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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr4:118986724-190828225
GRCh38:
Chr4:118065569-190042639
LOC121056752, MGST2, LOC107992388, SAP30-DT, LOC116158508, UFSP2, IQCM, LINC02479, LINC02500, LRBA, AADAT, SNORD73B, HSPA4L, APELA, TRIML1, HELT, LINC01099, LINC02485, LOC121056747, TRIM61, SMARCA5, LINC02509, INPP4B, FBXW7-AS1, ANKRD37, RBM46, PCDH18, LINC01061, ZNF330, LINC02355, IL21, PRMT9, LINC02172, LINC02233, LOC121056744, LOC110120796, FBXW7, EXOSC9, CEP44, ABHD18, ANXA10, STOX2, LINC01262, KIAA1109, SFRP2, PDGFC, PRDM5, MAP9, HAND2-AS1, SMIM31, JADE1, GYPE, CFAP97, METTL14-DT, LINC00499, RWDD4, NPY5R, FABP2, LINC02174, MFSD8, PLRG1, SCOC-AS1, C4orf45, SNORA24, LINC02273, LOC121056749, SEC24D, CPE, LOC110121078, ING2, LINC02275, RAB33B, TMEM131L, LINC01095, AGA-DT, FGB, TRC-GCA2-1, GAB1, C4orf33, KLHL2, ANKRD50, LINC02433, MIR4454, SMAD1, RNF150, GYPA, NPY1R, LOC112939919, SORBS2, INTU, LINC02507, PDE5A, LOC121056748, ANAPC10, MIR4799, LOC112939926, SMIM43, LOC114827822, TENM3-AS1, GYPB, FHDC1, LINC01060, LOC121056755, F11-AS1, LINC02268, LRAT, SH3D19, LINC02363, LINC02511, NAA15, CTSO, LOC121056753, LOC121056741, LINC00616, LINC02434, RAPGEF2, LOC112939918, LOC111413048, PLK4, LOC110121150, MIR4455, LOC116158509, LOC110121259, MIR1305, LINC01179, LOC101929762, USP38, GATB, TLR3, MIR4453HG, SCOC, ETFDH, LOC101928052, LINC02465, RAB33B-AS1, LINC02266, LOC121056751, LINC02462, MND1, TRPC3, DDX60, LOC114827834, MIR3688-1, CCNA2, LOC107986192, MIR6082, MIR578, FHIP1A, AGA, SMAD1-AS2, SCRG1, GRIA2, FAM149A, NR3C2, CYP4V2, USP53, TRIM75, LOC112935979, TRAPPC11, GALNTL6-AS1, PRSS12, MIR4453, FBXO8, LOC105377590, PRIMPOL, QRFPR, CBR4, LOC339975, LINC00498, GALNT7-DT, LOC110121089, MIR548T, SNX25, LOC112939922, MIR7849, LOC105377622, LOC116158507, GALNTL6, MGAT4D, SPRY1, C4orf47, LOC729870, GUCY1A1, DDX60L, FREM3, IL21-AS1, FGA, ABCE1, TRIM60, GPM6A, PGRMC2, SH3RF1, WWC2-AS1, MSMO1, FHIP1A-DT, LINC02365, CLCN3, DCLK2, SMAD1-AS1, SNHG27, FSTL5, LINC01256, SLC25A31, TENM3, ASB5, HAND2, GPM6A-DT, FAT1, ANP32C, ZFP42, MIR3945, ZNF827, LSM6, LINC02269, TTC29, LOC112935980, F11, LINC02515, LINC02431, PPID, USP38-DT, GASK1B-AS1, LINC02377, TMEM184C, LOC441052, SAP30, LOC121056745, LOC101927516, LOC116158510, NAF1, CASP3, KLKB1, LINC01093, MFAP3L, FAT4, LOC112939921, LOC112935978, BBS7, NEIL3, ELF2, LINC02615, LOC108281188, PRSS48, LINC02432, LOC110121159, SLC7A11-AS1, WDR17, LOC109113863, RPS3A, LOC105377623, LOC121056750, LINC02427, ADAM29, LOC111413027, NEK1, WWC2-AS2, LOC112939927, OTUD4, SPATA4, DCTD, LOC110120799, LINC01098, SPATA5, ELMOD2, SLC10A7, FAM218A, LINC02362, LOC729558, CENPU, MARCHF1, LINC02504, CLDN22, HHIP-AS1, LINC02379, GK3P, LOC108281192, TMA16, LRP2BP, LINC01612, TIGD4, FRG2, RNF175, TMEM192, GALNT7, MIR4276, SLC25A4, PALLD, LOC101928198, TDO2, TBC1D9, FGG, MAB21L2, HPGD, SNHG8, LINC00290, NUDT6, MIR3139, LARP1B, MIR3688-2, NDNF, C4orf3, LOC110121129, SPOCK3, SLC7A11, MGARP, LOC114827833, MTNR1A, MAML3, LINC02276, ASIC5, LINC02491, QKILA, FNIP2, CDKN2AIP, ING2-DT, TRIM2, ADAD1, PP12613, NDNF-AS1, PDLIM3, LOC121056743, LOC121056746, LINC01596, LINC02516, MAD2L1, NDST3, LINC02466, FLJ38576, LOC110121190, FRG1-DT, MIR3945HG, TRIML2, SYNPO2, EDNRA, HPF1, HMGB2, LINC02508, LINC01365, MYOZ2, GASK1B, MIR2054, UCP1, LINC02374, LOC101927636, MMAA, LINC02510, FGF2, TLL1, LOC105377480, LOC114004384, SETD7, LOC111556115, TNIP3, SPCS3, GLRA3, REELD1, DCHS2, LOC101928131, FRG1, RXFP1, C4orf51, LOC112939923, LOC121056742, LOC121056754, CCDC110, LOC102724776, LOC105377458, CLDN24, C4orf46, TEMN3-AS1, ANXA5, TMEM154, TMEM144, PCDH10, GUCY1B1, LINC01091, LOC112935977, LOC101928551, SNORD73A, BBS12, LOC112939920, LINC02502, LINC02492, VEGFC, IL2, IL15, METTL14, MIR3140, NDUFC1, NOCT, LINC02382, POU4F2, PABPC4L, ENPP6, SMARCA5-AS1, LINC00613, TKTL2, MAD2L1-DT, ARHGAP10, LOC105377448, HHIP, SCLT1, ACSL1, LINC02436, PCDH10-DT, MIR548G, GLRB, LINC02514, IRF2, ARFIP1, NPY2R, TLR2, CLGN, WWC2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058042
2.
GRCh37:
Chr4:122439378-190828225
GRCh38:
Chr4:121518223-190062270
STOX2, HAND2-AS1, FRG1-DT, LINC02507, HHIP, NEK1, LINC02511, LOC121056751, F11-AS1, GATB, TRIM60, SLC7A11-AS1, SCOC, LINC02510, C4orf47, LINC01179, LOC101928131, CBR4, CYP4V2, LOC112939922, LOC112939921, TBC1D9, CLDN24, GYPE, LOC101928551, LINC02431, LOC112939923, LINC02355, LOC112939926, REELD1, LOC121056744, PRIMPOL, ZNF330, LINC02466, LINC01262, WWC2-AS1, LINC02379, LINC02275, GUCY1B1, INPP4B, TMEM144, MFAP3L, CLGN, FAM218A, LOC110121089, SPATA5, LOC121056743, MFSD8, GUCY1A1, TMA16, ADAD1, FBXW7, LOC121056754, INTU, ANKRD37, HPF1, LOC121056747, LOC109113863, ANXA5, FRG2, SMAD1-AS2, LINC02509, ADAM29, RBM46, DDX60, LOC110121259, LINC02485, SPRY1, MSMO1, LOC108281192, MIR7849, SNORD73B, MIR6082, RNF175, SLC10A7, NEIL3, POU4F2, MIR3945HG, LOC116158509, MIR4455, SLC25A4, WWC2, HSPA4L, LINC01093, TRAPPC11, CDKN2AIP, ANP32C, LOC105377590, VEGFC, RXFP1, LOC102724776, LINC00498, TMEM192, DCLK2, NOCT, UFSP2, SETD7, LOC112935980, LINC02432, RAB33B-AS1, TENM3, SCOC-AS1, FREM3, MAML3, TEMN3-AS1, ELF2, ANXA10, UCP1, ELMOD2, ING2, TENM3-AS1, LOC729558, IL21-AS1, LOC729870, TMEM154, NPY2R, PALLD, LOC105377448, TRIM75, LINC02365, LOC121056750, C4orf51, MIR3140, NR3C2, FNIP2, WWC2-AS2, GPM6A-DT, LOC116158508, LINC02500, TLR2, LINC02382, LINC02504, PGRMC2, ZFP42, LOC107992388, SMAD1, LRAT, EXOSC9, CTSO, CCNA2, LOC114827834, FSTL5, SNX25, LOC112939918, PCDH10, PABPC4L, CEP44, FGA, IRF2, ETFDH, USP38-DT, MIR3688-2, MIR1305, TRIM61, FBXW7-AS1, MGARP, ACSL1, MMAA, FRG1, TDO2, KLKB1, FHIP1A, MTNR1A, ASB5, MIR3945, LINC02462, GALNT7-DT, TRPC3, DDX60L, GLRB, NUDT6, F11, NAF1, LINC02363, LOC112935979, PCDH10-DT, LOC121056752, LOC112935978, HAND2, TRIM2, ANKRD50, MAB21L2, CLCN3, LINC02491, SMIM31, RWDD4, FHIP1A-DT, APELA, LOC121056749, EDNRA, MIR3139, LOC111413048, LINC01612, MGST2, LOC105377480, LOC105377623, DCTD, LOC112939920, MIR548G, DCHS2, GALNT7, LINC02479, ING2-DT, TRIML2, SMAD1-AS1, LOC116158507, LOC110120799, SMIM43, MIR2054, IL2, ANAPC10, PRSS48, SLC25A31, PCDH18, CASP3, LOC116158510, QKILA, LOC110121078, SMARCA5, LINC02434, GYPB, FBXO8, LINC02268, LOC114827822, LOC441052, LRP2BP, IQCM, LINC02508, SFRP2, LINC02465, SH3RF1, CPE, MIR4276, TTC29, LARP1B, TIGD4, GALNTL6-AS1, PRMT9, LOC101928198, HMGB2, TRC-GCA2-1, LINC00613, PP12613, TKTL2, LINC00290, FAT1, LINC01596, AGA, AGA-DT, FGF2, LINC02377, PDGFC, FLJ38576, SAP30-DT, GALNTL6, NPY1R, LOC121056748, LINC02427, PLK4, KIAA1109, LINC02615, SLC7A11, SCLT1, LINC01256, ZNF827, C4orf45, FGG, NDUFC1, LOC110121129, GASK1B, TRIML1, LOC114004384, MIR578, GRIA2, LINC01095, C4orf33, ASIC5, MIR3688-1, LSM6, SORBS2, PPID, LINC02233, LINC01099, LOC101927636, TMEM184C, HELT, LINC02273, LOC339975, GAB1, ARHGAP10, BBS7, NAA15, LINC02433, LOC111556115, SAP30, LOC121056742, LOC101928052, LINC01091, RPS3A, LOC121056745, MIR4453HG, LINC02436, LOC110121159, LOC101927516, LOC110121150, SCRG1, ABCE1, IL15, LINC02362, LINC02174, MGAT4D, LINC02515, MIR548T, FHDC1, SMARCA5-AS1, NPY5R, JADE1, ENPP6, RNF150, SNORD73A, CCDC110, LOC105377622, LINC02276, LOC114827833, CLDN22, LINC01098, GK3P, MARCHF1, LOC110120796, LOC121056746, MIR4453, KLHL2, GPM6A, HPGD, SPATA4, CFAP97, RAPGEF2, MIR4799, USP38, LOC121056753, LINC00499, C4orf46, PLRG1, GYPA, MAP9, OTUD4, IL21, HHIP-AS1, LINC02266, WDR17, SNHG27, LOC112939919, GLRA3, LOC112939927, FAT4, ARFIP1, SH3D19, AADAT, ABHD18, LINC02492, SPOCK3, LOC121056755, SPCS3, LINC02514, LOC111413027, TLL1, MND1, RAB33B, TMEM131L, LOC105377458, MIR4454, LINC01060, BBS12, LOC110121190, FGB, LINC02269, CENPU, GASK1B-AS1, PDLIM3, LRBA, FAM149A, TLR3, LINC02374, LINC02516, LINC00616, LINC02172, LOC108281188
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058043
3.
