U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 772

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 29, 2011)
no assertion criteria provided
5.
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 casesPathogenic
(Aug 19, 2013)
no assertion criteria provided
6.
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 casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
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, 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 casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
8.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr4:152220962-161235202
GRCh38:
Chr4:151299810-160314050
See casesLikely pathogenic
(Aug 5, 2011)
no assertion criteria provided
10.
GRCh37:
Chr4:156084134-171880704
GRCh38:
Chr4:155162982-170959553
See casesPathogenic
(Jun 25, 2013)
no assertion criteria provided
11.
GRCh37:
Chr4:157174079-161372576
GRCh38:
Chr4:156252927-160451424
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
12.
GRCh37:
Chr4:157420900-164307559
GRCh38:
Chr4:156499748-163386407
See casesLikely pathogenic
(Oct 22, 2013)
no assertion criteria provided
13.
GRCh37:
Chr4:159309080-167766877
GRCh38:
Chr4:158387928-166845726
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
14.
GRCh37:
Chr4:159519882-161002093
GRCh38:
Chr4:158598730-160080941
See casesUncertain significance
(Aug 13, 2012)
no assertion criteria provided
15.
GRCh37:
Chr4:159541186-159631379
GRCh38:
Chr4:158620034-158710227
LOC123493226, RXFP1, C4orf46, ETFDH, PPIDMegacolonUncertain significance
(Jan 1, 2020)
criteria provided, single submitter
16.
GRCh37:
Chr4:159592948
GRCh38:
Chr4:158671796
C4orf46, ETFDHnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr4:159593023
GRCh38:
Chr4:158671871
C4orf46, ETFDHnot providedLikely benign
(Sep 17, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr4:159593183
GRCh38:
Chr4:158672031
C4orf46, ETFDHnot providedLikely benign
(Sep 17, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr4:159593199
GRCh38:
Chr4:158672047
C4orf46, ETFDHnot providedLikely benign
(Sep 17, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr4:159593294
GRCh38:
Chr4:158672142
ETFDHMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr4:159593370
GRCh38:
Chr4:158672218
ETFDHnot provided, Multiple acyl-CoA dehydrogenase deficiencyLikely benign
(Sep 17, 2018)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr4:159593435
GRCh38:
Chr4:158672283
ETFDHMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr4:159593512
GRCh38:
Chr4:158672360
ETFDHMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr4:159593532
GRCh38:
Chr4:158672380
ETFDHMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr4:159593548
GRCh38:
Chr4:158672396
ETFDHMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Oct 13, 2021)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr4:159593567-159593569
GRCh38:
Chr4:158672415-158672417
ETFDHnot specifiedLikely benign
(Oct 26, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr4:159593610
GRCh38:
Chr4:158672458
ETFDHM1RSee casesUncertain significancecriteria provided, single submitter
28.
GRCh37:
Chr4:159593610
GRCh38:
Chr4:158672458
ETFDHM1TMultiple acyl-CoA dehydrogenase deficiencyPathogenic
(Sep 27, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr4:159593611
GRCh38:
Chr4:158672459
ETFDHM1IMultiple acyl-CoA dehydrogenase deficiencyPathogenic
(Jul 19, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr4:159593614
GRCh38:
Chr4:158672462
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Nov 10, 2020)
criteria provided, single submitter
31.
GRCh37:
Chr4:159593620
GRCh38:
Chr4:158672468
ETFDHMultiple acyl-CoA dehydrogenase deficiencyConflicting interpretations of pathogenicity
(Apr 28, 2022)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr4:159593629
GRCh38:
Chr4:158672477
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Sep 25, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr4:159593630
GRCh38:
Chr4:158672478
ETFDHL8Vnot specifiedLikely benign
(Dec 4, 2012)
criteria provided, single submitter
34.
GRCh37:
Chr4:159593633
GRCh38:
Chr4:158672481
ETFDHS9TMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr4:159593635
GRCh38:
Chr4:158672483
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Nov 9, 2019)
criteria provided, single submitter
36.
