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Did you mean MYH6 as a gene symbol? Search ClinVar for MYH6

See MYH6 myosin heavy chain 6 in the Gene database

Search results

Items: 1 to 100 of 1511

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr14:20468770-39453619
GRCh38:
Chr14:20000611-38984415
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, 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, 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, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059932
2.
GRCh37:
Chr14:20490852-44562875
GRCh38:
Chr14:20022693-44093672
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, 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, 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, ABHD4, ACIN1, ADCY4, AJUBA, AKAP6, ANG, AP1G2
See casesPathogenic
(Jan 9, 2013)
no assertion criteria providedVCV000155119
3.
GRCh37:
Chr14:20511672-49111245
GRCh38:
Chr14:20043513-48642042
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, 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, 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
See casesPathogenic
(Mar 18, 2014)
no assertion criteria providedVCV000155681
4.
GRCh37:
Chr14:20511673-107285437
GRCh38:
Chr14:20043514-106877229
LINC02319, LINC02320, LINC02321, LINC02322, LINC02323, LINC02324, LINC02325, LINC02326, LINC02327, LINC02328, LINC02329, LINC02330, LINC02331, LINC02332, LINC02691, LINC02833, LINC02914, LINC03033, LOC100289511, LOC100506071, LOC100506321, LOC100506358, LOC100506499, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101928143, LOC101929718, LOC102723604, LOC105370457, LOC105370473, LOC105370489, LOC105370579, LOC105370586, LOC105370619, LOC105370622, LOC105370687, LOC105370697, LOC105370705, LOC105378183, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, LOC109433677, LOC109433679, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120910, LOC110120925, LOC110121319, LOC110121324, LOC110121325, LOC110121326, LOC110121327, LOC110121333, LOC110121354, LOC110121358, LOC110121362, LOC110121372, LOC110121376, LOC110121377, LOC110121391, LOC110121392, LOC110121404, LOC110121407, LOC110121412, LOC110121414, LOC110121422, LOC110121424, LOC110121431, LOC110121433, LOC110121447, LOC110121459, LOC110121463, LOC110121490, LOC110121504, LOC111365186, LOC111365187, LOC111365188, LOC111365217, LOC111365221, LOC111413013, LOC111413016, LOC111413041, LOC111500315, LOC111556149, LOC111591503, LOC111721711, LOC111811966, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268136, LOC112268140, LOC112268478, LOC112268479, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC112268486, LOC112272545, LOC112272546, LOC112272548, LOC112272549, LOC112272550, LOC112272551, LOC112272552, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC114827851, LOC116268458, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121468012, LOC121468013, LOC121468014, LOC121468015, LOC121468016, LOC121529649, LOC121529650, LOC121529651, LOC121529652, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC121838591, LOC121838592, LOC121838593, LOC121838594, LOC121838595, LOC121838596, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, LOC145474, LOC400212, LRFN5, LRP10, LRR1, LRRC74A, LRRC9, LTB4R, LTB4R2, LTBP2, 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, 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, TMEM251, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOMM20L-DT, TOX4, TPPP2, TRA, TRA-AGC15-1, TRAC, TRAF3, TRAJ1, TRAJ10, TRAJ11, TRAJ12, TRAJ13, TRAJ14, TRAJ15, TRAJ16, TRAJ17, TRAJ18, TRAJ19, TRAJ2, TRAJ20, TRAJ21, TRAJ22, TRAJ23, TRAJ24, TRAJ25, TRAJ26, TRAJ27, TRAJ28, TRAJ29, TRAJ3, TRAJ30, TRAJ31, TRAJ32, TRAJ33, TRAJ34, TRAJ35, TRAJ36, TRAJ37, TRAJ38, TRAJ39, TRAJ4, TRAJ40, TRAJ41, TRAJ42, TRAJ43, TRAJ44, TRAJ45, TRAJ46, TRAJ47, TRAJ48, TRAJ49, TRAJ5, TRAJ50, TRAJ52, TRAJ53, TRAJ54, TRAJ56, TRAJ57, TRAJ58, TRAJ59, TRAJ6, TRAJ61, TRAJ7, TRAJ8, TRAJ9, TRAPPC6B, TRAV1-1, TRAV1-2, TRAV10, TRAV12-1, TRAV12-2, TRAV12-3, TRAV13-1, TRAV13-2, TRAV14DV4, TRAV16, TRAV17, TRAV18, TRAV19, TRAV2, TRAV20, TRAV21, TRAV22, TRAV23DV6, TRAV24, TRAV25, TRAV26-1, TRAV26-2, TRAV27, TRAV29DV5, TRAV3, TRAV30, TRAV34, TRAV35, TRAV36DV7, TRAV38-1, TRAV38-2DV8, TRAV39, TRAV4, TRAV40, TRAV41, TRAV5, TRAV6, TRAV7, TRAV8-1, TRAV8-2, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-1, TRAV9-2, TRC-GCA8-1, TRD, 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, 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
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000155306
5.