GRCh37:
Chr4:132906408-190828225
GRCh38:
Chr4:131985253-190095391
AADAT, ABCE1, ACSL1, ADAM29, AGA, AGA-DT, ANAPC10, ANKRD37, ANP32C, ANXA10, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, CYP4V2, DBET, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FLJ38576, FNIP2, FREM3, FRG1, FRG1-DT, FRG2, FSTL5, GAB1, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, GK3P, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, HAND2, HAND2-AS1, HELT, HHIP, HHIP-AS1, HMGB2, HPF1, HPGD, IL15, ING2, ING2-DT, INPP4B, IQCM, IRF2, KLHL2, KLKB1, LINC00290, LINC00498, LINC00499, LINC00613, LINC00616, LINC01060, LINC01093, LINC01095, LINC01098, LINC01099, LINC01179, LINC01256, LINC01262, LINC01596, LINC01612, LINC02172, LINC02174, LINC02233, LINC02266, LINC02268, LINC02269, LINC02273, LINC02275, LINC02276, LINC02355, LINC02362, LINC02363, LINC02365, LINC02374, LINC02382, LINC02427, LINC02431, LINC02432, LINC02433, LINC02434, LINC02436, LINC02462, LINC02485, LINC02491, LINC02492, LINC02500, LINC02504, LINC02507, LINC02508, LINC02509, LINC02510, LINC02511, LINC02514, LINC02515, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC102724776, LOC105377448, LOC105377458, LOC105377480, LOC105377590, LOC105377622, LOC105377623, LOC107992388, LOC108281188, LOC108281192, LOC110120796, LOC110120799, LOC110121078, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111556115, LOC112939918, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158508, LOC116158509, LOC116158510, LOC121056743, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAML3, MAP9, MARCHF1, MFAP3L, MGARP, MGAT4D, MGST2, MIR1305, MIR3139, MIR3140, MIR3688-1, MIR3688-2, MIR3945, MIR3945HG, MIR4276, MIR4453, MIR4453HG, MIR4454, MIR4455, MIR4799, MIR548G, MIR548T, MIR578, MIR6082, MIR7849, MMAA, MND1, MSMO1, MTNR1A, NAA15, NAF1, NDUFC1, NEIL3, NEK1, NOCT, NPY1R, NPY2R, NPY5R, NR3C2, OTUD4, PABPC4L, PALLD, PCDH10, PCDH10-DT, PCDH18, PDGFC, PDLIM3, PLRG1, POU4F2, PPID, PRIMPOL, PRMT9, PRSS48, QKILA, RAB33B, RAB33B-AS1, RAPGEF2, RBM46, REELD1, RNF150, RNF175, RPS3A, RWDD4, RXFP1, SAP30, SAP30-DT, SCOC, SCOC-AS1, SCRG1, SETD7, SFRP2, SH3D19, SH3RF1, SLC10A7, SLC25A4, SLC7A11, SLC7A11-AS1, SMAD1, SMAD1-AS1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMIM31, SNORD73A, SNORD73B, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, STOX2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM192, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, TTC29, UCP1, UFSP2, USP38, USP38-DT, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42, ZNF330, ZNF827
See casesPathogenic
(Aug 29, 2011)
no assertion criteria providedVCV000148653
4.
