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Did you mean CHD4 as a gene symbol? Search ClinVar for CHD4

See CHD4 chromodomain helicase DNA binding protein 4 in the Gene database

Search results

Items: 1 to 100 of 258

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh38:
Chr12:1-9000000
LOC107436002, CLEC6A, TEX52, NTF3, LOC112163625, GPR162, KDM5A, LOC112163604, SCNN1A, LOC105369595, LOC121832825, USP5, CCND2, FAM90A1, ZNF384, RBP5, CACNA2D4, DPPA3, LOC112163597, SLC6A12, SLC6A13, LOC121392956, LOC100128253, RIMKLB, TSPAN9, LOC120807612, PTMS, A2ML1, LOC100507424, LOC112163621, LOC121466690, CACNA1C-IT2, LINC02417, LOC108942766, ENO2, ITFG2, KCNA6, GDF3, THCAT155, TAPBPL, ATN1, CD27-AS1, LOC116268428, WNT5B, RNU7-1, LOC112163626, LOC121403743, FAM66C, LOC121392955, C1RL-AS1, LOC116268431, C12orf4, GAU1, LINC02972, LOC113939935, LOC121832826, LTBR, SCARNA10, WNK1, FAM138D, NECAP1, CACNA1C-AS1, LAG3, NCAPD2, LOC105369632, CD163, SCARNA12, LOC112163620, KCNA1, CACNA1C-AS2, LOC108178987, APOBEC1, ERC1, MLF2, CACNA1C, MIR3649, LINC02455, FGF23, C1S, NRIP2, SLC6A12-AS1, LINC02827, AICDA, LOC107984507, ADIPOR2, LPCAT3, LRRC23, NDUFA9, COPS7A, CCND2-AS1, LOC116268430, C1R, LOC112163552, CACNA1C-IT1, LOC112163622, CLSTN3, PTPN6, PHC1, CACNA1C-IT3, TULP3, CD163L1, KLRG1, IQSEC3, SLC2A3, CD9, LOC107832854, NANOG, GAPDH, NOP2, MIR200C, VAMP1, PHB2, LINC00942, FGF6, TIGAR, FOXM1, LOC108178986, LOC121403744, FBXL14, ING4, LRTM2, DCP1B, NINJ2, LPAR5, LINC00940, AKAP3, IFFO1, M6PR, DYRK4, KCNA5, TEAD4, FOXJ2, SNORA120, LOC116268426, PARP11-AS1, B4GALNT3, LOC116268425, LOC109461484, LOC112136100, IQSEC3-AS1, ZNF705A, CRACR2A, SCARNA11, LINC00937, FKBP4, CD27, CHD4, MFAP5, LOC112163630, TPI1, VWF, SPSB2, RHNO1, ITFG2-AS1, MIR141, PEX5, GALNT8, LOC112163623, CD4, GNB3, CLEC4A, EMG1, LINC02443, CLEC4C, ACSM4, NINJ2-AS1, C1RL, SLC2A14, NANOGNB, LINC02449, LOC116268429, CDCA3, LOC106799839, ANO2, CACNA1C-AS4, PARP11, CLEC4E, TNFRSF1A, C12orf57, ACRBP, P3H3, CLEC4D, RAD51AP1, LOC116268427, MRPL51, PIANP, LOC574538, C3AR1, LOC107832852, LOC102723544, LOC121466689, RAD52, PLEKHG6, MIR200CHG, PRMT8, CCDC77
Tumoral calcinosis, hyperphosphatemic, familial, 1Pathogenic
(Jun 26, 2017)
no assertion criteria providedVCV000619591
2.
GRCh37:
Chr12:147099-7054359
GRCh38:
Chr12:45740-6945196
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000146024
3.
GRCh37:
Chr12:282465-34761006
GRCh38:
Chr12:54427-34608071
A2M, A2M-AS1, A2ML1, ABCC9, ACRBP, ACSM4, ADIPOR2, AEBP2, AICDA, AKAP3, ALG10, AMN1, ANO2, APOBEC1, APOLD1, ARHGDIB, ARNTL2, ARNTL2-AS1, ART4, ATF7IP, ATN1, B4GALNT3, BCAT1, BCL2L14, BHLHE41, BICD1, BORCS5, C12orf4, C12orf57, C12orf60, C12orf71, C1R, C1RL, C1RL-AS1, C1S, C2CD5, C3AR1, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CAPRIN2, CAPZA3, CCDC77, CCDC91, CCND2, CCND2-AS1, CD163, CD163L1, CD27, CD27-AS1, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLSTN3, CMAS, COPS7A, CRACR2A, CREBL2, DCP1B, DDX11, DDX11-AS1, DDX47, DENND5B, DENND5B-AS1, DERA, DNAI7, DNM1L, DPPA3, DUSP16, DYRK4, EIF2S3B, EMG1, EMP1, ENO2, EPS8, ERC1, ERGIC2, ERP27, ETFBKMT, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAM234B, FAM66C, FAM90A1, FAR2, FBXL14, FGD4, FGF23, FGF6, FGFR1OP2, FKBP4, FLJ13224, FOXJ2, FOXM1, GABARAPL1, GABARAPL1-AS1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GOLT1B, GPR162, GPR19, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GSG1, GUCY2C, GYS2, H2AJ, H3-5, H4-16, HEBP1, IAPP, IFFO1, ING4, INTS13, IPO8, IQSEC3, IQSEC3-AS1, IRAG2, ITFG2, ITFG2-AS1, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KDM5A, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KRAS, LAG3, LDHB, LINC00477, LINC00612, LINC00937, LINC00940, LINC00941, LINC00942, LINC00987, LINC01252, LINC01489, LINC01559, LINC02366, LINC02367, LINC02378, LINC02386, LINC02387, LINC02398, LINC02417, LINC02422, LINC02443, LINC02446, LINC02449, LINC02455, LINC02468, LINC02470, LINC02598, LINC02617, LINC02827, LINC02909, LINC02955, LINC02972, LMNTD1, LMO3, LOC100128253, LOC100506606, LOC100507424, LOC101928030, LOC101928441, LOC102723544, LOC102724020, LOC105369595, LOC105369632, LOC105369728, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108942766, LOC109461484, LOC110120854, LOC110120899, LOC110120906, LOC110120907, LOC110120918, LOC110120934, LOC110120948, LOC110120955, LOC110120956, LOC110121389, LOC110121408, LOC110121489, LOC111365179, LOC111501779, LOC112136100, LOC112136106, LOC112163543, LOC112163544, LOC112163545, LOC112163548, LOC112163549, LOC112163550, LOC112163551, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939932, LOC113939935, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC116268436, LOC116268437, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121466693, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC121832829, LOC121832830, LOC121832831, LOC440084, LOC574538, LOC642846, LOC645177, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRP6, LRRC23, LRTM2, LTBR, M6PR, MAGOHB, MANSC1, MANSC4, MED21, MFAP5, MGP, MGST1, MIR1244-3, MIR1244-4, MIR141, MIR200C, MIR200CHG, MIR3649, MIR3974, MIR4302, MIR613, MIR614, MIR920, MLF2, MRPL51, MRPS35, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NINJ2-AS1, NOP2, NRIP2, NTF3, OLR1, OVCH1, OVCH1-AS1, P3H3, PARP11, PARP11-AS1, PDE3A, PDE6H, PEX5, PHB2, PHC1, PIANP, PIK3C2G, PKP2, PLBD1, PLBD1-AS1, PLCZ1, PLEKHA5, PLEKHG6, PPFIBP1, PRB1, PRB2, PRB3, PRB4, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRMT8, PRR4, PTHLH, PTMS, PTPN6, PTPRO, PYROXD1, PZP, RAD51AP1, RAD52, RASSF8, RASSF8-AS1, RBP5, RECQL, REP15, RERG, RERG-AS1, RERGL, RESF1, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SINHCAF, SLC15A5, SLC2A14, SLC2A3, SLC6A12, SLC6A12-AS1, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SMIM10L1, SNORA120, SOX5, SOX5-AS1, SPSB2, SPX, SSPN, ST8SIA1, STK38L, STRAP, STYK1, SYT10, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, TEX52, THCAT155, TIGAR, TM7SF3, TMEM52B, TMTC1, TNFRSF1A, TPI1, TSPAN11, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, WNK1, WNT5B, YARS2, YBX3, ZNF384, ZNF705A
See casesPathogenic
(Jul 16, 2012)
no assertion criteria providedVCV000151004
4.