GRCh37:
Chr14:20619308-107263478
GRCh38:
Chr14:20151149-106855263
ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTN1-DT, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP1G2-AS1, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGAP5-AS1, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BAZ1A-AS1, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, C14orf99, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC196, CCDC197, CCDC198, CCDC85C, CCDC88C, CCDC88C-DT, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CIROP, CKB, CLBA1, CLEC14A, CLMN, CMA1, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, COX8C, CPNE6, CPSF2, CRIP1, CRIP2, CTSG, CYP46A1, DAAM1, DACT1, DAD1, DCAF11, DCAF4, DCAF5, DDHD1, DDHD1-DT, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DHRS7, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DTD2, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGILA, EGLN3, EGLN3-AS1, EIF2B2, EIF2S1, EIF5, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FAM181A-AS1, FAM30A, FANCM, FBLN5, FBXO33, FBXO34, FBXO34-AS1, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLRT2-AS1, FLVCR2, FLVCR2-AS1, FNTB, FOS, FOXA1, FOXG1, FOXG1-AS1, FOXN3, FOXN3-AS1, FOXN3-AS2, FRMD6, FRMD6-AS1, FRMD6-AS2, FSCB, FUT8, FUT8-AS1, G2E3, G2E3-AS1, GALC, GALNT16, GALNT16-AS1, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HEATR5A-DT, HECTD1, HHIPL1, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, HISLA, HNRNPC, HOMEZ, HSP90AA1, HSPA2, HSPA2-AS1, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD1-1, IGHD1-14, IGHD1-20, IGHD1-26, IGHD1-7, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHD3-22, IGHD3-3, IGHD3-9, IGHD4-11, IGHD4-17, IGHD4-23, IGHD4-4, IGHD5-12, IGHD5-18, IGHD5-24, IGHD5-5, IGHD6-13, IGHD6-19, IGHD6-25, IGHD6-6, IGHD7-27, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-69-2, IGHV1-69D, IGHV2-26, IGHV2-5, IGHV2-70, IGHV2-70D, IGHV3-11, IGHV3-13, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-64D, IGHV3-66, IGHV3-7, IGHV3-72, IGHV3-73, IGHV3-74, IGHV4-28, IGHV4-30-2, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-10-1, IGHV5-51, IGHV6-1, IGHV7-4-1, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KIF26A-DT, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, KTN1-AS1, L2HGDH, L3HYPDH, LBHD2, LGALS3, LGMN, LIN52, LINC00216, LINC00221, LINC00226, LINC00239, LINC00341, LINC00517, LINC00519, LINC00520, LINC00523, LINC00524, LINC00596, LINC00605, LINC00609, LINC00618, LINC00638, LINC00639, LINC00640, LINC00641, LINC00642, LINC00643, LINC00644, LINC00645, LINC00648, LINC00677, LINC00871, LINC00911, LINC01147, LINC01148, LINC01220, LINC01269, LINC01303, LINC01467, LINC01500, LINC01550, LINC01551, LINC01588, LINC01599, LINC01629, LINC02274, LINC02280, LINC02281, LINC02282, LINC02284, LINC02285, LINC02286, LINC02287, LINC02288, LINC02289, LINC02290, LINC02291, LINC02292, LINC02293, LINC02294, LINC02295, LINC02296, LINC02298, LINC02299, LINC02300, LINC02301, LINC02302, LINC02303, LINC02304, LINC02305, LINC02307, LINC02308, LINC02309, LINC02310, LINC02311, LINC02312, LINC02313, LINC02314, LINC02315, LINC02316, LINC02317, LINC02318, LINC02319, LINC02320, LINC02321, LINC02322, LINC02323, LINC02324, LINC02325, LINC02326, LINC02327, LINC02328, LINC02329, LINC02330, LINC02331, LINC02332, LINC02691, LINC02833, LINC02914, LINC03033, LOC100289511, LOC100506071, LOC100506321, LOC100506358, LOC100506499, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101928143, LOC101929718, LOC102723604, LOC105370457, LOC105370473, LOC105370489, LOC105370579, LOC105370586, LOC105370619, LOC105370622, LOC105370687, LOC105370697, LOC105370705, LOC105378183, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, LOC109433677, LOC109433679, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120910, LOC110120925, LOC110121319, LOC110121324, LOC110121325, LOC110121326, LOC110121327, LOC110121333, LOC110121354, LOC110121358, LOC110121362, LOC110121372, LOC110121376, LOC110121377, LOC110121391, LOC110121392, LOC110121404, LOC110121407, LOC110121412, LOC110121414, LOC110121422, LOC110121424, LOC110121431, LOC110121433, LOC110121447, LOC110121459, LOC110121463, LOC110121490, LOC110121504, LOC111365186, LOC111365187, LOC111365188, LOC111365217, LOC111365221, LOC111413013, LOC111413016, LOC111413041, LOC111500315, LOC111556149, LOC111591503, LOC111721711, LOC111811966, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268136, LOC112268140, LOC112268478, LOC112268479, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC112268486, LOC112272545, LOC112272546, LOC112272548, LOC112272549, LOC112272550, LOC112272551, LOC112272552, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC114827851, LOC116268458, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121468012, LOC121468013, LOC121468014, LOC121468015, LOC121468016, LOC121529649, LOC121529650, LOC121529651, LOC121529652, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC121838591, LOC121838592, LOC121838593, LOC121838594, LOC121838595, LOC121838596, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, LOC145474, LOC400212, LRFN5, LRP10, LRR1, LRRC74A, LRRC9, LTB4R, LTB4R2, LTBP2, MAP3K9, MAP3K9-DT, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, MEG9, METTL17, METTL3, MGAT2, MHRT, MIA2, MIA2-AS1, MIDEAS, MIDEAS-AS1, MIPOL1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR208A, MIR208B, MIR2392, MIR299, MIR300, MIR3171, MIR3171HG, MIR3173, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR337, MIR342, MIR345, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR4307, MIR4307HG, MIR4308, MIR4309, MIR431, MIR432, MIR433, MIR4503, MIR4504, MIR4505, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4706, MIR4707, MIR4708, MIR4709, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR548H1, MIR548Y, MIR5580, MIR5586, MIR5694, MIR6076, MIR624, MIR625, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6717, MIR6764, MIR6765, MIR758, MIR7641-2, MIR770, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR8071-2, MIR889, MIR9718, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTA1-DT, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NRXN3, NUBPL, NUBPL-DT, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OTX2, OTX2-AS1, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPLN-AS1, PAPOLA, PAPOLA-DT, PARP2, PAX9, PCK2, PCNX1, PCNX4, PCNX4-DT, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R13B-DT, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PRKCH-AS1, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PROX2, PRPF39, PRPF39-DT, PSEN1, PSMA3, PSMA3-AS1, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, RBM25-AS1, RCOR1, RD3L, RDH11, RDH12, REC8, REM2, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SALRNA1, SAMD15, SAMD4A, SAMD4A-AS1, SAV1, SCARNA13, SCFD1, SDR39U1, SEC23A, SEC23A-AS1, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIPA1L1-AS1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC24A4, SLC25A21, SLC25A21-AS1, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNHG23, SNHG24, SNORA101B, SNORA11B, SNORA28, SNORA79, SNORA79B, SNORA89, SNORD112, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD126, SNORD127, SNORD169, SNORD3P3, SNORD56B, SNORD8, SNORD9, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SPTSSA, SRP54, SRP54-AS1, SRSF5, SSTR1, STON2, STRN3, STXBP6, STYX, SUPT16H, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYNJ2BP-COX16, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEP1, TEX22, TGFB3, TGM1, THTPA, TIMM9, TINF2, TM9SF1, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM251, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOMM20L-DT, TOX4, TPPP2, TRA, TRA-AGC15-1, TRAC, TRAF3, TRAJ1, TRAJ10, TRAJ11, TRAJ12, TRAJ13, TRAJ14, TRAJ15, TRAJ16, TRAJ17, TRAJ18, TRAJ19, TRAJ2, TRAJ20, TRAJ21, TRAJ22, TRAJ23, TRAJ24, TRAJ25, TRAJ26, TRAJ27, TRAJ28, TRAJ29, TRAJ3, TRAJ30, TRAJ31, TRAJ32, TRAJ33, TRAJ34, TRAJ35, TRAJ36, TRAJ37, TRAJ38, TRAJ39, TRAJ4, TRAJ40, TRAJ41, TRAJ42, TRAJ43, TRAJ44, TRAJ45, TRAJ46, TRAJ47, TRAJ48, TRAJ49, TRAJ5, TRAJ50, TRAJ52, TRAJ53, TRAJ54, TRAJ56, TRAJ57, TRAJ58, TRAJ59, TRAJ6, TRAJ61, TRAJ7, TRAJ8, TRAJ9, TRAPPC6B, TRAV1-1, TRAV1-2, TRAV10, TRAV12-1, TRAV12-2, TRAV12-3, TRAV13-1, TRAV13-2, TRAV14DV4, TRAV16, TRAV17, TRAV18, TRAV19, TRAV2, TRAV20, TRAV21, TRAV22, TRAV23DV6, TRAV24, TRAV25, TRAV26-1, TRAV26-2, TRAV27, TRAV29DV5, TRAV3, TRAV30, TRAV34, TRAV35, TRAV36DV7, TRAV38-1, TRAV38-2DV8, TRAV39, TRAV4, TRAV40, TRAV41, TRAV5, TRAV6, TRAV7, TRAV8-1, TRAV8-2, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-1, TRAV9-2, TRC-GCA8-1, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRI-AAT5-4, TRIM9, TRIP11, TRK-CTT1-1, TRL-AAG2-3, TRL-TAG2-1, TRMT5, TRMT61A, TRP-AGG2-5, TRP-AGG2-6, TRP-TGG1-1, TRP-TGG3-2, TRR-ACG1-3, TRT-TGT3-1, TRT-TGT4-1, TRT-TGT5-1, TRY-GTA4-1, TRY-GTA5-3, TRY-GTA5-4, TRY-GTA5-5, TRY-GTA7-1, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC7B-AS1, TTC8, TTC9, TTC9-DT, TTLL5, TUNAR, TXNDC16, UBR7, UNC79, VASH1, VASH1-AS1, VCPKMT, VIPAS39, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839
See casesPathogenic
(Jan 14, 2011)
no assertion criteria providedVCV000146230
6.
GRCh37:
Chr14:20619308-23911404
GRCh38:
Chr14:20151149-23442195
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, 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, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057246
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, 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, 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 submitterVCV000057745
8.
GRCh37:
Chr14:20880746-25487326
GRCh38:
Chr14:20412587-25018120
EDDM3B, EFS, EGILA, EMC9, FITM1, GMPR2, GZMB, GZMH, HAUS4, HNRNPC, HOMEZ, IL25, IPO4, IRF9, JPH4, KHNYN, KLHL33, LINC00596, LINC00641, LINC02332, LOC101927045, LOC101929718, LOC105370705, LOC106799836, LOC107372315, LOC107882126, LOC110121424, LOC110121433, LOC110121504, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC114827851, LOC121468008, LOC121468009, LOC121468010, LOC121838585, LOC121838586, LOC121838587, LRP10, LTB4R, LTB4R2, MDP1, METTL17, METTL3, MHRT, MIR208A, MIR208B, MIR4707, MIR6717, MIR7703, MMP14, MRPL52, MYH6, MYH7, NDRG2, NEDD8, NEDD8-MDP1, NFATC4, NGDN, NOP9, NRL, NYNRIN, OR10G2, OR10G3, OR4E1, OR4E2, OR5AU1, OR6J1, OR6S1, OSGEP, OXA1L, PABPN1, PCK2, PIP4P1, PNP, PPP1R3E, PRMT5, PRMT5-AS1, PRMT5-DT, PSMB11, PSMB5, PSME1, PSME2, RAB2B, RABGGTA, RBM23, REC8, REM2, RIPK3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RPGRIP1, SALL2, SDR39U1, SLC22A17, SLC39A2, SLC7A7, SLC7A8, SNORD8, SNORD9, 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, ZFHX2, ZNF219, ABHD4, ACIN1, ADCY4, AJUBA, ANG, AP1G2, AP1G2-AS1, APEX1, ARHGEF40, BCL2L2, BCL2L2-PABPN1, C14orf119, C14orf93, CARMIL3, CBLN3, CDH24, CEBPE, CHD8, CHMP4A, CIDEB, CIROP, CMA1, CMTM5, CPNE6, CTSG, DAD1, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, EDDM3A
See casesLikely pathogenic
(Aug 29, 2011)
no assertion criteria providedVCV000148657
9.
GRCh37:
Chr14:23730012-24232730
GRCh38:
Chr14:23260803-23763521
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000058306
10.
GRCh37:
Chr14:23851241
GRCh38:
Chr14:23382032
MYH6not specifiedBenign/Likely benign
(Oct 23, 2017)
criteria provided, multiple submitters, no conflictsVCV000177988
11.
GRCh37:
Chr14:23851258
GRCh38:
Chr14:23382049
MYH6not providedLikely benign
(Dec 5, 2018)
criteria provided, single submitterVCV000703084
12.
GRCh37:
Chr14:23851260
GRCh38:
Chr14:23382051
MYH6D1937Nnot provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
Uncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflictsVCV000239180
13.
GRCh37:
Chr14:23851264
GRCh38:
Chr14:23382055
MYH6M1935IHypertrophic cardiomyopathy 14Uncertain significance
(Aug 24, 2021)
criteria provided, single submitterVCV000955979
14.