GRCh37:
Chr4:135856771-190957473
GRCh38:
Chr4:134935616-190036318
AADAT, ABCE1, ACSL1, ADAM29, AGA, AGA-DT, ANAPC10, ANKRD37, ANP32C, ANXA10, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, CYP4V2, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FLJ38576, FNIP2, FREM3, FRG1, FRG1-DT, FRG2, FSTL5, GAB1, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, GK3P, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, HAND2, HAND2-AS1, HELT, HHIP, HHIP-AS1, HMGB2, HPF1, HPGD, IL15, ING2, ING2-DT, INPP4B, IQCM, IRF2, KLHL2, KLKB1, LINC00290, LINC00498, LINC00499, LINC00613, LINC00616, LINC01060, LINC01093, LINC01095, LINC01098, LINC01099, LINC01179, LINC01262, LINC01596, LINC01612, LINC02172, LINC02174, LINC02233, LINC02266, LINC02268, LINC02269, LINC02273, LINC02275, LINC02276, LINC02355, LINC02362, LINC02363, LINC02365, LINC02374, LINC02382, LINC02427, LINC02431, LINC02432, LINC02433, LINC02434, LINC02436, LINC02485, LINC02491, LINC02492, LINC02500, LINC02504, LINC02507, LINC02508, LINC02509, LINC02510, LINC02511, LINC02514, LINC02515, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC102724776, LOC105377448, LOC105377458, LOC105377480, LOC105377590, LOC105377622, LOC105377623, LOC107992388, LOC108281188, LOC108281192, LOC110120796, LOC110120799, LOC110121078, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111556115, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158508, LOC116158509, LOC116158510, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAML3, MAP9, MARCHF1, MFAP3L, MGARP, MGAT4D, MGST2, MIR1305, MIR3139, MIR3140, MIR3688-1, MIR3688-2, MIR3945, MIR3945HG, MIR4276, MIR4453, MIR4453HG, MIR4454, MIR4455, MIR4799, MIR548G, MIR548T, MIR578, MIR6082, MIR7849, MMAA, MND1, MSMO1, MTNR1A, NAA15, NAF1, NDUFC1, NEIL3, NEK1, NOCT, NPY1R, NPY2R, NPY5R, NR3C2, OTUD4, PALLD, PCDH18, PDGFC, PDLIM3, PLRG1, POU4F2, PPID, PRIMPOL, PRMT9, PRSS48, QKILA, RAB33B, RAB33B-AS1, RAPGEF2, RBM46, REELD1, RNF150, RNF175, RPS3A, RWDD4, RXFP1, SAP30, SAP30-DT, SCOC, SCOC-AS1, SCRG1, SETD7, SFRP2, SH3D19, SH3RF1, SLC10A7, SLC25A4, SLC7A11, SLC7A11-AS1, SMAD1, SMAD1-AS1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMIM31, SNORD73A, SNORD73B, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, STOX2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM192, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, TTC29, UCP1, UFSP2, USP38, USP38-DT, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42, ZNF330, ZNF827
See casesPathogenic
(Aug 19, 2013)
no assertion criteria providedVCV000155492
5.
GRCh37:
Chr4:139431686-190828225
GRCh38:
Chr4:138510532-189963195
AADAT, ABCE1, ACSL1, ADAM29, AGA, AGA-DT, ANAPC10, ANKRD37, ANP32C, ANXA10, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, CYP4V2, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FLJ38576, FNIP2, FREM3, FRG1, FRG1-DT, FSTL5, GAB1, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, GK3P, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, HAND2, HAND2-AS1, HELT, HHIP, HHIP-AS1, HMGB2, HPF1, HPGD, IL15, ING2, ING2-DT, INPP4B, IQCM, IRF2, KLHL2, KLKB1, LINC00290, LINC01060, LINC01093, LINC01095, LINC01098, LINC01099, LINC01179, LINC01262, LINC01596, LINC01612, LINC02174, LINC02233, LINC02266, LINC02268, LINC02269, LINC02273, LINC02275, LINC02276, LINC02355, LINC02362, LINC02363, LINC02365, LINC02374, LINC02382, LINC02427, LINC02431, LINC02432, LINC02433, LINC02434, LINC02436, LINC02491, LINC02492, LINC02500, LINC02504, LINC02507, LINC02508, LINC02509, LINC02514, LINC02515, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC102724776, LOC105377448, LOC105377458, LOC105377480, LOC105377590, LOC105377622, LOC105377623, LOC107992388, LOC108281188, LOC108281192, LOC110120796, LOC110120799, LOC110121078, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111556115, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158508, LOC116158509, LOC116158510, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAML3, MAP9, MARCHF1, MFAP3L, MGARP, MGAT4D, MGST2, MIR1305, MIR3139, MIR3140, MIR3688-1, MIR3688-2, MIR3945, MIR3945HG, MIR4276, MIR4453, MIR4453HG, MIR4454, MIR4455, MIR4799, MIR548G, MIR548T, MIR578, MIR6082, MIR7849, MMAA, MND1, MSMO1, MTNR1A, NAA15, NAF1, NDUFC1, NEIL3, NEK1, NOCT, NPY1R, NPY2R, NPY5R, NR3C2, OTUD4, PALLD, PDGFC, PDLIM3, PLRG1, POU4F2, PPID, PRIMPOL, PRMT9, PRSS48, QKILA, RAB33B, RAB33B-AS1, RAPGEF2, RBM46, REELD1, RNF150, RNF175, RPS3A, RWDD4, RXFP1, SAP30, SAP30-DT, SCOC, SCOC-AS1, SCRG1, SETD7, SFRP2, SH3D19, SH3RF1, SLC10A7, SLC25A4, SMAD1, SMAD1-AS1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMIM31, SNORD73A, SNORD73B, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, STOX2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM192, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, TTC29, UCP1, UFSP2, USP38, USP38-DT, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42, ZNF330, ZNF827
See casesPathogenic
(Oct 14, 2010)
no assertion criteria providedVCV000147647
6.
