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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr4:118986724-190828225
GRCh38:
Chr4:118065569-190042639
AADAT, ABCE1, ABHD18, ACSL1, ADAD1, ADAM29, AGA, AGA-DT, ANAPC10, ANKRD37, ANKRD50, ANP32C, ANXA10, ANXA5, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, BBS12, BBS7, C4orf3, C4orf33, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CCNA2, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, CYP4V2, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, EXOSC9, F11, F11-AS1, FABP2, FAM149A, FAM218A, FAT1, FAT4, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGF2, 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, HSPA4L, IL15, IL2, IL21, IL21-AS1, ING2, ING2-DT, INPP4B, INTU, IQCM, IRF2, JADE1, KIAA1109, KLHL2, KLKB1, LARP1B, LINC00290, LINC00498, LINC00499, LINC00613, LINC00616, LINC01060, LINC01061, LINC01091, LINC01093, LINC01095, LINC01098, LINC01099, LINC01179, LINC01256, LINC01262, LINC01365, LINC01596, LINC01612, LINC02172, LINC02174, LINC02233, LINC02266, LINC02268, LINC02269, LINC02273, LINC02275, LINC02276, LINC02355, LINC02362, LINC02363, LINC02365, LINC02374, LINC02377, LINC02379, LINC02382, LINC02427, LINC02431, LINC02432, LINC02433, LINC02434, LINC02436, LINC02462, LINC02465, LINC02466, LINC02479, LINC02485, LINC02491, LINC02492, LINC02500, LINC02502, LINC02504, LINC02507, LINC02508, LINC02509, LINC02510, LINC02511, LINC02514, LINC02515, LINC02516, LINC02615, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC101929762, LOC102724776, LOC105377448, LOC105377458, LOC105377480, LOC105377590, LOC105377622, LOC105377623, LOC107986192, LOC107992388, LOC108281188, LOC108281192, LOC109113863, LOC110120796, LOC110120799, LOC110121078, LOC110121089, LOC110121129, LOC110121150, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111413048, LOC111556115, LOC112935977, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158507, LOC116158508, LOC116158509, LOC116158510, LOC121056741, LOC121056742, LOC121056743, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAD2L1, MAD2L1-DT, MAML3, MAP9, MARCHF1, METTL14, METTL14-DT, MFAP3L, MFSD8, MGARP, MGAT4D, MGST2, MIR1305, MIR2054, MIR3139, MIR3140, MIR3688-1, MIR3688-2, MIR3945, MIR3945HG, MIR4276, MIR4453, MIR4453HG, MIR4454, MIR4455, MIR4799, MIR548G, MIR548T, MIR578, MIR6082, MIR7849, MMAA, MND1, MSMO1, MTNR1A, MYOZ2, NAA15, NAF1, NDNF, NDNF-AS1, NDST3, NDUFC1, NEIL3, NEK1, NOCT, NPY1R, NPY2R, NPY5R, NR3C2, NUDT6, OTUD4, PABPC4L, PALLD, PCDH10, PCDH10-DT, PCDH18, PDE5A, PDGFC, PDLIM3, PGRMC2, PLK4, PLRG1, POU4F2, PP12613, PPID, PRDM5, PRIMPOL, PRMT9, PRSS12, PRSS48, QRFPR, RAB33B, RAB33B-AS1, RAPGEF2, RBM46, REELD1, RNF150, RNF175, RPS3A, RWDD4, RXFP1, SAP30, SAP30-DT, SCLT1, SCOC, SCOC-AS1, SCRG1, SEC24D, SETD7, SFRP2, SH3D19, SH3RF1, SLC10A7, SLC25A31, SLC25A4, SLC7A11, SLC7A11-AS1, SMAD1, SMAD1-AS1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMIM31, SMIM43, SNHG27, SNHG8, SNORA24, SNORD73A, SNORD73B, SNX25, SORBS2, SPATA4, SPATA5, SPCS3, SPOCK3, SPRY1, STOX2, SYNPO2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM192, TNIP3, TRAPPC11, TRC-GCA2-1, TRIM2, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, TRPC3, TTC29, UCP1, UFSP2, USP38, USP38-DT, USP53, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42, ZNF330, ZNF827
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058042
2.
