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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr4:118986724-190828225
GRCh38:
Chr4:118065569-190042639
SPATA4, DCTD, LOC121725182, LOC110120799, APELA, LOC121056750, ADAM29, LOC121725190, SCLT1, WWC2-AS2, LOC112939927, CBR4, LOC339975, OTUD4, LOC110121089, MIR548T, SNX25, LOC105377623, LINC02427, MAD2L1, LOC105377590, QRFPR, GRIA2, FAM149A, LOC105377622, METTL14-DT, LINC00499, RWDD4, NPY5R, FABP2, NDST3, LINC02466, FLJ38576, LOC110121190, USP53, MIR548G, LINC02500, LRBA, SMAD1-AS2, SCRG1, AADAT, SNORD73B, HSPA4L, GYPE, CFAP97, TRIML1, HELT, LINC01099, LINC02516, CLGN, WWC2, IRF2, TRIM75, NR3C2, CYP4V2, LOC111413027, NEK1, LINC02434, PABPC4L, SLC7A11-AS1, WDR17, LOC121725194, GALNTL6-AS1, PRSS12, MIR4453, RBM46, POU4F2, NDNF-AS1, LOC101928052, GLRB, LOC107986192, LOC112935979, MIR578, FHIP1A, AGA, ING2-DT, TRIM2, ADAD1, PP12613, MAD2L1-DT, ARHGAP10, LOC121056752, MIR3688-1, CCNA2, MGST2, LOC107992388, SAP30-DT, MIR6082, LOC116158508, UFSP2, IQCM, LINC02479, RAPGEF2, LINC02615, MIR1305, LOC110121159, TKTL2, PDLIM3, LOC121056743, LOC121056746, LINC01596, RAB33B-AS1, CCDC110, LINC02431, LINC02377, GALNT7, LOC121056745, LOC101927516, LOC116158510, NAF1, SH3D19, LINC02363, NAA15, CTSO, IL2, IL15, METTL14, LINC02465, F11-AS1, LINC02515, USP38-DT, GASK1B-AS1, ANXA5, TMEM154, TMEM144, TDO2, TBC1D9, FGG, VEGFC, HPGD, LOC121725186, LOC102724776, C4orf46, LINC02268, LRAT, LOC112935977, LOC101928551, SNORD73A, PALLD, KLKB1, LINC01093, LOC112939921, LOC112935978, MAB21L2, BBS7, NEIL3, ELF2, TMEM192, CLDN24, MIR4276, SLC25A4, LINC01091, LOC101928198, TMEM184C, LOC441052, SAP30, LOC121056753, CASP3, MFAP3L, FAT4, LOC116158509, LOC110121259, USP38, GATB, TLR3, NOCT, LINC02382, LARP1B, LOC105377448, LINC02266, C4orf3, LOC110121129, SPOCK3, MTNR1A, LINC02491, INPP4B, QKILA, FNIP2, SNHG8, LINC00290, NUDT6, MIR3139, MIR3688-2, LOC114827833, NDNF, LOC121725183, TRIM61, SMARCA5, DDX60, LINC02509, LOC108281188, PRSS48, RPS3A, SLC7A11, MGARP, LOC121056751, LINC02462, TRPC3, NPY2R, TLR2, MND1, MIR4453HG, SCOC, ETFDH, LOC109113863, LINC02432, HHIP, LINC02514, CDKN2AIP, ARFIP1, ACSL1, LINC02436, PCDH10-DT, MAML3, LINC02276, ASIC5, JADE1, LINC01098, GPM6A-DT, MIR3140, ENPP6, LOC114827834, FBXW7-AS1, ANKRD37, LINC02485, LOC121056747, SMAD1-AS1, SNHG27, NPY1R, LOC112939919, FSTL5, LINC01256, ANAPC10, CLDN22, HHIP-AS1, LINC02379, MIR4454, LOC121056754, LOC121056748, ANP32C, LINC00616, LOC110121150, MIR4455, LOC112935980, F11, LINC01179, LOC101929762, ANKRD50, LINC02433, FRG1, RXFP1, C4orf51, LOC121056742, SPATA5, LOC105377458, LINC02511, NDUFC1, LOC121056741, SMARCA5-AS1, LOC121725193, LOC112939918, LOC111413048, PLK4, LINC00613, LRP2BP, LINC01060, LOC121056755, HAND2, GK3P, FAT1, LOC121725188, PPID, LOC114827822, TENM3-AS1, GYPB, FHDC1, GUCY1B1, BBS12, LOC112939920, LINC02502, LINC02492, RNF150, ASB5, GYPA, TEMN3-AS1, PCDH10, MARCHF1, LINC02504, LOC121725187, SMAD1, DCHS2, LOC101928131, SLC25A31, ELMOD2, SLC10A7, TENM3, FAM218A, LINC02362, LOC729558, CENPU, LOC108281192, TMA16, LINC01612, TIGD4, FRG2, ZFP42, MIR3945, ZNF827, LSM6, LINC02269, LOC121725196, TTC29, SCOC-AS1, C4orf45, SNORA24, LINC00498, GALNT7-DT, LINC02273, UCP1, LOC121725191, LINC02374, LOC101927636, SORBS2, INTU, LINC02507, PDE5A, LOC121725185, MIR4799, LOC112939926, SMIM43, LINC02174, LOC121725189, MFSD8, PLRG1, MIR3945HG, SYNPO2, EDNRA, HPF1, CEP44, ABHD18, ANXA10, MIR2054, LOC112939923, FRG1-DT, TRIML2, ZNF330, LINC02355, IL21, LOC121056744, LOC121725195, LOC110120796, FBXW7, EXOSC9, SPRY1, C4orf47, MGAT4D, PRMT9, RNF175, TRAPPC11, FBXO8, PCDH18, PRIMPOL, LINC01061, LOC112939922, MIR7849, GALNTL6, GASK1B, LINC02508, LINC02510, FGF2, TLL1, DDX60L, FREM3, ABCE1, TMEM131L, TRIM60, IL21-AS1, LINC01095, AGA-DT, FHIP1A-DT, LINC02233, LINC01365, MYOZ2, LINC02172, HMGB2, LOC121725192, STOX2, MMAA, ING2, LINC02275, RAB33B, FGB, LOC116158507, GUCY1A1, LOC105377480, PDGFC, LOC114004384, SETD7, PRDM5, MAP9, LOC111556115, TNIP3, SPCS3, LOC121056749, SEC24D, CPE, LOC110121078, LOC729870, LINC01262, KIAA1109, SFRP2, FGA, GPM6A, PGRMC2, SH3RF1, WWC2-AS1, MSMO1, LINC02365, CLCN3, KLHL2, TRC-GCA2-1, GAB1, C4orf33, SMIM31, GLRA3, REELD1, HAND2-AS1, DCLK2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058042
2.
GRCh37:
Chr4:122439378-190828225
GRCh38:
Chr4:121518223-190062270
PP12613, HHIP, TKTL2, LINC02511, LINC00290, TRIM60, FAT1, LINC01596, LOC108281188, LOC101928052, LINC02516, LINC00616, GASK1B-AS1, HMGB2, TRC-GCA2-1, LINC00613, FBXW7-AS1, LRP2BP, IQCM, LINC02508, FGB, SFRP2, LINC02374, SAP30, LOC121056742, LOC121725190, PCDH10, LINC02500, LINC02382, LOC121056743, MFSD8, GUCY1A1, TMA16, BBS12, LOC110121190, MIR3140, LOC121056745, PGRMC2, LRBA, NEK1, LOC121056751, F11-AS1, GATB, TLR2, SLC7A11-AS1, SCOC, SPATA5, LINC02504, LINC02433, LOC111556115, ZFP42, LINC02465, SH3RF1, CPE, MIR4276, TTC29, LARP1B, TIGD4, GALNTL6-AS1, PRMT9, LOC101928198, CBR4, SCOC-AS1, SPOCK3, LOC114827822, FAM149A, TLR3, LOC107992388, SMAD1, LRAT, EXOSC9, FSTL5, SNX25, LOC112939918, GLRA3, LOC112939927, FAT4, BBS7, NAA15, LINC02492, ELF2, NR3C2, FNIP2, WWC2-AS2, GPM6A-DT, LOC116158508, MND1, RAB33B, STOX2, HAND2-AS1, FRG1-DT, LINC02507, LOC110121078, LINC02434, GYPB, FBXO8, LINC02268, ELMOD2, LOC441052, GPM6A, HPGD, LINC02479, LOC116158507, LOC114004384, DCLK2, LOC121725185, SETD7, LOC112935980, HHIP-AS1, ANXA10, UCP1, CDKN2AIP, TRAPPC11, RXFP1, LOC121725191, LOC121056753, LINC00499, OTUD4, IL21, LINC02266, SPATA4, CFAP97, VEGFC, LINC01095, PRSS48, SLC25A31, PCDH18, GASK1B, TRIML1, MIR4799, MIR578, GRIA2, C4orf33, ASIC5, LOC110120799, SMIM43, MIR2054, IL2, ANAPC10, TEMN3-AS1, LOC112939919, FREM3, MAML3, AADAT, ABHD18, LOC121725193, LOC111413027, TLL1, LINC01060, SMARCA5, TMEM184C, HELT, LOC339975, GAB1, ARHGAP10, MIR3688-1, LOC121725195, LSM6, LOC116158510, QKILA, TMEM131L, LOC105377458, MIR4454, LOC121725187, SORBS2, LOC729558, IL21-AS1, LOC729870, LOC101927636, LINC02510, C4orf47, LINC01