GRCh37:
Chr4:145963820-190828225
GRCh38:
Chr4:145042668-189975519
LINC02492, LINC02500, LINC02504, LINC02507, LINC02508, LINC02509, LINC02514, LINC02515, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC102724776, LOC105377480, LOC105377590, LOC107992388, LOC108281188, LOC108281192, LOC110120796, LOC110121078, LOC110121159, LOC110121190, LOC110121259, LOC111556115, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158509, LOC116158510, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAP9, MARCHF1, MFAP3L, MIR1305, MIR3140, MIR3688-1, MIR3688-2, MIR3945, MIR3945HG, MIR4276, MIR4453, MIR4453HG, MIR4454, MIR4455, MIR4799, MIR548G, MIR548T, MIR578, MIR6082, MIR7849, MMAA, MND1, MSMO1, MTNR1A, NAF1, NEIL3, NEK1, NPY1R, NPY2R, NPY5R, NR3C2, OTUD4, PALLD, PDGFC, PDLIM3, PLRG1, POU4F2, PPID, PRIMPOL, PRMT9, PRSS48, RAPGEF2, RBM46, REELD1, RNF175, RPS3A, RWDD4, RXFP1, SAP30, SAP30-DT, SCRG1, SFRP2, SH3D19, SH3RF1, SLC10A7, SLC25A4, SMAD1, SMAD1-AS1, SMAD1-AS2, SMIM31, SNORD73A, SNORD73B, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, STOX2, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM192, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, TTC29, UFSP2, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42, ZNF827, AADAT, ABCE1, ACSL1, ADAM29, AGA, AGA-DT, ANAPC10, ANKRD37, ANP32C, ANXA10, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CPE, CTSO, CYP4V2, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ENPP6, ETFDH, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FLJ38576, FNIP2, FRG1, FRG1-DT, FSTL5, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, GK3P, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, HAND2, HAND2-AS1, HELT, HMGB2, HPF1, HPGD, ING2, ING2-DT, IQCM, IRF2, KLHL2, KLKB1, LINC00290, LINC01060, LINC01093, LINC01095, LINC01098, LINC01099, LINC01179, LINC01262, LINC01596, LINC01612, LINC02174, LINC02233, LINC02266, LINC02268, LINC02269, LINC02273, LINC02275, LINC02355, LINC02362, LINC02363, LINC02365, LINC02374, LINC02382, LINC02427, LINC02431, LINC02433, LINC02434, LINC02436, LINC02491
See casesPathogenic
(Oct 19, 2010)
no assertion criteria providedVCV000146581
7.