GRCh37:
Chr14:23851265
GRCh38:
Chr14:23382056
MYH6M1935THypertrophic cardiomyopathy 14Uncertain significance
(Sep 24, 2021)
criteria provided, single submitterVCV001426625
15.
GRCh37:
Chr14:23851273
GRCh38:
Chr14:23382064
MYH6not providedPathogeniccriteria provided, single submitterVCV000992854
16.
GRCh37:
Chr14:23851274
GRCh38:
Chr14:23382065
MYH6Hypertrophic cardiomyopathy 14Uncertain significance
(Aug 27, 2021)
criteria provided, single submitterVCV001016822
17.
GRCh37:
Chr14:23851276
GRCh38:
Chr14:23382067
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Aug 29, 2020)
criteria provided, single submitterVCV001118954
18.
GRCh37:
Chr14:23851637
GRCh38:
Chr14:23382428
MYH6AV Block Third Degree Adverse EventUncertain significance
(May 13, 2014)
no assertion criteria providedVCV000180429
19.
GRCh37:
Chr14:23851639
GRCh38:
Chr14:23382430
MYH6K1932*Hypertrophic cardiomyopathy 14Uncertain significance
(Aug 12, 2021)
criteria provided, single submitterVCV000566642
20.
GRCh37:
Chr14:23851645
GRCh38:
Chr14:23382436
MYH6G1930SHypertrophic cardiomyopathy 14Uncertain significance
(Aug 31, 2021)
criteria provided, single submitterVCV001389860
21.
GRCh37:
Chr14:23851645
GRCh38:
Chr14:23382436
MYH6G1930Rnot providedUncertain significance
(Nov 23, 2021)
criteria provided, single submitterVCV001327358
22.
GRCh37:
Chr14:23851648
GRCh38:
Chr14:23382439
MYH6I1929VHypertrophic cardiomyopathy 14Uncertain significance
(Sep 1, 2021)
criteria provided, single submitterVCV001038585
23.
GRCh37:
Chr14:23851653
GRCh38:
Chr14:23382444
MYH6R1927HHypertrophic cardiomyopathy 14Uncertain significance
(Aug 24, 2021)
criteria provided, single submitterVCV000470551
24.
GRCh37:
Chr14:23851653
GRCh38:
Chr14:23382444
MYH6R1927LPrimary familial hypertrophic cardiomyopathyUncertain significance
(Dec 10, 2014)
no assertion criteria providedVCV000180428
25.
GRCh37:
Chr14:23851654
GRCh38:
Chr14:23382445
MYH6R1927CHypertrophic cardiomyopathy 14Uncertain significance
(Aug 30, 2021)
criteria provided, single submitterVCV000646238
26.
GRCh37:
Chr14:23851666
GRCh38:
Chr14:23382457
MYH6R1923*Cardiovascular phenotype, Hypertrophic cardiomyopathy 14Uncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflictsVCV000264622
27.
GRCh37:
Chr14:23851674
GRCh38:
Chr14:23382465
MYH6N1920SHypertrophic cardiomyopathy 14Uncertain significance
(Dec 17, 2021)
criteria provided, single submitterVCV001524001
28.
GRCh37:
Chr14:23851685
GRCh38:
Chr14:23382476
MYH6E1916DCardiomyopathyUncertain significance
(Oct 22, 2015)
criteria provided, single submitterVCV000626532
29.
GRCh37:
Chr14:23851691
GRCh38:
Chr14:23382482
MYH6not provided, Hypertrophic cardiomyopathy 14Likely benign
(Oct 28, 2021)
criteria provided, multiple submitters, no conflictsVCV000807069
30.
GRCh37:
Chr14:23851696
GRCh38:
Chr14:23382487
MYH6D1913NHypertrophic cardiomyopathy 14Uncertain significance
(Nov 27, 2017)
criteria provided, single submitterVCV000520406
31.
GRCh37:
Chr14:23851697
GRCh38:
Chr14:23382488
MYH6not providedLikely benign
(May 25, 2018)
criteria provided, single submitterVCV000699740
32.
GRCh37:
Chr14:23851698
GRCh38:
Chr14:23382489
MYH6A1912Vnot specified, Hypertrophic cardiomyopathy 14Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000179021
33.
GRCh37:
Chr14:23851701
GRCh38:
Chr14:23382492
MYH6R1911QHypertrophic cardiomyopathy 14Uncertain significance
(Aug 30, 2021)
criteria provided, single submitterVCV001524093
34.
GRCh37:
Chr14:23851703
GRCh38:
Chr14:23382494
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Aug 6, 2020)
criteria provided, single submitterVCV001135237
35.