179, LOC101928131, CASP3, LOC121725189, LINC02233, LINC01099, PPID, LOC105377448, TRIM75, LINC02365, LOC121725188, LOC121056750, C4orf51, ING2, TENM3-AS1, TMEM154, NPY2R, PALLD, LINC02269, CENPU, LINC02172, PDLIM3, LINC02273, AGA, AGA-DT, FGF2, LOC121725194, LINC02377, PDGFC, FLJ38576, SMIM31, RWDD4, NOCT, WDR17, SNHG27, ARFIP1, SH3D19, NAF1, SLC7A11, SCLT1, MIR4453, KLHL2, POU4F2, MIR4455, EDNRA, MIR3139, LOC111413048, RAB33B-AS1, TENM3, LOC114827833, CLDN22, MIR7849, LINC01098, GK3P, LOC110120796, LOC121056746, SAP30-DT, GALNTL6, RAPGEF2, UFSP2, LOC121056749, LINC02432, LINC02514, LOC121056755, SPCS3, LINC01256, SMAD1-AS1, LINC02363, LOC112935979, PCDH10-DT, LOC105377590, LOC102724776, LINC00498, TMEM192, APELA, ZNF827, LOC112939920, MIR548G, DCHS2, GALNT7, TRIML2, ING2-DT, USP38, LINC01093, ANP32C, PLRG1, MAP9, SNORD73B, MIR6082, RNF175, SLC10A7, NEIL3, FHIP1A-DT, LINC02427, C4orf46, KIAA1109, LINC02615, GYPA, CCDC110, LOC105377622, LINC02276, MARCHF1, NPY1R, LOC121056748, PLK4, LOC121056752, LOC112935978, HAND2, TRIM2, ANKRD50, MAB21L2, CLCN3, LINC02491, SNORD73A, C4orf45, NDUFC1, LOC110121129, LINC01612, MGST2, LOC105377480, LOC105377623, FGG, DCTD, ADAD1, FBXW7, CTSO, CCNA2, LOC114827834, LOC121725192, INTU, ANKRD37, PABPC4L, LOC121056747, LOC109113863, ANXA5, MIR3945HG, LOC116158509, SLC25A4, WWC2, HSPA4L, LOC112939922, LOC121056754, HPF1, LINC02436, LOC121725196, LOC112939926, LOC101927516, CYP4V2, RPS3A, MIR4453HG, LOC112939921, TBC1D9, CLDN24, GYPE, LOC101928551, LINC02355, LINC02431, MGARP, LINC01091, CEP44, FGA, IRF2, ETFDH, USP38-DT, LINC02509, ADAM29, ACSL1, LOC110121159, SMAD1-AS2, LOC110121150, ABCE1, SCRG1, SPRY1, GALNT7-DT, LOC112939923, REELD1, LOC121056744, PRIMPOL, DDX60, MIR548T, FHDC1, LOC110121259, LINC02485, MIR1305, TRIM61, FRG1, TDO2, KLKB1, IL15, LINC02362, MGAT4D, LINC02174, LINC02379, LINC02275, GUCY1B1, INPP4B, LINC02515, SMARCA5-AS1, NPY5R, JADE1, FRG2, MIR3688-2, RBM46, MMAA, ZNF330, LINC02466, MTNR1A, ASB5, LINC01262, WWC2-AS1, FHIP1A, MIR3945, LINC02462, TMEM144, MFAP3L, CLGN, FAM218A, TRPC3, DDX60L, LOC108281192, GLRB, LOC121725186, NUDT6, MSMO1, RNF150, LOC110121089, ENPP6, F11
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, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, 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
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, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, 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, 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
See casesPathogenic
(Aug 19, 2013)
no assertion criteria providedVCV000155492
5.
GRCh37:
Chr4:139431686-190828225
GRCh38:
Chr4:138510532-189963195
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, 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, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, 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
See casesPathogenic
(Oct 14, 2010)
no assertion criteria providedVCV000147647
6.