GRCh37:
Chr12:173786-34835837
GRCh38:
Chr12:64620-34682902
A2M, A2M-AS1, A2ML1, ABCC9, ACRBP, ACSM4, ADIPOR2, AEBP2, AICDA, AKAP3, ALG10, AMN1, ANO2, APOBEC1, APOLD1, ARHGDIB, ARNTL2, ARNTL2-AS1, ART4, ATF7IP, ATN1, B4GALNT3, BCAT1, BCL2L14, BHLHE41, BICD1, BORCS5, C12orf4, C12orf57, C12orf60, C12orf71, C1R, C1RL, C1RL-AS1, C1S, C2CD5, C3AR1, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CAPRIN2, CAPZA3, CCDC77, CCDC91, CCND2, CCND2-AS1, CD163, CD163L1, CD27, CD27-AS1, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLECL1, CLEC6A, CLEC7A, CLEC9A, CLSTN3, CMAS, COPS7A, CRACR2A, CREBL2, DCP1B, DDX11, DDX11-AS1, DDX47, DENND5B, DENND5B-AS1, DERA, DNAI7, DNM1L, DPPA3, DUSP16, DYRK4, EIF2S3B, EMG1, EMP1, ENO2, EPS8, ERC1, ERGIC2, ERP27, ETFBKMT, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAM234B, FAM66C, FAM90A1, FAR2, FBXL14, FGD4, FGF23, FGF6, FGFR1OP2, FKBP4, FLJ13224, FOXJ2, FOXM1, GABARAPL1, GABARAPL1-AS1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GOLT1B, GPR162, GPR19, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GSG1, GUCY2C, GYS2, H2AJ, H3-5, H4-16, HEBP1, IAPP, IFFO1, ING4, INTS13, IPO8, IQSEC3, IQSEC3-AS1, IRAG2, ITFG2, ITFG2-AS1, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KDM5A, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KRAS, LAG3, LDHB, LINC00477, LINC00612, LINC00937, LINC00940, LINC00941, LINC00942, LINC00987, LINC01252, LINC01489, LINC01559, LINC02366, LINC02367, LINC02378, LINC02386, LINC02387, LINC02398, LINC02417, LINC02422, LINC02443, LINC02446, LINC02449, LINC02455, LINC02468, LINC02470, LINC02598, LINC02617, LINC02827, LINC02909, LINC02955, LINC02972, LMNTD1, LMO3, LOC100128253, LOC100506606, LOC100507424, LOC101928030, LOC101928441, LOC102723544, LOC102724020, LOC105369595, LOC105369632, LOC105369728, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108942766, LOC109461484, LOC110120854, LOC110120899, LOC110120906, LOC110120907, LOC110120918, LOC110120934, LOC110120948, LOC110120955, LOC110120956, LOC110121389, LOC110121408, LOC110121489, LOC111365179, LOC111501779, LOC112136100, LOC112136106, LOC112163543, LOC112163544, LOC112163545, LOC112163548, LOC112163549, LOC112163550, LOC112163551, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939932, LOC113939935, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC116268436, LOC116268437, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121466693, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC121832829, LOC121832830, LOC121832831, LOC440084, LOC574538, LOC642846, LOC645177, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRP6, LRRC23, LRTM2, LTBR, M6PR, MAGOHB, MANSC1, MANSC4, MED21, MFAP5, MGP, MGST1, MIR1244-3, MIR1244-4, MIR141, MIR200C, MIR200CHG, MIR3649, MIR3974, MIR4302, MIR613, MIR614, MIR920, MLF2, MRPL51, MRPS35, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NINJ2-AS1, NOP2, NRIP2, NTF3, OLR1, OVCH1, OVCH1-AS1, P3H3, PARP11, PARP11-AS1, PDE3A, PDE6H, PEX5, PHB2, PHC1, PIANP, PIK3C2G, PKP2, PLBD1, PLBD1-AS1, PLCZ1, PLEKHA5, PLEKHG6, PPFIBP1, PRB1, PRB2, PRB3, PRB4, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRMT8, PRR4, PTHLH, PTMS, PTPN6, PTPRO, PYROXD1, PZP, RAD51AP1, RAD52, RASSF8, RASSF8-AS1, RBP5, RECQL, REP15, RERG, RERG-AS1, RERGL, RESF1, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SINHCAF, SLC15A5, SLC2A14, SLC2A3, SLC6A12, SLC6A12-AS1, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SMIM10L1, SNORA120, SOX5, SOX5-AS1, SPSB2, SPX, SSPN, ST8SIA1, STK38L, STRAP, STYK1, SYT10, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, TEX52, THCAT155, TIGAR, TM7SF3, TMEM52B, TMTC1, TNFRSF1A, TPI1, TSPAN11, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, WNK1, WNT5B, YARS2, YBX3, ZNF384, ZNF705A
See casesPathogenic
(Oct 22, 2013)
no assertion criteria providedVCV000153962
5.
GRCh37:
Chr12:282465-34533111
GRCh38:
Chr12:77187-34380176
A2M, A2M-AS1, A2ML1, ABCC9, ACRBP, ACSM4, ADIPOR2, AEBP2, AICDA, AKAP3, ALG10, AMN1, ANO2, APOBEC1, APOLD1, ARHGDIB, ARNTL2, ARNTL2-AS1, ART4, ATF7IP, ATN1, B4GALNT3, BCAT1, BCL2L14, BHLHE41, BICD1, BORCS5, C12orf4, C12orf57, C12orf60, C12orf71, C1R, C1RL, C1RL-AS1, C1S, C2CD5, C3AR1, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CAPRIN2, CAPZA3, CCDC77, CCDC91, CCND2, CCND2-AS1, CD163, CD163L1, CD27, CD27-AS1, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLSTN3, CMAS, COPS7A, CRACR2A, CREBL2, DCP1B, DDX11, DDX11-AS1, DDX47, DENND5B, DENND5B-AS1, DERA, DNAI7, DNM1L, DPPA3, DUSP16, DYRK4, EIF2S3B, EMG1, EMP1, ENO2, EPS8, ERC1, ERGIC2, ERP27, ETFBKMT, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAM234B, FAM66C, FAM90A1, FAR2, FBXL14, FGD4, FGF23, FGF6, FGFR1OP2, FKBP4, FLJ13224, FOXJ2, FOXM1, GABARAPL1, GABARAPL1-AS1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GOLT1B, GPR162, GPR19, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GSG1, IAPP, GUCY2C, GYS2, H2AJ, H3-5, H4-16, HEBP1, IFFO1, ING4, INTS13, IPO8, IQSEC3, IQSEC3-AS1, IRAG2, ITFG2, ITFG2-AS1, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KDM5A, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KRAS, LAG3, LDHB, LINC00477, LINC00612, LINC00937, LINC00940, LINC00941, LINC00942, LINC00987, LINC01252, LINC01489, LINC01559, LINC02366, LINC02367, LINC02378, LINC02386, LINC02387, LINC02398, LINC02417, LINC02422, LINC02443, LINC02446, LINC02449, LINC02455, LINC02468, LINC02470, LINC02598, LINC02617, LINC02827, LINC02909, LINC02955, LINC02972, LMNTD1, LMO3, LOC100128253, LOC100506606, LOC100507424, LOC101928030, LOC101928441, LOC102723544, LOC102724020, LOC105369595, LOC105369632, LOC105369728, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108942766, LOC109461484, LOC110120854, LOC110120899, LOC110120906, LOC110120907, LOC110120918, LOC110120934, LOC110120948, LOC110120955, LOC110120956, LOC110121389, LOC110121408, LOC110121489, LOC111365179, LOC111501779, LOC112136100, LOC112136106, LOC112163543, LOC112163544, LOC112163545, LOC112163548, LOC112163549, LOC112163550, LOC112163551, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939932, LOC113939935, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC116268436, LOC116268437, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121466693, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC121832829, LOC121832830, LOC121832831, LOC440084, LOC574538, LOC642846, LOC645177, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRP6, LRRC23, LRTM2, LTBR, M6PR, MAGOHB, MANSC1, MANSC4, MED21, MFAP5, MGP, MGST1, MIR1244-3, MIR1244-4, MIR141, MIR200C, MIR200CHG, MIR3649, MIR3974, MIR4302, MIR613, MIR614, MIR920, MLF2, MRPL51, MRPS35, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NINJ2-AS1, NOP2, NRIP2, NTF3, OLR1, OVCH1, OVCH1-AS1, P3H3, PARP11, PARP11-AS1, PDE3A, PDE6H, PEX5, PHB2, PHC1, PIANP, PIK3C2G, PKP2, PLBD1, PLBD1-AS1, PLCZ1, PLEKHA5, PLEKHG6, PPFIBP1, PRB1, PRB2, PRB3, PRB4, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRMT8, PRR4, PTHLH, PTMS, PTPN6, PTPRO, PYROXD1, PZP, RAD51AP1, RAD52, RASSF8, RASSF8-AS1, RBP5, RECQL, REP15, RERG, RERG-AS1, RERGL, RESF1, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SINHCAF, SLC15A5, SLC2A14, SLC2A3, SLC6A12, SLC6A12-AS1, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SMIM10L1, SNORA120, SOX5, SOX5-AS1, SPSB2, SPX, SSPN, ST8SIA1, STK38L, STRAP, STYK1, SYT10, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, TEX52, THCAT155, TIGAR, TM7SF3, TMEM52B, TMTC1, TNFRSF1A, TPI1, TSPAN11, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, WNK1, WNT5B, YARS2, YBX3, ZNF384, ZNF705A
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059794
6.