GRCh37:
Chr4:122439378-190828225
GRCh38:
Chr4:121518223-190062270
AADAT, ABCE1, ABHD18, ACSL1, ADAD1, ADAM29, AGA, AGA-DT, ANAPC10, ANKRD37, ANKRD50, ANP32C, ANXA10, ANXA5, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, BBS12, BBS7, C4orf33, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CCNA2, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, CYP4V2, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, EXOSC9, F11, F11-AS1, FAM149A, FAM218A, FAT1, FAT4, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGF2, 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, HSPA4L, IL15, IL2, IL21, IL21-AS1, ING2, ING2-DT, INPP4B, INTU, IQCM, IRF2, JADE1, KIAA1109, KLHL2, KLKB1, LARP1B, LINC00290, LINC00498, LINC00499, LINC00613, LINC00616, LINC01060, LINC01091, LINC01093, LINC01095, LINC01098, LINC01099, LINC01179, LINC01256, LINC01262, LINC01596, LINC01612, LINC02172, LINC02174, LINC02233, LINC02266, LINC02268, LINC02269, LINC02273, LINC02275, LINC02276, LINC02355, LINC02362, LINC02363, LINC02365, LINC02374, LINC02377, LINC02379, LINC02382, LINC02427, LINC02431, LINC02432, LINC02433, LINC02434, LINC02436, LINC02462, LINC02465, LINC02466, LINC02479, LINC02485, LINC02491, LINC02492, LINC02500, LINC02504, LINC02507, LINC02508, LINC02509, LINC02510, LINC02511, LINC02514, LINC02515, LINC02516, LINC02615, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC102724776, LOC105377448, LOC105377458, LOC105377480, LOC105377590, LOC105377622, LOC105377623, LOC107992388, LOC108281188, LOC108281192, LOC109113863, LOC110120796, LOC110120799, LOC110121078, LOC110121089, LOC110121129, LOC110121150, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111413048, LOC111556115, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158507, LOC116158508, LOC116158509, LOC116158510, LOC121056742, 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, MFSD8, MGARP, MGAT4D, MGST2, MIR1305, MIR2054, 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, NUDT6, OTUD4, PABPC4L, PALLD, PCDH10, PCDH10-DT, PCDH18, PDGFC, PDLIM3, PGRMC2, PLK4, PLRG1, POU4F2, PP12613, PPID, PRIMPOL, PRMT9, PRSS48, RAB33B, RAB33B-AS1, RAPGEF2, RBM46, REELD1, RNF150, RNF175, RPS3A, RWDD4, RXFP1, SAP30, SAP30-DT, SCLT1, SCOC, SCOC-AS1, SCRG1, SETD7, SFRP2, SH3D19, SH3RF1, SLC10A7, SLC25A31, SLC25A4, SLC7A11, SLC7A11-AS1, SMAD1, SMAD1-AS1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMIM31, SMIM43, SNHG27, SNORD73A, SNORD73B, SNX25, SORBS2, SPATA4, SPATA5, SPCS3, SPOCK3, SPRY1, STOX2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM192, TRAPPC11, TRC-GCA2-1, TRIM2, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, TRPC3, TTC29, UCP1, UFSP2, USP38, USP38-DT, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42, ZNF330, ZNF827
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058043
3.
GRCh37:
Chr4:126354098-186683041
GRCh38:
Chr4:125432943-185761887
AADAT, ABCE1, ABHD18, ACSL1, ADAM29, AGA, AGA-DT, ANAPC10, ANKRD37, ANP32C, ANXA10, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, C4orf33, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, FAM218A, FAT4, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FNIP2, FREM3, 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, HSPA4L, IL15, ING2, ING2-DT, INPP4B, INTU, IQCM, IRF2, JADE1, KLHL2, LARP1B, LINC00290, LINC00498, LINC00499, LINC00613, LINC00616, LINC01093, LINC01095, LINC01098, LINC01099, LINC01179, LINC01256, LINC01612, LINC02172, LINC02174, LINC02233, LINC02266, LINC02268, LINC02269, LINC02273, LINC02275, LINC02276, LINC02355, LINC02362, LINC02363, LINC02365, LINC02377, LINC02379, LINC02382, LINC02427, LINC02431, LINC02432, LINC02433, LINC02436, LINC02462, LINC02465, LINC02466, LINC02479, LINC02485, LINC02491, LINC02500, LINC02504, LINC02507, LINC02509, LINC02510, LINC02511, LINC02615, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC102724776, LOC105377448, LOC105377458, LOC105377480, LOC105377590, LOC105377622, LOC105377623, LOC107992388, LOC108281188, LOC108281192, LOC110120796, LOC110120799, LOC110121078, LOC110121089, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111413048, 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, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAML3, MAP9, MARCHF1, MFAP3L, MFSD8, MGARP, MGAT4D, MGST2, MIR1305, MIR2054, MIR3139, MIR3140, MIR3688-1, MIR3688-2, MIR3945, MIR3945HG, MIR4276, MIR4453, MIR4453HG, MIR4454, MIR4455, MIR4799, MIR548G, MIR548T, MIR578, MIR6082, MIR7849, MMAA, MND1, MSMO1, NAA15, NAF1, NDUFC1, NEIL3, NEK1, NOCT, NPY1R, NPY2R, NPY5R, NR3C2, OTUD4, PABPC4L, PALLD, PCDH10, PCDH10-DT, PCDH18, PDGFC, PDLIM3, PGRMC2, PLK4, PLRG1, POU4F2, PPID, PRIMPOL, PRMT9, PRSS48, RAB33B, RAB33B-AS1, RAPGEF2, RBM46, REELD1, RNF150, RNF175, RPS3A, RWDD4, RXFP1, SAP30, SAP30-DT, SCLT1, SCOC, SCOC-AS1, SCRG1, SETD7, SFRP2, SH3D19, SH3RF1, SLC10A7, SLC25A31, SLC25A4, SLC7A11, SLC7A11-AS1, SMAD1, SMAD1-AS1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMIM31, SNHG27, SNORD73A, SNORD73B, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, STOX2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, TIGD4, TKTL2, TLL1, TLR2, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM192, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIM75, TTC29, UCP1, UFSP2, USP38, USP38-DT, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZNF330, ZNF827
See casesPathogenic
(Jul 5, 2011)
no assertion criteria providedVCV000149581
4.
GRCh37:
Chr4:132906408-190828225
GRCh38:
Chr4:131985253-190095391
AADAT, ABCE1, ANXA10, APELA, C4orf51, CASP3, CBR4, CCDC110, CLDN22, DCHS2, DCLK2, ELMOD2, ENPP6, FBXW7, FBXW7-AS1, FREM3, GLRA3, GYPB, HPF1, KLHL2, LINC01099, LINC01179, LINC02269, LINC02273, LINC02275, LINC02432, LINC02507, LOC101928198, LOC101928551, LOC110120796, LOC110120799, LOC110121078, LOC112939921, LOC112939922, LOC112939923, LOC116158510, LOC121056743, LOC121056754, LOC121056755, LSM6, MGAT4D, MGST2, MIR4454, MIR4455, MIR4799, MIR6082, MIR7849, MMAA, MAP9, MAML3, MARCHF1, MFAP3L, MGARP, MIR1305, MIR3139, MIR4453, MIR4453HG, MIR3140, MIR3688-1, MIR3688-2, MIR3945, MIR3945HG, MIR4276, LOC121056752, LOC121056753, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC339975, LOC441052, LOC729558, LRBA, LRP2BP, LOC729870, LRAT, MIR548G, MIR548T, MIR578, LOC112939920, LOC110121259, LOC111413027, LOC111556115, LOC112939918, LOC112939919, LOC112939926, LOC112939927, LOC114827834, LOC114004384, LOC114827822, LOC114827833, LOC116158508, LOC116158509, MAB21L2, LINC02510, LINC02511, LINC02514, LINC02515, LOC101928052, LOC101928131, LOC101927516, LOC101927636, LOC102724776, LOC105377448, LOC105377458, LOC105377480, LOC105377590, LOC105377622, LOC105377623, LOC107992388, LOC108281188, LOC108281192, LOC121056744, LOC121056745, LINC02363, LINC02365, LINC02374, LINC02382, LINC02427, LINC02431, LINC02362, LINC02433, LINC02434, LINC02485, LINC02491, LINC02492, LINC02500, LINC02504, LINC02436, LINC02462, LOC110121159, LOC110121190, LINC00613, LINC00616, LINC01060, LINC01093, LINC00498, LINC00499, LINC01095, LINC01098, LINC01256, LINC01262, LINC01596, LINC01612, LINC02172, LINC02174, LINC02233, LINC02266, LINC02268, LINC02508, LINC02509, HAND2, HAND2-AS1, HELT, HHIP, HHIP-AS1, HMGB2, HPGD, IL15, INPP4B, IQCM, ING2, ING2-DT, IRF2, LINC02276, LINC02355, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, GK3P, GALNT7, GALNT7-DT, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, ETFDH, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, KLKB1, LINC00290, FGA, FGG, FHDC1, FLJ38576, FNIP2, FGB, CLDN24, CLGN, FHIP1A, FHIP1A-DT, CPE, CTSO, CYP4V2, DBET, DCTD, DDX60, DDX60L, EDNRA, CDKN2AIP, C4orf45, C4orf46, C4orf47, CENPU, CEP44, CFAP97, CLCN3, ELF2, ACSL1, ADAM29, AGA, AGA-DT, ANAPC10, GYPE, ANKRD37, ANP32C, ARFIP1, ARHGAP10, ASB5, ASIC5, FRG1, FRG1-DT, FRG2, FSTL5, GAB1, 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, 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
5.
GRCh37:
Chr4:135856771-190957473
GRCh38:
Chr4:134935616-190036318
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, 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, 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
See casesPathogenic
(Aug 19, 2013)
no assertion criteria providedVCV000155492
6.
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, 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
7.
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, 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
8.
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
9.
GRCh37:
Chr4:162934372-190828225
GRCh38:
Chr4:162013220-189975519
ANP32C, ANXA10, CENPU, CEP44, DCTD, DDX60, DDX60L, FBXO8, FLJ38576, GPM6A-DT, HAND2, HAND2-AS1, LINC00290, LINC01060, LINC01093, LINC02268, LINC02269, LINC02492, LINC02500, LINC02504, LOC108281192, LOC110120796, LOC112939922, LOC121056748, LOC121056749, LRP2BP, MSMO1, MTNR1A, NAF1, PDLIM3, PRIMPOL, SNX25, SORBS2, SPATA4, TKTL2, TLL1, TLR3, TRIML2, UFSP2, VEGFC, TRIM60, TRIM61, TRIM75, TRIML1, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42, RWDD4, SAP30, PALLD, SAP30-DT, SCRG1, SH3RF1, SLC25A4, SMIM31, SPCS3, SPOCK3, TEMN3-AS1, TENM3, STOX2, TENM3-AS1, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC441052, LOC121056755, LOC339975, TMA16, MARCHF1, MFAP3L, MIR1305, MIR3945, MIR3945HG, MIR4276, MIR4454, MIR4455, MIR548T, MIR578, MIR6082, TMEM192, TRAPPC11, NEIL3, LINC02275, LINC02362, LINC02382, LINC02427, LINC02431, LINC02363, LINC02365, LINC02374, LINC02434, LINC02436, NEK1, NPY1R, LINC02508, LINC02509, LINC02514, LINC02515, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC105377590, LOC107992388, NPY5R, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827833, GALNTL6, GALNTL6-AS1, GK3P, GLRA3, GPM6A, HELT, HMGB2, HPF1, HPGD, ING2, ING2-DT, IRF2, KLHL2, KLKB1, LOC114827834, LINC01098, LINC01099, LINC01179, LINC01596, LINC01262, CASP3, CBR4, CCDC110, CDKN2AIP, ASB5, C4orf47, CFAP97, CLCN3, CLDN22, CLDN24, CPE, CYP4V2, LINC01612, LINC02174, ENPP6, F11, F11-AS1, FAM149A, FAM218A, FAT1, LOC116158509, LOC116158510, APELA, AGA-DT, ANKRD37, ADAM29, AGA, AADAT, ACSL1, FRG1, FRG1-DT, FSTL5, GALNT7, GALNT7-DT
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057053
10.
GRCh37:
Chr4:164960682-190828225
GRCh38:
Chr4:164039530-189982708
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059505
11.
GRCh37:
Chr4:166202188-190939340
GRCh38:
Chr4:165281036-190018185
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151716
12.
GRCh37:
Chr4:167238739-190828225
GRCh38:
Chr4:166317587-190095391
See casesPathogenic
(May 27, 2011)
no assertion criteria providedVCV000148458
13.
GRCh37:
Chr4:167551358-180742113
GRCh38:
Chr4:166630207-179820960
See casesPathogenic
(Apr 23, 2013)
no assertion criteria providedVCV000153168
14.
GRCh37:
Chr4:168294867-190957473
GRCh38:
Chr4:167373716-190036318
See casesPathogenic
(Aug 2, 2013)
no assertion criteria providedVCV000153653
15.
GRCh37:
Chr4:169040468-190828225
GRCh38:
Chr4:168119317-190095391
See casesPathogenic
(Jan 9, 2013)
no assertion criteria providedVCV000155264
16.
GRCh37:
Chr4:169891551-187857892
GRCh38:
Chr4:168970400-186936738
See casesPathogenicno assertion criteria providedVCV000154300
17.
GRCh37:
Chr4:170794659-190939340
GRCh38:
Chr4:169873508-190018185
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151692
18.
GRCh37:
Chr4:170822356-190828225
GRCh38:
Chr4:169901205-190095391
See casesUncertain significance
(Aug 2, 2012)
no assertion criteria providedVCV000149543
19.
GRCh37:
Chr4:171820275-190957473
GRCh38:
Chr4:170899124-190036318
See casesPathogenic
(Mar 4, 2013)
no assertion criteria providedVCV000155165
20.
GRCh37:
Chr4:172428655-182302480
GRCh38:
Chr4:171507504-181381327
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058050
21.
GRCh37:
Chr4:172428855-190790881
GRCh38:
Chr4:171507704-189869726
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059507
22.
GRCh37:
Chr4:172772446-179693970
GRCh38:
Chr4:171851295-178772816
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059508
23.
GRCh37:
Chr4:173121379-190828225
GRCh38:
Chr4:172200228-189975519
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058061
24.
GRCh37:
Chr4:173278139-190828225
GRCh38:
Chr4:172356988-189975519
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059510
25.
GRCh37:
Chr4:173422525-190828225
GRCh38:
Chr4:172501374-190095332
See casesPathogenic
(Jan 21, 2013)
no assertion criteria providedVCV000155012
26.
GRCh37:
Chr4:174521062-189545485
GRCh38:
Chr4:173599911-188624331
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057133
27.
GRCh37:
Chr4:174675826-190264449
GRCh38:
Chr4:173754675-189343295
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059511
28.
GRCh37:
Chr4:174775711-190469337
GRCh38:
Chr4:173854560-189548183
See casesPathogenic
(Feb 11, 2011)
no assertion criteria providedVCV000146879
29.
GRCh37:
Chr4:174910180-190828225
GRCh38:
Chr4:173989029-189975519
See casesPathogenic
(Feb 4, 2013)
no assertion criteria providedVCV000152991
30.
GRCh37:
Chr4:175002043-184116691
GRCh38:
Chr4:174080892-183195538
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059512
31.
GRCh37:
Chr4:175934206-182573528
GRCh38:
Chr4:175013055-181652375
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059513
32.
