA12, LINC02296, MIR329-2, FLRT2-AS1, LOC116268462, PPP4R4, IGHD6-6, DIO3, LINC00618, LOC112163685, SNHG24, SNORD114-13, CCDC197, TC2N, KIF26A, IGHV3-20, CCDC88C-DT, LOC121529658, TTC7B, CALM1, FAM181A, IGHG2, IGHJ5, LOC113939941, TMEM121, LINC02323, TRMT61A, LINC00524, LINC00677, ATP5MJ, LINC02309, IGHJ3, CCDC85C, IGHV4-61, SETD3, CKB, SNORD114-25, MIR493, EML1, SERPINA1, IGHV3-16, SNORD113-2, IGHV3-7, MIR544A, IGHV3-43, SNORD114-1, LINC02318, IGHD, LINC00523, MOAP1, IGHD3-10, IGHJ1, IGHD3-16, LOC121529659, EIF5, MIR4537, UBR7, CATSPERB, IGHG3, IGHG4, MIR381, LOC105370622, MIR655, IGHV4-30-2, LOC112163681, CYP46A1, IGHV4-4, LINC02312, IGHV1-46, AHNAK2, C14orf99, IGHE, MIR433, MIR409, MIR6765, AK7, LINC00642, LOC112163683, SNORD114-11, IGHJ2, IGHV3-66, WDR25, GALC, MIR411, RPS6KA5, IGHV1-18, MIR382, DGLUCY, IGHV3-33, IFI27L2, BTBD7, SNORD114-2, MEG3, LINC01148, LOC112163679, ZFYVE21, MIR4539, IGHV3-64D, ATG2B, MIR381HG, LOC110120910, SNORD114-12, SNORD114-9, IGHD4-4, LOC108663987, IGHV1-2, IGHV3-23, TRIP11, COA8, BTBD6, PAPOLA-DT, PPP1R13B-DT, LINC01147, SNORD114-31, IGHV3-72, MIR154, MIR300, SLC25A29, LINC02295, IGHD3-22, HSP90AA1, GSC, MIR342, LOC105370697, LOC112272569, IGHD2-21, TRI-AAT5-4, CLMN, LINC00239, MIR377, IGHV4-59, SERPINA9, MOK, LOC112272568, CDCA4, TMEM251, IGHV1-69-2, MIR323B, CPSF2, MARK3, LINC02914, LOC112272570, IGHD3-9, IGHD1-14, SNORD113-1, LINC00638, LOC105370619, FAM181A-AS1, MIR889, LINC00226, LINC00341, LOC112272571, IGHD3-3, MIR376C, MIR656, MIR1185-1, SYNE3, VRK1, FAM30A, IGHD4-23, MEG9, MIR299, IGHV3-15, BAG5, LOC121529654, NUDT14, IGH, MIR12121, LINC02314, SNORD113-5, MIR770, PAPOLA, AKT1, LINC02305, IGHV3-53, DYNC1H1, MIR203A, MIR665, EXOC3L4, IFI27, FOXN3-AS2, UNC79, LOC121838601, RIN3, SNORD114-8, IGHV7-4-1, MIR323A, SNORD114-17, ASPG, SNORD3P3, MIR412, IGHV6-1, IGHD2-15, RD3L, CRIP2, MIR376A1, SNORD114-22, CLBA1, PTPN21, MIR337, GPR68
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058525
6.