GRCh37:
Chr12:282465-25623263
GRCh38:
Chr12:80412-25470329
C3AR1, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CAPZA3, CCDC77, CCND2, CCND2-AS1, CD163, CD163L1, CD27, CD27-AS1, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLSTN3, CMAS, COPS7A, CRACR2A, CREBL2, DCP1B, DDX47, DERA, DNAI7, DPPA3, DUSP16, DYRK4, EIF2S3B, EMG1, EMP1, ENO2, EPS8, ERC1, ERP27, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAM234B, FAM66C, FAM90A1, FBXL14, FGF23, FGF6, FKBP4, FOXJ2, FOXM1, GABARAPL1, GABARAPL1-AS1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GOLT1B, GPR162, GPR19, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GSG1, GUCY2C, GYS2, H2AJ, H4-16, HEBP1, IAPP, IFFO1, ING4, IQSEC3, IQSEC3-AS1, IRAG2, ITFG2, ITFG2-AS1, KCNA1, KCNA5, KCNA6, KCNJ8, KDM5A, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KRAS, LAG3, LDHB, LINC00477, LINC00612, LINC00937, LINC00940, LINC00942, LINC00987, LINC01252, LINC01489, LINC01559, LINC02366, LINC02367, LINC02378, LINC02398, LINC02417, LINC02443, LINC02446, LINC02449, LINC02455, LINC02468, LINC02470, LINC02598, LINC02617, LINC02827, LINC02909, LINC02955, LINC02972, LMO3, LOC100128253, LOC100507424, LOC101928030, LOC101928441, LOC102723544, LOC102724020, LOC105369595, LOC105369632, LOC105369728, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108251798, LOC108254668, LOC108281141, LOC108942766, LOC109461484, LOC110120854, LOC110120899, LOC110120906, LOC110120907, LOC110120918, LOC110120934, LOC110120948, LOC110120955, LOC110120956, LOC110121389, LOC110121408, LOC110121489, LOC111365179, LOC111501779, LOC112136100, LOC112136106, LOC112163543, LOC112163544, LOC112163545, LOC112163548, LOC112163549, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939932, LOC113939935, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC440084, LOC574538, LOC642846, LOC645177, LOC728715, LOH12CR2, LPAR5, LPCAT3, LRP6, LRRC23, LRTM2, LTBR, M6PR, MAGOHB, MANSC1, MFAP5, MGP, MGST1, MIR1244-3, MIR1244-4, MIR141, MIR200C, MIR200CHG, MIR3649, MIR3974, MIR613, MIR614, MIR920, MLF2, MRPL51, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NINJ2-AS1, NOP2, NRIP2, NTF3, OLR1, P3H3, PARP11, PARP11-AS1, PDE3A, PDE6H, PEX5, PHB2, PHC1, PIANP, PIK3C2G, PLBD1, PLBD1-AS1, PLCZ1, PLEKHA5, PLEKHG6, PRB1, PRB2, PRB3, PRB4, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRMT8, PRR4, PTMS, PTPN6, PTPRO, PYROXD1, PZP, RAD51AP1, RAD52, RBP5, RECQL, RERG, RERG-AS1, RERGL, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SLC15A5, SLC2A14, SLC2A3, SLC6A12, SLC6A12-AS1, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMCO3, SMIM10L1, SNORA120, SOX5, SOX5-AS1, SPSB2, SPX, ST8SIA1, STRAP, STYK1, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, TEX52, THCAT155, TIGAR, TMEM52B, TNFRSF1A, TPI1, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, WNK1, WNT5B, YBX3, ZNF384, ZNF705A, A2M, A2M-AS1, A2ML1, ABCC9, ACRBP, ACSM4, ADIPOR2, AEBP2, AICDA, AKAP3, ANO2, APOBEC1, APOLD1, ARHGDIB, ART4, ATF7IP, ATN1, B4GALNT3, BCAT1, BCL2L14, BORCS5, C12orf4, C12orf57, C12orf60, C1R, C1RL, C1RL-AS1, C1S, C2CD5
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059795
7.
GRCh37:
Chr12:282465-34756209
GRCh38:
Chr12:121255-34603274
SOX5-AS1, SPSB2, SPX, SSPN, ST8SIA1, STK38L, STRAP, STYK1, SYT10, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, TEX52, THCAT155, TIGAR, TM7SF3, TMEM52B, TMTC1, TNFRSF1A, TPI1, TSPAN11, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, WNK1, WNT5B, YARS2, YBX3, ZNF384, ZNF705A, A2M, A2M-AS1, A2ML1, ABCC9, ACRBP, ACSM4, ADIPOR2, AEBP2, AICDA, AKAP3, ALG10, AMN1, ANO2, APOBEC1, APOLD1, ARHGDIB, ARNTL2, ARNTL2-AS1, ART4, ATF7IP, ATN1, B4GALNT3, BCAT1, BCL2L14, BHLHE41, BICD1, BORCS5, C12orf4, C12orf57, C12orf60, C12orf71, C1R, C1RL, C1RL-AS1, C1S, C2CD5, C3AR1, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CAPRIN2, CAPZA3, CCDC77, CCDC91, CCND2, CCND2-AS1, CD163, CD163L1, CD27, CD27-AS1, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLSTN3, CMAS, COPS7A, CRACR2A, CREBL2, DCP1B, DDX11, DDX11-AS1, DDX47, DENND5B, DENND5B-AS1, DERA, DNAI7, DNM1L, DPPA3, DUSP16, DYRK4, EIF2S3B, EMG1, EMP1, ENO2, EPS8, ERC1, ERGIC2, ERP27, ETFBKMT, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAM234B, FAM66C, FAM90A1, FAR2, FBXL14, FGD4, FGF23, FGF6, FGFR1OP2, FKBP4, FLJ13224, FOXJ2, FOXM1, GABARAPL1, GABARAPL1-AS1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GOLT1B, GPR162, GPR19, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GSG1, GUCY2C, GYS2, H2AJ, H3-5, H4-16, HEBP1, IAPP, IFFO1, ING4, INTS13, IPO8, IQSEC3, IQSEC3-AS1, IRAG2, ITFG2, ITFG2-AS1, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KDM5A, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KRAS, LAG3, LDHB, LINC00477, LINC00612, LINC00937, LINC00940, LINC00941, LINC00942, LINC00987, LINC01252, LINC01489, LINC01559, LINC02366, LINC02367, LINC02378, LINC02386, LINC02387, LINC02398, LINC02417, LINC02422, LINC02443, LINC02446, LINC02449, LINC02455, LINC02468, LINC02470, LINC02598, LINC02617, LINC02827, LINC02909, LINC02955, LINC02972, LMNTD1, LMO3, LOC100128253, LOC100506606, LOC100507424, LOC101928030, LOC101928441, LOC102723544, LOC102724020, LOC105369595, LOC105369632, LOC105369728, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108942766, LOC109461484, LOC110120854, LOC110120899, LOC110120906, LOC110120907, LOC110120918, LOC110120934, LOC110120948, LOC110120955, LOC110120956, LOC110121389, LOC110121408, LOC110121489, LOC111365179, LOC111501779, LOC112136100, LOC112136106, LOC112163543, LOC112163544, LOC112163545, LOC112163548, LOC112163549, LOC112163550, LOC112163551, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939932, LOC113939935, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC116268436, LOC116268437, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121466693, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC121832829, LOC121832830, LOC121832831, LOC440084, LOC574538, LOC642846, LOC645177, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRP6, LRRC23, LRTM2, LTBR, M6PR, MAGOHB, MANSC1, MANSC4, MED21, MFAP5, MGP, MGST1, MIR1244-3, MIR1244-4, MIR141, MIR200C, MIR200CHG, MIR3649, MIR3974, MIR4302, MIR613, MIR614, MIR920, MLF2, MRPL51, MRPS35, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NINJ2-AS1, NOP2, NRIP2, NTF3, OLR1, OVCH1, OVCH1-AS1, P3H3, PARP11, PARP11-AS1, PDE3A, PDE6H, PEX5, PHB2, PHC1, PIANP, PIK3C2G, PKP2, PLBD1, PLBD1-AS1, PLCZ1, PLEKHA5, PLEKHG6, PPFIBP1, PRB1, PRB2, PRB3, PRB4, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRMT8, PRR4, PTHLH, PTMS, PTPN6, PTPRO, PYROXD1, PZP, RAD51AP1, RAD52, RASSF8, RASSF8-AS1, RBP5, RECQL, REP15, RERG, RERG-AS1, RERGL, RESF1, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SINHCAF, SLC15A5, SLC2A14, SLC2A3, SLC6A12, SLC6A12-AS1, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SMIM10L1, SNORA120, SOX5
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147419
8.
