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Items: 23

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr14:20468770-39453619
GRCh38:
Chr14:20000611-38984415
ANG, APEX1, ARHGAP5, BCL2L2, CEBPE, CFL2, CMA1, LTB4R, CTSG, DAD1, COCH, FOXG1, GPR33, GZMH, GZMB, FOXA1, HNRNPC, MMP14, MYH6, MYH7, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, OXA1L, PAX9, PCK2, PRKD1, PSMA6, PSMB5, PSME1, PSME2, RABGGTA, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, SRP54, SSTR1, TRA, TRAV6, TRD, TEP1, TGM1, NKX2-1, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, PABPN1, AP1G2, SLC7A7, CPNE6, AKAP6, PRORP, TOX4, REC8, PARP2, DHRS2, EFS, IRF9, PRMT5, TM9SF1, EDDM3A, DHRS4, RIPK3, AP4S1, BAZ1A, SUPT16H, ACIN1, SCFD1, KHNYN, SLC7A8, HECTD1, HEATR5A, NGDN, LRP10, NKX2-8, TINF2, OR10G3, OR10G2, OR4E2, OR4E1, CIDEB, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, CHMP4A, STXBP6, STRN3, SLC39A2, EMC9, ZNF219, GMPR2, SLC22A17, MBIP, HAUS4, PPP2R3C, C14orf119, RNF31, RBM23, DHRS4-AS1, G2E3, OSGEP, ARHGEF40, EAPP, METTL3, LTB4R2, SDR39U1, RPGRIP1, NDRG2, NYNRIN, HOMEZ, CHD8, CCNB1IP1, SNX6, C14orf93, ABHD4, NPAS3, EDDM3B, CDH24, METTL17, IL25, THTPA, OR6J1, IPO4, NUBPL, DCAF11, BRMS1L, JPH4, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, ZFHX2, RPPH1, SLC25A21, CARMIL3, PPP1R3E, PIP4P1, TTC5, EGLN3, DTD2, DHRS1, CMTM5, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4K14, OR4L1, OR11H6, KLHL33, MIPOL1, MDP1, CLEC14A, FITM1, REM2, NOP9, SPTSSA, ADCY4, RALGAPA1, SFTA3, LOC254028, LINC00639, LINC00641, TSSK4, FAM177A1, DHRS4L2, TTC6, SNORD8, RNASE10, OR6S1, LINC01551, OR4Q2, OR4K13, OR4K17, OR4N5, OR11G2, OR11H7, OR11H4, RNASE9, OR5AU1, LINC00517, MIR208A, LINC00596, RNASE13, RNASE12, TMEM253, CBLN3, SNORD9, MIR624, DHRS4L1, LOC728755, TRY-GTA7-1, TRY-GTA5-4, SNORD126, MIR208B, LMLN2, SLC25A21-AS1, TRY-GTA5-5, TRP-TGG3-2, TRL-TAG2-1, TRR-ACG1-3, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-3, MIR3171, MIR4307, PRMT5-AS1, LINC00645, LOC100506071, SRP54-AS1, NKX2-1-AS1, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, MIR4503, MIR4707, PTCSC3, LINC00609, LOC101926933, LOC101927045, LINC02294, MIR4307HG, LOC101927124, LOC101927178, LOC101929718, RNU6-7, RNU6-8, MIR6717, MIR7703, LOC102724814, LINC00596, LINC02293, LINC02327, LINC02588, FOXG1-AS1, MHRT, LINC02332, LOC105370401, LINC02286, LINC02300, LINC02281, LINC02282, LINC02326, G2E3-AS1, LINC02313, EGLN3-AS1, LOC105370457, SNORA89, LOC106799836, LOC106799848, LOC106799849, LOC107372315, SNORA101B, LOC107882126, LOC108281111, LOC108281128, SNORA79B, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120925, LOC110121319, LOC110121326, LOC110121327, LOC110121391, LOC110121392, LOC110121424, LOC110121433, LOC110121504, LOC111365217, LOC111500315, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268124, LOC112268478, LOC112268479, LOC114827851, LOC116268458
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059932
2.
GRCh37:
Chr14:20490852-44562875
GRCh38:
Chr14:20022693-44093672
ANG, APEX1, ARHGAP5, BCL2L2, CEBPE, CFL2, CMA1, LTB4R, CTSG, DAD1, COCH, FOXG1, GPR33, GZMH, GZMB, FOXA1, HNRNPC, MIA2, MMP14, MYH6, MYH7, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, OXA1L, PAX9, PCK2, PNN, PRKD1, PSMA6, PSMB5, PSME1, PSME2, RABGGTA, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, SRP54, SSTR1, TRA, TRAV6, TRD, TEP1, TGM1, NKX2-1, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, PABPN1, GEMIN2, AP1G2, SLC7A7, CPNE6, AKAP6, PRORP, TOX4, REC8, PARP2, DHRS2, EFS, IRF9, PRMT5, SEC23A, TM9SF1, EDDM3A, DHRS4, RIPK3, AP4S1, BAZ1A, HEATR5A, SUPT16H, ACIN1, SCFD1, KHNYN, SLC7A8, HECTD1, NGDN, LRP10, NKX2-8, TINF2, OR10G3, OR10G2, OR4E2, OR4E1, CIDEB, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, CHMP4A, STXBP6, STRN3, SLC39A2, EMC9, ZNF219, GMPR2, SLC22A17, MBIP, HAUS4, PPP2R3C, C14orf119, RNF31, RBM23, DHRS4-AS1, G2E3, OSGEP, ARHGEF40, EAPP, METTL3, LTB4R2, SDR39U1, RPGRIP1, NDRG2, NYNRIN, HOMEZ, CHD8, CCNB1IP1, SNX6, C14orf93, ABHD4, NPAS3, EDDM3B, CDH24, METTL17, IL25, THTPA, OR6J1, IPO4, NUBPL, DCAF11, BRMS1L, JPH4, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, ZFHX2, RPPH1, SLC25A21, CARMIL3, PPP1R3E, PIP4P1, TTC5, EGLN3, DTD2, DHRS1, CMTM5, TRAPPC6B, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4L1, OR11H6, KLHL33, MIPOL1, MDP1, LRFN5, CLEC14A, FITM1, REM2, NOP9, SPTSSA, ADCY4, RALGAPA1, SFTA3, LOC254028, FBXO33, LINC00639, LINC00641, TSSK4, FAM177A1, DHRS4L2, TTC6, SNORD8, RNASE10, OR6S1, LINC01551, OR4K13, OR4K17, OR4N5, OR11G2, OR11H7, OR11H4, RNASE9, OR5AU1, LINC00517, MIR208A, LINC00596, RNASE13, RNASE12, TMEM253, CBLN3, LINC02315, SNORD9, MIR624, DHRS4L1, LOC728755, TRY-GTA7-1, TRY-GTA5-4, SNORD126, MIR208B, LMLN2, SLC25A21-AS1, TRY-GTA5-5, TRP-TGG3-2, TRL-TAG2-1, TRR-ACG1-3, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-3, LOC100288846, MIR3171, MIR4307, PRMT5-AS1, LINC00645, LOC100506071, SRP54-AS1, NKX2-1-AS1, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, MIR4503, MIR4707, PTCSC3, LINC00609, LOC101926933, LOC101927045, LINC02294, MIR4307HG, LOC101927124, LOC101927178, LOC101929718, RNU6-7, RNU6-8, MIR6717, MIR7703, LOC102724814, LINC00596, LINC02293, LINC02327, LINC02588, FOXG1-AS1, MHRT, LINC02332, LOC105370401, LINC02286, LINC02300, LINC02281, LINC02282, LINC02326, G2E3-AS1, LINC02313, EGLN3-AS1, LOC105370457, SEC23A-AS1, LINC02307, SNORA89, LOC106799836, LOC106799848, LOC106799849, LOC107372315, SNORA101B, LOC107882126, LOC108281111, LOC108281128, SNORA79B, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120925, LOC110121319, LOC110121326, LOC110121327, LOC110121391, LOC110121392, LOC110121424, LOC110121433, LOC110121504, LOC111365217, LOC111500315, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268124, LOC112268478, LOC112268479, LOC114827851, LOC116268458
See casesPathogenic
(Jan 9, 2013)
no assertion criteria providedVCV000155119
3.