GRCh37:
Chr14:23851719
GRCh38:
Chr14:23382510
MYH6L1905Pnot providedUncertain significance
(Feb 4, 2020)
criteria provided, single submitterVCV001315174
36.
GRCh37:
Chr14:23851723
GRCh38:
Chr14:23382514
MYH6E1904QHypertrophic cardiomyopathy 14Uncertain significance
(Aug 27, 2021)
criteria provided, single submitterVCV000961717
37.
GRCh37:
Chr14:23851723
GRCh38:
Chr14:23382514
MYH6E1904Knot providedUncertain significance
(Dec 9, 2016)
criteria provided, single submitterVCV000373756
38.
GRCh37:
Chr14:23851733
GRCh38:
Chr14:23382524
MYH6K1900Nnot specifiedUncertain significance
(May 31, 2012)
criteria provided, single submitterVCV000044540
39.
GRCh37:
Chr14:23851737
GRCh38:
Chr14:23382528
MYH6R1899Hnot provided, Hypertrophic cardiomyopathy 14Uncertain significance
(Dec 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000392233
40.
GRCh37:
Chr14:23851738
GRCh38:
Chr14:23382529
MYH6R1899CHypertrophic cardiomyopathy 14Uncertain significance
(Aug 24, 2021)
criteria provided, single submitterVCV000647390
41.
GRCh37:
Chr14:23851739
GRCh38:
Chr14:23382530
MYH6F1898Lnot providedUncertain significanceno assertion criteria providedVCV001284386
42.
GRCh37:
Chr14:23851739
GRCh38:
Chr14:23382530
MYH6F1898LHypertrophic cardiomyopathy 14, not providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitterVCV000537945
43.
GRCh37:
Chr14:23851741
GRCh38:
Chr14:23382532
MYH6F1898LHypertrophic cardiomyopathy 14Uncertain significance
(Sep 1, 2021)
criteria provided, single submitterVCV000839642
44.
GRCh37:
Chr14:23851741
GRCh38:
Chr14:23382532
MYH6F1898VCardiovascular phenotypeUncertain significance
(Apr 22, 2020)
criteria provided, single submitterVCV000263719
45.
GRCh37:
Chr14:23851743
GRCh38:
Chr14:23382534
MYH6K1897RHypertrophic cardiomyopathy 14Uncertain significance
(Sep 24, 2021)
criteria provided, single submitterVCV001360781
46.
GRCh37:
Chr14:23851746
GRCh38:
Chr14:23382537
MYH6S1896FHypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 14Uncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflictsVCV000810746
47.
GRCh37:
Chr14:23851771
GRCh38:
Chr14:23382562
MYH6E1888KHypertrophic cardiomyopathy 14Uncertain significance
(Aug 31, 2021)
criteria provided, single submitterVCV000640276
48.
GRCh37:
Chr14:23851773
GRCh38:
Chr14:23382564
MYH6not providedUncertain significance
(Jan 9, 2022)
criteria provided, single submitterVCV001677799
49.
GRCh37:
Chr14:23851777
GRCh38:
Chr14:23382568
MYH6not specified, not provided, Hypertrophic cardiomyopathy 14
Conflicting interpretations of pathogenicity
(Apr 12, 2021)
criteria provided, conflicting interpretationsVCV000044538
50.
GRCh37:
Chr14:23852425
GRCh38:
Chr14:23383216
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Oct 21, 2021)
criteria provided, single submitterVCV000414327
51.
GRCh37:
Chr14:23852434
GRCh38:
Chr14:23383225
MYH6Hypertrophic cardiomyopathy 14, not providedUncertain significance
(Sep 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000578698
52.
GRCh37:
Chr14:23852435
GRCh38:
Chr14:23383226
MYH6A1887Vnot specified, not provided, Cardiovascular phenotype
Uncertain significance
(Nov 9, 2021)
criteria provided, multiple submitters, no conflictsVCV000520363
53.
GRCh37:
Chr14:23852439
GRCh38:
Chr14:23383230
MYH6E1886KHypertrophic cardiomyopathy 14Uncertain significance
(Aug 31, 2021)
criteria provided, single submitterVCV000642093
54.
GRCh37:
Chr14:23852442
GRCh38:
Chr14:23383233
MYH6E1885KHypertrophic cardiomyopathy 14, not specified, not provided
Uncertain significance
(Aug 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000537966
55.
GRCh37:
Chr14:23852443
GRCh38:
Chr14:23383234
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Nov 3, 2020)
criteria provided, single submitterVCV001647794
56.
GRCh37:
Chr14:23852443
GRCh38:
Chr14:23383234
MYH6Cardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 14
Conflicting interpretations of pathogenicity
(Nov 24, 2021)
criteria provided, conflicting interpretationsVCV000312839
57.