GRCh37:
Chr12:282465-133773393
GRCh38:
Chr12:121271-133196807
ATF7IP, ATG101, ATN1, ATP23, ATP2A2, ATP2B1, ATP2B1-AS1, ATP5F1B, ATP5MC2, ATP6V0A2, ATXN2, ATXN2-AS, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT1, B4GALNT3, BAZ2A, BBS10, BCAT1, BCDIN3D, BCDIN3D-AS1, BCL2L14, BCL7A, BEST3, BHLHE41, BICD1, BICDL1, BIN2, BLOC1S1, BLOC1S1-RDH5, BORCS5, BRAP, BRI3BP, BTG1, BTG1-DT, C12orf29, C12orf4, C12orf40, C12orf42, C12orf42-AS1, C12orf43, C12orf50, C12orf54, C12orf56, C12orf57, C12orf60, C12orf71, C12orf73, C12orf74, C12orf75, C12orf75-AS1, C12orf76, C1QL4, C1R, C1RL, C1RL-AS1, C1S, C2CD5, C3AR1, CABP1, CABP1-DT, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CACNB3, CALCOCO1, CAMKK2, CAND1, CAPRIN2, CAPS2, CAPZA3, CASC18, CBX5, CCDC184, CCDC38, CCDC59, CCDC60, CCDC62, CCDC63, CCDC65, CCDC77, CCDC91, CCDC92, CCER1, CCND2, CCND2-AS1, CCNT1, CCT2, CD163, CD163L1, CD27, CD27-AS1, CD4, CD63, CD63-AS1, CD69, CD9, CDCA3, CDK17, CDK2, CDK2AP1, CDK4, CDKN1B, CELA1, CEP290, CEP83, CEP83-DT, CERS5, CFAP251, CFAP54, CFAP73, CHD4, CHFR, CHFR-DT, CHPT1, CHST11, CISTR, CIT, CKAP4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLIP1, CLIP1-AS1, CLLU1, CLLU1-AS1, CLSTN3, CMAS, CMKLR1, CNOT2, CNPY2, CNTN1, COL2A1, COPS7A, COPZ1, COQ10A, COQ5, CORO1C, COX14, COX6A1, CPM, CPNE8, CPSF6, CRACR2A, CRADD, CRADD-AS1, CREBL2, CRY1, CS, CSAD, CSRNP2, CSRP2, CTDSP2, CUX2, CYP27B1, DAO, DAZAP2, DBX2, DCD, DCN, DCP1B, DCTN2, DDIT3, DDN, DDN-AS1, DDX11, DDX11-AS1, DDX23, DDX47, DDX51, DDX54, DDX55, DENND5B, DENND5B-AS1, DENR, DEPDC4, DERA, DGKA, DHH, DHX37, DIABLO, DIP2B, DNAH10, DNAI7, DNAJC14, DNAJC22, DNM1L, DPPA3, DPY19L2, DRAM1, DTX1, DTX3, DUSP16, DUSP6, DYNLL1, DYRK2, DYRK4, E2F7, EEA1, EEF1AKMT3, EID3, EIF2B1, EIF2S3B, EIF4B, ELK3, EMG1, EMP1, ENDOU, ENO2, EP400, EPS8, EPYC, ERBB3, ERC1, ERGIC2, ERP27, ERP29, ESPL1, ESYT1, ETFBKMT, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAIM2, FAM186A, FAM186B, FAM216A, FAM222A, FAM222A-AS1, FAM234B, FAM242C, FAM66C, FAM90A1, FAR2, FBRSL1, FBXL14, FBXO21, FBXW8, FGD4, FGD6, FGF23, FGF6, FGFR1OP2, FICD, FIGNL2, FIGNL2-DT, FKBP11, FKBP4, FLJ12825, FLJ13224, FMNL3, FOXJ2, FOXM1, FOXN4, FRA12A, FRS2, FZD10, FZD10-AS1, GABARAPL1, GABARAPL1-AS1, GALNT4, GALNT6, GALNT8, GALNT9, GAPDH, GARIN6, GAS2L3, GATC, GAU1, GCN1, GDF11, GDF3, GIHCG, GIT2, GLI1, GLIPR1, GLIPR1-AS1, GLIPR1L1, GLIPR1L2, GLS2, GLT1D1, GLT8D2, GLTP, GNB3, GNPTAB, GNS, GOLGA3, GOLT1B, GPD1, GPN3, GPR162, GPR182, GPR19, GPR84, GPR84-AS1, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GRIP1, GSG1, GTF2H3, GTSF1, GUCY2C, GXYLT1, GYS2, H1-7, H2AJ, H3-5, H4-16, HAL, HCAR1, HCAR2, HCAR3, HCFC2, HDAC7, HEBP1, HECTD4, HELB, HIGD1C, HIP1R, HMGA2, HMGA2-AS1, HNF1A, HNF1A-AS1, HNRNPA1, HOTAIR, HOXC-AS1, HOXC-AS2, HOXC-AS3, HOXC10, HOXC11, HOXC12, HOXC13, HOXC13-AS, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HPD, HRK, HSD17B6, HSP90B1, HSPB8, HVCN1, IAPP, IFFO1, IFNG, IFNG-AS1, IFT81, IGF1, IGFBP6, IKBIP, IKZF4, IL22, IL23A, IL26, IL31, ING4, INHBC, INHBE, INTS13, IPO8, IQCD, IQSEC3, IQSEC3-AS1, IRAG2, IRAK3, IRAK4, ISCU, ITFG2, ITFG2-AS1, ITGA5, ITGA7, ITGB7, ITPR2, KANSL2, KCNA1, KCNA5, KCNA6, KCNC2, KCNH3, KCNJ8, KCNMB4, KCTD10, KDM2B, KDM2B-DT, KDM5A, KERA, KICS2, KIF21A, KIF5A, KITLG, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KMT2D, KMT5A, KNTC1, KRAS, KRR1, KRT1, KRT18, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT7-AS, KRT71, KRT72, KRT73, KRT73-AS1, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, KSR2, LACRT, LAG3, LALBA, LARP4, LDHB, LEMD3, LETMD1, LGR5, LHX5, LHX5-AS1, LIMA1, LIN7A, LINC00173, LINC00477, LINC00485, LINC00507, LINC00508, LINC00592, LINC00612, LINC00615, LINC00934, LINC00937, LINC00938, LINC00939, LINC00940, LINC00941, LINC00942, LINC00943, LINC00944, LINC00987, LINC01089, LINC01234, LINC01252, LINC01257, LINC01404, LINC01405, LINC01465, LINC01479, LINC01486, LINC01489, LINC01490, LINC01498, LINC01559, LINC01619, LINC02156, LINC02231, LINC02258, LINC02347, LINC02350, LINC02356, LINC02359, LINC02361, LINC02366, LINC02367, LINC02368, LINC02369, LINC02370, LINC02372, LINC02373, LINC02375, LINC02376, LINC02378, LINC02381, LINC02384, LINC02385, LINC02386, LINC02387, LINC02388, LINC02389, LINC02392, LINC02393, LINC02394, A2M, A2M-AS1, A2ML1, AAAS, AACS, ABCB9, ABCC9, ABCD2, ABTB3, ACACB, ACAD10, ACADS, ACRBP, ACSM4, ACSS3, ACTR6, ACVR1B, ACVRL1, ADAMTS20, ADCY6, ADCY6-DT, ADGRD1, ADGRD1-AS1, ADIPOR2, AEBP2, AGAP2, AGAP2-AS1, AICDA, AKAP3, ALDH1L2, ALDH2, ALG10, ALG10B, ALKBH2, ALX1, AMDHD1, AMHR2, AMIGO2, AMN1, ANAPC5, ANAPC7, ANKLE2, ANKRD13A, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, ANO6, ANP32D, APAF1, APOBEC1, APOF, APOLD1, APPL2, AQP2, AQP5, AQP5-AS1, AQP6, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ARID2, ARL1, ARL6IP4, ARNTL2, ARNTL2-AS1, ARPC3, ART4, ASB8, ASCL1, ASCL4, ASIC1, ATF1, ATF7, ATF7-NPFF, LINC02395, LINC02396, LINC02397, LINC02398, LINC02399, LINC02400, LINC02401, LINC02402, LINC02403, LINC02404, LINC02405, LINC02406, LINC02408, LINC02409, LINC02410, LINC02411, LINC02412, LINC02413, LINC02414, LINC02415, LINC02416, LINC02417, LINC02418, LINC02419, LINC02420, LINC02421, LINC02422, LINC02423, LINC02424, LINC02425, LINC02426, LINC02439, LINC02440, LINC02441, LINC02442, LINC02443, LINC02444, LINC02445, LINC02446, LINC02448, LINC02449, LINC02450, LINC02451, LINC02453, LINC02454, LINC02455, LINC02456, LINC02458, LINC02459, LINC02460, LINC02461, LINC02464, LINC02468, LINC02470, LINC02471, LINC02555, LINC02598, LINC02617, LINC02820, LINC02823, LINC02824, LINC02825, LINC02826, LINC02827, LINC02874, LINC02882, LINC02909, LINC02955, LINC02972, LINC02985, LLPH, LLPH-DT, LMBR1L, LMNTD1, LMO3, LNCOG, LOC100128253, LOC100128276, LOC100130238, LOC100130268, LOC100240734, LOC100240735, LOC100287944, LOC100505978, LOC100506551, LOC100506606, LOC100506869, LOC100507250, LOC100507424, LOC100652999, LOC100996671, LOC101593348, LOC101927583, LOC101928002, LOC101928030, LOC101928416, LOC101928441, LOC101928937, LOC102723544, LOC102724020, LOC102724421, LOC105369187, LOC105369595, LOC105369632, LOC105369728, LOC105369747, LOC105369781, LOC105369879, LOC105369911, LOC105369945, LOC105370024, LOC105370068, LOC106007490, LOC106007491, LOC106096416, LOC106783497, LOC106799839, LOC107105350, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108228199, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108281184, LOC108720144, LOC108720145, LOC108942766, LOC109280163, LOC109280164, LOC109280165, LOC109286556, LOC109461484, LOC110120854, LOC110120878, LOC110120899, LOC110120906, LOC110120907, LOC110120908, LOC110120918, LOC110120934, LOC110120948, LOC110120954, LOC110120955, LOC110120956, LOC110120957, LOC110121322, LOC110121323, LOC110121349, LOC110121363, LOC110121374, LOC110121381, LOC110121389, LOC110121401, LOC110121402, LOC110121403, LOC110121408, LOC110121425, LOC110121435, LOC110121456, LOC110121480, LOC110121489, LOC110599568, LOC111258525, LOC111258526, LOC111365152, LOC111365179, LOC111365214, LOC111413045, LOC111429608, LOC111429617, LOC111465008, LOC111501774, LOC111501779, LOC111556143, LOC111556155, LOC111776216, LOC112136100, LOC112136101, LOC112136102, LOC112136103, LOC112136104, LOC112136105, LOC112136106, LOC112136107, LOC112136108, LOC112136111, LOC112136112, LOC112163525, LOC112163526, LOC112163527, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163543, LOC112163544, LOC112163545, LOC112163546, LOC112163547, LOC112163548, LOC112163549, LOC112163550, LOC112163551, LOC112163552, LOC112163594, LOC112163595, LOC112163596, LOC112163597, LOC112163598, LOC112163600, LOC112163601, LOC112163602, LOC112163604, LOC112163605, LOC112163606, LOC112163607, LOC112163608, LOC112163609, LOC112163612, LOC112163613, LOC112163615, LOC112163617, LOC112163618, LOC112163619, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163628, LOC112163629, LOC112163630, LOC112163631, LOC112163632, LOC112163633, LOC112163634, LOC112163635, LOC112163636, LOC113939930, LOC113939931, LOC113939932, LOC113939933, LOC113939934, LOC113939935, LOC113939936, LOC113939937, LOC114803470, LOC114803471, LOC114827850, LOC114827856, LOC114827860, LOC114827865, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC116268436, LOC116268437, LOC116268438, LOC116268439, LOC116268440, LOC116268441, LOC116268442, LOC116268443, LOC116268444, LOC116268445, LOC116268446, LOC116268447, LOC116268448, LOC116268449, LOC116268450, LOC116268451, LOC116268452, LOC116268453, LOC117038775, LOC117038776, LOC117038778, LOC117038779, LOC117038780, LOC117038781, LOC117038782, LOC120766155, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121466693, LOC121466694, LOC121466695, LOC121466696, LOC121466697, LOC121466698, LOC121466699, LOC121466700, LOC121466701, LOC121466702, LOC121466703, LOC121466704, LOC121466705, LOC121466706, LOC121466707, LOC121466708, LOC121466709, LOC121466710, LOC121466711, LOC121466712, LOC121466713, LOC121466714, LOC121466715, LOC121466716, LOC121466717, LOC121466718, LOC121466719, LOC121466720, LOC121466721, LOC121466722, LOC121466723, LOC121466724, LOC121466725, LOC121466726, LOC121466727, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC121832829, LOC121832830, LOC121832831, LOC121832832, LOC121832833, LOC121832834, LOC121832835, LOC121832836, LOC121832837, LOC121832838, LOC121832839, LOC121832840, LOC121832841, LOC121832842, LOC121832843, LOC121838556, LOC121838557, LOC121838558, LOC121838559, LOC121838560, LOC121838561, LOC121838562, LOC121838563, LOC121838564, LOC121838565, LOC121838566, LOC121838567, LOC121838568, LOC121838569, LOC121838570, LOC121838571, LOC122455340, LOC283387, LOC414300, LOC440084, LOC574538, LOC642846, LOC643339, LOC645177, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRCOL1, LRIG3, LRIG3-DT, LRP1, LRP1-AS, LRP6, LRRC10, LRRC23, LRRC43, LRRIQ1, LRRK2, LRTM2, LTA4H, LTBR, LUM, LYZ, M6PR, MAGOHB, MANSC1, MANSC4, MAP1LC3B2, MAP3K12, MAPKAPK5, MAPKAPK5-AS1, MARCHF9, MARS1, MBD6, MCRS1, MDM1, MDM2, MED13L, MED21, METAP2, METTL1, METTL25, METTL7A, METTL7B, MFAP5, MFSD5, MGAT4C, MGP, MGST1, MIP, MIR10527, MIR1178, MIR1228, MIR1244-3, MIR1244-4, MIR1251, MIR1252