GRCh37:
Chr14:20511672-49111245
GRCh38:
Chr14:20043513-48642042
ANG, APEX1, ARHGAP5, BCL2L2, CEBPE, CFL2, CMA1, LTB4R, CTSG, DAD1, COCH, FKBP3, FOXG1, GPR33, GZMH, GZMB, FOXA1, HNRNPC, MIA2, MMP14, MYH6, MYH7, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, OXA1L, PAX9, PCK2, PNN, PRKD1, PSMA6, PSMB5, PSME1, PSME2, RABGGTA, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, SRP54, SSTR1, TRA, TRAV6, TRD, TEP1, TGM1, NKX2-1, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, PABPN1, GEMIN2, AP1G2, SLC7A7, CPNE6, AKAP6, PRORP, TOX4, REC8, PARP2, DHRS2, EFS, IRF9, PRMT5, SEC23A, TM9SF1, EDDM3A, DHRS4, RIPK3, AP4S1, BAZ1A, SUPT16H, ACIN1, TOGARAM1, SCFD1, KHNYN, SLC7A8, HECTD1, HEATR5A, NGDN, LRP10, NKX2-8, TINF2, OR10G3, OR10G2, OR4E2, OR4E1, CIDEB, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, CHMP4A, STXBP6, STRN3, SLC39A2, EMC9, ZNF219, GMPR2, SLC22A17, MBIP, KLHL28, HAUS4, PPP2R3C, PRPF39, C14orf119, RNF31, RBM23, MIS18BP1, DHRS4-AS1, G2E3, OSGEP, ARHGEF40, EAPP, METTL3, LTB4R2, SDR39U1, RPGRIP1, NDRG2, NYNRIN, HOMEZ, CHD8, FANCM, CCNB1IP1, SNX6, C14orf93, ABHD4, NPAS3, EDDM3B, CDH24, METTL17, IL25, THTPA, OR6J1, IPO4, NUBPL, DCAF11, FSCB, BRMS1L, JPH4, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, ZFHX2, RPPH1, SLC25A21, CARMIL3, PPP1R3E, PIP4P1, TTC5, EGLN3, DTD2, DHRS1, CMTM5, C14orf28, TRAPPC6B, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4L1, OR11H6, KLHL33, RPL10L, MIPOL1, MDP1, LRFN5, CLEC14A, FITM1, REM2, MDGA2, NOP9, SPTSSA, ADCY4, RALGAPA1, SFTA3, LOC254028, FBXO33, LINC00639, LINC00641, TSSK4, FAM177A1, DHRS4L2, TTC6, SNORD8, RNASE10, OR6S1, LINC01551, OR4K17, OR4N5, OR11G2, OR11H7, OR11H4, RNASE9, OR5AU1, LINC00517, MIR208A, LINC00596, RNASE13, RNASE12, TMEM253, CBLN3, LINC02315, SNORD9, MIR624, DHRS4L1, LOC728755, TRY-GTA7-1, TRY-GTA5-4, SNORD127, SNORD126, MIR208B, LMLN2, SLC25A21-AS1, TRY-GTA5-5, TRP-TGG3-2, TRL-TAG2-1, TRR-ACG1-3, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-3, LOC100288846, MIR3171, MIR4307, MIR548Y, PRMT5-AS1, LINC00645, LOC100506071, SRP54-AS1, NKX2-1-AS1, LINC00871, LINC00648, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, MIR4503, MIR4707, PTCSC3, LINC00609, LOC101926933, LOC101927045, LINC02294, MIR4307HG, LOC101927124, LOC101927178, LINC02302, LOC101927418, LOC101929718, RNU6-7, RNU6-8, MIR6717, MIR7703, LOC102724814, LINC00596, LINC02293, LINC02327, LINC02588, FOXG1-AS1, MHRT, LINC02332, LOC105370401, LINC02286, LINC02300, LINC02281, LINC02282, LINC02326, G2E3-AS1, LINC02313, EGLN3-AS1, LOC105370457, SEC23A-AS1, LINC02307, LOC105370473, LINC02303, SNORA89, LOC106799836, LOC106799848, LOC106799849, LOC107372315, SNORA101B, LOC107882126, LOC108281111, LOC108281128, SNORA79B, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120925, LOC110121319, LOC110121326, LOC110121327, LOC110121391, LOC110121392, LOC110121424, LOC110121433, LOC110121504, LOC111365217, LOC111500315, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268124, LOC112268478, LOC112268479, LOC114827851, LOC116268458
See casesPathogenic
(Mar 18, 2014)
no assertion criteria providedVCV000155681
4.
GRCh37:
Chr14:20511673-107285437
GRCh38:
Chr14:20043514-106877229
LOC112272545, LOC112272546, LOC112272548, LOC112272549, LOC112272550, LOC112272551, LOC112272552, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, MIR9718, MIR12121, LOC113939940, LOC113939941, LOC114827851, LOC116268458, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, SERPINA3, ACTN1, ACYP1, AKT1, ANG, APEX1, ARF6, ARG2, ARHGAP5, BCL2L2, BDKRB1, BDKRB2, BMP4, ZFP36L1, CALM1, SERPINA6, ENTPD5, CDKN3, CEBPE, CFL2, FOXN3, CHGA, CKB, CMA1, LTB4R, CRIP1, CRIP2, CTSG, DAD1, COCH, DIO2, DIO3, DLST, DYNC1H1, EIF2S1, EIF5, EML1, ERH, ESR2, ESRRB, FKBP3, FOXG1, FNTB, FOS, FUT8, GALC, GCH1, GMFB, GPR33, GPX2, GSTZ1, GTF2A1, BRF1, GZMH, GZMB, HIF1A, FOXA1, HNRNPC, HSPA2, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, KTN1, LGALS3, LTBP2, MARK3, MAX, MGAT2, MIA2, ATXN3, MAP3K9, MMP14, ALDH6A1, MNAT1, MTHFD1, MYH6, MYH7, NDUFB1, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, SIX6, OTX2, OXA1L, PAX9, SERPINA5, PCK2, PGF, SERPINA1, SERPINA4, PIGH, PNN, POLE2, PPM1A, PPP2R5C, PPP2R5E, PRKCH, PRKD1, LGMN, PSEN1, PSMA3, PSMA6, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTGDR, PTGER2, ABCD4, PYGL, RABGGTA, RAD51B, MOK, ARID4A, RN7SL1, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, RPL36AL, RPS29, RTN1, SALL2, SEL1L, SRSF5, SIX1, SLC8A3, SLC10A1, SNAPC1, SOS2, SPTB, SRP54, SSTR1, STYX, TRA, TRAV6, TRD, TEP1, TGFB3, TGM1, NKX2-1, TNFAIP2, TRAF3, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSHR, VRK1, WARS1, XRCC3, YY1, ZBTB25, PABPN1, DPF3, GPR68, TCL1A, GPR65, GEMIN2, NUMB, ADAM21, ADAM20, DLK1, CCNK, CDKL1, DCAF5, ALKBH1, EIF2B2, AP1G2, SLC7A7, MTA1, NEMF, PNMA1, RPS6KA5, TRIP11, CPNE6, NRXN3, AKAP6, AKAP5, SPTLC2, BAG5, ATP5MPL, CDC42BPB, TCL1B, RGS6, PRORP, SUSD6, KIAA0586, DLGAP5, FAM30A, AREL1, TOX4, TECPR2, GOLGA5, REC8, MED6, PARP2, CNIH1, DHRS2, GPHN, EFS, IRF9, PRMT5, SEC23A, VTI1B, FBLN5, BATF, TM9SF1, SIVA1, NPC2, AHSA1, EXOC5, CGRRF1, CYP46A1, EDDM3A, DHRS4, PAPOLA, ACOT2, TMED10, FERMT2, RIPK3, PTPN21, AP4S1, ERG28, WDHD1, BAZ1A, MAP4K5, SUPT16H, NID2, VASH1, ATG14, ZBTB1, SNW1, ACIN1, PCNX1, DAAM1, SAMD4A, TTLL5, TOGARAM1, RCOR1, SYNE2, PACS2, SCFD1, KHNYN, ANGEL1, PPP1R13B, DICER1, SLC7A8, ZFYVE26, TTC9, KLHDC2, FLRT2, HECTD1, HEATR5A, NGDN, LRP10, PLEKHG3, SIPA1L1, DCAF4, KIF26A, TMEM251, NKX2-8, TINF2, PLEK2, TIMM9, OR10G3, OR10G2, OR4E2, OR4E1, SNORD3P3, TCL6, MLH3, DMAC2L, KCNH5, CIDEB, IGHV7-81, IGHV6-1, IGHV5-10-1, IGHV5-51, IGHV4-61, IGHV4-59, IGHV4-39, IGHV4-34, IGHV4-31, IGHV4-30-2, IGHV4-28, IGHV4-4, IGHV3-74, IGHV3-73, IGHV3-72, IGHV3-66, IGHV3-64, IGHV3-53, IGHV3-49, IGHV3-48, IGHV3-43, IGHV3-38, IGHV3-35, IGHV3-33, IGHV3-30, IGHV3-23, IGHV3-21, IGHV3-20, IGHV3-16, IGHV3-15, IGHV3-13, IGHV3-11, IGHV3-7, IGHV2-70, IGHV2-26, IGHV2-5, IGHV1-69-2, IGHV1-69, IGHV1-58, IGHV1-46, IGHV1-45, IGHV1-24, IGHV1-18, IGHV1-3, IGHV1-2, IGHJ6, IGHJ5, IGHJ4, IGHJ3, IGHJ2, IGHJ1, IGHD7-27, IGHD6-25, IGHD6-19, IGHD6-13, IGHD6-6, IGHD5-24, IGHD5-18, IGHD5-12, IGHD5-5, IGHD4-23, IGHD4-17, IGHD4-11, IGHD4-4, IGHD3-22, IGHD3-16, IGHD3-10, IGHD3-9, IGHD3-3, IGHD2-21, IGHD2-15, IGHD2-8, IGHD2-2, IGHD1-26, IGHD1-20, IGHD1-14, IGHD1-7, IGHD1-1, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, FOXN3-AS2, CHMP4A, STXBP6, GPR132, POMT2, STRN3, SLC39A2, ERO1A, COQ6, EMC9, ATL1, FCF1, RDH11, SERPINA10, NIN, GLRX5, ZNF219, COX16, GMPR2, SLC22A17, DACT1, ATP6V1D, EVL, GSKIP, JKAMP, CINP, MBIP, DHRS7, RTRAF, ASB2, SIX4, ZFYVE1, CPSF2, KCNK10, GNG2, KLHL28, TMEM260, HAUS4, PPP2R3C, PRPF39, C14orf119, FBXO34, CDCA4, NRDE2, RNF31, ATG2B, RBM23, UBR7, DNAAF2, CCDC198, EXD2, VRTN, MIS18BP1, SYNJ2BP, SLC39A9, MEG3, DHRS4-AS1, LINC00216, G2E3, FLVCR2, OSGEP, GPATCH2L, PPP4R3A, ARHGEF40, BTBD7, AP5M1, TDP1, ZNF839, SPATA7, EAPP, ACTR10, YLPM1, METTL3, LTB4R2, KCNK13, CCDC177, SDR39U1, C14orf132, DDX24, RPGRIP1, ADCK1, TMEM63C, PELI2, IGHV7-4-1, RHOJ, NDRG2, GALNT16, PLEKHH1, NYNRIN, TXNDC16, TRMT5, UNC79, HOMEZ, BEGAIN, CHD8, FANCM, PPP4R4, CCNB1IP1, ZNF410, NGB, RBM25, SNX6, SAV1, C14orf93, ABHD4, VIPAS39, NPAS3, SMOC1, MOAP1, DIO3OS, EDDM3B, IRF2BPL, MPP5, CDH24, INF2, PCNX4, GPR135, METTL17, IL25, GNPNAT1, BCL11B, OTUB2, ZFYVE21, MEG8, THTPA, WDR25, OR6J1, VCPKMT, LINC00341, ZC2HC1C, RIOX1, IPO4, CLMN, CATSPERB, ZC3H14, RIN3, L2HGDH, DGLUCY, BBOF1, NUBPL, DCAF11, TMEM121, DDHD1, SGPP1, TMX1, AMN, SLIRP, DNAL1, RPS6KL1, SYT16, IFI27L2, FSCB, SETD3, BRMS1L, COA8, HHIPL1, JPH4, GON7, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, STON2, ZFHX2, CIPC, RPPH1, SLC25A21, PAPLN, FAM181A, BTBD6, EFCAB11, CARMIL3, PPP1R3E, PIP4P1, CHURC1, MIDEAS, LIN52, NEK9, EXOC3L4, WDR20, TTC5, MAPK1IP1L, EGLN3, DTD2, IFT43, WDR89, L3HYPDH, AHNAK2, TRIM9, TRMT61A, DHRS1, CMTM5, TDRD9, ANKRD9, AK7, IFI27L1, C14orf28, TRAPPC6B, CLBA1, PLD4, ADSS1, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4L1, OR11H6, LRR1, KLHDC1, FRMD6, SOCS4, NAA30, GPHB5, NOXRED1, JDP2, ISCA2, ACOT4, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, KLHL33, RPL10L, LINC02691, LINC00239, LINC00637, RDH12, LINC00618, GSC, SERPINA12, PRIMA1, MIPOL1, PPP1R36, SLC38A6, ARMH4, FRMD6-AS1, ABHD12B, LOC145474, PTGR2, FAM161B, LRRC74A, ISM2, CEP128, MDP1, TTC7B, LRFN5, FAM71D, TMEM229B, ACTN1-AS1, SYNE3, CLEC14A, FITM1, REM2, TMEM30B, LINC00519, MDGA2, SAMD15, NOP9, EML5, SPTSSA, LINC00638, ADCY4, LINC01599, RALGAPA1, SFTA3, LOC254028, FBXO33, NUDT14, CCDC197, SERPINA11, LINC00639, LINC01588, LINC00640, GPR137C, PROX2, LINC02288, ZDHHC22, TMED8, C14orf178, LINC01148, LINC01146, FAM181A-AS1, SNHG10, C14orf177, SLC25A47, LINC00523, LINC00641, TSSK4, FAM177A1, CEP170B, TEDC1, C14orf99, DHRS4L2, C14orf39, CCDC85C, ITPK1-AS1, TTC6, SNORD8, SNORD56B, SERPINA9, LINC00524, LINC00226, LINC00221, RNASE10, VSX2, OR6S1, SLC35F4, LRRC9, COX8C, ASPG, RAB15, RN7SL2, RN7SL3, MIR381HG, PSMA3-AS1, TBPL2, LINC01551, TOMM20L, LINC01550, RTL1, TMEM179, OR4K17, OR4N5, OR11G2, OR11H7, OR11H4, RNASE9, OR5AU1, SERPINA2, HEATR4, LINC00517, FLJ22447, PLEKHD1, FOXN3-AS1, LINC00642, DICER1-AS1, C14orf180, MIR127, MIR134, MIR136, MIR154, MIR203A, MIR208A, MIR299, LINC00596, RNASE13, CCDC196, CCDC88C, MIR323A, MIR337, MIR342, MIR345, MIR376C, MIR369, MIR370, RNASE12, MIR376A1, MIR377, MIR379, MIR380, MIR381, MIR382, MIR433, MIR431, MIR329-1, MIR329-2, MIR323B, MIR409, MIR412, MIR410, MIR376B, MIR485, MIR493, MIR432, MIR494, MIR495, MIR496, MIR487A, ACOT1, ACOT6, TMEM253, CBLN3, LINC02315, FUT8-AS1, LINC00520, LINC00643, SYNDIG1L, RD3L, TEX22, MIR539, MIR544A, MIR376A2, MIR487B, SCARNA13, SNORA28, SNORA79, SNORD9, SNORD112, MIR411, MIR624, MIR625, MIR654, MIR655, MIR656, DHRS4L1, LOC728755, CCDC175, LOC730202, LINC01220, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-30, SNORD114-31, MIR758, MIR668, MIR770, TRY-GTA7-1, TRY-GTA5-4, SNORD127, SNORD126, SNORA11B, MIR300, MIR541, MIR665, MIR543, MIR208B, MIR889, LINC02324, LMLN2, ZBTB42, KTN1-AS1, LINC02291, SLC25A21-AS1, LINC00605, LINC02312, TRY-GTA5-5, TRP-TGG3-2, TRK-CTT1-1, TRA-AGC15-1, TRL-TAG2-1, TRR-ACG1-3, TRT-TGT5-1, TRI-AAT5-4, TRP-TGG1-1, TRC-GCA8-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-3, LOC100288846, LOC100289511, MIR1247, MIR1185-1, MIR1185-2, MIR1260A, MIR1197, OTX2-AS1, MIR548H1, MIR3171, MIR1193, MIR4309, MIR3173, MIR4308, MIR4307, MIR548Y, PRMT5-AS1, LINC00645, LOC100506071, SRP54-AS1, NKX2-1-AS1, LOC100506321, LOC100506358, LINC00871, LINC00648, LOC100506476, LINC02274, LOC100506499, VASH1-AS1, LINC02308, LINC02318, TUNAR, SNHG23, MEG9, LINC02314, LOC100507437, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, SYNJ2BP-COX16, CHURC1-FNTB, MIR4507, MIR4506, MIR4505, MIR203B, MIR4708, MIR4709, MIR151B, MIR4504, MIR4538, MIR4503, MIR4710, MIR4539, MIR4537, MIR4707, MIR4706, MIR2392, DIO2-AS1, HIF1A-AS1, HIF1A-AS2, MIR5195, MIR5694, MIR5580, MIR5586, FRMD6-AS2, PTCSC3, LINC00911, LOC100996664, LINC00609, LOC101926933, LOC101927045, LINC02294, MIR4307HG, LOC101927124, LOC101927178, LINC02302, LOC101927418, LOC101927620, LOC101927690, LINC02322, LINC01303, LOC101928075, LOC101928123, LOC101928143, LOC101928504, LINC01467, LINC02301, LINC02328, LINC01147, LOC101928909, LINC02287, LINC02292, LINC02325, SNHG24, LINC02285, LINC02280, LOC101929718, LINC02317, LINC00644, RNU6-7, RNU6-8, MIR6076, MIR6717, MIR6765, MIR7641-2, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR6764, MIR8071-2, IGHV2-70D, IGHV1-69D, IGHV3-64D, LINC02298, LOC102723604, LINC02284, LINC01500, LOC102723809, LOC102724153, LINC02289, LINC02311, LINC02305, LINC02316, LOC102724814, LINC00596, LINC02293, LINC02327, LINC02588, FOXG1-AS1, LINC01269, SALRNA1, MHRT, LINC02332, LOC105370401, LINC02286, LINC02300, LINC02281, LINC02282, LINC02326, G2E3-AS1, LINC02313, EGLN3-AS1, LOC105370457, SEC23A-AS1, LINC02307, LOC105370473, LINC02303, LOC105370489, LINC02310, LINC02319, LINC02331, HIF1A-AS3, LINC02290, LINC01629, LOC105370586, LINC02329, LINC02309, LINC02296, LINC02330, LOC105370619, LOC105370622, LINC02321, LINC02833, LINC02299, LINC02304, LINC02295, LINC02320, LINC02323, LINC00677, LOC105370687, LOC105370697, LOC105370708, LOC105378183, SNORA89, LOC106799836, LOC106799848, LOC106799849, LOC107372315, SNORA101B, LOC107882126, LBHD2, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, GSC-DT, LOC109433677, LOC109433679, SNORA79B, SNORD169, 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, LOC112268124, LOC112268140, LOC112268478, LOC112268479, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC112268486
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000155306
5.
GRCh37:
Chr14:20619308-107263478
GRCh38:
Chr14:20151149-106855263
SERPINA3, ACTN1, ACYP1, AKT1, ANG, APEX1, ARF6, ARG2, ARHGAP5, BCL2L2, BDKRB1, BDKRB2, BMP4, ZFP36L1, CALM1, SERPINA6, ENTPD5, CDKN3, CEBPE, CFL2, FOXN3, CHGA, CKB, CMA1, LTB4R, CRIP1, CRIP2, CTSG, DAD1, COCH, DIO2, DIO3, DLST, DYNC1H1, EIF2S1, EIF5, EML1, ERH, ESR2, ESRRB, FKBP3, FOXG1, FNTB, FOS, FUT8, GALC, GCH1, GMFB, GPR33, GPX2, GSTZ1, GTF2A1, BRF1, GZMH, GZMB, HIF1A, FOXA1, HNRNPC, HSPA2, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, KTN1, LGALS3, LTBP2, MARK3, MAX, MGAT2, MIA2, ATXN3, MAP3K9, MMP14, ALDH6A1, MNAT1, MTHFD1, MYH6, MYH7, NDUFB1, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, SIX6, OTX2, OXA1L, PAX9, SERPINA5, PCK2, PGF, SERPINA1, SERPINA4, PIGH, PNN, POLE2, PPM1A, PPP2R5C, PPP2R5E, PRKCH, PRKD1, LGMN, PSEN1, PSMA3, PSMA6, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTGDR, PTGER2, ABCD4, PYGL, RABGGTA, RAD51B, MOK, ARID4A, RN7SL1, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, RPL36AL, RPS29, RTN1, SALL2, SEL1L, SRSF5, SIX1, SLC8A3, SLC10A1, SNAPC1, SOS2, SPTB, SRP54, SSTR1, STYX, TRA, TRAV6, TRD, TEP1, TGFB3, TGM1, NKX2-1, TNFAIP2, TRAF3, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSHR, VRK1, WARS1, XRCC3, YY1, ZBTB25, PABPN1, DPF3, GPR68, TCL1A, GPR65, GEMIN2, NUMB, ADAM21, ADAM20, DLK1, CCNK, CDKL1, DCAF5, ALKBH1, EIF2B2, AP1G2, SLC7A7, MTA1, NEMF, PNMA1, RPS6KA5, TRIP11, CPNE6, NRXN3, AKAP6, AKAP5, SPTLC2, BAG5, ATP5MPL, CDC42BPB, TCL1B, RGS6, PRORP, SUSD6, KIAA0586, DLGAP5, FAM30A, AREL1, TOX4, TECPR2, GOLGA5, REC8, MED6, PARP2, CNIH1, DHRS2, GPHN, EFS, IRF9, PRMT5, SEC23A, VTI1B, FBLN5, BATF, TM9SF1, SIVA1, NPC2, AHSA1, EXOC5, CGRRF1, CYP46A1, EDDM3A, DHRS4, PAPOLA, ACOT2, TMED10, FERMT2, RIPK3, PTPN21, AP4S1, ERG28, WDHD1, BAZ1A, MAP4K5, SUPT16H, NID2, VASH1, ATG14, ZBTB1, SNW1, ACIN1, PCNX1, DAAM1, SAMD4A, TTLL5, TOGARAM1, RCOR1, SYNE2, PACS2, SCFD1, KHNYN, ANGEL1, PPP1R13B, DICER1, SLC7A8, ZFYVE26, TTC9, KLHDC2, FLRT2, HECTD1, HEATR5A, NGDN, LRP10, PLEKHG3, SIPA1L1, DCAF4, KIF26A, TMEM251, NKX2-8, TINF2, PLEK2, TIMM9, OR10G3, OR10G2, OR4E2, OR4E1, SNORD3P3, TCL6, MLH3, DMAC2L, KCNH5, CIDEB, IGHV6-1, IGHV5-10-1, IGHV5-51, IGHV4-61, IGHV4-59, IGHV4-39, IGHV4-34, IGHV4-31, IGHV4-30-2, IGHV4-28, IGHV4-4, IGHV3-74, IGHV3-73, IGHV3-72, IGHV3-66, IGHV3-64, IGHV3-53, IGHV