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Items: 1 to 100 of 4015

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:20468770-39453619
GRCh38:
Chr14:20000611-38984415
ABHD4, ACIN1, ADCY4, AJUBA, AKAP6, ANG, AP1G2, AP1G2-AS1, AP4S1, APEX1, ARHGAP5, ARHGAP5-AS1, ARHGEF40, BAZ1A, BAZ1A-AS1, BCL2L2, BCL2L2-PABPN1, BRMS1L, C14orf119, C14orf93, CARMIL3, CBLN3, CCNB1IP1, CDH24, CEBPE, CFL2, CHD8, CHMP4A, CIDEB, CIROP, CLEC14A, CMA1, CMTM5, COCH, CPNE6, CTSG, DAD1, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DTD2, EAPP, EDDM3A, EDDM3B, EFS, EGILA, EGLN3, EGLN3-AS1, EMC9, FAM177A1, FITM1, FOXA1, FOXG1, FOXG1-AS1, G2E3, G2E3-AS1, GMPR2, GPR33, GZMB, GZMH, HAUS4, HEATR5A, HEATR5A-DT, HECTD1, HNRNPC, HOMEZ, IL25, INSM2, IPO4, IRF9, JPH4, KHNYN, KLHL33, LINC00517, LINC00596, LINC00609, LINC00639, LINC00641, LINC00645, LINC01551, LINC02281, LINC02282, LINC02286, LINC02293, LINC02294, LINC02300, LINC02313, LINC02326, LINC02327, LINC02332, LOC100506071, LOC101927045, LOC101927178, LOC101929718, LOC105370457, LOC105370705, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC108281111, LOC108281128, 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, LOC112268136, LOC112268478, LOC112268479, LOC114827851, LOC116268458, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC124958010, LOC124958011, LOC124958012, LOC124958013, LOC124958014, LOC124958015, LOC124958016, LOC124995348, LOC124995349, LOC124995350, LOC124995351, LOC124995352, LOC124995353, LOC124995354, LOC124995355, LOC124995356, LOC124995359, LOC124995360, LOC124995361, LOC124995362, LOC124995363, LOC124995364, LOC124995365, LOC124995366, LOC124995367, LOC124995368, LOC124995369, LOC124995370, LOC124995371, LOC124995372, LOC124995373, LOC126861878, LOC126861879, LOC126861880, LOC126861881, LOC126861882, LOC126861883, LOC126861884, LOC126861885, LOC126861886, LOC126861887, LOC126861888, LOC126861889, LOC126861890, LOC126861891, LOC126861892, LOC126861893, LOC126861894, LOC126861895, LOC126861896, LOC126861897, LOC126861898, LOC126861899, LOC126861900, LOC126861901, LOC126861902, LOC126861903, LOC126861904, LOC126861905, LOC126861906, LOC126861907, LOC126861908, LOC126861909, LOC126861910, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC126861915, LOC126861916, LOC126861917, LOC126861918, LOC126861919, LOC126861920, LOC126861921, LOC126861922, LOC126861923, LOC126861924, LOC126861925, LOC126861926, LRP10, LTB4R, LTB4R2, MBIP, MDP1, METTL17, METTL3, MHRT, MIPOL1, MIR208A, MIR208B, MIR3171, MIR3171HG, MIR4307, MIR4307HG, MIR4503, MIR4707, MIR624, MIR6717, MIR7703, MMP14, MRPL52, MYH6, MYH7, NDRG2, NEDD8, NEDD8-MDP1, NFATC4, NFKBIA, NGDN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NPAS3, NRL, NUBPL, NUBPL-DT, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR4K13, OR4K14, OR4K17, OR4L1, OR4N5, OR4Q2, OR5AU1, OR6J1, OR6S1, OSGEP, OXA1L, PABPN1, PARP2, PAX9, PCK2, PIP4P1, PNP, PPP1R3E, PPP2R3C, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PRORP-PSMA6, PSMA6, PSMB11, PSMB5, PSME1, PSME2, PTCSC3, RAB2B, RABGGTA, RALGAPA1, RBM23, REC8, REM2, RIPK3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPPH1, SALL2, SCFD1, SDR39U1, SFTA3, SLC22A17, SLC25A21, SLC25A21-AS1, SLC39A2, SLC7A7, SLC7A8, SNORA101B, SNORA79B, SNORA89, SNORD126, SNORD8, SNORD9, SNX6, SPTSSA, SRP54, SRP54-AS1, SSTR1, STRN3, STXBP6, SUPT16H, TEP1, TGM1, THTPA, TINF2, TM9SF1, TMEM253, TOX4, TPPP2, TRA, TRAC, 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, 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, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRL-AAG2-3, TRL-TAG2-1, 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, TSSK4, TTC5, TTC6, ZFHX2, ZNF219
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr14:20490852-44562875
GRCh38:
Chr14:20022693-44093672
ABHD4, ACIN1, ADCY4, AJUBA, AKAP6, ANG, AP1G2, AP1G2-AS1, AP4S1, APEX1, ARHGAP5, ARHGAP5-AS1, ARHGEF40, BAZ1A, BAZ1A-AS1, BCL2L2, BCL2L2-PABPN1, BRMS1L, C14orf119, C14orf93, CARMIL3, CBLN3, CCNB1IP1, CDH24, CEBPE, CFL2, CHD8, CHMP4A, CIDEB, CIROP, CLEC14A, CMA1, CMTM5, COCH, CPNE6, CTSG, DAD1, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DTD2, EAPP, EDDM3A, EDDM3B, EFS, EGILA, EGLN3, EGLN3-AS1, EMC9, FAM177A1, FBXO33, FITM1, FOXA1, FOXG1, FOXG1-AS1, G2E3, G2E3-AS1, GEMIN2, GMPR2, GPR33, GZMB, GZMH, HAUS4, HEATR5A, HEATR5A-DT, HECTD1, HNRNPC, HOMEZ, IL25, INSM2, IPO4, IRF9, JPH4, KHNYN, KLHL33, LINC00517, LINC00596, LINC00609, LINC00639, LINC00641, LINC00645, LINC01551, LINC02281, LINC02282, LINC02286, LINC02293, LINC02294, LINC02300, LINC02307, LINC02313, LINC02315, LINC02326, LINC02327, LINC02332, LOC100506071, LOC101927045, LOC101927178, LOC101929718, LOC105370457, LOC105370705, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC108281111, LOC108281128, 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, LOC112268136, LOC112268478, LOC112268479, LOC114827851, LOC116268458, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC124958010, LOC124958011, LOC124958012, LOC124958013, LOC124958014, LOC124958015, LOC124958016, LOC124995348, LOC124995349, LOC124995350, LOC124995351, LOC124995352, LOC124995353, LOC124995354, LOC124995355, LOC124995356, LOC124995359, LOC124995360, LOC124995361, LOC124995362, LOC124995363, LOC124995364, LOC124995365, LOC124995366, LOC124995367, LOC124995368, LOC124995369, LOC124995370, LOC124995371, LOC124995372, LOC124995373, LOC124995374, LOC125024475, LOC126861878, LOC126861879, LOC126861880, LOC126861881, LOC126861882, LOC126861883, LOC126861884, LOC126861885, LOC126861886, LOC126861887, LOC126861888, LOC126861889, LOC126861890, LOC126861891, LOC126861892, LOC126861893, LOC126861894, LOC126861895, LOC126861896, LOC126861897, LOC126861898, LOC126861899, LOC126861900, LOC126861901, LOC126861902, LOC126861903, LOC126861904, LOC126861905, LOC126861906, LOC126861907, LOC126861908, LOC126861909, LOC126861910, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC126861915, LOC126861916, LOC126861917, LOC126861918, LOC126861919, LOC126861920, LOC126861921, LOC126861922, LOC126861923, LOC126861924, LOC126861925, LOC126861926, LOC126861927, LOC126861928, LOC126861929, LOC126861930, LRFN5, LRP10, LTB4R, LTB4R2, MBIP, MDP1, METTL17, METTL3, MHRT, MIA2, MIA2-AS1, MIPOL1, MIR208A, MIR208B, MIR3171, MIR3171HG, MIR4307, MIR4307HG, MIR4503, MIR4707, MIR624, MIR6717, MIR7703, MMP14, MRPL52, MYH6, MYH7, NDRG2, NEDD8, NEDD8-MDP1, NFATC4, NFKBIA, NGDN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NPAS3, NRL, NUBPL, NUBPL-DT, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR4K13, OR4K17, OR4L1, OR4N5, OR5AU1, OR6J1, OR6S1, OSGEP, OXA1L, PABPN1, PARP2, PAX9, PCK2, PIP4P1, PNN, PNP, PPP1R3E, PPP2R3C, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PRORP-PSMA6, PSMA6, PSMB11, PSMB5, PSME1, PSME2, PTCSC3, RAB2B, RABGGTA, RALGAPA1, RBM23, REC8, REM2, RIPK3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPPH1, SALL2, SCFD1, SDR39U1, SEC23A, SEC23A-AS1, SFTA3, SLC22A17, SLC25A21, SLC25A21-AS1, SLC39A2, SLC7A7, SLC7A8, SNORA101B, SNORA79B, SNORA89, SNORD126, SNORD8, SNORD9, SNX6, SPTSSA, SRP54, SRP54-AS1, SSTR1, STRN3, STXBP6, SUPT16H, TEP1, TGM1, THTPA, TINF2, TM9SF1, TMEM253, TOX4, TPPP2, TRA, TRAC, 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, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRL-AAG2-3, TRL-TAG2-1, 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, TSSK4, TTC5, TTC6, ZFHX2, ZNF219
See casesPathogenic
(Jan 9, 2013)
no assertion criteria provided
3.
GRCh37:
Chr14:20511672-49111245
GRCh38:
Chr14:20043513-48642042
LOC126861906, LOC126861907, LOC126861908, LOC126861909, LOC126861910, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC126861915, LOC126861916, LOC126861917, LOC126861918, LOC126861919, LOC126861920, LOC126861921, LOC126861922, LOC126861923, LOC126861924, LOC126861925, LOC126861926, LOC126861927, LOC126861928, LOC126861929, LOC126861930, LOC126861931, LOC126861932, LOC126861933, LOC126861934, LOC126861935, LRFN5, LRP10, LTB4R, LTB4R2, MBIP, MDGA2, MDP1, METTL17, METTL3, MHRT, MIA2, MIA2-AS1, MIPOL1, MIR208A, MIR208B, MIR3171, MIR3171HG, MIR4307, MIR4307HG, MIR4503, MIR4707, MIR548Y, MIR624, MIR6717, MIR7703, MIS18BP1, MMP14, MRPL52, MYH6, MYH7, NDRG2, NEDD8, NEDD8-MDP1, NFATC4, NFKBIA, NGDN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NPAS3, NRL, NUBPL, NUBPL-DT, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR4K17, OR4L1, OR4N5, OR5AU1, OR6J1, OR6S1, OSGEP, OXA1L, PABPN1, PARP2, PAX9, PCK2, PIP4P1, PNN, PNP, PPP1R3E, PPP2R3C, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PRORP-PSMA6, PRPF39, PRPF39-DT, PSMA6, PSMB11, PSMB5, PSME1, PSME2, PTCSC3, RAB2B, RABGGTA, RALGAPA1, RBM23, REC8, REM2, RIPK3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPL10L, RPPH1, SALL2, SCFD1, SDR39U1, SEC23A, SEC23A-AS1, SFTA3, SLC22A17, SLC25A21, SLC25A21-AS1, SLC39A2, SLC7A7, SLC7A8, SNORA101B, SNORA79B, SNORA89, SNORD126, SNORD127, SNORD8, SNORD9, SNX6, SPTSSA, SRP54, SRP54-AS1, SSTR1, STRN3, STXBP6, SUPT16H, TEP1, TGM1, THTPA, TINF2, TM9SF1, TMEM253, TOGARAM1, TOX4, TPPP2, TRA, TRAC, 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, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRL-AAG2-3, TRL-TAG2-1, 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, TSSK4, TTC5, TTC6, ZFHX2, ZNF219, ABHD4, ACIN1, ADCY4, AJUBA, AKAP6, ANG, AP1G2, AP1G2-AS1, AP4S1, APEX1, ARHGAP5, ARHGAP5-AS1, ARHGEF40, BAZ1A, BAZ1A-AS1, BCL2L2, BCL2L2-PABPN1, BRMS1L, C14orf119, C14orf28, C14orf93, CARMIL3, CBLN3, CCNB1IP1, CDH24, CEBPE, CFL2, CHD8, CHMP4A, CIDEB, CIROP, CLEC14A, CMA1, CMTM5, COCH, CPNE6, CTSG, DAD1, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DTD2, EAPP, EDDM3A, EDDM3B, EFS, EGILA, EGLN3, EGLN3-AS1, EMC9, FAM177A1, FANCM, FBXO33, FITM1, FKBP3, FOXA1, FOXG1, FOXG1-AS1, FSCB, G2E3, G2E3-AS1, GEMIN2, GMPR2, GPR33, GZMB, GZMH, HAUS4, HEATR5A, HEATR5A-DT, HECTD1, HNRNPC, HOMEZ, IL25, INSM2, IPO4, IRF9, JPH4, KHNYN, KLHL28, KLHL33, LINC00517, LINC00596, LINC00609, LINC00639, LINC00641, LINC00645, LINC00648, LINC00871, LINC01551, LINC02281, LINC02282, LINC02286, LINC02293, LINC02294, LINC02300, LINC02302, LINC02303, LINC02307, LINC02313, LINC02315, LINC02326, LINC02327, LINC02332, LOC100506071, LOC101927045, LOC101927178, LOC101927418, LOC101929718, LOC105370457, LOC105370473, LOC105370705, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC108281111, LOC108281128, 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, LOC112268136, LOC112268478, LOC112268479, LOC114827851, LOC116268458, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121468012, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC121838591, LOC124958010, LOC124958011, LOC124958012, LOC124958013, LOC124958014, LOC124958015, LOC124958016, LOC124995348, LOC124995349, LOC124995350, LOC124995351, LOC124995352, LOC124995353, LOC124995354, LOC124995355, LOC124995356, LOC124995359, LOC124995360, LOC124995361, LOC124995362, LOC124995363, LOC124995364, LOC124995365, LOC124995366, LOC124995367, LOC124995368, LOC124995369, LOC124995370, LOC124995371, LOC124995372, LOC124995373, LOC124995374, LOC125024475, LOC126861878, LOC126861879, LOC126861880, LOC126861881, LOC126861882, LOC126861883, LOC126861884, LOC126861885, LOC126861886, LOC126861887, LOC126861888, LOC126861889, LOC126861890, LOC126861891, LOC126861892, LOC126861893, LOC126861894, LOC126861895, LOC126861896, LOC126861897, LOC126861898, LOC126861899, LOC126861900, LOC126861901, LOC126861902, LOC126861903, LOC126861904, LOC126861905
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
4.