GRCh37:
Chr4:161678851-191012562
GRCh38:
Chr4:160757699-190091407
AADAT, ACSL1, ADAM29, AGA, AGA-DT, ANKRD37, ANP32C, ANXA10, APELA, ASB5, C4orf47, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CPE, CYP4V2, DBET, DCTD, DDX60, DDX60L, ENPP6, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FLJ38576, FRG1, FRG1-DT, FRG2, FSTL5, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GK3P, GLRA3, GPM6A, GPM6A-DT, HAND2, HAND2-AS1, HELT, HMGB2, HPF1, HPGD, ING2, ING2-DT, IRF2, KLHL2, KLKB1, LINC00290, LINC01060, LINC01093, LINC01098, LINC01099, LINC01179, LINC01262, LINC01596, LINC01612, LINC02174, LINC02268, LINC02269, LINC02275, LINC02362, LINC02363, LINC02365, LINC02374, LINC02382, LINC02427, LINC02431, LINC02434, LINC02436, LINC02492, LINC02500, LINC02504, LINC02508, LINC02509, LINC02514, LINC02515, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC105377590, LOC107992388, LOC108281192, LOC110120796, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827833, LOC114827834, LOC116158509, LOC116158510, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC339975, LOC441052, LRP2BP, MARCHF1, MFAP3L, MIR1305, MIR3945, MIR3945HG, MIR4276, MIR4454, MIR4455, MIR548T, MIR578, MIR6082, MSMO1, MTNR1A, NAF1, NEIL3, NEK1, NPY1R, NPY5R, PALLD, PDLIM3, PRIMPOL, RWDD4, SAP30, SAP30-DT, SCRG1, SH3RF1, SLC25A4, SMIM31, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, STOX2, TEMN3-AS1, TENM3, TENM3-AS1, TKTL2, TLL1, TLR3, TMA16, TMEM192, TRAPPC11, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, UFSP2, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000152441
8.
GRCh37:
Chr4:162934372-190828225
GRCh38:
Chr4:162013220-189975519
FAT1, CEP44, LOC121056754, LINC02269, MIR3945, CBR4, LOC105377590, LINC02382, TEMN3-AS1, KLHL2, F11-AS1, LRP2BP, AADAT, TRIM75, CCDC110, SORBS2, WWC2-AS2, MIR3945HG, LOC112939927, LINC02174, LOC121056752, STOX2, TMA16, SAP30-DT, LINC02508, SAP30, TRIML1, TRIM61, SPCS3, CDKN2AIP, LOC114827833, KLKB1, ING2-DT, GLRA3, CASP3, NEIL3, TENM3-AS1, FAM218A, GALNT7-DT, C4orf47, SPOCK3, SMIM31, LINC01612, FBXO8, LOC110120796, LINC01098, MIR4454, TENM3, HELT, LOC116158510, LINC02431, DDX60, ING2, ZFP42, LINC01262, HPGD, PALLD, CYP4V2, GALNT7, WWC2, ANXA10, ANKRD37, MARCHF1, LINC01179, SPATA4, CLDN24, LINC02365, SNX25, MIR6082, LOC121056750, LOC121056748, FRG1-DT, LOC121056755, F11, SCRG1, ANP32C, LOC101928198, APELA, WWC2-AS1, ASB5, LOC121056753, LINC02275, LINC02509, LOC112939926, LINC01060, VEGFC, SLC25A4, LOC108281192, TLL1, LOC101928551, MIR578, ADAM29, HPF1, FAM149A, FSTL5, LOC112939922, LINC02436, HAND2, LOC441052, WDR17, LINC01099, LINC02492, GPM6A-DT, LOC101928131, LINC01596, UFSP2, MFAP3L, PDLIM3, GPM6A, LOC121056751, LINC02434, LINC02500, LINC02427, CLDN22, GALNTL6-AS1, NPY5R, HAND2-AS1, FRG1, GK3P, MTNR1A, LOC107992388, LINC02268, TMEM192, NEK1, LOC116158509, PRIMPOL, LOC112939923, LOC114004384, MSMO1, AGA, LINC02515, MIR4276, IRF2, FLJ38576, LINC02514, AGA-DT, HMGB2, LINC01093, DCTD, TLR3, LINC02374, TRIML2, MIR1305, MIR4455, TKTL2, LINC02362, CPE, GALNTL6, DDX60L, LOC121056749, ACSL1, CLCN3, LOC339975, SH3RF1, CENPU, LINC02504, LOC114827834, NAF1, MIR548T, TRAPPC11, NPY1R, RWDD4, LINC00290, CFAP97, ENPP6, LINC02363, TRIM60, LOC101928052
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057053
9.
GRCh37:
Chr4:164960682-190828225
GRCh38:
Chr4:164039530-189982708
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059505
10.
GRCh37:
Chr4:166202188-190939340
GRCh38:
Chr4:165281036-190018185
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151716
11.
GRCh37:
Chr4:167238739-190828225
GRCh38:
Chr4:166317587-190095391
See casesPathogenic
(May 27, 2011)
no assertion criteria providedVCV000148458
12.