GRCh37:
Chr4:145963820-190828225
GRCh38:
Chr4:145042668-189975519
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, 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, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, 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
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, LOC121725193, LOC121725194, LOC121725195, LOC121725196, 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
CPE, SPCS3, MARCHF1, TRIM61, GALNTL6, ING2-DT, LOC121725196, LINC02434, GLRA3, MIR4455, LINC02500, LINC01179, SAP30, DDX60, LINC01060, MIR4454, F11-AS1, LINC01612, LOC110120796, APELA, MIR3945, SORBS2, LRP2BP, LOC121056754, FLJ38576, LOC112939926, SPOCK3, FAT1, TLL1, CBR4, WWC2-AS2, LINC01093, FSTL5, HPF1, LINC01262, LOC112939922, FAM149A, CASP3, MIR548T, MTNR1A, ANP32C, LINC02268, LOC114827834, LINC02504, SCRG1, LOC107992388, LINC02508, LOC101928131, LINC02427, CLDN22, LINC02362, CLDN24, PDLIM3, TRIML1, KLKB1, LINC01596, ANKRD37, TKTL2, LOC121725194, LINC02365, LOC114827833, UFSP2, LOC101928551, LINC02514, MIR4276, LINC02431, ASB5, LOC105377590, AGA-DT, LINC02269, CCDC110, LOC108281192, AADAT, LOC121056752, LOC112939927, LINC02436, LOC441052, HAND2, HPGD, NAF1, TMEM192, CENPU, ENPP6, TENM3-AS1, FAM218A, CFAP97, TRIM60, LINC00290, LOC101928052, LINC02515, NEIL3, GALNT7-DT, LINC02363, LOC121056751, MFAP3L, ACSL1, GALNTL6-AS1, LOC121056749, CDKN2AIP, SPATA4, GPM6A, DDX60L, LINC01098, KLHL2, HELT, LOC121056753, LINC02174, PALLD, DCTD, MIR3945HG, LINC01099, LINC02492, GPM6A-DT, TMA16, MIR1305, SAP30-DT, TRIML2, WWC2, ANXA10, NEK1, LOC101928198, MSMO1, LOC116158509, TRAPPC11, LOC112939923, RWDD4, NPY1R, PRIMPOL, AGA, LOC114004384, GK3P, SNX25, HAND2-AS1, CLCN3, FRG1, MIR6082, LOC339975, LOC121056755, F11, CEP44, LOC116158510, TEMN3-AS1, ADAM29, LINC02382, TRIM75, LINC02509, SMIM31, SLC25A4, WWC2-AS1, TENM3, VEGFC, MIR578, FBXO8, ING2, C4orf47, IRF2, LINC02275, GALNT7, LINC02374, CYP4V2, LOC121725195, STOX2, TLR3, WDR17, ZFP42, HMGB2, LOC121056748, LOC121056750, FRG1-DT, NPY5R, SH3RF1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057053
9.
GRCh37:
Chr4:164960682-190828225
GRCh38:
Chr4:164039530-189982708
LINC02362, LRP2BP, AGA, GPM6A-DT, TLL1, TRIM61, TLR3, TEMN3-AS1, CLDN22, LINC01060, AADAT, CLCN3, LOC101928198, SMIM31, LINC02509, LOC121056755, ACSL1, ADAM29, MIR1305, TRIM75, DDX60, MIR3945HG, LINC02436, FBXO8, APELA, TENM3, SAP30-DT, FRG1, ING2, F11-AS1, CDKN2AIP, LOC116158510, HAND2, LINC01099, ZFP42, CFAP97, LOC112939927, HMGB2, LINC02174, LOC108281192, LOC112939922, C4orf47, LOC112939923, NEIL3, CYP4V2, FAM218A, LOC101928551, TRIML2, HAND2-AS1, FAT1, WWC2-AS2, LINC02365, GALNTL6-AS1, GLRA3, LOC107992388, CENPU, RWDD4, LINC02492, DCTD, WWC2-AS1, LOC114004384, PDLIM3, MIR3945, MARCHF1, LINC02514, LOC121056749, LOC105377590, LOC121725195, CASP3, GK3P, LINC02374, LINC02427, FLJ38576, LOC441052, CLDN24, FAM149A, LOC121056751, SORBS2, LINC02515, PRIMPOL, LINC02275, TRAPPC11, LOC121725194, STOX2, SH3RF1, LOC110120796, CBR4, LOC339975, LINC02268, CPE, KLHL2, SPCS3, LINC02504, SPATA4, MFAP3L, WDR17, LINC02508, LOC121056750, HPF1, KLKB1, MSMO1, IRF2, SCRG1, MIR578, LINC01179, LINC01262, LINC02434, LINC02500, LINC01098, LINC00290, LOC101928131, MIR4455, ENPP6, LINC02269, LINC01612, LINC02382, GALNT7-DT, MTNR1A, AGA-DT, SPOCK3, NEK1, LOC121725196, VEGFC, LINC01596, TRIM60, SLC25A4, ANKRD37, WWC2, LOC114827834, ASB5, LOC121056753, GALNT7, LOC121056748, LOC114827833, F11, TRIML1, GALNTL6, HELT, ANP32C, FRG1-DT, CCDC110, TMEM192, TENM3-AS1, LINC02431, GPM6A, DDX60L, LOC112939926, CEP44, LOC121056752, SAP30, UFSP2, MIR548T, MIR4276, LOC121056754, SNX25, LINC01093, ING2-DT, MIR6082, HPGD, PALLD, ANXA10, LINC02363
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