GRCh37:
Chr14:20511673-107285437
GRCh38:
Chr14:20043514-106877229
ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTN1-DT, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, TRP-TGG3-2, TRR-ACG1-3, TRT-TGT3-1, TRT-TGT4-1, TRT-TGT5-1, TRY-GTA4-1, TRY-GTA5-3, TRY-GTA5-4, TRY-GTA5-5, TRY-GTA7-1, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC7B-AS1, TTC8, TTC9, TTC9-DT, TTLL5, TUNAR, TXNDC16, UBR7, UNC79, VASH1, VASH1-AS1, VCPKMT, VIPAS39, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP1G2-AS1, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGAP5-AS1, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BAZ1A-AS1, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, C14orf99, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC196, CCDC197, CCDC198, CCDC85C, CCDC88C, CCDC88C-DT, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CIROP, CKB, CLBA1, CLEC14A, CLMN, CMA1, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, COX8C, CPNE6, CPSF2, CRIP1, CRIP2, CTSG, CYP46A1, DAAM1, DACT1, DAD1, DCAF11, DCAF4, DCAF5, DDHD1, DDHD1-DT, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DHRS7, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DTD2, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGILA, EGLN3, EGLN3-AS1, EIF2B2, EIF2S1, EIF5, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FAM181A-AS1, FAM30A, FANCM, FBLN5, FBXO33, FBXO34, FBXO34-AS1, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLRT2-AS1, FLVCR2, FLVCR2-AS1, FNTB, FOS, FOXA1, FOXG1, FOXG1-AS1, FOXN3, FOXN3-AS1, FOXN3-AS2, FRMD6, FRMD6-AS1, FRMD6-AS2, FSCB, FUT8, FUT8-AS1, G2E3, G2E3-AS1, GALC, GALNT16, GALNT16-AS1, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HEATR5A-DT, HECTD1, HHIPL1, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, HISLA, HNRNPC, HOMEZ, HSP90AA1, HSPA2, HSPA2-AS1, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD1-1, IGHD1-14, IGHD1-20, IGHD1-26, IGHD1-7, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHD3-22, IGHD3-3, IGHD3-9, IGHD4-11, IGHD4-17, IGHD4-23, IGHD4-4, IGHD5-12, IGHD5-18, IGHD5-24, IGHD5-5, IGHD6-13, IGHD6-19, IGHD6-25, IGHD6-6, IGHD7-27, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-69-2, IGHV1-69D, IGHV2-26, IGHV2-5, IGHV2-70, IGHV2-70D, IGHV3-11, IGHV3-13, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-64D, IGHV3-66, IGHV3-7, IGHV3-72, IGHV3-73, IGHV3-74, IGHV4-28, IGHV4-30-2, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-10-1, IGHV5-51, IGHV6-1, IGHV7-4-1, IGHV7-81, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KIF26A-DT, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, KTN1-AS1, L2HGDH, L3HYPDH, LBHD2, LGALS3, LGMN, LIN52, LINC00216, LINC00221, LINC00226, LINC00239, LINC00341, LINC00517, LINC00519, LINC00520, LINC00523, LINC00524, LINC00596, LINC00605, LINC00609, LINC00618, LINC00638, LINC00639, LINC00640, LINC00641, LINC00642, LINC00643, LINC00644, LINC00645, LINC00648, LINC00677, LINC00871, LINC00911, LINC01147, LINC01148, LINC01220, LINC01269, LINC01303, LINC01467, LINC01500, LINC01550, LINC01551, LINC01588, LINC01599, LINC01629, LINC02274, LINC02280, LINC02281, LINC02282, LINC02284, LINC02285, LINC02286, LINC02287, LINC02288, LINC02289, LINC02290, LINC02291, LINC02292, LINC02293, LINC02294, LINC02295, LINC02296, LINC02298, LINC02299, LINC02300, LINC02301, LINC02302, LINC02303, LINC02304, LINC02305, LINC02307, LINC02308, LINC02309, LINC02310, LINC02311, LINC02312, LINC02313, LINC02314, LINC02315, LINC02316, LINC02317, LINC02318, LINC02319, LINC02320, LINC02321, LINC02322, LINC02323, LINC02324, LINC02325, LINC02326, LINC02327, LINC02328, LINC02329, LINC02330, LINC02331, LINC02332, LINC02691, LINC02833, LINC02914, LINC03033, LOC100289511, LOC100506071, LOC100506321, LOC100506358, LOC100506499, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101928143, LOC101929718, LOC102723604, LOC105370457, LOC105370473, LOC105370489, LOC105370579, LOC105370586, LOC105370619, LOC105370622, LOC105370687, LOC105370697, LOC105370705, LOC105378183, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, LOC109433677, LOC109433679, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120910, LOC110120925, LOC110121319, LOC110121324, LOC110121325, LOC110121326, LOC110121327, LOC110121333, LOC110121354, LOC110121358, LOC110121362, LOC110121372, LOC110121376, LOC110121377, LOC110121391, LOC110121392, LOC110121404, LOC110121407, LOC110121412, LOC110121414, LOC110121422, LOC110121424, LOC110121431, LOC110121433, LOC110121447, LOC110121459, LOC110121463, LOC110121490, LOC110121504, LOC111365186, LOC111365187, LOC111365188, LOC111365217, LOC111365221, LOC111413013, LOC111413016, LOC111413041, LOC111500315, LOC111556149, LOC111591503, LOC111721711, LOC111811966, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268136, LOC112268140, LOC112268478, LOC112268479, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC112268486, LOC112272545, LOC112272546, LOC112272548, LOC112272549, LOC112272550, LOC112272551, LOC112272552, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC114827851, LOC116268458, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121468012, LOC121468013, LOC121468014, LOC121468015, LOC121468016, LOC121529649, LOC121529650, LOC121529651, LOC121529652, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC121838591, LOC121838592, LOC121838593, LOC121838594, LOC121838595, LOC121838596, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, LOC124958010, LOC124958011, LOC124958012, LOC124958013, LOC124958014, LOC124958015, LOC124958016, LOC124995348, LOC124995349, LOC124995350, LOC124995351, LOC124995352, LOC124995353, LOC124995354, LOC124995355, LOC124995356, LOC124995359, LOC124995360, LOC124995361, LOC124995362, LOC124995363, LOC124995364, LOC124995365, LOC124995366, LOC124995367, LOC124995368, LOC124995369, LOC124995370, LOC124995371, LOC124995372, LOC124995373, LOC124995374, LOC125024475, LOC125024476, LOC125024477, LOC125024478, LOC125024479, LOC125024480, LOC125024481, LOC125024482, LOC125024483, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC125024491, LOC125024492, LOC125024493, LOC125024495, LOC125024496, LOC125024497, LOC125024498, LOC125024499, LOC125024500, LOC125024501, LOC125024503, LOC125024505, LOC125024506, LOC125048423, LOC125048424, LOC125048425, LOC125048426, LOC125048427, LOC125048428, LOC125048429, LOC125048430, LOC125048431, LOC125048432, LOC125048433, LOC125048434, LOC125048435, LOC125048436, LOC125048437, LOC125048439, LOC125048440, LOC125048441, LOC125048442, LOC125048444, LOC125048445, LOC125048446, LOC125048447, LOC125048449, LOC125048450, LOC125048451, LOC125048452, LOC125048453, LOC125048454, LOC125048455, LOC125048456, LOC125048457, LOC125078019, LOC125078020, LOC125078021, LOC125078022, LOC125078024, LOC125078025, LOC125078026, LOC125078027, LOC125078028, LOC125078030, LOC125078031, LOC125078034, LOC125078035, LOC125078036, LOC125078037, LOC125078038, LOC125078039, LOC125078040, LOC125078042, LOC125078043, LOC125078045, LOC126861878, LOC126861879, LOC126861880, LOC126861881, LOC126861882, LOC126861883, LOC126861884, LOC126861885, LOC126861886, LOC126861887, LOC126861888, LOC126861889, LOC126861890, LOC126861891, LOC126861892, LOC126861893, LOC126861894, LOC126861895, LOC126861896, LOC126861897, LOC126861898, LOC126861899, LOC126861900, LOC126861901, LOC126861902, LOC126861903, LOC126861904, LOC126861905, LOC126861906, LOC126861907, LOC126861908, LOC126861909, LOC126861910, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC126861915, LOC126861916, LOC126861917, LOC126861918, LOC126861919, LOC126861920, LOC126861921, LOC126861922, LOC126861923, LOC126861924, LOC126861925, LOC126861926, LOC126861927, LOC126861928, LOC126861929, LOC126861930, LOC126861931, LOC126861932, LOC126861933, LOC126861934, LOC126861935, LOC126861936, LOC126861937, LOC126861938, LOC126861939, LOC126861940, LOC126861941, LOC126861942, LOC126861943, LOC126861944, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC126861953, LOC126861954, LOC126861955, LOC126861956, LOC126861957, LOC126861958, LOC126861959, LOC126861960, LOC126861961, LOC126861962, LOC126861963, LOC126861964, LOC126861965, LOC126861966, LOC126861967, LOC126861968, LOC126861969, LOC126861970, LOC126861971, LOC126861972, LOC126861973, LOC126861974, LOC126861975, LOC126861976, LOC126861977, LOC126861978, LOC126861979, LOC126861980, LOC126861981, LOC126861982, LOC126861983, LOC126861984, LOC126861985, LOC126861986, LOC126861987, LOC126861988, LOC126861989, LOC126861990, LOC126861991, LOC126861992, LOC126861993, LOC126861994, LOC126861995, LOC126861996, LOC126861997, LOC126861998, LOC126861999, LOC126862000, LOC126862001, LOC126862002, LOC126862003, LOC126862004, LOC126862005, LOC126862006, LOC126862007, LOC126862008, LOC126862009, LOC126862010, LOC126862011, LOC126862012, LOC126862013, LOC126862014, LOC126862015, LOC126862016, LOC126862017, LOC126862018, LOC126862019, LOC126862020, LOC126862021, LOC126862022, LOC126862023, LOC126862024, LOC126862025, LOC126862026, LOC126862027, LOC126862028, LOC126862029, LOC126862030, LOC126862031, LOC126862032, LOC126862033, LOC126862034, LOC126862035, LOC126862036, LOC126862037, LOC126862038, LOC126862039, LOC126862040, LOC126862041, LOC126862042, LOC126862043, LOC126862044, LOC126862045, LOC126862046, LOC126862047, LOC126862048, LOC126862049, LOC126862050, LOC126862051, LOC126862052, LOC126862053, LOC126862054, LOC126862055, LOC126862056, LOC126862057, LOC126862058, LOC126862059, LOC126862060, LOC126862061, LOC126862062, LOC126862063, LOC126862064, LOC126862065, LOC126862066, LOC126862067, LOC126862068, LOC126862069, LOC126862070, LOC126862071, LOC126862072, LOC126862073, LOC145474, LOC400212, LRFN5, LRP10, LRR1, LRRC74A, LRRC9, LTB4R, LTB4R2, LTBP2, LYSET, MAP3K9, MAP3K9-DT, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, MEG9, METTL17, METTL3, MGAT2, MHRT, MIA2, MIA2-AS1, MIDEAS, MIDEAS-AS1, MIPOL1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR208A, MIR208B, MIR2392, MIR299, MIR300, MIR3171, MIR3171HG, MIR3173, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR337, MIR342, MIR345, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR4307, MIR4307HG, MIR4308, MIR4309, MIR431, MIR432, MIR433, MIR4503, MIR4504, MIR4505, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4706, MIR4707, MIR4708, MIR4709, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR548H1, MIR548Y, MIR5580, MIR5586, MIR5694, MIR6076, MIR624, MIR625, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6717, MIR6764, MIR6765, MIR758, MIR7641-2, MIR770, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR8071-2, MIR889, MIR9718, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTA1-DT, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