GRCh37:
Chr4:159593640
GRCh38:
Chr4:158672488
ETFDHL11Pnot providedUncertain significance
(Sep 15, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr4:159593642
GRCh38:
Chr4:158672490
ETFDHA12P, G12Rnot provided, Multiple acyl-CoA dehydrogenase deficiencyPathogenic/Likely pathogenic
(Jun 10, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr4:159593647
GRCh38:
Chr4:158672495
ETFDHMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Apr 17, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr4:159593647
GRCh38:
Chr4:158672495
ETFDHMultiple acyl-CoA dehydrogenase deficiencyPathogenic
(Aug 9, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr4:159593649
GRCh38:
Chr4:158672497
ETFDHnot specified, Multiple acyl-CoA dehydrogenase deficiencyLikely benign
(Dec 24, 2021)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr4:159593659
GRCh38:
Chr4:158672507
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Aug 16, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr4:159593699
GRCh38:
Chr4:158672547
ETFDHnot providedLikely benign
(Sep 17, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr4:159593788
GRCh38:
Chr4:158672636
ETFDHnot providedLikely benign
(Sep 17, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr4:159593908
GRCh38:
Chr4:158672756
ETFDHnot providedLikely benign
(Sep 17, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr4:159601599-159620302
GRCh38:
Chr4:158680447-158699150
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely pathogenic
(Jul 18, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr4:159601601
GRCh38:
Chr4:158680449
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Jul 13, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr4:159601603
GRCh38:
Chr4:158680451
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Oct 5, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr4:159601604
GRCh38:
Chr4:158680452
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Oct 24, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr4:159601609-159620292
GRCh38:
Chr4:158680457-158699140
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely pathogenic
(Oct 23, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr4:159601611
GRCh38:
Chr4:158680459
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Jun 30, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr4:159601612
GRCh38:
Chr4:158680460
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Feb 5, 2019)
criteria provided, single submitter
52.
GRCh37:
Chr4:159601613
GRCh38:
Chr4:158680461
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Aug 29, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr4:159601613
GRCh38:
Chr4:158680461
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Aug 10, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr4:159601615
GRCh38:
Chr4:158680463
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Apr 26, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr4:159601616
GRCh38:
Chr4:158680464
ETFDHMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr4:159601620
GRCh38:
Chr4:158680468
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Sep 12, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr4:159601620
GRCh38:
Chr4:158680468
ETFDHY13fsGlutaric acidemia IIcPathogenic
(Jul 1, 2003)
no assertion criteria provided
58.
GRCh37:
Chr4:159601622
GRCh38:
Chr4:158680470
ETFDHY13Cnot specifiedLikely benign
(May 2, 2014)
criteria provided, single submitter
59.
GRCh37:
Chr4:159601626
GRCh38:
Chr4:158680474
ETFDHQ14HMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr4:159601627
GRCh38:
Chr4:158680475
ETFDHC15SMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr4:159601630
GRCh38:
Chr4:158680478
ETFDHF16IMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Mar 8, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr4:159601634-159601635
GRCh38:
Chr4:158680482-158680483
ETFDHA18fsnot provided, Multiple acyl-CoA dehydrogenase deficiencyPathogenic
(Feb 18, 2023)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr4:159601638
GRCh38:
Chr4:158680486
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Jun 25, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr4:159601639
GRCh38:
Chr4:158680487
ETFDHMultiple acyl-CoA dehydrogenase deficiencyPathogenic
(Sep 27, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr4:159601645
GRCh38:
Chr4:158680493
ETFDHI21FMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Apr 21, 2020)
no assertion criteria provided
66.
GRCh37:
Chr4:159601647
GRCh38:
Chr4:158680495
ETFDHMultiple acyl-CoA dehydrogenase deficiencyConflicting interpretations of pathogenicity
(Oct 14, 2022)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr4:159601650-159601651
GRCh38:
Chr4:158680498-158680499
ETFDHN24fsMultiple acyl-CoA dehydrogenase deficiencyPathogenic
(Jul 21, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr4:159601663
GRCh38:
Chr4:158680511
ETFDHP27Snot provided, Multiple acyl-CoA dehydrogenase deficiencyConflicting interpretations of pathogenicity
(Jun 22, 2023)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr4:159601668
GRCh38:
Chr4:158680516
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Nov 1, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr4:159601672
GRCh38:
Chr4:158680520
ETFDHA30TMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr4:159601675
GRCh38:
Chr4:158680523
ETFDHT31AMultiple acyl-CoA dehydrogenase deficiency, not specifiedConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr4:159601676
GRCh38:
Chr4:158680524
ETFDHT31IMultiple acyl-CoA dehydrogenase deficiency, not provided, not specified
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr4:159601682
GRCh38:
Chr4:158680530
ETFDHW33*Multiple acyl-CoA dehydrogenase deficiencyPathogenic
(Feb 10, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr4:159601684
GRCh38:
Chr4:158680532
ETFDHS34TMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr4:159601692
GRCh38:
Chr4:158680540
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Feb 2, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr4:159601698
GRCh38:
Chr4:158680546
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Jun 26, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr4:159601701
GRCh38:
Chr4:158680549
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(May 26, 2020)
criteria provided, single submitter
78.