GRCh37:
Chr4:168294867-190957473
GRCh38:
Chr4:167373716-190036318
See casesPathogenic
(Aug 2, 2013)
no assertion criteria providedVCV000153653
13.
GRCh37:
Chr4:169040468-190828225
GRCh38:
Chr4:168119317-190095391
See casesPathogenic
(Jan 9, 2013)
no assertion criteria providedVCV000155264
14.
GRCh37:
Chr4:169891551-187857892
GRCh38:
Chr4:168970400-186936738
See casesPathogenicno assertion criteria providedVCV000154300
15.
GRCh37:
Chr4:170794659-190939340
GRCh38:
Chr4:169873508-190018185
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151692
16.
GRCh37:
Chr4:170822356-190828225
GRCh38:
Chr4:169901205-190095391
See casesUncertain significance
(Aug 2, 2012)
no assertion criteria providedVCV000149543
17.
GRCh37:
Chr4:171820275-190957473
GRCh38:
Chr4:170899124-190036318
See casesPathogenic
(Mar 4, 2013)
no assertion criteria providedVCV000155165
18.
GRCh37:
Chr4:172428855-190790881
GRCh38:
Chr4:171507704-189869726
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059507
19.
GRCh37:
Chr4:173121379-190828225
GRCh38:
Chr4:172200228-189975519
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058061
20.
GRCh37:
Chr4:173278139-190828225
GRCh38:
Chr4:172356988-189975519
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059510
21.
GRCh37:
Chr4:173422525-190828225
GRCh38:
Chr4:172501374-190095332
See casesPathogenic
(Jan 21, 2013)
no assertion criteria providedVCV000155012
22.
GRCh37:
Chr4:174521062-189545485
GRCh38:
Chr4:173599911-188624331
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057133
23.
GRCh37:
Chr4:174675826-190264449
GRCh38:
Chr4:173754675-189343295
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059511
24.
GRCh37:
Chr4:174775711-190469337
GRCh38:
Chr4:173854560-189548183
See casesPathogenic
(Feb 11, 2011)
no assertion criteria providedVCV000146879
25.
GRCh37:
Chr4:174910180-190828225
GRCh38:
Chr4:173989029-189975519
See casesPathogenic
(Feb 4, 2013)
no assertion criteria providedVCV000152991
26.
GRCh37:
Chr4:176404834-190828225
GRCh38:
Chr4:175483683-189975519
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057505
27.
GRCh37:
Chr4:177677786-190543118
GRCh38:
Chr4:176756632-189621964
See casesLikely pathogenic
(Oct 22, 2013)
no assertion criteria providedVCV000155559
28.
GRCh37:
Chr4:178363923-190828225
GRCh38:
Chr4:177442769-190042639
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059532
29.
GRCh37:
Chr4:178907110-190828225
GRCh38:
Chr4:177985956-189975519
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000148007
30.
GRCh37:
Chr4:178935724-190828225
GRCh38:
Chr4:178014570-190095391
See casesPathogenic
(Apr 8, 2011)
no assertion criteria providedVCV000148268
31.
GRCh37:
Chr4:179470626-190828225
GRCh38:
Chr4:178549472-190095391
See casesPathogenic
(Mar 21, 2011)
no assertion criteria providedVCV000148187
32.
GRCh37:
Chr4:180216665-190957473
GRCh38:
Chr4:179295511-190036318
See casesPathogenic
(Apr 2, 2013)
no assertion criteria providedVCV000151757
33.
GRCh37:
Chr4:180590625-190828225
GRCh38:
Chr4:179669472-189975660
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059533
34.
GRCh37:
Chr4:180867221-190469337
GRCh38:
Chr4:179946068-189548183
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058062
35.
GRCh37:
Chr4:181372805-190828225
GRCh38:
Chr4:180451652-190095391
See casesLikely pathogenic
(Aug 5, 2011)
no assertion criteria providedVCV000146393
36.
GRCh37:
Chr4:181496115-190828225
GRCh38:
Chr4:180574962-190095391
See casesPathogenic
(Apr 8, 2011)
no assertion criteria providedVCV000148270
37.
GRCh37:
Chr4:181639003-190828225
GRCh38:
Chr4:180717850-190095391