NRXN3, NUBPL, NUBPL-DT, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR4K17, OR4L1, OR4N5, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OTX2, OTX2-AS1, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPLN-AS1, PAPOLA, PAPOLA-DT, PARP2, PAX9, PCK2, PCNX1, PCNX4, PCNX4-DT, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R13B-DT, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PRKCH-AS1, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PRORP-PSMA6, PROX2, PRPF39, PRPF39-DT, PSEN1, PSMA3, PSMA3-AS1, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, RBM25-AS1, RCOR1, RD3L, RDH11, RDH12, REC8, REM2, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SALRNA1, SAMD15, SAMD4A, SAMD4A-AS1, SAV1, SCARNA13, SCFD1, SDR39U1, SEC23A, SEC23A-AS1, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIPA1L1-AS1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC24A4, SLC25A21, SLC25A21-AS1, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNHG23, SNHG24, SNORA101B, SNORA11B, SNORA28, SNORA79, SNORA79B, SNORA89, SNORD112, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD126, SNORD127, SNORD169, SNORD3P3, SNORD56B, SNORD8, SNORD9, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SPTSSA, SRP54, SRP54-AS1, SRSF5, SSTR1, STON2, STRN3, STXBP6, STYX, SUPT16H, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYNJ2BP-COX16, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEP1, TEX22, TGFB3, TGM1, THTPA, TIMM9, TINF2, TM9SF1, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOMM20L-DT, TOX4, TPPP2, TRA, TRA-AGC15-1, TRAC, TRAF3, TRAJ1, TRAJ10, TRAJ11, TRAJ12, TRAJ13, TRAJ14, TRAJ15, TRAJ16, TRAJ17, TRAJ18, TRAJ19, TRAJ2, TRAJ20, TRAJ21, TRAJ22, TRAJ23, TRAJ24, TRAJ25, TRAJ26, TRAJ27, TRAJ28, TRAJ29, TRAJ3, TRAJ30, TRAJ31, TRAJ32, TRAJ33, TRAJ34, TRAJ35, TRAJ36, TRAJ37, TRAJ38, TRAJ39, TRAJ4, TRAJ40, TRAJ41, TRAJ42, TRAJ43, TRAJ44, TRAJ45, TRAJ46, TRAJ47, TRAJ48, TRAJ49, TRAJ5, TRAJ50, TRAJ52, TRAJ53, TRAJ54, TRAJ56, TRAJ57, TRAJ58, TRAJ59, TRAJ6, TRAJ61, TRAJ7, TRAJ8, TRAJ9, TRAPPC6B, TRAV1-1, TRAV1-2, TRAV10, TRAV12-1, TRAV12-2, TRAV12-3, TRAV13-1, TRAV13-2, TRAV14DV4, TRAV16, TRAV17, TRAV18, TRAV19, TRAV2, TRAV20, TRAV21, TRAV22, TRAV23DV6, TRAV24, TRAV25, TRAV26-1, TRAV26-2, TRAV27, TRAV29DV5, TRAV3, TRAV30, TRAV34, TRAV35, TRAV36DV7, TRAV38-1, TRAV38-2DV8, TRAV39, TRAV4, TRAV40, TRAV41, TRAV5, TRAV6, TRAV7, TRAV8-1, TRAV8-2, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-1, TRAV9-2, TRC-GCA8-1, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRI-AAT5-4, TRIM9, TRIP11, TRK-CTT1-1, TRL-AAG2-3, TRL-TAG2-1, TRMT5, TRMT61A, TRP-AGG2-5, TRP-AGG2-6, TRP-TGG1-1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
5.
GRCh37:
Chr14:20619308-107263478
GRCh38:
Chr14:20151149-106855263
IGHV3-72, IGHV3-73, IGHV3-74, IGHV4-28, IGHV4-30-2, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-10-1, IGHV5-51, IGHV6-1, IGHV7-4-1, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KIF26A-DT, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, KTN1-AS1, L2HGDH, L3HYPDH, LBHD2, LGALS3, LGMN, LIN52, LINC00216, LINC00221, LINC00226, LINC00239, LINC00341, LINC00517, LINC00519, LINC00520, LINC00523, LINC00524, LINC00596, LINC00605, LINC00609, LINC00618, LINC00638, LINC00639, LINC00640, LINC00641, LINC00642, LINC00643, LINC00644, LINC00645, LINC00648, LINC00677, LINC00871, LINC00911, LINC01147, LINC01148, LINC01220, LINC01269, LINC01303, LINC01467, LINC01500, LINC01550, LINC01551, LINC01588, LINC01599, LINC01629, LINC02274, LINC02280, LINC02281, LINC02282, LINC02284, LINC02285, LINC02286, LINC02287, LINC02288, LINC02289, LINC02290, LINC02291, LINC02292, LINC02293, LINC02294, LINC02295, LINC02296, LINC02298, LINC02299, LINC02300, LINC02301, LINC02302, LINC02303, LINC02304, LINC02305, LINC02307, LINC02308, LINC02309, LINC02310, LINC02311, LINC02312, LINC02313, LINC02314, LINC02315, LINC02316, LINC02317, LINC02318, LINC02319, LINC02320, LINC02321, LINC02322, LINC02323, LINC02324, LINC02325, LINC02326, LINC02327, LINC02328, LINC02329, LINC02330, LINC02331, LINC02332, LINC02691, LINC02833, LINC02914, LINC03033, LOC100289511, LOC100506071, LOC100506321, LOC100506358, LOC100506499, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101928143, LOC101929718, LOC102723604, LOC105370457, LOC105370473, LOC105370489, LOC105370579, LOC105370586, LOC105370619, LOC105370622, LOC105370687, LOC105370697, LOC105370705, LOC105378183, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, LOC109433677, LOC109433679, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120910, LOC110120925, LOC110121319, LOC110121324, LOC110121325, LOC110121326, LOC110121327, LOC110121333, LOC110121354, LOC110121358, LOC110121362, LOC110121372, LOC110121376, LOC110121377, LOC110121391, LOC110121392, LOC110121404, LOC110121407, LOC110121412, LOC110121414, LOC110121422, LOC110121424, LOC110121431, LOC110121433, LOC110121447, LOC110121459, LOC110121463, LOC110121490, LOC110121504, LOC111365186, LOC111365187, LOC111365188, LOC111365217, LOC111365221, LOC111413013, LOC111413016, LOC111413041, LOC111500315, LOC111556149, LOC111591503, LOC111721711, LOC111811966, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268136, LOC112268140, LOC112268478, LOC112268479, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC112268486, LOC112272545, LOC112272546, LOC112272548, LOC112272549, LOC112272550, LOC112272551, LOC112272552, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC114827851, LOC116268458, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121468012, LOC121468013, LOC121468014, LOC121468015, LOC121468016, LOC121529649, LOC121529650, LOC121529651, LOC121529652, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC121838591, LOC121838592, LOC121838593, LOC121838594, LOC121838595, LOC121838596, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, LOC124958010, LOC124958011, LOC124958012, LOC124958013, LOC124958014, LOC124958015, LOC124958016, LOC124995348, LOC124995349, LOC124995350, LOC124995351, LOC124995352, LOC124995353, LOC124995354, LOC124995355, LOC124995356, LOC124995359, LOC124995360, LOC124995361, LOC124995362, LOC124995363, LOC124995364, LOC124995365, LOC124995366, LOC124995367, LOC124995368, LOC124995369, LOC124995370, LOC124995371, LOC124995372, LOC124995373, LOC124995374, LOC125024475, LOC125024476, LOC125024477, LOC125024478, LOC125024479, LOC125024480, LOC125024481, LOC125024482, LOC125024483, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC125024491, LOC125024492, LOC125024493, LOC125024495, LOC125024496, LOC125024497, LOC125024498, LOC125024499, LOC125024500, LOC125024501, LOC125024503, LOC125024505, LOC125024506, LOC125048423, LOC125048424, LOC125048425, LOC125048426, LOC125048427, LOC125048428, LOC125048429, LOC125048430, LOC125048431, LOC125048432, LOC125048433, LOC125048434, LOC125048435, LOC125048436, LOC125048437, LOC125048439, LOC125048440, LOC125048441, LOC125048442, LOC125048444, LOC125048445, LOC125048446, LOC125048447, LOC125048449, LOC125048450, LOC125048451, LOC125048452, LOC125048453, LOC125048454, LOC125048455, LOC125048456, LOC125048457, LOC125078019, LOC125078020, LOC125078021, LOC125078022, LOC125078024, LOC125078025, LOC125078026, LOC125078027, LOC125078028, LOC125078030, LOC125078031, LOC125078034, LOC125078035, LOC125078036, LOC125078037, LOC125078038, LOC125078039, LOC125078040, LOC125078042, LOC125078043, LOC125078045, LOC126861878, LOC126861879, LOC126861880, LOC126861881, LOC126861882, LOC126861883, LOC126861884, LOC126861885, LOC126861886, LOC126861887, LOC126861888, LOC126861889, LOC126861890, LOC126861891, LOC126861892, LOC126861893, LOC126861894, LOC126861895, LOC126861896, LOC126861897, LOC126861898, LOC126861899, LOC126861900, LOC126861901, LOC126861902, LOC126861903, LOC126861904, LOC126861905, LOC126861906, LOC126861907, LOC126861908, LOC126861909, LOC126861910, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC126861915, LOC126861916, LOC126861917, LOC126861918, LOC126861919, LOC126861920, LOC126861921, LOC126861922, LOC126861923, LOC126861924, LOC126861925, LOC126861926, LOC126861927, LOC126861928, LOC126861929, LOC126861930, LOC126861931, LOC126861932, LOC126861933, LOC126861934, LOC126861935, LOC126861936, LOC126861937, LOC126861938, LOC126861939, LOC126861940, LOC126861941, LOC126861942, LOC126861943, LOC126861944, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC126861953, LOC126861954, LOC126861955, LOC126861956, LOC126861957, LOC126861958, LOC126861959, LOC126861960, LOC126861961, LOC126861962, LOC126861963, LOC126861964, LOC126861965, LOC126861966, LOC126861967, LOC126861968, LOC126861969, LOC126861970, LOC126861971, LOC126861972, LOC126861973, LOC126861974, LOC126861975, LOC126861976, LOC126861977, LOC126861978, LOC126861979, LOC126861980, LOC126861981, LOC126861982, LOC126861983, LOC126861984, LOC126861985, LOC126861986, LOC126861987, LOC126861988, LOC126861989, LOC126861990, LOC126861991, LOC126861992, LOC126861993, LOC126861994, LOC126861995, LOC126861996, LOC126861997, LOC126861998, LOC126861999, LOC126862000, LOC126862001, LOC126862002, LOC126862003, LOC126862004, LOC126862005, LOC126862006, LOC126862007, LOC126862008, LOC126862009, LOC126862010, LOC126862011, LOC126862012, LOC126862013, LOC126862014, LOC126862015, LOC126862016, LOC126862017, LOC126862018, LOC126862019, LOC126862020, LOC126862021, LOC126862022, LOC126862023, LOC126862024, LOC126862025, LOC126862026, LOC126862027, LOC126862028, LOC126862029, LOC126862030, LOC126862031, LOC126862032, LOC126862033, LOC126862034, LOC126862035, LOC126862036, LOC126862037, LOC126862038, LOC126862039, LOC126862040, LOC126862041, LOC126862042, LOC126862043, LOC126862044, LOC126862045, LOC126862046, LOC126862047, LOC126862048, LOC126862049, LOC126862050, LOC126862051, LOC126862052, LOC126862053, LOC126862054, LOC126862055, LOC126862056, LOC126862057, LOC126862058, LOC126862059, LOC126862060, LOC126862061, LOC126862062, LOC126862063, LOC126862064, LOC126862065, LOC126862066, LOC126862067, LOC126862068, LOC126862069, LOC126862070, LOC126862071, LOC126862072, LOC126862073, LOC145474, LOC400212, LRFN5, LRP10, LRR1, LRRC74A, LRRC9, LTB4R, LTB4R2, LTBP2, LYSET, MAP3K9, MAP3K9-DT, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, MEG9, METTL17, METTL3, MGAT2, MHRT, MIA2, MIA2-AS1, MIDEAS, MIDEAS-AS1, MIPOL1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR208A, MIR208B, MIR2392, MIR299, MIR300, MIR3171, MIR3171HG, MIR3173, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR337, MIR342, MIR345, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR4307, MIR4307HG, MIR4308, MIR4309, MIR431, MIR432, MIR433, MIR4503, MIR4504, MIR4505, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