GRCh37:
Chr14:23852450
GRCh38:
Chr14:23383241
MYH6R1882Hnot provided, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 14
Uncertain significance
(Sep 29, 2021)
criteria provided, multiple submitters, no conflictsVCV000978747
58.
GRCh37:
Chr14:23852452
GRCh38:
Chr14:23383243
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Oct 12, 2019)
criteria provided, single submitterVCV001146013
59.
GRCh37:
Chr14:23852453
GRCh38:
Chr14:23383244
MYH6K1881Rnot provided, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 14
Conflicting interpretations of pathogenicity
(Nov 29, 2021)
criteria provided, conflicting interpretationsVCV000496160
60.
GRCh37:
Chr14:23852460
GRCh38:
Chr14:23383251
MYH6A1879TCardiovascular phenotypeUncertain significance
(Nov 9, 2016)
criteria provided, single submitterVCV000519136
61.
GRCh37:
Chr14:23852467
GRCh38:
Chr14:23383258
MYH6K1876NHypertrophic cardiomyopathy 14Uncertain significance
(Aug 26, 2021)
criteria provided, single submitterVCV001414226
62.
GRCh37:
Chr14:23852468
GRCh38:
Chr14:23383259
MYH6K1876RHypertrophic cardiomyopathy 14, not providedUncertain significance
(Nov 9, 2021)
criteria provided, multiple submitters, no conflictsVCV000582103
63.
GRCh37:
Chr14:23852472
GRCh38:
Chr14:23383263
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Mar 23, 2021)
criteria provided, single submitterVCV001572660
64.
GRCh37:
Chr14:23852494
GRCh38:
Chr14:23383285
MYH6Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, not provided
Benign/Likely benign
(Dec 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000263989
65.
GRCh37:
Chr14:23852497
GRCh38:
Chr14:23383288
MYH6Hypertrophic cardiomyopathy 14, not specified, Cardiovascular phenotype
Benign
(Dec 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000258715
66.
GRCh37:
Chr14:23852501
GRCh38:
Chr14:23383292
MYH6R1865QHypertrophic cardiomyopathy 14, Primary familial hypertrophic cardiomyopathyUncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflictsVCV000520531
67.
GRCh37:
Chr14:23852502
GRCh38:
Chr14:23383293
MYH6R1865WHypertrophic cardiomyopathy 14, not providedUncertain significance
(Aug 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000684811
68.
GRCh37:
Chr14:23852506
GRCh38:
Chr14:23383297
MYH6Hypertrophic cardiomyopathy 14Likely benign
(May 3, 2019)
criteria provided, single submitterVCV001121765
69.
GRCh37:
Chr14:23852508
GRCh38:
Chr14:23383299
MYH6not providedLikely benign
(Feb 12, 2020)
criteria provided, single submitterVCV001218642
70.
GRCh37:
Chr14:23852520
GRCh38:
Chr14:23383311
MYH6D1859NHypertrophic cardiomyopathy 14, not providedUncertain significance
(Feb 25, 2022)
criteria provided, multiple submitters, no conflictsVCV000470550
71.
GRCh37:
Chr14:23852531
GRCh38:
Chr14:23383322
MYH6CardiomyopathyBenign
(Apr 16, 2020)
criteria provided, single submitterVCV001329250
72.
GRCh37:
Chr14:23852534
GRCh38:
Chr14:23383325
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Dec 22, 2020)
criteria provided, single submitterVCV001664402
73.
GRCh37:
Chr14:23852536
GRCh38:
Chr14:23383327
MYH6not provided, Hypertrophic cardiomyopathy 14Likely benign
(Sep 17, 2021)
criteria provided, multiple submitters, no conflictsVCV000312841
74.
GRCh37:
Chr14:23852537
GRCh38:
Chr14:23383328
MYH6CardiomyopathyBenign
(Aug 9, 2019)
criteria provided, single submitterVCV001329251
75.
GRCh37:
Chr14:23852538
GRCh38:
Chr14:23383329
MYH6not providedUncertain significance
(Sep 22, 2016)
criteria provided, single submitterVCV000496159
76.
GRCh37:
Chr14:23852541
GRCh38:
Chr14:23383332
MYH6not specifiedBenignno assertion criteria providedVCV001284868
77.
GRCh37:
Chr14:23852545
GRCh38:
Chr14:23383336
MYH6not specifiedUncertain significance
(Sep 20, 2019)
criteria provided, single submitterVCV000929190
78.
GRCh37:
Chr14:23852545-23852546
GRCh38:
Chr14:23383336-23383337
MYH6not specifiedBenign
(Sep 2, 2019)
criteria provided, single submitterVCV000928477
79.