, MIR1279, MIR1291, MIR1293, MIR1302-1, MIR135A2, MIR141, MIR148B, MIR1827, MIR196A2, MIR200C, MIR200CHG, MIR26A2, MIR3059, MIR3198-2, MIR331, MIR3612, MIR3649, MIR3652, MIR3657, MIR3685, MIR3908, MIR3913-1, MIR3913-2, MIR3922, MIR3974, MIR4302, MIR4303, MIR4304, MIR4419B, MIR4472-2, MIR4494, MIR4495, MIR4496, MIR4497, MIR4498, MIR4698, MIR4699, MIR4700, MIR4701, MIR492, MIR5188, MIR548C, MIR548Z, MIR5700, MIR6074, MIR6125, MIR613, MIR614, MIR615, MIR616, MIR617, MIR618, MIR619, MIR620, MIR6502, MIR6505, MIR6757, MIR6758, MIR6759, MIR6760, MIR6761, MIR6762, MIR6763, MIR6861, MIR6880, MIR7106, MIR7107, MIR7844, MIR7851, MIR8072, MIR920, MIR9898, MIR9902-1, MIR9902-2, MIRLET7I, MIRLET7IHG, MLEC, MLF2, MLXIP, MMAB, MMP17, MMP19, MON2, MORN3, MPHOSPH9, MRPL42, MRPL51, MRPS35, MSI1, MSRB3, MSRB3-AS1, MTERF2, MTRFR, MUC19, MUC8, MUCL1, MVK, MYBPC1, MYF5, MYF6, MYG1, MYL2, MYL6, MYL6B, MYO1A, MYO1H, MYRFL, NAA25, NAB2, NABP2, NACA, NANOG, NANOGNB, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCKAP5L, NCOR2, NDUFA12, NDUFA4L2, NDUFA9, NECAP1, NEDD1, NELL2, NEMP1, NEUROD4, NFE2, NFYB, NINJ2, NINJ2-AS1, NOC4L, NOP2, NOPCHAP1, NOS1, NPFF, NR1H4, NR2C1, NR4A1, NR4A1AS, NRAV, NRIP2, NT5DC3, NTF3, NTN4, NTS, NUAK1, NUDT4, NUP107, NUP37, NXPH4, OAS1, OAS2, OAS3, OASL, OGFOD2, OLR1, OR10A7, OR10AD1, OR10P1, OR2AP1, OR5BS1P, OR6C1, OR6C2, OR6C3, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C74, OR6C75, OR6C76, OR8S1, OR9K2, ORAI1, ORI6, ORMDL2, OS9, OSBPL8, OTOGL, OVCH1, OVCH1-AS1, P2RX2, P2RX4, P2RX7, P3H3, PA2G4, PAH, PAN2, PARP11, PARP11-AS1, PARPBP, PAWR, PCBP2, PCBP2-OT1, PCED1B, PCED1B-AS1, PDE1B, PDE3A, PDE6H, PDZRN4, PEBP1, PEX5, PFDN5, PFKM, PGAM5, PHB2, PHC1, PHETA1, PHLDA1, PIANP, PIK3C2G, PIP4K2C, PITPNM2, PITPNM2-AS1, PIWIL1, PKP2, PLA2G1B, PLBD1, PLBD1-AS1, PLBD2, PLCZ1, PLEKHA5, PLEKHG6, PLEKHG7, PLXNC1, PMCH, PMEL, POC1B, POC1B-AS1, POC1B-GALNT4, POLE, POLR3B, POP5, POU6F1, PPFIA2, PPFIA2-AS1, PPFIBP1, PPHLN1, PPM1H, PPP1CC, PPP1R12A, PPP1R12A-AS1, PPP1R12A-AS2, PPP1R1A, PPTC7, PRANCR, PRB1, PRB2, PRB3, PRB4, PRDM4, PRDM4-AS1, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRICKLE1, PRIM1, PRKAB1, PRKAG1, PRMT8, PRPF40B, PRPH, PRR13, PRR4, PSMD9, PTGES3, PTHLH, PTMS, PTPN11, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PUS1, PUS7L, PWP1, PXMP2, PXN, PXN-AS1, PYM1, PYROXD1, PZP, R3HDM2, RAB21, RAB35, RAB3IP, RAB5B, RACGAP1, RAD51AP1, RAD52, RAD9B, RAN, RAP1B, RAPGEF3, RARG, RASAL1, RASSF3, RASSF3-DT, RASSF8, RASSF8-AS1, RASSF9, RBM19, RBMS2, RBP5, RDH16, RDH5, RECQL, REP15, RERG, RERG-AS1, RERGL, RESF1, RFC5, RFLNA, RFX4, RHEBL1, RHNO1, RHOF, RIC8B, RILPL1, RILPL2, RIMBP2, RIMKLB, RITA1, RMST, RND1, RNF10, RNF34, RNF41, RNFT2, RNU4-1, RNU4-2, RNU7-1, RPAP3, RPAP3-DT, RPH3A, RPL41, RPL6, RPLP0, RPS26, RSRC2, RXYLT1, RXYLT1-AS1, SARNP, SART3, SBNO1, SBNO1-AS1, SCAF11, SCARB1, SCARNA10, SCARNA11, SCARNA12, SCAT2, SCN8A, SCNN1A, SCYL2, SDR9C7, SDS, SDSL, SELPLG, SENP1, SETD1B, SFSWAP, SH2B3, SHMT2, SINHCAF, SIRT4, SLC11A2, SLC15A4, SLC15A5, SLC16A7, SLC17A8, SLC25A3, SLC2A13, SLC2A14, SLC2A3, SLC35E3, SLC38A1, SLC38A2, SLC38A2-AS1, SLC38A4, SLC38A4-AS1, SLC39A5, SLC41A2, SLC48A1, SLC4A8, SLC5A8, SLC6A12, SLC6A12-AS1, SLC6A13, SLC6A15, SLC8B1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMAGP, SMARCC2, SMARCD1, SMCO2, SMCO3, SMIM10L1, SMIM41, SMUG1, SNORA105C, SNORA113, SNORA120, SNORA2A, SNORA2B, SNORA2C, SNORA49, SNORA53, SNORA70G, SNORA9B, SNORD133, SNORD59A, SNORD59B, SNRNP35, SNRPF, SNRPF-DT, SOAT2, SOCS2, SOCS2-AS1, SOX5, SOX5-AS1, SP1, SP7, SPATS2, SPIC, SPPL3, SPRING1, SPRYD3, SPRYD4, SPSB2, SPX, SRGAP1, SRRM4, SRSF9, SSH1, SSPN, ST8SIA1, STAB2, STAC3, STAT2, STAT6, STK38L, STRAP, STX2, STYK1, SUDS3, SUOX, SVOP, SYCP3, SYT1, SYT10, TAC3, TAFA2, TAMALIN, TAMALIN-AS1, TAOK3, TAPBPL, TARBP2, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TBC1D15, TBC1D30, TBK1, TBX3, TBX3-AS1, TBX5, TBX5-AS1, TCHP, TCP11L2, TCTN1, TCTN2, TDG, TEAD4, TESC, TESC-AS1, TESPA1, TEX49, TEX52, TFCP2, THAP2, THCAT155, THRIL, TIGAR, TIMELESS, TM7SF3, TMBIM4, TMBIM6, TMCC3, TMDD1, TMED2, TMED2-DT, TMEM106C, TMEM116, TMEM117, TMEM119, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TMEM19, TMEM233, TMEM263, TMEM52B, TMPO, TMPO-AS1, TMPRSS12, TMTC1, TMTC2, TMTC3, TNFRSF1A, TNS2, TNS2-AS1, TPCN1, TPH2, TPI1, TRA-TGC3-2, TRA-TGC4-1, TRAFD1, TRD-GTC1-1, TRD-GTC2-10, TRD-GTC2-8, TRD-GTC2-9, TRF-GAA1-4, TRHDE, TRHDE-AS1, TRIAP1, TROAP, TROAP-AS1, TRPV4, TRS-CGA4-1, TRW-CCA4-1, TSFM, TSPAN11, TSPAN19, TSPAN31, TSPAN8, TSPAN9, TUBA1A, TUBA1B, TUBA1C, TULP3, TWF1, TXNRD1, UBC, UBE2N, UBE3B, UHRF1BP1L, ULK1, UNC119B, UNG, USP15, USP30, USP30-AS1, USP44, USP5, UTP20, VAMP1, VDR, VEZT, VPS29, VPS33A, VPS37B, VSIG10, VWF, WASHC3, WASHC4, WBP11, WIF1, WNK1, WNT1, WNT10B, WNT5B, WSB2, WSCD2, XLOC_009911, XPOT, YAF2, YARS2, YBX3, YEATS4, ZBTB39, ZC3H10, ZCCHC8, ZCRB1, ZDHHC17, ZFC3H1, ZNF10, ZNF140, ZNF26, ZNF268, ZNF384, ZNF385A, ZNF605, ZNF641, ZNF664, ZNF664-RFLNA, ZNF705A, ZNF740, ZNF84, ZNF84-DT, ZNF891
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150740
9.