GRCh37:
Chr14:86560374-107240869
GRCh38:
Chr14:86094030-106832642
LINC02295, ADSS1, MIR323B, SNORD114-3, IGHD1-7, MIR12121, JAG2, LOC121529660, MIR329-2, MIR1185-1, IGH, TRIP11, HSP90AA1, LOC105370622, LINC00221, IGHD5-24, SNORD114-2, LOC121838601, CDCA4, IGHV3-64, SNORD114-27, DLK1, IGHV2-5, MIR4507, LGMN, LOC116268462, IGHV3-11, MIR433, SNORD114-6, EFCAB11, SNORA28, SNORD114-31, MARK3, LINC01148, CATSPERB, KLC1, DICER1, IGHG4, CCDC88C-DT, MIR3173, MIR151B, CRIP1, MIR431, EML1, SNORD114-28, DICER1-AS1, ASB2, SNORD114-17, IGHD1-26, MIR889, LOC111721711, WDR20, IGHV3-74, IGHD6-13, IGHV5-10-1, TMEM251, EXOC3L4, SNORD114-23, LOC112163679, RCOR1, TDRD9, SNORD114-5, SLC25A29, MIR300, IGHD1-1, GLRX5, SNORD114-16, XRCC3, SNORD114-26, LOC121838602, ZNF839, SNORD114-19, PACS2, TEDC1, MIR329-1, MIR382, ATG2B, IGHV3-21, KCNK10, SNORD114-14, CYP46A1, PPP2R5C, UBR7, LOC107984703, MOAP1, OTUB2, IGHV1-69, C14orf132, ATXN3, SNORD113-6, MIR337, IGHV1-24, MIR6765, MIR381, IGHE, IGHM, IGHV3-38, LOC112272572, CALM1, CCNK, SERPINA6, LINC00523, MIR495, IGHD5-18, SNORD114-15, TTC8, IGHD4-23, SNORD113-9, SNORD113-2, IGHV1-69-2, NRDE2, SNORD114-11, FAM181A, MIR494, LINC02323, MIR656, SNORD114-25, LINC02291, AHNAK2, IGHV1-58, SERPINA4, LINC00524, SNORD113-1, CKB, MOK, MIR370, LINC02328, PPP1R13B, SNORD112, MTA1, IGHV4-39, IGHJ4, MIR539, MIR6764, IGHD1-14, SNORD114-12, KCNK13, MIR409, LOC121838599, GALC, LOC116268461, LOC105370697, IGHD5-5, MIR369, LINC00677, BTBD7, IGHG2, MIR665, LINC01147, MIR377, MEG9, FOXN3-AS1, IGHD2-15, SPATA7, MIR136, MIR412, MIR411, LOC112272569, MIR1193, LOC121529654, NUDT14, ITPK1-AS1, TCL1B, IGHV3-30, IGHD3-16, IGHV3-64D, HHIPL1, MIR376A1, DIO3, SERPINA2, IGHD4-11, MIR1185-2, PLD4, TMEM121, IGHJ6, CCDC88C, ANKRD9, IGHG3, FOXN3, LINC02330, SIVA1, LINC00341, MEG8, MIR299, GOLGA5, LINC00618, RD3L, IGHD6-19, AK7, MIR1197, SERPINA3, YY1, MIR496, LOC111413041, MIR493, SLC25A47, IGHV3-72, GON7, SNORD114-13, MIR379, LOC108348026, MIR758, ATP5MJ, SYNE3, IGHD6-6, IGHJ5, BDKRB1, GSC, LINC02914, IGHV2-70, WARS1, LINC02325, IFI27, FBLN5, COX8C, LOC116268460, RIN3, IGHV4-30-2, LINC02314, LOC112272573, IGHV3-49, MIR432, MIR410, LOC121529658, LOC110121377, SNORD114-18, TRA-AGC15-1, LINC02285, LOC110121463, GPR68, IGHV4-4, MIR342, IGHV3-20, SERPINA9, SNORA11B, LINC02299, LINC02296, LOC121529659, IGHV1-45, IGHV6-1, FAM30A, DDX24, ZBTB42, TMEM179, LINC00605, GPR132, C14orf99, IGHV1-2, TRAF3, IGHD6-25, LINC00226, IGHV3-66, EML5, MIR1247, LOC112272570, CDC42BPB, LOC112163681, SNORD114-4, MIR770, CLMN, GSKIP, MIR668, IGHD3-9, BDKRB2, IGHD4-17, LINC02287, IGHD4-4, BEGAIN, SNHG23, RPS6KA5, IGHV3-23, TNFAIP2, INF2, IGHD3-3, IGHV1-18, SNORD114-24, IFI27L1, SCARNA13, LOC101928909, MIR4537, MIR127, LINC02317, LINC00642, IGHV4-61, EVL, TC2N, IGHD, MIR4710, LINC00638, BCL11B, LINC02691, DYNC1H1, TRMT61A, SNORD113-8, MIR4506, DGLUCY, IGHV4-31, FAM181A-AS1, LOC105370619, CLBA1, LOC112272567, TUNAR, SERPINA10, MIR203B, BRF1, ZC3H14, MIR345, LINC02309, MIR376A2, AMN, SNHG24, SNORD113-4, MIR4309, CEP170B, LOC112272561, MIR541, RTL1, LINC01550, COA8, MIR544A, GPR65, SNHG10, LINC02320, PPP4R4, LOC112163684, IGHV3-13, CINP, IGHV3-73, UNC79, LOC116268464, MIR8071-2, LOC112163680, SNORD114-29, MIR485, CCDC85C, CPSF2, TDP1, DIO3OS, LBHD2, LINC02304, SNORD114-21, LOC113939941, SNORD113-7, KIF26A, LOC112272566, IGHV4-28, MIR376B, IGHV1-69D, PPP4R3A, IGHV5-51, IGHV3-48, MIR2392, LINC02318, IGHV3-53, SNORD113-3, IGHV3-43, SNORD114-9, LOC110120910, IGHV2-70D, PAPOLA, IGHJ2, LINC01146, SNORD114-22, MIR323A, MEG3, LOC112163683, IGHD2-8, PAPOLA-DT, LOC112272571, IGHD3-10, NDUFB1, IGHG1, IGHD2-21, LINC00239, MIR4538, TEX22, WDR25, IGHV1-3, ASPG, LINC02292, LOC108663987, GSC-DT, C14orf180, LOC100507437, LINC02312, MIR381HG, DEGS2, LOC112163682, SETD3, LOC112163685, ITPK1, LOC105378183, PPP1R13B-DT, LINC02833, MIR655, PRIMA1, SNORD114-7, SNORD114-20, IGHD5-12, LOC105370687, IGHD3-22, SNORD114-10, CRIP2, SLC24A4, SERPINA12, SERPINA11, LINC02321, MIR380, CCDC197, LOC121529655, TCL1A, IGHV4-34, IGHD7-27, MIR203A, PTPN21, SNORD114-30, IGHV1-46, IGHV3-7, IGHD2-2, IGHV3-33, EIF5, SNORD114-1, TTC7B, LINC02298, ZFYVE21, BTBD6, SERPINA5, MIR4539, CHGA, BAG5, IGHJ3, LOC121529656, IFI27L2, KIF26A-DT, LOC121529657, MIR154, MIR543, IGHV3-16, LOC116268463, MIR134, IGHV4-59, IGHV2-26, SNORD114-8, MIR654, IGHA1, MIR487B, IGHD1-20, IGHV3-35, SNORD113-5, MIR487A, FOXN3-AS2, PSMC1, MIR376C, TECPR2, IGHJ1, LINC02280, IGHV7-4-1, IGHV3-15, LOC121838600, IGHA2, SERPINA1, LOC112272568, MIR8071-1, TRI-AAT5-4, VRK1, AKT1, TCL6
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058526
7.
GRCh37:
Chr14:86621763-88788079
GRCh38:
Chr14:86155419-88321735
GALC, GPR65, KCNK10, LINC01146, LINC01147, LINC01148, LINC02296, LINC02309, LINC02330See casesLikely benign
(Jun 1, 2012)
no assertion criteria providedVCV000149167
8.
GRCh37:
Chr14:88212824-89006498
GRCh38:
Chr14:87746480-88540154
GALC, GPR65, KCNK10, LINC01146, LINC01147, PTPN21, SPATA7See casesUncertain significance
(Jan 30, 2010)
no assertion criteria providedVCV000144379
9.
GRCh37:
Chr14:88391483
GRCh38:
Chr14:87925139
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Oct 10, 2017)
criteria provided, single submitterVCV000549887
10.
GRCh37:
Chr14:88391496
GRCh38:
Chr14:87925152
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Aug 25, 2017)
criteria provided, single submitterVCV000553480
11.
GRCh38:
Chr14:87925163-87956828
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Jul 3, 2020)
criteria provided, single submitterVCV001184375
12.
GRCh37:
Chr14:88391520
GRCh38:
Chr14:87925176
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Aug 30, 2017)
criteria provided, single submitterVCV000553596
13.
GRCh37:
Chr14:88399451
GRCh38:
Chr14:87933107
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887448
14.
GRCh37:
Chr14:88399478
GRCh38:
Chr14:87933134
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000887449
15.
GRCh37:
Chr14:88399488
GRCh38:
Chr14:87933144
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000314727
16.
GRCh37:
Chr14:88399488-88419358
GRCh38:
Chr14:87933144-87953014
GALCNormal pregnancynot providedno assertion providedVCV000157318
17.
GRCh37:
Chr14:88399492
GRCh38:
Chr14:87933148
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000887632
18.
GRCh37:
Chr14:88399618
GRCh38:
Chr14:87933274
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000314728
19.
GRCh37:
Chr14:88399623
GRCh38:
Chr14:87933279
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314729
20.
GRCh37:
Chr14:88399625
GRCh38:
Chr14:87933281
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000314730
21.
GRCh37:
Chr14:88399801
GRCh38:
Chr14:87933457
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000314731
22.
GRCh37:
Chr14:88399888-88399890
GRCh38:
Chr14:87933544-87933546
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000314732
23.
GRCh37:
Chr14:88399950
GRCh38:
Chr14:87933606
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000314733
24.
GRCh37:
Chr14:88400077
GRCh38:
Chr14:87933733
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887633
25.
GRCh37:
Chr14:88400082
GRCh38:
Chr14:87933738
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884481
26.
GRCh37:
Chr14:88400087
GRCh38:
Chr14:87933743
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314734
27.
GRCh37:
Chr14:88400199
GRCh38:
Chr14:87933855
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884482
28.
GRCh37:
Chr14:88400275
GRCh38:
Chr14:87933931
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000314735
29.
GRCh37:
Chr14:88400353
GRCh38:
Chr14:87934009
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000314736
30.
GRCh37:
Chr14:88400367
GRCh38:
Chr14:87934023
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000314737
31.
GRCh37:
Chr14:88400449
GRCh38:
Chr14:87934105
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314738
32.
GRCh37:
Chr14:88400450
GRCh38:
Chr14:87934106
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314739
33.
GRCh37:
Chr14:88400485
GRCh38:
Chr14:87934141
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000314740
34.
GRCh37:
Chr14:88400486
GRCh38:
Chr14:87934142
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314741
35.
GRCh37:
Chr14:88400577
GRCh38:
Chr14:87934233
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885422
36.
GRCh37:
Chr14:88400590
GRCh38:
Chr14:87934246
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885423
37.
GRCh37:
Chr14:88400621
GRCh38:
Chr14:87934277
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885424
38.
GRCh37:
Chr14:88400671
GRCh38:
Chr14:87934327
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886438
39.
GRCh37:
Chr14:88400681
GRCh38:
Chr14:87934337
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314742
40.
GRCh37:
Chr14:88400687
GRCh38:
Chr14:87934343
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000886439
41.
GRCh37:
Chr14:88400701
GRCh38:
Chr14:87934357
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886440
42.
GRCh37:
Chr14:88400710
GRCh38:
Chr14:87934366
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886441
43.
GRCh37:
Chr14:88400713
GRCh38:
Chr14:87934369
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000886442
44.
GRCh37:
Chr14:88401056-88416295
GRCh38:
Chr14:87934712-87949951
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Sep 28, 2018)
criteria provided, single submitterVCV000655243
45.
GRCh37:
Chr14:88401056-88417112
GRCh38:
Chr14:87934712-87950768
GALCGalactosylceramide beta-galactosidase deficiencyPathogenic
(Dec 17, 2019)
criteria provided, single submitterVCV000456710
46.
GRCh37:
Chr14:88401062
GRCh38:
Chr14:87934718
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Sep 29, 2017)
criteria provided, single submitterVCV000554205
47.
GRCh37:
Chr14:88401064
GRCh38:
Chr14:87934720
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Aug 16, 2017)
criteria provided, single submitterVCV000553369
48.
GRCh37:
Chr14:88401078
GRCh38:
Chr14:87934734
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Oct 7, 2020)
criteria provided, single submitterVCV001066870
49.
GRCh37:
Chr14:88401079
GRCh38:
Chr14:87934735
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Jun 25, 2020)
criteria provided, single submitterVCV001159697
50.
GRCh37:
Chr14:88401081
GRCh38:
Chr14:87934737
GALCR685S, R662S, R659SGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000314743
51.
GRCh37:
Chr14:88401093
GRCh38:
Chr14:87934749
GALCV681M, V655M, V658Mnot provided, Galactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Oct 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000208291
52.
GRCh37:
Chr14:88401094
GRCh38:
Chr14:87934750
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Sep 12, 2019)
criteria provided, single submitterVCV001122760
53.
GRCh37:
Chr14:88401094-88401098
GRCh38:
Chr14:87934750-87934754
GALCF653fs, F656fs, F679fsGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Aug 11, 2020)
criteria provided, single submitterVCV001067094
54.
GRCh37:
Chr14:88401094-88401097
GRCh38:
Chr14:87934750-87934753
GALCF679fs, F656fs, F653fsGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Dec 4, 2019)
criteria provided, single submitterVCV000841901
55.
GRCh37:
Chr14:88401099
GRCh38:
Chr14:87934755
GALCF679L, F656L, F653Lnot specifiedUncertain significance
(Oct 23, 2017)
criteria provided, single submitterVCV000633227
56.
GRCh37:
Chr14:88401100
GRCh38:
Chr14:87934756
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Oct 4, 2020)
criteria provided, single submitterVCV000742320
57.
GRCh37:
Chr14:88401112
GRCh38:
Chr14:87934768
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Mar 14, 2019)
criteria provided, single submitterVCV001105984
58.
GRCh37:
Chr14:88401132
GRCh38:
Chr14:87934788
GALCT642P, T645P, T668PGalactosylceramide beta-galactosidase deficiencyPathogenic
(Feb 14, 2019)
criteria provided, single submitterVCV000857343
59.
GRCh37:
Chr14:88401133
GRCh38:
Chr14:87934789
GALCGalactosylceramide beta-galactosidase deficiencyConflicting interpretations of pathogenicity
(Aug 14, 2020)
criteria provided, conflicting interpretationsVCV000314744
60.
GRCh37:
Chr14:88401137
GRCh38:
Chr14:87934793
GALCI643T, I666T, I640Tnot providedUncertain significance
(Aug 1, 2017)
criteria provided, single submitterVCV000807156
61.
GRCh37:
Chr14:88401142
GRCh38:
Chr14:87934798
GALCnot provided, Galactosylceramide beta-galactosidase deficiencyLikely benign
(Oct 23, 2018)
criteria provided, single submitterVCV000793368
62.
GRCh37:
Chr14:88401147
GRCh38:
Chr14:87934803
GALCW637fs, W640fs, W663fsGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Oct 8, 2020)
criteria provided, single submitterVCV001066093
63.
GRCh37:
Chr14:88401147
GRCh38:
Chr14:87934803
GALCW640G, W663G, W637GGalactosylceramide beta-galactosidase deficiency, Abnormality of brain morphologyConflicting interpretations of pathogenicity
(Apr 18, 2018)
criteria provided, conflicting interpretationsVCV000402185
64.
GRCh37:
Chr14:88401156
GRCh38:
Chr14:87934812
GALCK660*, K637*, K634*Galactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Mar 24, 2017)
criteria provided, single submitterVCV000551195
65.
GRCh37:
Chr14:88401170
GRCh38:
Chr14:87934826
GALCP629fs, P632fs, P655fsGalactosylceramide beta-galactosidase deficiencyPathogenic
(Sep 18, 2021)
criteria provided, single submitterVCV001298354
66.
GRCh37:
Chr14:88401185
GRCh38:
Chr14:87934841
GALCL650P, L624P, L627Pnot specified, not provided, Galactosylceramide beta-galactosidase deficiency
Uncertain significance
(May 15, 2021)
criteria provided, multiple submitters, no conflictsVCV000555965
67.
GRCh37:
Chr14:88401187
GRCh38:
Chr14:87934843
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Jun 1, 2020)
criteria provided, single submitterVCV001127303
68.
GRCh37:
Chr14:88401192
GRCh38:
Chr14:87934848
GALCK648*, K625*, K622*Galactosylceramide beta-galactosidase deficiencyConflicting interpretations of pathogenicity
(Nov 3, 2021)
criteria provided, conflicting interpretationsVCV000870534
69.
GRCh37:
Chr14:88401200
GRCh38:
Chr14:87934856
GALCL619R, L622R, L645Rnot providedLikely pathogenic
(Oct 15, 2018)
criteria provided, single submitterVCV000988561
70.
GRCh37:
Chr14:88401213-88401214
GRCh38:
Chr14:87934869-87934870
GALCT615A, T618A, T641AGalactosylceramide beta-galactosidase deficiencyLikely benign
(Nov 11, 2020)
criteria provided, single submitterVCV001100101
71.
GRCh37:
Chr14:88401213
GRCh38:
Chr14:87934869
GALCT641A, T618A, T615Anot specified, not provided, Galactosylceramide beta-galactosidase deficiency
Benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000092500
72.
GRCh37:
Chr14:88401222
GRCh38:
Chr14:87934878
GALCG638S, G615S, G612Snot specified, not providedUncertain significance
(Feb 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000194698
73.
GRCh37:
Chr14:88401223
GRCh38:
Chr14:87934879
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Jan 13, 2018)
criteria provided, single submitterVCV000550049
74.
GRCh37:
Chr14:88401228-88401229
GRCh38:
Chr14:87934884-87934885
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Apr 10, 2019)
criteria provided, single submitterVCV001128892
75.
GRCh37:
Chr14:88401229
GRCh38:
Chr14:87934885
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Mar 14, 2020)
criteria provided, single submitterVCV001105015
76.
GRCh37:
Chr14:88401392
GRCh38:
Chr14:87935048
GALCnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000680310
77.
GRCh37:
Chr14:88401442
GRCh38:
Chr14:87935098
GALCnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000680309
78.
GRCh37:
Chr14:88401443
GRCh38:
Chr14:87935099
GALCnot providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001241780
79.
GRCh37:
Chr14:88401460
GRCh38:
Chr14:87935116
GALCnot providedBenign
(Jun 28, 2018)
criteria provided, single submitterVCV001234551
80.
GRCh37:
Chr14:88406120
GRCh38:
Chr14:87939776
GALCnot provided, Galactosylceramide beta-galactosidase deficiencyBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000680307
81.