4706, MIR4707, MIR4708, MIR4709, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR548H1, MIR548Y, MIR5580, MIR5586, MIR5694, MIR6076, MIR624, MIR625, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6717, MIR6764, MIR6765, MIR758, MIR7641-2, MIR770, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR8071-2, MIR889, MIR9718, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTA1-DT, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NRXN3, NUBPL, NUBPL-DT, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OTX2, OTX2-AS1, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPLN-AS1, PAPOLA, PAPOLA-DT, PARP2, PAX9, PCK2, PCNX1, PCNX4, PCNX4-DT, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R13B-DT, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PRKCH-AS1, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PRORP-PSMA6, PROX2, PRPF39, PRPF39-DT, PSEN1, PSMA3, PSMA3-AS1, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, RBM25-AS1, RCOR1, RD3L, RDH11, RDH12, REC8, REM2, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SALRNA1, SAMD15, SAMD4A, SAMD4A-AS1, SAV1, SCARNA13, SCFD1, SDR39U1, SEC23A, SEC23A-AS1, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIPA1L1-AS1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC24A4, SLC25A21, SLC25A21-AS1, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNHG23, SNHG24, SNORA101B, SNORA11B, SNORA28, SNORA79, SNORA79B, SNORA89, SNORD112, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD126, SNORD127, SNORD169, SNORD3P3, SNORD56B, SNORD8, SNORD9, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SPTSSA, SRP54, SRP54-AS1, SRSF5, SSTR1, STON2, STRN3, STXBP6, STYX, SUPT16H, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYNJ2BP-COX16, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEP1, TEX22, TGFB3, TGM1, THTPA, TIMM9, TINF2, TM9SF1, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOMM20L-DT, TOX4, TPPP2, TRA, TRA-AGC15-1, TRAC, TRAF3, TRAJ1, TRAJ10, TRAJ11, TRAJ12, TRAJ13, TRAJ14, TRAJ15, TRAJ16, TRAJ17, TRAJ18, TRAJ19, TRAJ2, TRAJ20, TRAJ21, TRAJ22, TRAJ23, TRAJ24, TRAJ25, TRAJ26, TRAJ27, TRAJ28, TRAJ29, TRAJ3, TRAJ30, TRAJ31, TRAJ32, TRAJ33, TRAJ34, TRAJ35, TRAJ36, TRAJ37, TRAJ38, TRAJ39, TRAJ4, TRAJ40, TRAJ41, TRAJ42, TRAJ43, TRAJ44, TRAJ45, TRAJ46, TRAJ47, TRAJ48, TRAJ49, TRAJ5, TRAJ50, TRAJ52, TRAJ53, TRAJ54, TRAJ56, TRAJ57, TRAJ58, TRAJ59, TRAJ6, TRAJ61, TRAJ7, TRAJ8, TRAJ9, TRAPPC6B, TRAV1-1, TRAV1-2, TRAV10, TRAV12-1, TRAV12-2, TRAV12-3, TRAV13-1, TRAV13-2, TRAV14DV4, TRAV16, TRAV17, TRAV18, TRAV19, TRAV2, TRAV20, TRAV21, TRAV22, TRAV23DV6, TRAV24, TRAV25, TRAV26-1, TRAV26-2, TRAV27, TRAV29DV5, TRAV3, TRAV30, TRAV34, TRAV35, TRAV36DV7, TRAV38-1, TRAV38-2DV8, TRAV39, TRAV4, TRAV40, TRAV41, TRAV5, TRAV6, TRAV7, TRAV8-1, TRAV8-2, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-1, TRAV9-2, TRC-GCA8-1, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRI-AAT5-4, TRIM9, TRIP11, TRK-CTT1-1, TRL-AAG2-3, TRL-TAG2-1, TRMT5, TRMT61A, TRP-AGG2-5, TRP-AGG2-6, TRP-TGG1-1, TRP-TGG3-2, TRR-ACG1-3, TRT-TGT3-1, TRT-TGT4-1, TRT-TGT5-1, TRY-GTA4-1, TRY-GTA5-3, TRY-GTA5-4, TRY-GTA5-5, TRY-GTA7-1, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC7B-AS1, TTC8, TTC9, TTC9-DT, TTLL5, TUNAR, TXNDC16, UBR7, UNC79, VASH1, VASH1-AS1, VCPKMT, VIPAS39, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839, ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTN1-DT, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP1G2-AS1, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGAP5-AS1, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BAZ1A-AS1, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, C14orf99, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC196, CCDC197, CCDC198, CCDC85C, CCDC88C, CCDC88C-DT, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CIROP, CKB, CLBA1, CLEC14A, CLMN, CMA1, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, COX8C, CPNE6, CPSF2, CRIP1, CRIP2, CTSG, CYP46A1, DAAM1, DACT1, DAD1, DCAF11, DCAF4, DCAF5, DDHD1, DDHD1-DT, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DHRS7, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DTD2, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGILA, EGLN3, EGLN3-AS1, EIF2B2, EIF2S1, EIF5, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FAM181A-AS1, FAM30A, FANCM, FBLN5, FBXO33, FBXO34, FBXO34-AS1, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLRT2-AS1, FLVCR2, FLVCR2-AS1, FNTB, FOS, FOXA1, FOXG1, FOXG1-AS1, FOXN3, FOXN3-AS1, FOXN3-AS2, FRMD6, FRMD6-AS1, FRMD6-AS2, FSCB, FUT8, FUT8-AS1, G2E3, G2E3-AS1, GALC, GALNT16, GALNT16-AS1, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HEATR5A-DT, HECTD1, HHIPL1, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, HISLA, HNRNPC, HOMEZ, HSP90AA1, HSPA2, HSPA2-AS1, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD1-1, IGHD1-14, IGHD1-20, IGHD1-26, IGHD1-7, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHD3-22, IGHD3-3, IGHD3-9, IGHD4-11, IGHD4-17, IGHD4-23, IGHD4-4, IGHD5-12, IGHD5-18, IGHD5-24, IGHD5-5, IGHD6-13, IGHD6-19, IGHD6-25, IGHD6-6, IGHD7-27, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-69-2, IGHV1-69D, IGHV2-26, IGHV2-5, IGHV2-70, IGHV2-70D, IGHV3-11, IGHV3-13, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-64D, IGHV3-66, IGHV3-7
See casesPathogenic
(Jan 14, 2011)
no assertion criteria provided
6.
GRCh37:
Chr14:20619308-23911404
GRCh38:
Chr14:20151149-23442195
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, 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, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRL-AAG2-3, TRL-TAG2-1, 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, TTC5, ZNF219, ABHD4, ACIN1, AJUBA, ANG, APEX1, ARHGEF40, BCL2L2, BCL2L2-PABPN1, C14orf119, C14orf93, CCNB1IP1, CDH24, CEBPE, CHD8, CIROP, CMTM5, DAD1, EDDM3A, EDDM3B, EFS, EGILA, HAUS4, HNRNPC, HOMEZ, IL25, KLHL33, LINC00641, LINC02332, LOC101929718, LOC105370705, LOC107372315, LOC110121424, LOC110121433, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC114827851, LOC121838585, LOC121838586, LOC121838587, LOC124958010, LOC124958011, LOC124958012, LOC124958013, LOC124958014, LOC124958015, LOC124958016, LOC126861878, LOC126861879, LOC126861880, LOC126861881, LOC126861882, LOC126861883, LOC126861884, LOC126861885, LOC126861886, LOC126861887, LOC126861888, LOC126861889, LOC126861890, LOC126861891, LOC126861892, LOC126861893, LOC126861894, LOC126861895, LOC126861896, LOC126861897, LOC126861898, LRP10, METTL17, METTL3, MHRT, MIR208A, MIR208B, MIR4707, MIR6717, MMP14, MRPL52, MYH6, MYH7, NDRG2, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR5AU1, OR6J1, OR6S1, OSGEP, OXA1L, PABPN1, PARP2, PIP4P1, PNP, PPP1R3E, PRMT5, PRMT5-AS1, PRMT5-DT, PSMB11, PSMB5, RAB2B, RBM23, REM2, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RPGRIP1, RPPH1, SALL2, SLC22A17, SLC39A2, SLC7A7, SLC7A8, SNORA79B, SNORD126, SNORD8, SNORD9, SUPT16H, TEP1, TMEM253, TOX4, TPPP2, TRA, TRAC, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr14:20665104-45754005
GRCh38:
Chr14:20196945-45284802
ABHD4, ACIN1, ADCY4, AJUBA, AKAP6, ANG, AP1G2, AP1G2-AS1, AP4S1, APEX1, ARHGAP5, ARHGAP5-AS1, ARHGEF40, BAZ1A, BAZ1A-AS1, BCL2L2, BCL2L2-PABPN1, BRMS1L, C14orf119, C14orf28, C14orf93, CARMIL3, CBLN3, CCNB1IP1, CDH24, CEBPE, CFL2, CHD8, CHMP4A, CIDEB, CIROP, CLEC14A, CMA1, CMTM5, COCH, CPNE6, CTSG, DAD1, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DTD2, EAPP, EDDM3A, EDDM3B, EFS, EGILA, EGLN3, EGLN3-AS1, EMC9, FAM177A1, FANCM, FBXO33, FITM1, FKBP3, FOXA1, FOXG1, FOXG1-AS1, FSCB, G2E3, G2E3-AS1, GEMIN2, GMPR2, GPR33, GZMB, GZMH, HAUS4, HEATR5A, HEATR5A-DT, HECTD1, HNRNPC, HOMEZ, IL25, INSM2, IPO4, IRF9, JPH4, KHNYN, KLHL28, KLHL33, LINC00517, LINC00596, LINC00609, LINC00639, LINC00641, LINC00645, LINC01551, LINC02281, LINC02282, LINC02286, LINC02293, LINC02294, LINC02300, LINC02302, LINC02307, LINC02313, LINC02315, LINC02326, LINC02327, LINC02332, LOC100506071, LOC101927045, LOC101927178, LOC101927418, LOC101929718, LOC105370457, LOC105370473, LOC105370705, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC108281111, LOC108281128, 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, LOC112268136, LOC112268478, LOC112268479, LOC114827851, LOC116268458, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121468012, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC121838591, LOC124958010, LOC124958011, LOC124958012, LOC124958013, LOC124958014, LOC124958015, LOC124958016, LOC124995348, LOC124995349, LOC124995350, LOC124995351, LOC124995352, LOC124995353, LOC124995354, LOC124995355, LOC124995356, LOC124995359, LOC124995360, LOC124995361, LOC124995362, LOC124995363, LOC124995364, LOC124995365, LOC124995366, LOC124995367, LOC124995368, LOC124995369, LOC124995370, LOC124995371, LOC124995372, LOC124995373, LOC124995374, LOC125024475, LOC126861878, LOC126861879, LOC126861880, LOC126861881, LOC126861882, LOC126861883, LOC126861884, LOC126861885, LOC126861886, LOC126861887, LOC126861888, LOC126861889, LOC126861890, LOC126861891, LOC126861892, LOC126861893, LOC126861894, LOC126861895, LOC126861896, LOC126861897, LOC126861898, LOC126861899, LOC126861900, LOC126861901, LOC126861902, LOC126861903, LOC126861904, LOC126861905, LOC126861906, LOC126861907, LOC126861908, LOC126861909, LOC126861910, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC126861915, LOC126861916, LOC126861917, LOC126861918, LOC126861919, LOC126861920, LOC126861921, LOC126861922, LOC126861923, LOC126861924, LOC126861925, LOC126861926, LOC126861927, LOC126861928, LOC126861929, LOC126861930, LOC126861931, LRFN5, LRP10, LTB4R, LTB4R2, MBIP, MDP1, METTL17, METTL3, MHRT, MIA2, MIA2-AS1, MIPOL1, MIR208A, MIR208B, MIR3171, MIR3171HG, MIR4307, MIR4307HG, MIR4503, MIR4707, MIR624, MIR6717, MIR7703, MIS18BP1, MMP14, MRPL52, MYH6, MYH7, NDRG2, NEDD8, NEDD8-MDP1, NFATC4, NFKBIA, NGDN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NPAS3, NRL, NUBPL, NUBPL-DT, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR5AU1, OR6J1, OR6S1, OSGEP, OXA1L, PABPN1, PARP2, PAX9, PCK2, PIP4P1, PNN, PNP, PPP1R3E, PPP2R3C, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PRORP-PSMA6, PRPF39, PRPF39-DT, PSMA6, PSMB11, PSMB5, PSME1, PSME2, PTCSC3, RAB2B, RABGGTA, RALGAPA1, RBM23, REC8, REM2, RIPK3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPPH1, SALL2, SCFD1, SDR39U1, SEC23A, SEC23A-AS1, SFTA3, SLC22A17, SLC25A21, SLC25A21-AS1, SLC39A2, SLC7A7, SLC7A8, SNORA101B, SNORA79B, SNORA89, SNORD126, SNORD127, SNORD8, SNORD9, SNX6, SPTSSA, SRP54, SRP54-AS1, SSTR1, STRN3, STXBP6, SUPT16H, TEP1, TGM1, THTPA, TINF2, TM9SF1, TMEM253, TOGARAM1, TOX4, TPPP2, TRA, TRAC, 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, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRL-AAG2-3, TRL-TAG2-1, 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, TSSK4, TTC5, TTC6, ZFHX2, ZNF219
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr14:20880746-25487326
GRCh38:
Chr14:20412587-25018120