GRCh37:
Chr12:282465-34756196
GRCh38:
Chr12:121271-34603261
A2M, A2M-AS1, A2ML1, ABCC9, ACRBP, ACSM4, ADIPOR2, AEBP2, AICDA, AKAP3, ALG10, AMN1, ANO2, APOBEC1, APOLD1, ARHGDIB, ARNTL2, ARNTL2-AS1, ART4, ATF7IP, ATN1, B4GALNT3, BCAT1, BCL2L14, BHLHE41, BICD1, BORCS5, C12orf4, C12orf57, C12orf60, C12orf71, C1R, C1RL, C1RL-AS1, C1S, C2CD5, C3AR1, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CAPRIN2, CAPZA3, CCDC77, CCDC91, CCND2, CCND2-AS1, CD163, CD163L1, CD27, CD27-AS1, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLSTN3, CMAS, COPS7A, CRACR2A, CREBL2, DCP1B, DDX11, DDX11-AS1, DDX47, DENND5B, DENND5B-AS1, DERA, DNAI7, DNM1L, DPPA3, DUSP16, DYRK4, EIF2S3B, EMG1, EMP1, ENO2, EPS8, ERC1, ERGIC2, ERP27, ETFBKMT, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAM234B, FAM66C, FAM90A1, FAR2, FBXL14, FGD4, FGF23, FGF6, FGFR1OP2, FKBP4, FLJ13224, FOXJ2, FOXM1, GABARAPL1, GABARAPL1-AS1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GOLT1B, GPR162, GPR19, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GSG1, GUCY2C, GYS2, H2AJ, H3-5, H4-16, HEBP1, IAPP, IFFO1, ING4, INTS13, IPO8, IQSEC3, IQSEC3-AS1, IRAG2, ITFG2, ITFG2-AS1, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KDM5A, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KRAS, LAG3, LDHB, LINC00477, LINC00612, LINC00937, LINC00940, LINC00941, LINC00942, LINC00987, LINC01252, LINC01489, LINC01559, LINC02366, LINC02367, LINC02378, LINC02386, LINC02387, LINC02398, LINC02417, LINC02422, LINC02443, LINC02446, LINC02449, LINC02455, LINC02468, LINC02470, LINC02598, LINC02617, LINC02827, LINC02909, LINC02955, LINC02972, LMNTD1, LMO3, LOC100128253, LOC100506606, LOC100507424, LOC101928030, LOC101928441, LOC102723544, LOC102724020, LOC105369595, LOC105369632, LOC105369728, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108942766, LOC109461484, LOC110120854, LOC110120899, LOC110120906, LOC110120907, LOC110120918, LOC110120934, LOC110120948, LOC110120955, LOC110120956, LOC110121389, LOC110121408, LOC110121489, LOC111365179, LOC111501779, LOC112136100, LOC112136106, LOC112163543, LOC112163544, LOC112163545, LOC112163548, LOC112163549, LOC112163550, LOC112163551, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939932, LOC113939935, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC116268436, LOC116268437, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121466693, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC121832829, LOC121832830, LOC121832831, LOC440084, LOC574538, LOC642846, LOC645177, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRP6, LRRC23, LRTM2, LTBR, M6PR, MAGOHB, MANSC1, MANSC4, MED21, MFAP5, MGP, MGST1, MIR1244-3, MIR1244-4, MIR141, MIR200C, MIR200CHG, MIR3649, MIR3974, MIR4302, MIR613, MIR614, MIR920, MLF2, MRPL51, MRPS35, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NINJ2-AS1, NOP2, NRIP2, NTF3, OLR1, OVCH1, OVCH1-AS1, P3H3, PARP11, PARP11-AS1, PDE3A, PDE6H, PEX5, PHB2, PHC1, PIANP, PIK3C2G, PKP2, PLBD1, PLBD1-AS1, PLCZ1, PLEKHA5, PLEKHG6, PPFIBP1, PRB1, PRB2, PRB3, PRB4, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRMT8, PRR4, PTHLH, PTMS, PTPN6, PTPRO, PYROXD1, PZP, RAD51AP1, RAD52, RASSF8, RASSF8-AS1, RBP5, RECQL, REP15, RERG, RERG-AS1, RERGL, RESF1, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SINHCAF, SLC15A5, SLC2A14, SLC2A3, SLC6A12, SLC6A12-AS1, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SMIM10L1, SNORA120, SOX5, SOX5-AS1, SPSB2, SPX, SSPN, ST8SIA1, STK38L, STRAP, STYK1, SYT10, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, TEX52, THCAT155, TIGAR, TM7SF3, TMEM52B, TMTC1, TNFRSF1A, TPI1, TSPAN11, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, WNK1, WNT5B, YARS2, YBX3, ZNF384, ZNF705A
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150158
10.
GRCh37:
Chr12:322142-34079848
GRCh38:
Chr12:212976-33926913
A2M, A2M-AS1, A2ML1, ABCC9, ACRBP, ACSM4, ADIPOR2, AEBP2, AICDA, AKAP3, AMN1, ANO2, APOBEC1, APOLD1, ARHGDIB, ARNTL2, ARNTL2-AS1, ART4, ATF7IP, ATN1, B4GALNT3, BCAT1, BCL2L14, BHLHE41, BICD1, BORCS5, C12orf4, C12orf57, C12orf60, C12orf71, C1R, C1RL, C1RL-AS1, C1S, C2CD5, C3AR1, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CAPRIN2, CAPZA3, CCDC77, CCDC91, CCND2, CCND2-AS1, CD163, CD163L1, CD27, CD27-AS1, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLSTN3, CMAS, COPS7A, CRACR2A, CREBL2, DCP1B, DDX11, DDX11-AS1, DDX47, DENND5B, DENND5B-AS1, DERA, DNAI7, DNM1L, DPPA3, DUSP16, DYRK4, EIF2S3B, EMG1, EMP1, ENO2, EPS8, ERC1, ERGIC2, ERP27, ETFBKMT, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAM234B, FAM66C, FAM90A1, FAR2, FBXL14, FGD4, FGF23, FGF6, FGFR1OP2, FKBP4, FLJ13224, FOXJ2, FOXM1, GABARAPL1, GABARAPL1-AS1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GOLT1B, GPR162, GPR19, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GSG1, GUCY2C, GYS2, H2AJ, H3-5, H4-16, HEBP1, IAPP, IFFO1, ING4, INTS13, IPO8, IRAG2, ITFG2, ITFG2-AS1, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KDM5A, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KRAS, LAG3, LDHB, LINC00477, LINC00612, LINC00937, LINC00940, LINC00941, LINC00942, LINC00987, LINC01252, LINC01489, LINC01559, LINC02366, LINC02367, LINC02378, LINC02386, LINC02387, LINC02398, LINC02417, LINC02422, LINC02443, LINC02446, LINC02449, LINC02455, LINC02468, LINC02470, LINC02598, LINC02617, LINC02827, LINC02909, LINC02955, LINC02972, LMNTD1, LMO3, LOC100128253, LOC100506606, LOC100507424, LOC101928030, LOC101928441, LOC102723544, LOC102724020, LOC105369595, LOC105369632, LOC105369728, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108942766, LOC109461484, LOC110120854, LOC110120899, LOC110120906, LOC110120907, LOC110120918, LOC110120934, LOC110120948, LOC110120955, LOC110120956, LOC110121389, LOC110121408, LOC110121489, LOC111365179, LOC111501779, LOC112136100, LOC112136106, LOC112163543, LOC112163544, LOC112163545, LOC112163548, LOC112163549, LOC112163550, LOC112163551, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939932, LOC113939935, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC116268436, LOC116268437, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121466693, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC121832829, LOC121832830, LOC440084, LOC642846, LOC645177, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRP6, LRRC23, LRTM2, LTBR, M6PR, MAGOHB, MANSC1, MANSC4, MED21, MFAP5, MGP, MGST1, MIR1244-3, MIR1244-4, MIR141, MIR200C, MIR200CHG, MIR3649, MIR3974, MIR4302, MIR613, MIR614, MIR920, MLF2, MRPL51, MRPS35, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NINJ2-AS1, NOP2, NRIP2, NTF3, OLR1, OVCH1, OVCH1-AS1, P3H3, PARP11, PARP11-AS1, PDE3A, PDE6H, PEX5, PHB2, PHC1, PIANP, PIK3C2G, PKP2, PLBD1, PLBD1-AS1, PLCZ1, PLEKHA5, PLEKHG6, PPFIBP1, PRB1, PRB2, PRB3, PRB4, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRMT8, PRR4, PTHLH, PTMS, PTPN6, PTPRO, PYROXD1, PZP, RAD51AP1, RAD52, RASSF8, RASSF8-AS1, RBP5, RECQL, REP15, RERG, RERG-AS1, RERGL, RESF1, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SINHCAF, SLC15A5, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SMIM10L1, SNORA120, SOX5, SOX5-AS1, SPSB2, SPX, SSPN, ST8SIA1, STK38L, STRAP, STYK1, SYT10, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, TEX52, THCAT155, TIGAR, TM7SF3, TMEM52B, TMTC1, TNFRSF1A, TPI1, TSPAN11, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, WNK1, WNT5B, YARS2, YBX3, ZNF384, ZNF705A
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059799
11.