GRCh37:
Chr4:176404834-190828225
GRCh38:
Chr4:175483683-189975519
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057505
33.
GRCh37:
Chr4:177677786-190543118
GRCh38:
Chr4:176756632-189621964
See casesLikely pathogenic
(Oct 22, 2013)
no assertion criteria providedVCV000155559
34.
GRCh37:
Chr4:178267221-178501048
GRCh38:
Chr4:177346067-177579894
AGA, NEIL3, AGA-DT, LOC112939926See casesBenign
(Apr 30, 2011)
no assertion criteria providedVCV000152445
35.
GRCh37:
Chr4:178351947
GRCh38:
Chr4:177430793
AGAAspartylglucosaminuriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000902807
36.
GRCh37:
Chr4:178351980
GRCh38:
Chr4:177430826
AGAAspartylglucosaminuriaBenign
(Apr 27, 2017)
criteria provided, single submitterVCV000902808
37.
GRCh37:
Chr4:178351994
GRCh38:
Chr4:177430840
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348214
38.
GRCh37:
Chr4:178352006
GRCh38:
Chr4:177430852
AGAAspartylglucosaminuriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000902809
39.
GRCh37:
Chr4:178352010
GRCh38:
Chr4:177430856
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348215
40.
GRCh37:
Chr4:178352011
GRCh38:
Chr4:177430857
AGAAspartylglucosaminuriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900248
41.
GRCh37:
Chr4:178352012
GRCh38:
Chr4:177430858
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348216
42.
GRCh37:
Chr4:178352038-178352039
GRCh38:
Chr4:177430884-177430885
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348217
43.
GRCh37:
Chr4:178352110
GRCh38:
Chr4:177430956
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348218
44.
GRCh37:
Chr4:178352144
GRCh38:
Chr4:177430990
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348219
45.
GRCh37:
Chr4:178352182
GRCh38:
Chr4:177431028
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348220
46.
GRCh37:
Chr4:178352227
GRCh38:
Chr4:177431073
AGAAspartylglucosaminuriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900249
47.
GRCh37:
Chr4:178352405
GRCh38:
Chr4:177431251
AGAAspartylglucosaminuriaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000900250
48.
GRCh37:
Chr4:178352545
GRCh38:
Chr4:177431391
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348221
49.
GRCh37:
Chr4:178352642
GRCh38:
Chr4:177431488
AGAnot provided, AspartylglucosaminuriaConflicting interpretations of pathogenicity
(Aug 28, 2018)
criteria provided, conflicting interpretationsVCV000348222
50.
GRCh37:
Chr4:178352643
GRCh38:
Chr4:177431489
AGAAspartylglucosaminuriaUncertain significance
(Mar 23, 2018)
criteria provided, single submitterVCV000901403
51.
GRCh37:
Chr4:178352655
GRCh38:
Chr4:177431501
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348223
52.
GRCh37:
Chr4:178352679
GRCh38:
Chr4:177431525
AGAnot provided, AspartylglucosaminuriaBenign
(Jun 19, 2018)
criteria provided, multiple submitters, no conflictsVCV000348224
53.
GRCh37:
Chr4:178352726
GRCh38:
Chr4:177431572
AGAAspartylglucosaminuriaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000901404
54.
GRCh37:
Chr4:178352766
GRCh38:
Chr4:177431612
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348225
55.
GRCh37:
Chr4:178352814
GRCh38:
Chr4:177431660
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348226
56.
GRCh37:
Chr4:178352827
GRCh38:
Chr4:177431673
AGAAspartylglucosaminuriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000901405
57.
GRCh37:
Chr4:178352849
GRCh38:
Chr4:177431695
AGAAspartylglucosaminuriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000901960
58.
GRCh37:
Chr4:178352854
GRCh38:
Chr4:177431700
AGAAspartylglucosaminuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348227
59.
GRCh37:
Chr4:178352859
GRCh38:
Chr4:177431705
AGAAspartylglucosaminuriaUncertain significance
(Apr 16, 2020)
no assertion criteria providedVCV000991942
60.