GRCh37:
Chr14:23853629
GRCh38:
Chr14:23384420
MYH6not specifiedBenigncriteria provided, single submitterVCV000258714
80.
GRCh37:
Chr14:23853640
GRCh38:
Chr14:23384431
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Nov 5, 2021)
criteria provided, single submitterVCV001612911
81.
GRCh37:
Chr14:23853643
GRCh38:
Chr14:23384434
MYH6Hypertrophic cardiomyopathy 14, not specifiedBenign/Likely benign
(Oct 28, 2021)
criteria provided, multiple submitters, no conflictsVCV001142240
82.
GRCh37:
Chr14:23853643-23853644
GRCh38:
Chr14:23384434-23384435
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Oct 10, 2021)
criteria provided, single submitterVCV000470549
83.
GRCh37:
Chr14:23853644
GRCh38:
Chr14:23384435
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Aug 7, 2021)
criteria provided, single submitterVCV001607841
84.
GRCh37:
Chr14:23853663
GRCh38:
Chr14:23384454
MYH6Hypertrophic cardiomyopathy 14, not providedLikely benign
(Dec 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000470548
85.
GRCh37:
Chr14:23853672
GRCh38:
Chr14:23384463
MYH6Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 14
Likely benign
(Dec 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000518952
86.
GRCh37:
Chr14:23853674
GRCh38:
Chr14:23384465
MYH6R1848CCardiovascular phenotype, Hypertrophic cardiomyopathy 14Uncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflictsVCV000518955
87.
GRCh37:
Chr14:23853676
GRCh38:
Chr14:23384467
MYH6R1847QHypertrophic cardiomyopathy 14, Cardiovascular phenotypeUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000264189
88.
GRCh37:
Chr14:23853677
GRCh38:
Chr14:23384468
MYH6R1847Wnot providedUncertain significance
(Mar 1, 2019)
criteria provided, single submitterVCV000807070
89.
GRCh37:
Chr14:23853677
GRCh38:
Chr14:23384468
MYH6R1847GHypertrophic cardiomyopathy 14Uncertain significance
(Aug 24, 2021)
criteria provided, single submitterVCV000660316
90.
GRCh37:
Chr14:23853691-23853703
GRCh38:
Chr14:23384482-23384494
MYH6not providedUncertain significance
(Jan 5, 2022)
criteria provided, single submitterVCV001677461
91.
GRCh37:
Chr14:23853692
GRCh38:
Chr14:23384483
MYH6M1842VHypertrophic cardiomyopathy 14Uncertain significance
(Aug 27, 2021)
criteria provided, single submitterVCV001403605
92.
GRCh37:
Chr14:23853692
GRCh38:
Chr14:23384483
MYH6M1842LHypertrophic cardiomyopathy 14Uncertain significance
(Aug 28, 2021)
criteria provided, single submitterVCV000568361
93.
GRCh37:
Chr14:23853697
GRCh38:
Chr14:23384488
MYH6K1840RCardiovascular phenotype, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE,
not provided, Left ventricular noncompaction 1
Uncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000264214
94.
GRCh37:
Chr14:23853701
GRCh38:
Chr14:23384492
MYH6V1839LHypertrophic cardiomyopathy 14Uncertain significance
(Dec 5, 2018)
criteria provided, single submitterVCV000664307
95.
GRCh37:
Chr14:23853702
GRCh38:
Chr14:23384493
MYH6Cardiomyopathy, Hypertrophic cardiomyopathy 14, not provided,
not specified
Likely benign
(Nov 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000164212
96.
GRCh37:
Chr14:23853703
GRCh38:
Chr14:23384494
MYH6S1838Wnot specified, not providedUncertain significance
(Mar 15, 2021)
criteria provided, multiple submitters, no conflictsVCV001027640
97.
GRCh37:
Chr14:23853703
GRCh38:
Chr14:23384494
MYH6S1838LHypertrophic cardiomyopathy 14, not providedUncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflictsVCV000470547
98.
GRCh37:
Chr14:23853708
GRCh38:
Chr14:23384499
MYH6CardiomyopathyLikely benign
(Aug 18, 2011)
criteria provided, single submitterVCV000036633
99.
GRCh37:
Chr14:23853711
GRCh38:
Chr14:23384502
MYH6not provided, Hypertrophic cardiomyopathy 14Likely benign
(Dec 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000512708
100.
GRCh37:
Chr14:23853715
GRCh38:
Chr14:23384506
MYH6R1834HHypertrophic cardiomyopathy 14Uncertain significance
(Sep 9, 2020)
criteria provided, single submitterVCV000848866
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