| - GRCh37:
- Chr4:118986724-190828225
- GRCh38:
- Chr4:118065569-190042639
| AADAT, ABCE1, ABHD18, ACSL1, ADAD1, ADAM29, AFG2A, AGA, AGA-DT, ANAPC10, ANKRD37, ANKRD50, ANP32C, ANXA10, ANXA5, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, BBS12, BBS7, BLTP1, C4orf3, C4orf33, C4orf46, C4orf51, CASP3, CBR4, CCDC110, CCNA2, CDKN2AIP, CENPU, CEP44, CFAP96, 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, GK3, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, HAFML, HAND2, HAND2-AS1, HELT, HHIP, HHIP-AS1, HMGB2, HPF1, HPGD, HSPA4L, IL15, IL2, IL21, IL21-AS1, ING2, ING2-DT, INPP4B, INTU, IQCM, IRF2, JADE1, KLHL2, KLKB1, LARP1B, LINC00290, LINC00498, 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, LINC03074, LOC101927259, LOC101927414, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC101929762, LOC101930028, LOC102724700, LOC105377438, LOC105377448, LOC105377458, LOC105377468, LOC105377473, LOC105377480, LOC105377488, LOC105377490, LOC105377500, LOC105377502, LOC105377543, LOC105377590, LOC105377603, LOC105377622, 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, LOC121725182, LOC121725183, LOC121725185, LOC121725186, LOC121725187, LOC121725188, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, LOC123480922, LOC123480923, LOC123480924, LOC123480925, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932, LOC123480933, LOC123480934, LOC123480935, LOC123480936, LOC123480937, LOC123480938, LOC123480939, LOC123480940, LOC123480941, LOC123480942, LOC123480943, LOC123480944, LOC123480945, LOC123493216, LOC123493217, LOC123493218, LOC123493219, LOC123493220, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC123493255, LOC126088085, LOC126807142, LOC126807143, LOC126807144, LOC126807145, LOC126807146, LOC126807147, LOC126807148, LOC126807149, LOC126807150, LOC126807151, LOC126807152, LOC126807153, LOC126807154, LOC126807155, LOC126807156, LOC126807157, LOC126807158, LOC126807159, LOC126807160, LOC126807161, LOC126807162, LOC126807163, LOC126807164, LOC126807165, LOC126807166, LOC126807167, LOC126807168, LOC126807169, LOC126807170, LOC126807171, LOC126807172, LOC126807173, LOC126807174, LOC126807175, LOC126807176, LOC126807177, LOC126807178, LOC126807179, LOC126807180, LOC126807181, LOC126807182, LOC126807183, LOC126807184, LOC126807185, LOC126807186, LOC126807187, LOC126807188, LOC126807189, LOC126807190, LOC126807191, LOC126807192, LOC126807193, LOC126807194, LOC126807195, LOC126807196, LOC126807197, LOC126807198, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, LOC126807213, LOC126807214, LOC126807215, LOC126807216, LOC126807217, LOC126807218, LOC126807219, LOC126807220, LOC126807221, LOC126807222, LOC126807223, LOC126807224, LOC126807225, LOC126807226, LOC126807227, LOC126807228, LOC126807229, LOC126807230, LOC126807231, LOC126807232, LOC126807233, LOC126807234, LOC126807235, LOC126807236, LOC126807237, LOC126807238, LOC126807239, LOC126807240, LOC126807241, LOC126807242, LOC126807243, LOC126807244, LOC126807245, LOC126807246, LOC126807247, LOC126807248, LOC126807249, LOC126807250, LOC126807251, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC127898556, LOC127898557, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAD2L1, MAD2L1-DT, MAML3, MAP9, MAP9-AS1, 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, QKILA, 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, SPCS3, SPMIP2, SPOCK3, SPRY1, STOX2, SYNPO2, TBC1D9, TDO2, TENM3, TENM3-AS1, TENM3-AS2, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM184C-DT, 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:122439378-190828225
- GRCh38:
- Chr4:121518223-190062270
| AADAT, ABCE1, ABHD18, ACSL1, ADAD1, ADAM29, AFG2A, AGA, AGA-DT, ANAPC10, ANKRD37, ANKRD50, ANP32C, ANXA10, ANXA5, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, BBS12, BBS7, BLTP1, C4orf33, C4orf46, C4orf51, CASP3, CBR4, CCDC110, CCNA2, CDKN2AIP, CENPU, CEP44, CFAP96, 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, GK3, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, HAFML, HAND2, HAND2-AS1, HELT, HHIP, HHIP-AS1, HMGB2, HPF1, HPGD, HSPA4L, IL15, IL2, IL21, IL21-AS1, ING2, ING2-DT, INPP4B, INTU, IQCM, IRF2, JADE1, KLHL2, KLKB1, LARP1B, LINC00290, LINC00498, 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, LINC03074, LOC101927259, LOC101927414, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC101930028, LOC102724700, LOC105377438, LOC105377448, LOC105377458, LOC105377468, LOC105377473, LOC105377480, LOC105377488, LOC105377490, LOC105377500, LOC105377502, LOC105377543, LOC105377590, LOC105377603, LOC105377622, 