3-49, IGHV3-48, IGHV3-43, IGHV3-38, IGHV3-35, IGHV3-33, IGHV3-30, IGHV3-23, IGHV3-21, IGHV3-20, IGHV3-16, IGHV3-15, IGHV3-13, IGHV3-11, IGHV3-7, IGHV2-70, IGHV2-26, IGHV2-5, IGHV1-69-2, IGHV1-69, IGHV1-58, IGHV1-46, IGHV1-45, IGHV1-24, IGHV1-18, IGHV1-3, IGHV1-2, IGHJ6, IGHJ5, IGHJ4, IGHJ3, IGHJ2, IGHJ1, IGHD7-27, IGHD6-25, IGHD6-19, IGHD6-13, IGHD6-6, IGHD5-24, IGHD5-18, IGHD5-12, IGHD5-5, IGHD4-23, IGHD4-17, IGHD4-11, IGHD4-4, IGHD3-22, IGHD3-16, IGHD3-10, IGHD3-9, IGHD3-3, IGHD2-21, IGHD2-15, IGHD2-8, IGHD2-2, IGHD1-26, IGHD1-20, IGHD1-14, IGHD1-7, IGHD1-1, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, FOXN3-AS2, CHMP4A, STXBP6, GPR132, POMT2, STRN3, SLC39A2, ERO1A, COQ6, EMC9, ATL1, FCF1, RDH11, SERPINA10, NIN, GLRX5, ZNF219, COX16, GMPR2, SLC22A17, DACT1, ATP6V1D, EVL, GSKIP, JKAMP, CINP, MBIP, DHRS7, RTRAF, ASB2, SIX4, ZFYVE1, CPSF2, KCNK10, GNG2, KLHL28, TMEM260, HAUS4, PPP2R3C, PRPF39, C14orf119, FBXO34, CDCA4, NRDE2, RNF31, ATG2B, RBM23, UBR7, DNAAF2, CCDC198, EXD2, VRTN, MIS18BP1, SYNJ2BP, SLC39A9, MEG3, DHRS4-AS1, LINC00216, G2E3, FLVCR2, OSGEP, GPATCH2L, PPP4R3A, ARHGEF40, BTBD7, AP5M1, TDP1, ZNF839, SPATA7, EAPP, ACTR10, YLPM1, METTL3, LTB4R2, KCNK13, CCDC177, SDR39U1, C14orf132, DDX24, RPGRIP1, ADCK1, TMEM63C, PELI2, IGHV7-4-1, RHOJ, NDRG2, GALNT16, PLEKHH1, NYNRIN, TXNDC16, TRMT5, UNC79, HOMEZ, BEGAIN, CHD8, FANCM, PPP4R4, CCNB1IP1, ZNF410, NGB, RBM25, SNX6, SAV1, C14orf93, ABHD4, VIPAS39, NPAS3, SMOC1, MOAP1, DIO3OS, EDDM3B, IRF2BPL, MPP5, CDH24, INF2, PCNX4, GPR135, METTL17, IL25, GNPNAT1, BCL11B, OTUB2, ZFYVE21, MEG8, THTPA, WDR25, OR6J1, VCPKMT, LINC00341, ZC2HC1C, RIOX1, IPO4, CLMN, CATSPERB, ZC3H14, RIN3, L2HGDH, DGLUCY, BBOF1, NUBPL, DCAF11, TMEM121, DDHD1, SGPP1, TMX1, AMN, SLIRP, DNAL1, RPS6KL1, SYT16, IFI27L2, FSCB, SETD3, BRMS1L, COA8, HHIPL1, JPH4, GON7, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, STON2, ZFHX2, CIPC, RPPH1, SLC25A21, PAPLN, FAM181A, BTBD6, EFCAB11, CARMIL3, PPP1R3E, PIP4P1, CHURC1, MIDEAS, LIN52, NEK9, EXOC3L4, WDR20, TTC5, MAPK1IP1L, EGLN3, DTD2, IFT43, WDR89, L3HYPDH, AHNAK2, TRIM9, TRMT61A, DHRS1, CMTM5, TDRD9, ANKRD9, AK7, IFI27L1, C14orf28, TRAPPC6B, CLBA1, PLD4, ADSS1, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR11H6, LRR1, KLHDC1, FRMD6, SOCS4, NAA30, GPHB5, NOXRED1, JDP2, ISCA2, ACOT4, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, KLHL33, RPL10L, LINC02691, LINC00239, LINC00637, RDH12, LINC00618, GSC, SERPINA12, PRIMA1, MIPOL1, PPP1R36, SLC38A6, ARMH4, FRMD6-AS1, ABHD12B, LOC145474, PTGR2, FAM161B, LRRC74A, ISM2, CEP128, MDP1, TTC7B, LRFN5, FAM71D, TMEM229B, ACTN1-AS1, SYNE3, CLEC14A, FITM1, REM2, TMEM30B, LINC00519, MDGA2, SAMD15, NOP9, EML5, SPTSSA, LINC00638, ADCY4, LINC01599, RALGAPA1, SFTA3, LOC254028, FBXO33, NUDT14, CCDC197, SERPINA11, LINC00639, LINC01588, LINC00640, GPR137C, PROX2, LINC02288, ZDHHC22, TMED8, C14orf178, LINC01148, LINC01146, FAM181A-AS1, SNHG10, C14orf177, SLC25A47, LINC00523, LINC00641, TSSK4, FAM177A1, CEP170B, TEDC1, C14orf99, DHRS4L2, C14orf39, CCDC85C, ITPK1-AS1, TTC6, SNORD8, SNORD56B, SERPINA9, LINC00524, LINC00226, LINC00221, RNASE10, VSX2, OR6S1, SLC35F4, LRRC9, COX8C, ASPG, RAB15, RN7SL2, RN7SL3, MIR381HG, PSMA3-AS1, TBPL2, LINC01551, TOMM20L, LINC01550, RTL1, TMEM179, OR11G2, OR11H7, OR11H4, RNASE9, OR5AU1, SERPINA2, HEATR4, LINC00517, FLJ22447, PLEKHD1, FOXN3-AS1, LINC00642, DICER1-AS1, C14orf180, MIR127, MIR134, MIR136, MIR154, MIR203A, MIR208A, MIR299, LINC00596, RNASE13, CCDC196, CCDC88C, MIR323A, MIR337, MIR342, MIR345, MIR376C, MIR369, MIR370, RNASE12, MIR376A1, MIR377, MIR379, MIR380, MIR381, MIR382, MIR433, MIR431, MIR329-1, MIR329-2, MIR323B, MIR409, MIR412, MIR410, MIR376B, MIR485, MIR493, MIR432, MIR494, MIR495, MIR496, MIR487A, ACOT1, ACOT6, TMEM253, CBLN3, LINC02315, FUT8-AS1, LINC00520, LINC00643, SYNDIG1L, RD3L, TEX22, MIR539, MIR544A, MIR376A2, MIR487B, SCARNA13, SNORA28, SNORA79, SNORD9, SNORD112, MIR411, MIR624, MIR625, MIR654, MIR655, MIR656, DHRS4L1, LOC728755, CCDC175, LOC730202, LINC01220, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-30, SNORD114-31, MIR758, MIR668, MIR770, TRY-GTA7-1, TRY-GTA5-4, SNORD127, SNORD126, SNORA11B, MIR300, MIR541, MIR665, MIR543, MIR208B, MIR889, LINC02324, LMLN2, ZBTB42, KTN1-AS1, LINC02291, SLC25A21-AS1, LINC00605, LINC02312, TRY-GTA5-5, TRP-TGG3-2, TRK-CTT1-1, TRA-AGC15-1, TRL-TAG2-1, TRR-ACG1-3, TRT-TGT5-1, TRI-AAT5-4, TRP-TGG1-1, TRC-GCA8-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-3, LOC100288846, LOC100289511, MIR1247, MIR1185-1, MIR1185-2, MIR1260A, MIR1197, OTX2-AS1, MIR548H1, MIR3171, MIR1193, MIR4309, MIR3173, MIR4308, MIR4307, MIR548Y, PRMT5-AS1, LINC00645, LOC100506071, SRP54-AS1, NKX2-1-AS1, LOC100506321, LOC100506358, LINC00871, LINC00648, LOC100506476, LINC02274, LOC100506499, VASH1-AS1, LINC02308, LINC02318, TUNAR, SNHG23, MEG9, LINC02314, LOC100507437, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, SYNJ2BP-COX16, CHURC1-FNTB, MIR4507, MIR4506, MIR4505, MIR203B, MIR4708, MIR4709, MIR151B, MIR4504, MIR4538, MIR4503, MIR4710, MIR4539, MIR4537, MIR4707, MIR4706, MIR2392, DIO2-AS1, HIF1A-AS1, HIF1A-AS2, MIR5195, MIR5694, MIR5580, MIR5586, FRMD6-AS2, PTCSC3, LINC00911, LOC100996664, LINC00609, LOC101926933, LOC101927045, LINC02294, MIR4307HG, LOC101927124, LOC101927178, LINC02302, LOC101927418, LOC101927620, LOC101927690, LINC02322, LINC01303, LOC101928075, LOC101928123, LOC101928143, LOC101928504, LINC01467, LINC02301, LINC02328, LINC01147, LOC101928909, LINC02287, LINC02292, LINC02325, SNHG24, LINC02285, LINC02280, LOC101929718, LINC02317, LINC00644, RNU6-7, RNU6-8, MIR6076, MIR6717, MIR6765, MIR7641-2, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR6764, MIR8071-2, IGHV2-70D, IGHV1-69D, IGHV3-64D, LINC02298, LOC102723604, LINC02284, LINC01500, LOC102723809, LOC102724153, LINC02289, LINC02311, LINC02305, LINC02316, LOC102724814, LINC00596, LINC02293, LINC02327, LINC02588, FOXG1-AS1, LINC01269, SALRNA1, MHRT, LINC02332, LOC105370401, LINC02286, LINC02300, LINC02281, LINC02282, LINC02326, G2E3-AS1, LINC02313, EGLN3-AS1, LOC105370457, SEC23A-AS1, LINC02307, LOC105370473, LINC02303, LOC105370489, LINC02310, LINC02319, LINC02331, HIF1A-AS3, LINC02290, LINC01629, LOC105370586, LINC02329, LINC02309, LINC02296, LINC02330, LOC105370619, LOC105370622, LINC02321, LINC02833, LINC02299, LINC02304, LINC02295, LINC02320, LINC02323, LINC00677, LOC105370687, LOC105370697, LOC105370708, LOC105378183, SNORA89, LOC106799836, LOC106799848, LOC106799849, LOC107372315, SNORA101B, LOC107882126, LBHD2, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, GSC-DT, LOC109433677, LOC109433679, SNORA79B, SNORD169, 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, LOC112268124, 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, MIR9718, MIR12121, LOC113939940, LOC113939941, LOC114827851, LOC116268458, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464
See casesPathogenic
(Jan 14, 2011)
no assertion criteria providedVCV000146230
6.
GRCh37:
Chr14:20665104-45754005
GRCh38:
Chr14:20196945-45284802
G2E3, OSGEP, ARHGEF40, EAPP, METTL3, LTB4R2, SDR39U1, RPGRIP1, NDRG2, NYNRIN, HOMEZ, CHD8, FANCM, CCNB1IP1, SNX6, C14orf93, ABHD4, NPAS3, EDDM3B, CDH24, METTL17, IL25, THTPA, OR6J1, IPO4, NUBPL, DCAF11, FSCB, BRMS1L, JPH4, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, ZFHX2, RPPH1, SLC25A21, CARMIL3, PPP1R3E, PIP4P1, TTC5, EGLN3, DTD2, DHRS1, CMTM5, C14orf28, TRAPPC6B, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR11H6, KLHL33, MIPOL1, MDP1, LRFN5, CLEC14A, FITM1, REM2, NOP9, SPTSSA, ADCY4, RALGAPA1, SFTA3, LOC254028, FBXO33, LINC00639, LINC00641, TSSK4, FAM177A1, DHRS4L2, TTC6, SNORD8, RNASE10, OR6S1, LINC01551, OR11G2, OR11H7, OR11H4, RNASE9, OR5AU1, LINC00517, MIR208A, LINC00596, RNASE13, RNASE12, TMEM253, CBLN3, LINC02315, SNORD9, MIR624, DHRS4L1, LOC728755, TRY-GTA7-1, TRY-GTA5-4, SNORD127, SNORD126, MIR208B, LMLN2, SLC25A21-AS1, TRY-GTA5-5, TRP-TGG3-2, TRL-TAG2-1, TRR-ACG1-3, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-3, LOC100288846, MIR3171, MIR4307, PRMT5-AS1, LINC00645, LOC100506071, SRP54-AS1, NKX2-1-AS1, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, MIR4503, MIR4707, PTCSC3, LINC00609, LOC101926933, LOC101927045, LINC02294, MIR4307HG, LOC101927124, LOC101927178, LINC02302, LOC101927418, LOC101929718, RNU6-7, RNU6-8, MIR6717, MIR7703, LOC102724814, LINC00596, LINC02293, LINC02327, LINC02588, FOXG1-AS1, MHRT, LINC02332, LOC105370401, LINC02286, LINC02300, LINC02281, LINC02282, LINC02326, G2E3-AS1, LINC02313, EGLN3-AS1, LOC105370457, SEC23A-AS1, LINC02307, LOC105370473, SNORA89, LOC106799836, LOC106799848, LOC106799849, LOC107372315, SNORA101B, LOC107882126, LOC108281111, LOC108281128, SNORA79B, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120925, LOC110121319, LOC110121326, LOC110121327, LOC110121391, LOC110121392, LOC110121424, LOC110121433, LOC110121504, LOC111365217, LOC111500315, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268124, LOC112268478, LOC112268479, LOC114827851, LOC116268458, ANG, APEX1, ARHGAP5, BCL2L2, CEBPE, CFL2, CMA1, LTB4R, CTSG, DAD1, COCH, FKBP3, FOXG1, GPR33, GZMH, GZMB, FOXA1, HNRNPC, MIA2, MMP14, MYH6, MYH7, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, OXA1L, PAX9, PCK2, PNN, PRKD1, PSMA6, PSMB5, PSME1, PSME2, RABGGTA, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, SRP54, SSTR1, TRA, TRAV6, TRD, TEP1, TGM1, NKX2-1, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, PABPN1, GEMIN2, AP1G2, SLC7A7, CPNE6, AKAP6, PRORP, TOX4, REC8, PARP2, DHRS2, EFS, IRF9, PRMT5, SEC23A, TM9SF1, EDDM3A, DHRS4, RIPK3, AP4S1, BAZ1A, SUPT16H, ACIN1, TOGARAM1, SCFD1, KHNYN, SLC7A8, HECTD1, HEATR5A, NGDN, LRP10, NKX2-8, TINF2, OR10G3, OR10G2, OR4E2, OR4E1, CIDEB, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, CHMP4A, STXBP6, STRN3, SLC39A2, EMC9, ZNF219, GMPR2, SLC22A17, MBIP, KLHL28, HAUS4, PPP2R3C, PRPF39, C14orf119, RNF31, RBM23, MIS18BP1, DHRS4-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057745
7.
GRCh37:
Chr14:20880746-25487326
GRCh38:
Chr14:20412587-25018120
ANG, APEX1, BCL2L2, CEBPE, CMA1, LTB4R, CTSG, DAD1, GZMH, GZMB, HNRNPC, MMP14, MYH6, MYH7, NEDD8, NFATC4, PNP, NRL, OXA1L, PCK2, PSMB5, PSME1, PSME2, RABGGTA, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, TRA, TRAV6, TRD, TEP1, TGM1, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, PABPN1, AP1G2, SLC7A7, CPNE6, TOX4, REC8, DHRS2, EFS, IRF9, PRMT5, TM9SF1, EDDM3A, DHRS4, RIPK3, SUPT16H, ACIN1, KHNYN, SLC7A8, NGDN, LRP10, TINF2, OR10G3, OR10G2, OR4E2, OR4E1, CIDEB, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, CHMP4A, STXBP6, SLC39A2, EMC9, ZNF219, GMPR2, SLC22A17, HAUS4, C14orf119, RNF31, RBM23, DHRS4-AS1, OSGEP, ARHGEF40, METTL3, LTB4R2, SDR39U1, RPGRIP1, NDRG2, NYNRIN, HOMEZ, CHD8, C14orf93, ABHD4, EDDM3B, CDH24, METTL17, IL25, THTPA, OR6J1, IPO4, DCAF11, JPH4, RNASE7, RAB2B, AJUBA, ZFHX2, CARMIL3, PPP1R3E, PIP4P1, DHRS1, CMTM5, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, KLHL33, MDP1, FITM1, REM2, NOP9, ADCY4, LOC254028, LINC00641, TSSK4, DHRS4L2, SNORD8, RNASE10, OR6S1, RNASE9, OR5AU1, MIR208A, LINC00596, RNASE13, RNASE12, TMEM253, CBLN3, SNORD9, DHRS4L1, TRY-GTA7-1, TRY-GTA5-4, MIR208B, LMLN2, TRY-GTA5-5, TRP-TGG3-2, TRL-TAG2-1, TRR-ACG1-3, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-3, PRMT5-AS1, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, MIR4707, LOC101926933, LOC101927045, LOC101929718, MIR6717, MIR7703, LOC102724814, LINC00596, MHRT, LINC02332, LOC105370401, LOC106799836, LOC107372315, LOC107882126, LOC110121424, LOC110121433, LOC110121504, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC114827851
See casesLikely pathogenic
(Aug 29, 2011)
no assertion criteria providedVCV000148657
8.
GRCh37:
Chr14:24018169-42452605
GRCh38:
Chr14:23548960-41983402
ARHGAP5, CFL2, CMA1, LTB4R, CTSG, COCH, FOXG1, GPR33, GZMH, GZMB, FOXA1, MIA2, NEDD8, NFATC4, NFKBIA, NOVA1, NRL, PSME2, PAX9, PCK2, PNN, PRKD1, PSMA6, PSME1, RABGGTA, SRP54, SSTR1, TGM1, NKX2-1, GEMIN2, AP1G2, CPNE6, AKAP6, PRORP, REC8, DHRS2, IRF9, SEC23A, TM9SF1, DHRS4, RIPK3, AP4S1, BAZ1A, SCFD1, KHNYN, HECTD1, HEATR5A, NKX2-8, TINF2, CIDEB, CHMP4A, STXBP6, STRN3, EMC9, GMPR2, MBIP, PPP2R3C, RNF31, DHRS4-AS1, G2E3, EAPP, LTB4R2, SDR39U1, NYNRIN, SNX6, NPAS3, THTPA, IPO4, NUBPL, DCAF11, BRMS1L, JPH4, INSM2, ARHGAP5-AS1, ZFHX2, SLC25A21, CARMIL3, EGLN3, DTD2, DHRS1, TRAPPC6B, MIPOL1, MDP1, LRFN5, CLEC14A, FITM1, NOP9, SPTSSA, ADCY4, RALGAPA1, SFTA3, FBXO33, LINC00639, TSSK4, FAM177A1, DHRS4L2, TTC6, LINC01551, LINC00517, LINC00596, CBLN3, LINC02315, MIR624, DHRS4L1, LOC728755, SLC25A21-AS1, LOC100288846, MIR3171, MIR4307, LINC00645, LOC100506071, SRP54-AS1, NKX2-1-AS1, NEDD8-MDP1, MIR4503, PTCSC3, LINC00609, LOC101927045, LINC02294, MIR4307HG, LOC101927124, LOC101927178, RNU6-7, RNU6-8, MIR7703, LOC102724814, LINC00596, LINC02293, LINC02327, LINC02588, FOXG1-AS1, LINC02286, LINC02300, LINC02281, LINC02282, LINC02326, G2E3-AS1, LINC02313, EGLN3-AS1, LOC105370457, SEC23A-AS1, SNORA89, LOC106799836, LOC106799848, LOC106799849, SNORA101B, LOC107882126, LOC108281111, LOC108281128, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120925, LOC110121319, LOC110121326, LOC110121327, LOC110121391, LOC110121392, LOC111365217, LOC111500315, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268124, LOC112268478, LOC112268479, LOC116268458
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057750
9.
GRCh37:
Chr14:24453274-25843700
GRCh38:
Chr14:23984065-25374494
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000154806
10.
GRCh37:
Chr14:24780258
GRCh38:
Chr14:24311052
CIDEB, LTB4R2P130Snot providedBenign
(May 24, 2018)
criteria provided, single submitterVCV000712146
11.
GRCh37:
Chr14:24780427-24780428
GRCh38:
Chr14:24311221-24311222
CIDEB, LTB4R2not providedBenign
(Jun 6, 2018)
criteria provided, single submitterVCV000783684
12.
GRCh37:
Chr14:24780434
GRCh38:
Chr14:24311228
CIDEB, LTB4R2not providedBenign
(Jun 11, 2018)
criteria provided, single submitterVCV000768643
13.
GRCh37:
Chr14:19100682-28730087
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625814
14.
GRCh37:
Chr14:19327823-107287663
SERPINA3, ACTN1, ACYP1, AKT1, ANG, APEX1, ARF6, ARG2, ARHGAP5, BCL2L2, BDKRB1, BDKRB2, BMP4, ZFP36L1, CALM1, SERPINA6, ENTPD5, CDKN3, CEBPE, CFL2, FOXN3, CHGA, CKB, CMA1, LTB4R, CRIP1, CRIP2, CTSG, DAD1, COCH, DIO2, DIO3, DLST, DYNC1H1, EIF2S1, EIF5, EML1, ERH, ESR2, ESRRB, FKBP3, FOXG1, FNTB, FOS, FUT8, GALC, GCH1, GMFB, GPR33, GPX2, GSTZ1, GTF2A1, BRF1, GZMH, GZMB, HIF1A, FOXA1, HNRNPC, HSPA2, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, KTN1, LGALS3, LTBP2, MARK3, MAX, MGAT2, ATXN3, MAP3K9, MMP14, ALDH6A1, MNAT1, MTHFD1, MYH6, MYH7, NDUFB1, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, SIX6, OTX2, OXA1L, PAX9, SERPINA5, PCK2, PGF, SERPINA1, SERPINA4, PIGH, PNN, POLE2, PPM1A, PPP2R5C, PPP2R5E, PRKCH, PRKD1, LGMN, PSEN1, PSMA3, PSMA6, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTGDR, PTGER2, ABCD4, PYGL, RABGGTA, RAD51B, MOK, ARID4A, RN7SL1, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, RPL36AL, RPS29, RTN1, SALL2, SEL1L, SRSF5, SIX1, SLC8A3, SLC10A1, SNAPC1, SOS2, SPTB, SRP54, SSTR1, STYX, TRA, TEP1, TGFB3, TGM1, NKX2-1, TNFAIP2, TRAF3, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSHR, VRK1, WARS1, XRCC3, YY1, ZBTB25, PABPN1, DPF3, GPR68, TCL1A, GPR65, GEMIN2, NUMB, ADAM21, ADAM20, DLK1, CCNK, CDKL1, DCAF5, ALKBH1, EIF2B2, AP1G2, SLC7A7, MTA1, NEMF, PNMA1, RPS6KA5, TRIP11, CPNE6, AKAP6, AKAP5, SPTLC2, BAG5, ATP5MPL, CDC42BPB, TCL1B, RGS6, PRORP, SUSD6, KIAA0586, DLGAP5, AREL1, TOX4, TECPR2, GOLGA5, REC8, MED6, PARP2, CNIH1, DHRS2, GPHN, EFS, IRF9, PRMT5, SEC23A, VTI1B, FBLN5, BATF, TM9SF1, SIVA1, NPC2, AHSA1, EXOC5, CGRRF1, CYP46A1, EDDM3A, DHRS4, PAPOLA, ACOT2, TMED10, FERMT2, RIPK3, PTPN21, AP4S1, ERG28, WDHD1, BAZ1A, MAP4K5, SUPT16H, NID2, VASH1, ATG14, ZBTB1, SNW1, ACIN1, PCNX1, DAAM1, SAMD4A, TTLL5, TOGARAM1, RCOR1, SYNE2, PACS2, SCFD1, KHNYN, ANGEL1, PPP1R13B, DICER1, SLC7A8, ZFYVE26, TTC9, KLHDC2, FLRT2, HECTD1, HEATR5A, NGDN, LRP10, PLEKHG3, SIPA1L1, DCAF4, KIF26A, TMEM251, NKX2-8, TINF2, PLEK2, TIMM9, OR10G3, OR10G2, OR4E2, TCL6, MLH3, DMAC2L, KCNH5, CIDEB, IGHV3-23, IGHD3-3, CHMP4A, STXBP6, GPR132, POMT2, STRN3, SLC39A2, ERO1A, COQ6, EMC9, ATL1, FCF1, RDH11, SERPINA10, NIN, GLRX5, ZNF219, COX16, GMPR2, SLC22A17, DACT1, ATP6V1D, EVL, GSKIP, JKAMP, CINP, MBIP, DHRS7, RTRAF, ASB2, SIX4, ZFYVE1, CPSF2, KCNK10, GNG2, KLHL28, TMEM260, HAUS4, PPP2R3C, PRPF39, C14orf119, FBXO34, CDCA4, NRDE2, RNF31, ATG2B, RBM23, UBR7, DNAAF2, CCDC198, EXD2, VRTN, MIS18BP1, SYNJ2BP, SLC39A9, MEG3, G2E3, FLVCR2, OSGEP, GPATCH2L, PPP4R3A, ARHGEF40, BTBD7, AP5M1, TDP1, ZNF839, SPATA7, EAPP, ACTR10, YLPM1, METTL3, LTB4R2, KCNK13, CCDC177, SDR39U1, C14orf132, DDX24, RPGRIP1, ADCK1, TMEM63C, PELI2, RHOJ, NDRG2, GALNT16, PLEKHH1, NYNRIN, TXNDC16, TRMT5, UNC79, HOMEZ, BEGAIN, CHD8, FANCM, PPP4R4, CCNB1IP1, ZNF410, NGB, RBM25, SNX6, SAV1, C14orf93, ABHD4, VIPAS39, NPAS3, SMOC1, MOAP1, DIO3OS, EDDM3B, IRF2BPL, MPP5, CDH24, INF2, PCNX4, GPR135, METTL17, IL25, GNPNAT1, BCL11B, OTUB2, ZFYVE21, MEG8, THTPA, OR4K5, OR11H2, WDR25, OR4K1, VCPKMT, ZC2HC1C, RIOX1, IPO4, CLMN, CATSPERB, ZC3H14, RIN3, L2HGDH, DGLUCY, BBOF1, NUBPL, DCAF11, TMEM121, DDHD1, OR4K15, SGPP1, TMX1, AMN, SLIRP, DNAL1, RPS6KL1, SYT16, IFI27L2, FSCB, SETD3, BRMS1L, COA8, HHIPL1, JPH4, GON7, RNASE7, INSM2, RAB2B, AJUBA, STON2, ZFHX2, CIPC, RPPH1, SLC25A21, PAPLN, FAM181A, BTBD6, EFCAB11, CARMIL3, PPP1R3E, PIP4P1, CHURC1, MIDEAS, LIN52, NEK9, EXOC3L4, WDR20, TTC5, MAPK1IP1L, EGLN3, DTD2, IFT43, WDR89, L3HYPDH, AHNAK2, TRIM9, TRMT61A, DHRS1, CMTM5, TDRD9, ANKRD9, AK7, IFI27L1, C14orf28, TRAPPC6B, CLBA1, PLD4, ADSS1, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4K14, OR4L1, OR11H6, LRR1, KLHDC1, FRMD6, SOCS4, NAA30, GPHB5, NOXRED1, JDP2, ISCA2, ACOT4, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, KLHL33, RPL10L, RDH12, GSC, SERPINA12, PRIMA1, MIPOL1, PPP1R36, SLC38A6, ARMH4, ABHD12B, PTGR2, FAM161B, LRRC74A, ISM2, CEP128, MDP1, TTC7B, LRFN5, FAM71D, TMEM229B, SYNE3, CLEC14A, FITM1, REM2, TMEM30B, MDGA2, SAMD15, NOP9, EML5, SPTSSA, ADCY4, LINC01599, RALGAPA1, SFTA3, FBXO33, NUDT14, SERPINA11, LINC01588, GPR137C, PROX2, ZDHHC22, TMED8, C14orf178, SNHG10, C14orf177, SLC25A47, TSSK4, FAM177A1, CEP170B, TEDC1, DHRS4L2, C14orf39, CCDC85C, TTC6, SERPINA9, RNASE10, VSX2, OR6S1, SLC35F4, COX8C, ASPG, RAB15, RN7SL2, RN7SL3, TBPL2, TOMM20L, RTL1, TMEM179, OR4N2, OR4K2, OR4K13, OR4K17, OR4N5, OR11G2, OR11H4, RNASE9, OR5AU1, SERPINA2, HEATR4, PLEKHD1, C14orf180, POTEG, MIR127, MIR134, MIR136, MIR203A, MIR208A, LINC00596, OR11H12, RNASE13, CCDC88C, OR4Q3, OR4M1, MIR376C, MIR369, MIR370, RNASE12, MIR376A1, MIR380, MIR433, MIR431, MIR409, MIR410, MIR376B, MIR495, ACOT1, ACOT6, POTEM, TMEM253, CBLN3, SYNDIG1L, RD3L, TEX22, MIR376A2, MIR487B, SNORD112, DHRS4L1, CCDC175, LOC730202, SNORD113-1, SNORD114-1, MIR208B, ZBTB42, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, CHURC1-FNTB, HIF1A-AS2, PTCSC3, LOC101929572
not providedPathogenic
(Oct 31, 2014)
no assertion criteria providedVCV000601778
15.
GRCh37:
Chr14:19280733-107287663