GRCh37:
Chr14:88406127
GRCh38:
Chr14:87939783
GALCnot provided, Galactosylceramide beta-galactosidase deficiencyBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000680306
82.
GRCh37:
Chr14:88406239
GRCh38:
Chr14:87939895
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV001111049
83.
GRCh37:
Chr14:88406240
GRCh38:
Chr14:87939896
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Jul 17, 2020)
criteria provided, single submitterVCV001096862
84.
GRCh37:
Chr14:88406242
GRCh38:
Chr14:87939898
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(May 14, 2020)
criteria provided, single submitterVCV001122376
85.
GRCh37:
Chr14:88406244-88406248
GRCh38:
Chr14:87939900-87939904
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Mar 21, 2018)
criteria provided, single submitterVCV000557290
86.
GRCh37:
Chr14:88406259
GRCh38:
Chr14:87939915
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Nov 3, 2017)
criteria provided, single submitterVCV000554777
87.
GRCh37:
Chr14:88406259
GRCh38:
Chr14:87939915
GALCL634S, L611S, L608Snot provided, Galactosylceramide beta-galactosidase deficiencyConflicting interpretations of pathogenicity
(Jul 22, 2021)
criteria provided, conflicting interpretationsVCV000225368
88.
GRCh37:
Chr14:88406260-88406264
GRCh38:
Chr14:87939916-87939920
GALCT610fs, T607fs, T633fsnot provided, Galactosylceramide beta-galactosidase deficiencyPathogenic/Likely pathogenic
(Aug 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000555939
89.
GRCh37:
Chr14:88406261
GRCh38:
Chr14:87939917
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Aug 26, 2020)
criteria provided, single submitterVCV001147562
90.
GRCh37:
Chr14:88406261
GRCh38:
Chr14:87939917
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Dec 6, 2020)
criteria provided, single submitterVCV000755469
91.
GRCh37:
Chr14:88406262
GRCh38:
Chr14:87939918
GALCT607M, T610M, T633MGalactosylceramide beta-galactosidase deficiencyConflicting interpretations of pathogenicity
(Jul 13, 2020)
criteria provided, conflicting interpretationsVCV000858517
92.
GRCh37:
Chr14:88406262-88406263
GRCh38:
Chr14:87939918-87939919
GALCT607fs, T633fs, T610fsnot providedLikely pathogenic
(May 17, 2018)
criteria provided, single submitterVCV000424065
93.
GRCh37:
Chr14:88406265
GRCh38:
Chr14:87939921
GALCL632P, L609P, L606PGalactosylceramide beta-galactosidase deficiencyUncertain significance
(May 23, 2017)
criteria provided, single submitterVCV000552101
94.
GRCh37:
Chr14:88406267
GRCh38:
Chr14:87939923
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Jul 14, 2019)
criteria provided, single submitterVCV001078042
95.
GRCh37:
Chr14:88406270
GRCh38:
Chr14:87939926
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Sep 29, 2020)
criteria provided, single submitterVCV001090329
96.
GRCh37:
Chr14:88406270
GRCh38:
Chr14:87939926
GALCY630*, Y604*, Y607*not provided, Galactosylceramide beta-galactosidase deficiencyPathogenic
(Jun 15, 2017)
criteria provided, single submitterVCV000370392
97.
GRCh37:
Chr14:88406273
GRCh38:
Chr14:87939929
GALCW629fs, W603fs, W606fsGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000942480
98.
GRCh37:
Chr14:88406274
GRCh38:
Chr14:87939930
GALCW629L, W606L, W603LGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Aug 8, 2018)
no assertion criteria providedVCV000592145
99.
GRCh37:
Chr14:88406275-88406276
GRCh38:
Chr14:87939931-87939932
GALCW629fs, W603fs, W606fsGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Apr 12, 2018)
criteria provided, single submitterVCV000557679
100.
GRCh37:
Chr14:88406276
GRCh38:
Chr14:87939932
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV001122364
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