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, LOC121725185, LOC121725186, LOC121725187, LOC121725188, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, LOC123480922, LOC123480923, LOC123480924, LOC123480925, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932, LOC123480933, LOC123480934, LOC123480935, LOC123480936, LOC123480937, LOC123480938, LOC123480939, LOC123480940, LOC123480941, LOC123480942, LOC123480943, LOC123480944, LOC123480945, LOC123493216, LOC123493217, LOC123493218, LOC123493219, LOC123493220, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC123493255, LOC126088085, LOC126807144, LOC126807145, LOC126807146, LOC126807147, LOC126807148, LOC126807149, LOC126807150, LOC126807151, LOC126807152, LOC126807153, LOC126807154, LOC126807155, LOC126807156, LOC126807157, LOC126807158, LOC126807159, LOC126807160, LOC126807161, LOC126807162, LOC126807163, LOC126807164, LOC126807165, LOC126807166, LOC126807167, LOC126807168, LOC126807169, LOC126807170, LOC126807171, LOC126807172, LOC126807173, LOC126807174, LOC126807175, LOC126807176, LOC126807177, LOC126807178, LOC126807179, LOC126807180, LOC126807181, LOC126807182, LOC126807183, LOC126807184, LOC126807185, LOC126807186, LOC126807187, LOC126807188, LOC126807189, LOC126807190, LOC126807191, LOC126807192, LOC126807193, LOC126807194, LOC126807195, LOC126807196, LOC126807197, LOC126807198, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, LOC126807213, LOC126807214, LOC126807215, LOC126807216, LOC126807217, LOC126807218, LOC126807219, LOC126807220, LOC126807221, LOC126807222, LOC126807223, LOC126807224, LOC126807225, LOC126807226, LOC126807227, LOC126807228, LOC126807229, LOC126807230, LOC126807231, LOC126807232, LOC126807233, LOC126807234, LOC126807235, LOC126807236, LOC126807237, LOC126807238, LOC126807239, LOC126807240, LOC126807241, LOC126807242, LOC126807243, LOC126807244, LOC126807245, LOC126807246, LOC126807247, LOC126807248, LOC126807249, LOC126807250, LOC126807251, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC127898556, LOC127898557, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAML3, MAP9, MAP9-AS1, 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, QKILA, 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, SPCS3, SPMIP2, SPOCK3, SPRY1, STOX2, TBC1D9, TDO2, TENM3, TENM3-AS1, TENM3-AS2, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM184C-DT, 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:126354098-186683041
- GRCh38:
- Chr4:125432943-185761887
| C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP96, 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, GK3, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, HAFML, HAND2, HAND2-AS1, HELT, HHIP, HHIP-AS1, HMGB2, HPF1, HPGD, HSPA4L, IL15, ING2, ING2-DT, INPP4B, INTU, IQCM, IRF2, JADE1, KLHL2, LARP1B, LINC00290, LINC00498, 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, LINC03074, LOC101927259, LOC101927414, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC102724700, LOC105377438, LOC105377448, LOC105377458, LOC105377468, LOC105377473, LOC105377480, LOC105377488, LOC105377490, LOC105377500, LOC105377502, LOC105377543, LOC105377590, LOC105377622, 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, LOC121725188, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932, LOC123480933, LOC123480934, LOC123480935, LOC123480936, LOC123480937, LOC123480938, LOC123480939, LOC123480940, LOC123480941, LOC123480942, LOC123480943, LOC123480944, LOC123480945, LOC123493216, LOC123493217, LOC123493218, LOC123493219, LOC123493220, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC126807150, LOC126807151, LOC126807152, LOC126807153, LOC126807154, LOC126807155, LOC126807156, LOC126807157, LOC126807158, LOC126807159, LOC126807160, LOC126807161, LOC126807162, LOC126807163, LOC126807164, LOC126807165, LOC126807166, LOC126807167, LOC126807168, LOC126807169, LOC126807170, LOC126807171, LOC126807172, LOC126807173, LOC126807174, LOC126807175, LOC126807176, LOC126807177, LOC126807178, LOC126807179, LOC126807180, LOC126807181, LOC126807182, LOC126807183, LOC126807184, LOC126807185, LOC126807186, LOC126807187, LOC126807188, LOC126807189, LOC126807190, LOC126807191, LOC126807192, LOC126807193, LOC126807194, LOC126807195, LOC126807196, LOC126807197, LOC126807198, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, LOC126807213, LOC126807214, LOC126807215, LOC126807216, LOC126807217, LOC126807218, LOC126807219, LOC126807220, LOC126807221, LOC126807222, LOC126807223, LOC126807224, LOC126807225, LOC126807226, LOC126807227, LOC126807228, LOC126807229, LOC126807230, LOC126807231, LOC126807232, LOC126807233, LOC126807234, LOC126807235, LOC126807236, LOC126807237, LOC126807238, LOC126807239, LOC126807240, LOC126807241, LOC126807242, LOC126807243, LOC126807244, LOC126807245, LOC126807246, LOC126807247, LOC127898556, LOC127898557, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAML3, MAP9, MAP9-AS1, 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, QKILA, 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, SPMIP2, SPOCK3, STOX2, TBC1D9, TDO2, TENM3, TENM3-AS1, TENM3-AS2, TIGD4, TKTL2, TLL1, TLR2, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM184C-DT, TMEM192, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIM75, TTC29, UCP1, UFSP2, USP38, USP38-DT, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZNF330, ZNF827, AADAT, ABCE1, ABHD18, ACSL1, ADAM29, AGA, AGA-DT, ANAPC10, ANKRD37, ANP32C, ANXA10, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, C4orf33, C4orf46 | | See cases | Pathogenic (Jul 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr4:132906408-190828225
- GRCh38:
- Chr4:131985253-190095391
| AADAT, ABCE1, ACSL1, ADAM29, AGA, AGA-DT, ANAPC10, ANKRD37, ANP32C, ANXA10, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, C4orf46, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP96, 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, GK3, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, HAFML, HAND2, HAND2-AS1, HELT, HHIP, HHIP-AS1, HMGB2, HPF1, HPGD, IL15, ING2, ING2-DT, INPP4B, IQCM, IRF2, KLHL2, KLKB1, LINC00290, LINC00498, 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, LINC03074, LOC101927414, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC101930028, LOC102724700, LOC105377438, LOC105377448, LOC105377458, LOC105377468, LOC105377473, LOC105377480, LOC105377488, LOC105377490, LOC105377500, LOC105377502, LOC105377543, LOC105377590, LOC105377603, LOC105377622, 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, LOC123480934, LOC123480935, LOC123480936, LOC123480937, LOC123480938, LOC123480939, LOC123480940, LOC123480941, LOC123480942, LOC123480943, LOC123480944, LOC123480945, LOC123493216, LOC123493217, LOC123493218, LOC123493219, LOC123493220, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC123493255, LOC126088085, LOC126807159, LOC126807160, LOC126807161, LOC126807162, LOC126807163, LOC126807164, LOC126807165, LOC126807166, LOC126807167, LOC126807168, LOC126807169, LOC126807170, LOC126807171, LOC126807172, LOC126807173, LOC126807174, LOC126807175, LOC126807176, LOC126807177, LOC126807178, LOC126807179, LOC126807180, LOC126807181, LOC126807182, LOC126807183, LOC126807184, LOC126807185, LOC126807186, LOC126807187, LOC126807188, LOC126807189, LOC126807190, LOC126807191, LOC126807192, LOC126807193, LOC126807194, LOC126807195, LOC126807196, LOC126807197, LOC126807198, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, LOC126807213, LOC126807214, LOC126807215, LOC126807216, LOC126807217, LOC126807218, LOC126807219, LOC126807220, LOC126807221, LOC126807222, LOC126807223, LOC126807224, LOC126807225, LOC126807226, LOC126807227, LOC126807228, LOC126807229, LOC126807230, LOC126807231, LOC126807232, LOC126807233, LOC126807234, LOC126807235, LOC126807236, LOC126807237, LOC126807238, LOC126807239, LOC126807240, LOC126807241, LOC126807242, LOC126807243, LOC126807244, LOC126807245, LOC126807246, LOC126807247, LOC126807248, LOC126807249, LOC126807250, LOC126807251, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC127898556, LOC127898557, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAML3, MAP9, MAP9-AS1, 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, SPMIP2, SPOCK3, STOX2, TBC1D9, TDO2, TENM3, TENM3-AS1, TENM3-AS2, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM184C-DT, 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 cases | Pathogenic (Aug 29, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr4:135856771-190957473
- GRCh38:
- Chr4:134935616-190036318
| SPCS3, SPMIP2, SPOCK3, STOX2, TBC1D9, TDO2, TENM3, TENM3-AS1, TENM3-AS2, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM184C-DT, 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, C4orf46, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP96, 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, GK3, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, HAFML, HAND2, HAND2-AS1, HELT, HHIP, HHIP-AS1, HMGB2, HPF1, HPGD, IL15, ING2, ING2-DT, INPP4B, IQCM, IRF2, KLHL2, KLKB1, LINC00290, LINC00498, 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, LINC03074, LOC101927414, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC101930028, LOC102724700, LOC105377438, LOC105377448, LOC105377458, LOC105377468, LOC105377473, LOC105377480, LOC105377488, LOC105377490, LOC105377500, LOC105377502, LOC105377543, LOC105377590, LOC105377603, LOC105377622, 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, LOC123480936, LOC123480937, LOC123480938, LOC123480939, LOC123480940, LOC123480941, LOC123480942, LOC123480943, LOC123480944, LOC123480945, LOC123493216, LOC123493217, LOC123493218, LOC123493219, LOC123493220, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC123493255, LOC126088085, LOC126807162, LOC126807163, LOC126807164, LOC126807165, LOC126807166, LOC126807167, LOC126807168, LOC126807169, LOC126807170, LOC126807171, LOC126807172, LOC126807173, LOC126807174, LOC126807175, LOC126807176, LOC126807177, LOC126807178, LOC126807179, LOC126807180, LOC126807181, LOC126807182, LOC126807183, LOC126807184, LOC126807185, LOC126807186, LOC126807187, LOC126807188, LOC126807189, LOC126807190, LOC126807191, LOC126807192, LOC126807193, LOC126807194, LOC126807195, LOC126807196, LOC126807197, LOC126807198, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, LOC126807213, LOC126807214, LOC126807215, LOC126807216, LOC126807217, LOC126807218, LOC126807219, LOC126807220, LOC126807221, LOC126807222, LOC126807223, LOC126807224, LOC126807225, LOC126807226, LOC126807227, LOC126807228, LOC126807229, LOC126807230, LOC126807231, LOC126807232, LOC126807233, LOC126807234, LOC126807235, LOC126807236, LOC126807237, LOC126807238, LOC126807239, LOC126807240, LOC126807241, LOC126807242, LOC126807243, LOC126807244, LOC126807245, LOC126807246, LOC126807247, LOC126807248, LOC126807249, LOC126807250, LOC126807251, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC127898556, LOC127898557, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAML3, MAP9, MAP9-AS1, 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 | | See cases | Pathogenic (Aug 19, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr4:139431686-190828225
- GRCh38:
- Chr4:138510532-189963195
| SCRG1, SETD7, SFRP2, SH3D19, SH3RF1, SLC10A7, SLC25A4, SMAD1, SMAD1-AS1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMIM31, SNORD73A, SNORD73B, SNX25, SORBS2, SPATA4, SPCS3, SPMIP2, SPOCK3, STOX2, TBC1D9, TDO2, TENM3, TENM3-AS1, TENM3-AS2, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM184C-DT, 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, C4orf46, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP96, 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, GK3, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, HAFML, 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, LINC03074, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC101930028, LOC102724700, LOC105377448, LOC105377458, LOC105377468, LOC105377473, LOC105377480, LOC105377488, LOC105377490, LOC105377500, LOC105377502, LOC105377543, LOC105377590, LOC105377603, LOC105377622, 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, LOC123480936, LOC123480937, LOC123480938, LOC123480939, LOC123480940, LOC123480941, LOC123480942, LOC123480943, LOC123480944, LOC123480945, LOC123493216, LOC123493217, LOC123493218, LOC123493219, LOC123493220, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC126088085, LOC126807164, LOC126807165, LOC126807166, LOC126807167, LOC126807168, LOC126807169, LOC126807170, LOC126807171, LOC126807172, LOC126807173, LOC126807174, LOC126807175, LOC126807176, LOC126807177, LOC126807178, LOC126807179, LOC126807180, LOC126807181, LOC126807182, LOC126807183, LOC126807184, LOC126807185, LOC126807186, LOC126807187, LOC126807188, LOC126807189, LOC126807190, LOC126807191, LOC126807192, LOC126807193, LOC126807194, LOC126807195, LOC126807196, LOC126807197, LOC126807198, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, LOC126807213, LOC126807214, LOC126807215, LOC126807216, LOC126807217, LOC126807218, LOC126807219, LOC126807220, LOC126807221, LOC126807222, LOC126807223, LOC126807224, LOC126807225, LOC126807226, LOC126807227, LOC126807228, LOC126807229, LOC126807230, LOC126807231, LOC126807232, LOC126807233, LOC126807234, LOC126807235, LOC126807236, LOC126807237, LOC126807238, LOC126807239, LOC126807240, LOC126807241, LOC126807242, LOC126807243, LOC126807244, LOC126807245, LOC126807246, LOC126807247, LOC126807248, LOC126807249, LOC126807250, LOC126807251, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC127898556, LOC127898557, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAML3, MAP9, MAP9-AS1, 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 | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr4:145963820-190828225
- GRCh38:
- Chr4:145042668-189975519
| AADAT, ABCE1, ACSL1, ADAM29, AGA, AGA-DT, ANAPC10, ANKRD37, ANP32C, ANXA10, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, C4orf46, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP96, 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, GK3, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, HAFML, 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, LINC03074, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC101930028, LOC102724700, LOC105377468, LOC105377473, LOC105377480, LOC105377488, LOC105377490, LOC105377500, LOC105377502, LOC105377543, LOC105377590, LOC105377603, 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, LOC123480937, LOC123480944, LOC123480945, LOC123493216, LOC123493217, LOC123493218, LOC123493219, LOC123493220, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC126088085, LOC126807173, LOC126807174, LOC126807175, LOC126807176, LOC126807177, LOC126807178, LOC126807179, LOC126807180, LOC126807181, LOC126807182, LOC126807183, LOC126807184, LOC126807185, LOC126807186, LOC126807187, LOC126807188, LOC126807189, LOC126807190, LOC126807191, LOC126807192, LOC126807193, LOC126807194, LOC126807195, LOC126807196, LOC126807197, LOC126807198, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, LOC126807213, LOC126807214, LOC126807215, LOC126807216, LOC126807217, LOC126807218, LOC126807219, LOC126807220, LOC126807221, LOC126807222, LOC126807223, LOC126807224, LOC126807225, LOC126807226, LOC126807227, LOC126807228, LOC126807229, LOC126807230, LOC126807231, LOC126807232, LOC126807233, LOC126807234, LOC126807235, LOC126807236, LOC126807237, LOC126807238, LOC126807239, LOC126807240, LOC126807241, LOC126807242, LOC126807243, LOC126807244, LOC126807245, LOC126807246, LOC126807247, LOC126807248, LOC126807249, LOC126807250, LOC126807251, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC127898556, LOC127898557, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAP9, MAP9-AS1, 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, SPMIP2, SPOCK3, STOX2, TDO2, TENM3, TENM3-AS1, TENM3-AS2, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM184C-DT, TMEM192, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, TTC29, UFSP2, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42, ZNF827 | | See cases | Pathogenic (Oct 19, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr4:148238435-174596710
- GRCh38:
- Chr4:147317283-173675559
| LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC123480937, LOC123480945, LOC123493216, LOC123493217, LOC123493218, LOC123493219, LOC123493220, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC126807183, LOC126807184, LOC126807185, LOC126807186, LOC126807187, LOC126807188, LOC126807189, LOC126807190, LOC126807191, LOC126807192, LOC126807193, LOC126807194, LOC126807195, LOC126807196, LOC126807197, LOC126807198, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, LOC126807213, LOC126807214, LOC126807215, LOC126807216, LOC126807217, LOC126807218, LOC126807219, LOC126807220, LOC126807221, LOC127898556, LOC127898557, LOC441052, LOC729558, LOC729870, LRAT, LRBA, MAB21L2, MAP9, MAP9-AS1, MARCHF1, MFAP3L, MIR3140, MIR3688-1, MIR3688-2, MIR4453, MIR4453HG, MIR4454, MIR4799, MIR548G, MIR548T, MIR578, MIR6082, MND1, MSMO1, NAF1, NEK1, NPY1R, NPY2R, NPY5R, NR3C2, PALLD, PDGFC, PLRG1, PPID, PRMT9, PRSS48, RAPGEF2, RBM46, RNF175, RPS3A, RXFP1, SAP30, SAP30-DT, SCRG1, SFRP2, SH3D19, SH3RF1, SMIM31, SNORD73A, SNORD73B, SPMIP2, SPOCK3, TDO2, TIGD4, TKTL2, TLL1, TLR2, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM184C-DT, TMEM192, TRIM2, TRIM60, TRIM61, TRIM75, AADAT, ANP32C, ANXA10, APELA, ARFIP1, ARHGAP10, ASIC5, C4orf46, CBR4, CLCN3, CPE, CTSO, DCHS2, DCLK2, DDX60, DDX60L, EDNRA, ETFDH, FAM218A, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FNIP2, FSTL5, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, GK3, GLRB, GRIA2, GUCY1A1, GUCY1B1, HAND2, HAND2-AS1, HMGB2, HPF1, IQCM, KLHL2, LINC01179, LINC01612, LINC02174, LINC02233, LINC02273, LINC02275, LINC02355, LINC02382, LINC02431, LINC02433, LINC02504, LINC02507, LINC03074, LOC101928052, LOC101928131, LOC101928198, LOC102724700, LOC105377480, LOC105377488, LOC105377490, LOC105377500, LOC105377502, LOC108281188, LOC110121078, LOC110121159, LOC110121190, LOC110121259, LOC111556115, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC114827822, LOC114827833, LOC116158509, LOC121056744 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:152220962-161235202
- GRCh38:
- Chr4:151299810-160314050
| ARFIP1, ASIC5, C4orf46, CTSO, DCHS2, ETFDH, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FNIP2, GASK1B, GASK1B-AS1, GATB, GLRB, GRIA2, GUCY1A1, GUCY1B1, LINC02233, LINC02273, LINC02433, LINC03074, LOC102724700, LOC105377488, LOC105377490, LOC105377500, LOC105377502, LOC110121078, LOC110121190, LOC111556115, LOC112939920, LOC112939921, LOC114827822, LOC121056745, LOC121056746, LOC121056747, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC123480937, LOC123493219, LOC123493220, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC126807191, LOC126807192, LOC126807193, LOC126807194, LOC126807195, LOC126807196, LOC126807197, LOC126807198, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC127898556, LOC127898557, LOC729870, LRAT, MAP9, MAP9-AS1, MIR3140, MIR3688-1, MIR3688-2, MIR4453, MIR4453HG, MND1, NPY2R, PDGFC, PLRG1, PPID, RAPGEF2, RBM46, RNF175, RXFP1, SFRP2, SH3D19, SPMIP2, TDO2, TIGD4, TLR2, TMEM131L, TMEM144, TMEM154, TRIM2 | | See cases | Likely pathogenic (Aug 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr4:156084134-171880704
- GRCh38:
- Chr4:155162982-170959553
| LOC123493238, LOC123493239, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, LOC126807213, LOC126807214, LOC126807215, LOC126807216, LOC126807217, LOC126807218, LOC126807219, LOC126807220, MAP9, MAP9-AS1, MARCHF1, MFAP3L, MIR3688-1, MIR3688-2, MIR4454, MIR578, MSMO1, NAF1, NEK1, NPY1R, NPY2R, NPY5R, PALLD, PDGFC, PPID, RAPGEF2, RXFP1, SH3RF1, SMIM31, SPMIP2, SPOCK3, TDO2, TKTL2, TLL1, TMA16, TMEM144, TMEM192, TRIM60, TRIM61, TRIM75, AADAT, ANP32C, ANXA10, APELA, ASIC5, C4orf46, CBR4, CLCN3, CPE, CTSO, DDX60, DDX60L, ETFDH, FAM218A, FNIP2, FSTL5, GASK1B, GASK1B-AS1, GK3, GLRB, GRIA2, GUCY1A1, GUCY1B1, HPF1, KLHL2, LINC01179, LINC01612, LINC02233, LINC02275, LINC02382, LINC02433, LOC101928052, LOC101928131, LOC101928198, LOC105377502, LOC111556115, LOC112939921, LOC112939922, LOC112939923, LOC116158509, LOC121056747, LOC121056748, LOC121056749, LOC121725192, LOC121725193, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237 | | See cases | Pathogenic (Jun 25, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr4:157174079-161372576
- GRCh38:
- Chr4:156252927-160451424
| C4orf45, C4orf46, ETFDH, FNIP2, GASK1B, GASK1B-AS1, GLRB, GRIA2, LINC02233, LINC02433, LOC111556115, LOC112939921, LOC121725192, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, MIR3688-1, MIR3688-2, PDGFC, PPID, RAPGEF2, RXFP1, TMEM144 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:157420900-164307559
- GRCh38:
- Chr4:156499748-163386407
| C4orf45, C4orf46, ETFDH, FNIP2, FSTL5, GASK1B, GASK1B-AS1, GLRB, GRIA2, LINC02233, LINC02433, LOC101928052, LOC111556115, LOC112939921, LOC121725192, LOC121725193, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, MIR3688-1, MIR3688-2, MIR4454, NAF1, NPY1R, NPY5R, PDGFC, PPID, RAPGEF2, RXFP1, TMEM144 | | See cases | Likely pathogenic (Oct 22, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr4:159309080-167766877
- GRCh38:
- Chr4:158387928-166845726
| ANP32C, APELA, C4orf45, C4orf46, CPE, ETFDH, FAM218A, FNIP2, FSTL5, GK3, KLHL2, LINC01179, LINC02233, LOC101928052, LOC101928131, LOC112939922, LOC116158509, LOC121056748, LOC121056749, LOC121725192, LOC121725193, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, MARCHF1, MIR3688-1, MIR3688-2, MIR4454, MIR578, MSMO1, NAF1, NPY1R, NPY5R, PPID, RAPGEF2, RXFP1, SMIM31, SPOCK3, TKTL2, TLL1, TMA16, TMEM192, TRIM60, TRIM61, TRIM75 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr4:159519882-161002093
- GRCh38:
- Chr4:158598730-160080941
| C4orf45, C4orf46, ETFDH, FNIP2, LINC02233, LOC121725192, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC126807205, LOC126807206, LOC126807207, MIR3688-1, MIR3688-2, PPID, RAPGEF2, RXFP1 | | See cases | Uncertain significance (Aug 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr4:159541186-159631379
- GRCh38:
- Chr4:158620034-158710227
| LOC123493226, RXFP1, C4orf46, ETFDH, PPID | | Megacolon | Uncertain significance (Jan 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159592948
- GRCh38:
- Chr4:158671796
| C4orf46, ETFDH | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593023
- GRCh38:
- Chr4:158671871
| C4orf46, ETFDH | | not provided | Likely benign (Sep 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593183
- GRCh38:
- Chr4:158672031
| C4orf46, ETFDH | | not provided | Likely benign (Sep 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593199
- GRCh38:
- Chr4:158672047
| C4orf46, ETFDH | | not provided | Likely benign (Sep 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593294
- GRCh38:
- Chr4:158672142
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593370
- GRCh38:
- Chr4:158672218
| ETFDH | | not provided, Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Sep 17, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:159593435
- GRCh38:
- Chr4:158672283
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593512
- GRCh38:
- Chr4:158672360
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593532
- GRCh38:
- Chr4:158672380
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593548
- GRCh38:
- Chr4:158672396
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:159593567-159593569
- GRCh38:
- Chr4:158672415-158672417
| ETFDH | | not specified | Likely benign (Oct 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593610
- GRCh38:
- Chr4:158672458
| ETFDH | M1R | See cases | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593610
- GRCh38:
- Chr4:158672458
| ETFDH | M1T | Multiple acyl-CoA dehydrogenase deficiency | Pathogenic (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593611
- GRCh38:
- Chr4:158672459
| ETFDH | M1I | Multiple acyl-CoA dehydrogenase deficiency | Pathogenic (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593614
- GRCh38:
- Chr4:158672462
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Nov 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593620
- GRCh38:
- Chr4:158672468
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Conflicting interpretations of pathogenicity (Apr 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:159593629
- GRCh38:
- Chr4:158672477
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593630
- GRCh38:
- Chr4:158672478
| ETFDH | L8V | not specified | Likely benign (Dec 4, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593633
- GRCh38:
- Chr4:158672481
| ETFDH | S9T | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:159593635
- GRCh38:
- Chr4:158672483
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Nov 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593640
- GRCh38:
- Chr4:158672488
| ETFDH | L11P | not provided | Uncertain significance (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593642
- GRCh38:
- Chr4:158672490
| ETFDH | A12P, G12R | not provided, Multiple acyl-CoA dehydrogenase deficiency | Pathogenic/Likely pathogenic (Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:159593647
- GRCh38:
- Chr4:158672495
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593647
- GRCh38:
- Chr4:158672495
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Pathogenic (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593649
- GRCh38:
- Chr4:158672497
| ETFDH | | not specified, Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Dec 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:159593659
- GRCh38:
- Chr4:158672507
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593699
- GRCh38:
- Chr4:158672547
| ETFDH | | not provided | Likely benign (Sep 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593788
- GRCh38:
- Chr4:158672636
| ETFDH | | not provided | Likely benign (Sep 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159593908
- GRCh38:
- Chr4:158672756
| ETFDH | | not provided | Likely benign (Sep 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601599-159620302
- GRCh38:
- Chr4:158680447-158699150
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely pathogenic (Jul 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601601
- GRCh38:
- Chr4:158680449
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601603
- GRCh38:
- Chr4:158680451
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601604
- GRCh38:
- Chr4:158680452
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601609-159620292
- GRCh38:
- Chr4:158680457-158699140
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely pathogenic (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601611
- GRCh38:
- Chr4:158680459
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601612
- GRCh38:
- Chr4:158680460
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Feb 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601613
- GRCh38:
- Chr4:158680461
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Aug 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601613
- GRCh38:
- Chr4:158680461
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601615
- GRCh38:
- Chr4:158680463
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601616
- GRCh38:
- Chr4:158680464
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601620
- GRCh38:
- Chr4:158680468
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601620
- GRCh38:
- Chr4:158680468
| ETFDH | Y13fs | Glutaric acidemia IIc | Pathogenic (Jul 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr4:159601622
- GRCh38:
- Chr4:158680470
| ETFDH | Y13C | not specified | Likely benign (May 2, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601626
- GRCh38:
- Chr4:158680474
| ETFDH | Q14H | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601627
- GRCh38:
- Chr4:158680475
| ETFDH | C15S | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601630
- GRCh38:
- Chr4:158680478
| ETFDH | F16I | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601634-159601635
- GRCh38:
- Chr4:158680482-158680483
| ETFDH | A18fs | not provided, Multiple acyl-CoA dehydrogenase deficiency | Pathogenic (Feb 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:159601638
- GRCh38:
- Chr4:158680486
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601639
- GRCh38:
- Chr4:158680487
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Pathogenic (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601645
- GRCh38:
- Chr4:158680493
| ETFDH | I21F | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Apr 21, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr4:159601647
- GRCh38:
- Chr4:158680495
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Conflicting interpretations of pathogenicity (Oct 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:159601650-159601651
- GRCh38:
- Chr4:158680498-158680499
| ETFDH | N24fs | Multiple acyl-CoA dehydrogenase deficiency | Pathogenic (Jul 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601663
- GRCh38:
- Chr4:158680511
| ETFDH | P27S | not provided, Multiple acyl-CoA dehydrogenase deficiency | Conflicting interpretations of pathogenicity (Jun 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:159601668
- GRCh38:
- Chr4:158680516
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601672
- GRCh38:
- Chr4:158680520
| ETFDH | A30T | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601675
- GRCh38:
- Chr4:158680523
| ETFDH | T31A | Multiple acyl-CoA dehydrogenase deficiency, not specified | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:159601676
- GRCh38:
- Chr4:158680524
| ETFDH | T31I | Multiple acyl-CoA dehydrogenase deficiency, not provided, not specified
| Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:159601682
- GRCh38:
- Chr4:158680530
| ETFDH | W33* | Multiple acyl-CoA dehydrogenase deficiency | Pathogenic (Feb 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601684
- GRCh38:
- Chr4:158680532
| ETFDH | S34T | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601692
- GRCh38:
- Chr4:158680540
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601698
- GRCh38:
- Chr4:158680546
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601701
- GRCh38:
- Chr4:158680549
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601705
- GRCh38:
- Chr4:158680553
| ETFDH | R41* | Multiple acyl-CoA dehydrogenase deficiency, Abnormality of metabolism/homeostasis | Pathogenic (Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:159601706
- GRCh38:
- Chr4:158680554
| ETFDH | R41Q | not provided, Multiple acyl-CoA dehydrogenase deficiency | Conflicting interpretations of pathogenicity (Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:159601709
- GRCh38:
- Chr4:158680557
| ETFDH | I42T | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Nov 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601713
- GRCh38:
- Chr4:158680561
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601723
- GRCh38:
- Chr4:158680571
| ETFDH | T47A | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601726
- GRCh38:
- Chr4:158680574
| ETFDH | I48V | Multiple acyl-CoA dehydrogenase deficiency | Conflicting interpretations of pathogenicity (Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:159601732
- GRCh38:
- Chr4:158680580
| ETFDH | P50S | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Sep 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601735
- GRCh38:
- Chr4:158680583
| ETFDH | R51W | Multiple acyl-CoA dehydrogenase deficiency | Likely pathogenic (Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601736
- GRCh38:
- Chr4:158680584
| ETFDH | R51P | Multiple acyl-CoA dehydrogenase deficiency | Likely pathogenic (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601736
- GRCh38:
- Chr4:158680584
| ETFDH | R51L | Multiple acyl-CoA dehydrogenase deficiency | Likely pathogenic (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601736
- GRCh38:
- Chr4:158680584
| ETFDH | R51Q | Multiple acyl-CoA dehydrogenase deficiency | Likely pathogenic (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:159601738
- GRCh38:
- Chr4:158680586
| ETFDH | D52N | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601741
- GRCh38:
- Chr4:158680589
| ETFDH | K53* | not provided | Pathogenic (Aug 26, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601747-159601748
- GRCh38:
- Chr4:158680595-158680596
| ETFDH | K55fs | Multiple acyl-CoA dehydrogenase deficiency | Pathogenic (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601748
- GRCh38:
- Chr4:158680596
| ETFDH | K55R | Multiple acyl-CoA dehydrogenase deficiency | Uncertain significance (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601753
- GRCh38:
- Chr4:158680601
| ETFDH | W57R | Multiple acyl-CoA dehydrogenase deficiency | Likely pathogenic (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601755
- GRCh38:
- Chr4:158680603
| ETFDH | W57* | not provided | Pathogenic (Aug 8, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601756
- GRCh38:
- Chr4:158680604
| ETFDH | E58* | Multiple acyl-CoA dehydrogenase deficiency | Pathogenic (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601759
- GRCh38:
- Chr4:158680607
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency, not provided | Pathogenic/Likely pathogenic (Aug 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:159601760
- GRCh38:
- Chr4:158680608
| ETFDH | | not provided | Pathogenic (Mar 28, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601762
- GRCh38:
- Chr4:158680610
| ETFDH | | not provided, Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:159601774
- GRCh38:
- Chr4:158680622
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:159601777
- GRCh38:
- Chr4:158680625
| ETFDH | | Multiple acyl-CoA dehydrogenase deficiency | Likely benign (Dec 15, 2021) | criteria provided, single submitter |