GRCh37:
Chr4:178352873
GRCh38:
Chr4:177431719
AGAD344H, D334HAspartylglucosaminuriaUncertain significance
(Apr 26, 2018)
criteria provided, single submitterVCV000579942
61.
GRCh37:
Chr4:178352880
GRCh38:
Chr4:177431726
AGAnot provided, AspartylglucosaminuriaConflicting interpretations of pathogenicity
(Dec 8, 2020)
criteria provided, conflicting interpretationsVCV000348228
62.
GRCh37:
Chr4:178352904
GRCh38:
Chr4:177431750
AGAAspartylglucosaminuriaLikely benign
(Jun 9, 2020)
criteria provided, single submitterVCV001106448
63.
GRCh37:
Chr4:178352904
GRCh38:
Chr4:177431750
AGAAspartylglucosaminuriaLikely benign
(Nov 18, 2020)
criteria provided, single submitterVCV000798466
64.
GRCh37:
Chr4:178352910
GRCh38:
Chr4:177431756
AGAY331*, Y321*AspartylglucosaminuriaLikely pathogenic
(Jun 21, 2017)
criteria provided, single submitterVCV000552400
65.
GRCh37:
Chr4:178352916
GRCh38:
Chr4:177431762
AGAM319I, M329IAspartylglucosaminuriaUncertain significance
(May 21, 2020)
criteria provided, single submitterVCV001025178
66.
GRCh37:
Chr4:178352924
GRCh38:
Chr4:177431770
AGAS317G, S327GAspartylglucosaminuriaUncertain significance
(Apr 16, 2020)
no assertion criteria providedVCV000991943
67.
GRCh37:
Chr4:178352925
GRCh38:
Chr4:177431771
AGAAspartylglucosaminuriaLikely benign
(Sep 16, 2020)
criteria provided, single submitterVCV001105684
68.
GRCh37:
Chr4:178352925
GRCh38:
Chr4:177431771
AGAF316L, F326LAspartylglucosaminuriaUncertain significance
(Apr 16, 2020)
no assertion criteria providedVCV000991944
69.
GRCh37:
Chr4:178352932
GRCh38:
Chr4:177431778
AGAT314I, T324IIntellectual disabilityLikely benign
(Jan 1, 2019)
no assertion criteria providedVCV000975324
70.
GRCh37:
Chr4:178352938
GRCh38:
Chr4:177431784
AGAT322I, T312IAspartylglucosaminuria, not specifiedBenign/Likely benign
(Dec 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000387711
71.
GRCh37:
Chr4:178352964
GRCh38:
Chr4:177431810
AGAAspartylglucosaminuriaLikely pathogenic
(Jul 31, 2017)
criteria provided, single submitterVCV000552967
72.
GRCh37:
Chr4:178352967
GRCh38:
Chr4:177431813
AGAAspartylglucosaminuriaLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV000761535
73.
GRCh37:
Chr4:178352969
GRCh38:
Chr4:177431815
AGAAspartylglucosaminuriaLikely benign
(Dec 26, 2019)
criteria provided, single submitterVCV001106469
74.
GRCh37:
Chr4:178352970
GRCh38:
Chr4:177431816
AGAAspartylglucosaminuriaLikely benign
(Sep 22, 2019)
criteria provided, single submitterVCV001083286
75.
GRCh37:
Chr4:178353046
GRCh38:
Chr4:177431892
AGAAspartylglucosaminuria, not providedBenign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000683254
76.
GRCh37:
Chr4:178354360
GRCh38:
Chr4:177433206
AGAAspartylglucosaminuriaLikely benign
(Jul 9, 2020)
criteria provided, single submitterVCV001109116
77.
GRCh37:
Chr4:178354367
GRCh38:
Chr4:177433213
AGAAspartylglucosaminuriaLikely pathogenic
(Nov 30, 2017)
criteria provided, single submitterVCV000555229
78.
GRCh37:
Chr4:178354367
GRCh38:
Chr4:177433213