GRCh37:
Chr12:1367440-20810511
GRCh38:
Chr12:1258274-20657577
A2M, A2M-AS1, A2ML1, ACRBP, ACSM4, ADIPOR2, AEBP2, AICDA, AKAP3, ANO2, APOBEC1, APOLD1, ARHGDIB, ART4, ATF7IP, ATN1, BCL2L14, BORCS5, C12orf4, C12orf57, C12orf60, C1R, C1RL, C1RL-AS1, C1S, C3AR1, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CAPZA3, CCND2, CCND2-AS1, CD163, CD163L1, CD27, CD27-AS1, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLSTN3, COPS7A, CRACR2A, CREBL2, DCP1B, DDX47, DERA, DPPA3, DUSP16, DYRK4, EIF2S3B, EMG1, EMP1, ENO2, EPS8, ERC1, ERP27, ETV6, FAM234B, FAM66C, FAM90A1, FBXL14, FGF23, FGF6, FKBP4, FOXJ2, FOXM1, GABARAPL1, GABARAPL1-AS1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GPR162, GPR19, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GSG1, GUCY2C, H2AJ, H4-16, HEBP1, IFFO1, ING4, ITFG2, ITFG2-AS1, KCNA1, KCNA5, KCNA6, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, LAG3, LINC00612, LINC00937, LINC00940, LINC00942, LINC00987, LINC01252, LINC01489, LINC01559, LINC02366, LINC02367, LINC02378, LINC02398, LINC02417, LINC02443, LINC02446, LINC02449, LINC02468, LINC02470, LINC02598, LINC02617, LINC02827, LINC02972, LMO3, LOC100128253, LOC100507424, LOC101928030, LOC102724020, LOC105369632, LOC105369728, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108251798, LOC108254668, LOC108281141, LOC108942766, LOC109461484, LOC110120854, LOC110120899, LOC110120906, LOC110120907, LOC110120918, LOC110120934, LOC110120955, LOC110120956, LOC110121389, LOC111365179, LOC112136100, LOC112136106, LOC112163543, LOC112163544, LOC112163545, LOC112163552, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939932, LOC113939935, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC120807612, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121832825, LOC121832826, LOC121832827, LOC440084, LOC642846, LOC728715, LOH12CR2, LPAR5, LPCAT3, LRP6, LRRC23, LRTM2, LTBR, M6PR, MAGOHB, MANSC1, MFAP5, MGP, MGST1, MIR1244-3, MIR1244-4, MIR141, MIR200C, MIR200CHG, MIR3649, MIR3974, MIR613, MIR614, MLF2, MRPL51, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NOP2, NRIP2, NTF3, OLR1, P3H3, PARP11, PARP11-AS1, PDE3A, PDE6H, PEX5, PHB2, PHC1, PIANP, PIK3C2G, PLBD1, PLBD1-AS1, PLCZ1, PLEKHA5, PLEKHG6, PRB1, PRB2, PRB3, PRB4, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRMT8, PRR4, PTMS, PTPN6, PTPRO, PZP, RAD51AP1, RBP5, RERG, RERG-AS1, RERGL, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SLC15A5, SLC2A14, SLC2A3, SMCO3, SMIM10L1, SNORA120, SPSB2, STRAP, STYK1, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, TEX52, THCAT155, TIGAR, TMEM52B, TNFRSF1A, TPI1, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, WNT5B, YBX3, ZNF384, ZNF705A
See casesPathogenic
(Jul 16, 2013)
no assertion criteria providedVCV000153563
12.
GRCh37:
Chr12:2980907-15140282
GRCh38:
Chr12:2871741-14987348
A2M, A2M-AS1, A2ML1, ACRBP, ACSM4, AICDA, AKAP3, ANO2, APOBEC1, APOLD1, ARHGDIB, ART4, ATF7IP, ATN1, BCL2L14, BORCS5, C12orf4, C12orf57, C12orf60, C1R, C1RL, C1RL-AS1, C1S, C3AR1, CCND2, CCND2-AS1, CD163, CD163L1, CD27, CD27-AS1, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLSTN3, COPS7A, CRACR2A, CREBL2, DDX47, DPPA3, DUSP16, DYRK4, EIF2S3B, EMG1, EMP1, ENO2, ERP27, ETV6, FAM234B, FAM66C, FAM90A1, FGF23, FGF6, FOXJ2, FOXM1, GABARAPL1, GABARAPL1-AS1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GPR162, GPR19, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GSG1, GUCY2C, H2AJ, H4-16, HEBP1, IFFO1, ING4, KCNA1, KCNA5, KCNA6, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, LAG3, LINC00612, LINC00937, LINC00987, LINC01252, LINC01559, LINC02366, LINC02367, LINC02417, LINC02443, LINC02446, LINC02449, LINC02470, LINC02598, LINC02617, LINC02827, LINC02972, LOC100128253, LOC101928030, LOC102724020, LOC105369632, LOC105369728, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC108178986, LOC108178987, LOC108281141, LOC108942766, LOC109461484, LOC112136106, LOC112163543, LOC112163544, LOC112163545, LOC112163552, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939932, LOC113939935, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC120807612, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121832825, LOC121832826, LOC121832827, LOC440084, LOC642846, LOC728715, LOH12CR2, LPAR5, LPCAT3, LRP6, LRRC23, LTBR, M6PR, MAGOHB, MANSC1, MFAP5, MGP, MIR1244-3, MIR1244-4, MIR141, MIR200C, MIR200CHG, MIR613, MIR614, MLF2, MRPL51, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NOP2, NTF3, OLR1, P3H3, PARP11, PARP11-AS1, PDE6H, PEX5, PHB2, PHC1, PIANP, PLBD1, PLBD1-AS1, PLEKHG6, PRB1, PRB2, PRB3, PRB4, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRMT8, PRR4, PTMS, PTPN6, PZP, RAD51AP1, RBP5, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SLC2A14, SLC2A3, SMCO3, SMIM10L1, SNORA120, SPSB2, STYK1, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, THCAT155, TIGAR, TMEM52B, TNFRSF1A, TPI1, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, YBX3, ZNF384, ZNF705A
See casesPathogenic
(Aug 26, 2011)
no assertion criteria providedVCV000148626
13.
GRCh37:
Chr12:6679866
GRCh38:
Chr12:6570700
CHD4not providedLikely benign
(Oct 27, 2021)
criteria provided, single submitterVCV001610854
14.
GRCh37:
Chr12:6679876
GRCh38:
Chr12:6570710
CHD4not providedBenign
(Nov 9, 2021)
criteria provided, single submitterVCV001605705
15.
GRCh37:
Chr12:6680040
GRCh38:
Chr12:6570874
CHD4Q1896*, Q1899*, Q1906*not providedUncertain significance
(May 2, 2022)
criteria provided, single submitterVCV001683814
16.
GRCh37:
<