GRCh37:
Chr4:159601705
GRCh38:
Chr4:158680553
ETFDHR41*Multiple acyl-CoA dehydrogenase deficiency, Abnormality of metabolism/homeostasisPathogenic
(Jun 18, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr4:159601706
GRCh38:
Chr4:158680554
ETFDHR41Qnot provided, Multiple acyl-CoA dehydrogenase deficiencyConflicting interpretations of pathogenicity
(Nov 3, 2022)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr4:159601709
GRCh38:
Chr4:158680557
ETFDHI42TMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Nov 26, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr4:159601713
GRCh38:
Chr4:158680561
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Apr 25, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr4:159601723
GRCh38:
Chr4:158680571
ETFDHT47AMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr4:159601726
GRCh38:
Chr4:158680574
ETFDHI48VMultiple acyl-CoA dehydrogenase deficiencyConflicting interpretations of pathogenicity
(Nov 4, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr4:159601732
GRCh38:
Chr4:158680580
ETFDHP50SMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Sep 30, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr4:159601735
GRCh38:
Chr4:158680583
ETFDHR51WMultiple acyl-CoA dehydrogenase deficiencyLikely pathogenic
(Feb 17, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr4:159601736
GRCh38:
Chr4:158680584
ETFDHR51PMultiple acyl-CoA dehydrogenase deficiencyLikely pathogenic
(Mar 26, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr4:159601736
GRCh38:
Chr4:158680584
ETFDHR51LMultiple acyl-CoA dehydrogenase deficiencyLikely pathogenic
(Oct 23, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr4:159601736
GRCh38:
Chr4:158680584
ETFDHR51QMultiple acyl-CoA dehydrogenase deficiencyLikely pathogenic
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr4:159601738
GRCh38:
Chr4:158680586
ETFDHD52NMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr4:159601741
GRCh38:
Chr4:158680589
ETFDHK53*not providedPathogenic
(Aug 26, 2015)
criteria provided, single submitter
91.
GRCh37:
Chr4:159601747-159601748
GRCh38:
Chr4:158680595-158680596
ETFDHK55fsMultiple acyl-CoA dehydrogenase deficiencyPathogenic
(Oct 13, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr4:159601748
GRCh38:
Chr4:158680596
ETFDHK55RMultiple acyl-CoA dehydrogenase deficiencyUncertain significance
(Mar 12, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr4:159601753
GRCh38:
Chr4:158680601
ETFDHW57RMultiple acyl-CoA dehydrogenase deficiencyLikely pathogenic
(Aug 24, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr4:159601755
GRCh38:
Chr4:158680603
ETFDHW57*not providedPathogenic
(Aug 8, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr4:159601756
GRCh38:
Chr4:158680604
ETFDHE58*Multiple acyl-CoA dehydrogenase deficiencyPathogenic
(Jul 21, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr4:159601759
GRCh38:
Chr4:158680607
ETFDHMultiple acyl-CoA dehydrogenase deficiency, not providedPathogenic/Likely pathogenic
(Aug 1, 2021)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr4:159601760
GRCh38:
Chr4:158680608
ETFDHnot providedPathogenic
(Mar 28, 2013)
criteria provided, single submitter
98.
GRCh37:
Chr4:159601762
GRCh38:
Chr4:158680610
ETFDHnot provided, Multiple acyl-CoA dehydrogenase deficiencyLikely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr4:159601774
GRCh38:
Chr4:158680622
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Aug 23, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr4:159601777
GRCh38:
Chr4:158680625
ETFDHMultiple acyl-CoA dehydrogenase deficiencyLikely benign
(Dec 15, 2021)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination