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Items: 1 to 100 of 125

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:118986724-190828225
GRCh38:
Chr4:118065569-190042639
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, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC101929762, LOC105377448, LOC105377458, LOC105377480, LOC105377488, LOC105377590, LOC105377622, LOC105377623, LOC107986192, LOC107992388, LOC108281188, LOC108281192, LOC109113863, LOC110120796, LOC110120799, LOC110121078, LOC110121089, LOC110121129, LOC110121150, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111413048, LOC111556115, LOC112935977, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158507, LOC116158508, LOC116158509, LOC116158510, LOC121056741, LOC121056742, LOC121056743, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, 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, SPOCK3, SPRY1, STOX2, SYNPO2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, 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, 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, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CCNA2, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, CYP4V2, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, EXOSC9, F11, F11-AS1, FABP2, FAM149A, FAM218A, FAT1, FAT4, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGF2, FGG, FHDC1, FHIP1A, FHIP1A-DT, FLJ38576, FNIP2, FREM3, FRG1, FRG1-DT, FRG2, FSTL5, GAB1, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, 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, LINC00499, LINC00500, 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
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, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CCNA2, CDKN2AIP, CENPU, CEP44, CFAP97, SMARCA5-AS1, SMIM31, SMIM43, SNHG27, SNORD73A, SNORD73B, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, SPRY1, STOX2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, 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, 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, LINC00499, LINC00500, 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, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC105377448, LOC105377458, LOC105377480, LOC105377488, LOC105377590, LOC105377622, LOC105377623, LOC107992388, LOC108281188, LOC108281192, LOC109113863, LOC110120796, LOC110120799, LOC110121078, LOC110121089, LOC110121129, LOC110121150, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111413048, LOC111556115, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158507, LOC116158508, LOC116158509, LOC116158510, LOC121056742, LOC121056743, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr4:126354098-186683041
GRCh38:
Chr4:125432943-185761887
AADAT, ABCE1, ABHD18, ACSL1, ADAM29, AGA, AGA-DT, ANAPC10, ANKRD37, ANP32C, ANXA10, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, C4orf33, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, FAM218A, FAT4, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FNIP2, FREM3, FSTL5, GAB1, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, 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, LINC00499, LINC00500, 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, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC105377448, LOC105377458, LOC105377480, LOC105377488, LOC105377590, LOC105377622, LOC105377623, LOC107992388, LOC108281188, LOC108281192, LOC110120796, LOC110120799, LOC110121078, LOC110121089, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111413048, LOC111556115, LOC112939918, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158508, LOC116158509, LOC116158510, LOC121056743, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, 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, SPOCK3, STOX2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, 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
See casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
4.
GRCh37:
Chr4:132906408-190828225
GRCh38:
Chr4:131985253-190095391
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, SPOCK3, STOX2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, 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, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, CYP4V2, DBET, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FLJ38576, FNIP2, FREM3, FRG1, FRG1-DT, FRG2, FSTL5, GAB1, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, 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, LINC00499, LINC00500, 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, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC105377448, LOC105377458, LOC105377480, LOC105377488, LOC105377590, LOC105377622, LOC105377623, LOC107992388, LOC108281188, LOC108281192, LOC110120796, LOC110120799, LOC110121078, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111556115, LOC112939918, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158508, LOC116158509, LOC116158510, LOC121056743, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, 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
See casesPathogenic
(Aug 29, 2011)
no assertion criteria provided
5.
GRCh37:
Chr4:135856771-190957473
GRCh38:
Chr4:134935616-190036318
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, LINC00499, LINC00500, 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, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC105377448, LOC105377458, LOC105377480, LOC105377488, LOC105377590, LOC105377622, LOC105377623, LOC107992388, LOC108281188, LOC108281192, LOC110120796, LOC110120799, LOC110121078, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111556115, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158508, LOC116158509, LOC116158510, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, 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, SPCS3, SPOCK3, STOX2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, 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, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, CYP4V2, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FLJ38576, FNIP2, FREM3, FRG1, FRG1-DT, FRG2, FSTL5, GAB1, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1
See casesPathogenic
(Aug 19, 2013)
no assertion criteria provided
6.
GRCh37:
Chr4:139431686-190828225
GRCh38:
Chr4:138510532-189963195
APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, CYP4V2, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FLJ38576, FNIP2, FREM3, FRG1, FRG1-DT, FSTL5, GAB1, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, 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, LOC105377448, LOC105377458, LOC105377480, LOC105377488, LOC105377590, LOC105377622, LOC105377623, LOC107992388, LOC108281188, LOC108281192, LOC110120796, LOC110120799, LOC110121078, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111556115, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158508, LOC116158509, LOC116158510, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, 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, SCRG1, SETD7, SFRP2, SH3D19, SH3RF1, SLC10A7, SLC25A4, SMAD1, SMAD1-AS1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMIM31, SNORD73A, SNORD73B, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, STOX2, TBC1D9, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, 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
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, C4orf45, C4orf46, C4orf47, C4orf51, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CPE, CTSO, CYP4V2, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ENPP6, ETFDH, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGG, FHDC1, FHIP1A, FHIP1A-DT, FLJ38576, FNIP2, FRG1, FRG1-DT, FSTL5, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, 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, LOC105377480, LOC105377488, LOC105377590, LOC107992388, LOC108281188, LOC108281192, LOC110120796, LOC110121078, LOC110121159, LOC110121190, LOC110121259, LOC111556115, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158509, LOC116158510, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, 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, SPOCK3, STOX2, TDO2, TEMN3-AS1, TENM3, TENM3-AS1, 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
AADAT, ANP32C, ANXA10, APELA, ARFIP1, ARHGAP10, ASIC5, C4orf45, 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, LOC105377480, LOC105377488, LOC108281188, LOC110121078, LOC110121159, LOC110121190, LOC110121259, LOC111556115, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC114827822, LOC114827833, LOC116158509, LOC121056744, 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, SPOCK3, TDO2, TIGD4, TKTL2, TLL1, TLR2, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM184C-DT, TMEM192, TRIM2, TRIM60, TRIM61, TRIM75
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr4:156084134-171880704
GRCh38:
Chr4:155162982-170959553
See casesPathogenic
(Jun 25, 2013)
no assertion criteria provided
10.
GRCh37:
Chr4:159309080-167766877
GRCh38:
Chr4:158387928-166845726
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
11.
GRCh37:
Chr4:161678851-191012562
GRCh38:
Chr4:160757699-190091407
AADAT, ACSL1, ADAM29, AGA, AGA-DT, ANKRD37, ANP32C, ANXA10, APELA, ASB5, C4orf47, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CPE, CYP4V2, DBET, DCTD, DDX60, DDX60L, ENPP6, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FLJ38576, FRG1, FRG1-DT, FRG2, FSTL5, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GK3, GLRA3, GPM6A, GPM6A-DT, HAFML, HAND2, HAND2-AS1, HELT, HMGB2, HPF1, HPGD, ING2, ING2-DT, IRF2, KLHL2, KLKB1, LINC00290, LINC01060, LINC01093, LINC01098, LINC01099, LINC01179, LINC01262, LINC01596, LINC01612, LINC02174, LINC02268, LINC02269, LINC02275, LINC02362, LINC02363, LINC02365, LINC02374, LINC02382, LINC02427, LINC02431, LINC02434, LINC02436, LINC02492, LINC02500, LINC02504, LINC02508, LINC02509, LINC02514, LINC02515, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC105377590, LOC107992388, LOC108281192, LOC110120796, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827833, LOC114827834, LOC116158509, LOC116158510, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC121725193, LOC121725194, LOC121725195, LOC121725196, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC123493255, LOC126088085, 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, LOC339975, LOC441052, LRP2BP, MARCHF1, MFAP3L, MIR1305, MIR3945, MIR3945HG, MIR4276, MIR4454, MIR4455, MIR548T, MIR578, MIR6082, MSMO1, MTNR1A, NAF1, NEIL3, NEK1, NPY1R, NPY5R, PALLD, PDLIM3, PRIMPOL, RWDD4, SAP30, SAP30-DT, SCRG1, SH3RF1, SLC25A4, SMIM31, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, STOX2, TEMN3-AS1, TENM3, TENM3-AS1, TKTL2, TLL1, TLR3, TMA16, TMEM192, TRAPPC11, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, UFSP2, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
12.
GRCh37:
Chr4:162934372-190828225
GRCh38:
Chr4:162013220-189975519
AADAT, ACSL1, ADAM29, AGA, AGA-DT, ANKRD37, ANP32C, ANXA10, APELA, ASB5, C4orf47, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CPE, CYP4V2, DCTD, DDX60, DDX60L, ENPP6, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FLJ38576, FRG1, FRG1-DT, FSTL5, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GK3, GLRA3, GPM6A, GPM6A-DT, HAFML, HAND2, HAND2-AS1, HELT, HMGB2, HPF1, HPGD, ING2, ING2-DT, IRF2, KLHL2, KLKB1, LINC00290, LINC01060, LINC01093, LINC01098, LINC01099, LINC01179, LINC01262, LINC01596, LINC01612, LINC02174, LINC02268, LINC02269, LINC02275, LINC02362, LINC02363, LINC02365, LINC02374, LINC02382, LINC02427, LINC02431, LINC02434, LINC02436, LINC02492, LINC02500, LINC02504, LINC02508, LINC02509, LINC02514, LINC02515, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC105377590, LOC107992388, LOC108281192, LOC110120796, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827833, LOC114827834, LOC116158509, LOC116158510, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC121725194, LOC121725195, LOC121725196, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC126088085, 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, LOC339975, LOC441052, LRP2BP, MARCHF1, MFAP3L, MIR1305, MIR3945, MIR3945HG, MIR4276, MIR4454, MIR4455, MIR548T, MIR578, MIR6082, MSMO1, MTNR1A, NAF1, NEIL3, NEK1, NPY1R, NPY5R, PALLD, PDLIM3, PRIMPOL, RWDD4, SAP30, SAP30-DT, SCRG1, SH3RF1, SLC25A4, SMIM31, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, STOX2, TEMN3-AS1, TENM3, TENM3-AS1, TKTL2, TLL1, TLR3, TMA16, TMEM192, TRAPPC11, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, UFSP2, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr4:163644970-173422584
GRCh38:
Chr4:162723818-172501433
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
14.
GRCh37:
Chr4:164960682-190828225
GRCh38:
Chr4:164039530-189982708
AADAT, ACSL1, ADAM29, AGA, AGA-DT, ANKRD37, ANP32C, ANXA10, APELA, ASB5, C4orf47, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CPE, CYP4V2, DCTD, DDX60, DDX60L, ENPP6, F11, F11-AS1, FAM149A, FAM218A, FAT1, FBXO8, FLJ38576, FRG1, FRG1-DT, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GK3, GLRA3, GPM6A, GPM6A-DT, HAFML, HAND2, HAND2-AS1, HELT, HMGB2, HPF1, HPGD, ING2, ING2-DT, IRF2, KLHL2, KLKB1, LINC00290, LINC01060, LINC01093, LINC01098, LINC01099, LINC01179, LINC01262, LINC01596, LINC01612, LINC02174, LINC02268, LINC02269, LINC02275, LINC02362, LINC02363, LINC02365, LINC02374, LINC02382, LINC02427, LINC02431, LINC02434, LINC02436, LINC02492, LINC02500, LINC02504, LINC02508, LINC02509, LINC02514, LINC02515, LOC101928131, LOC101928198, LOC101928551, LOC105377590, LOC107992388, LOC108281192, LOC110120796, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827833, LOC114827834, LOC116158510, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC121725194, LOC121725195, LOC121725196, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC126088085, 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, LOC339975, LOC441052, LRP2BP, MARCHF1, MFAP3L, MIR1305, MIR3945, MIR3945HG, MIR4276, MIR4455, MIR548T, MIR578, MIR6082, MSMO1, MTNR1A, NEIL3, NEK1, PALLD, PDLIM3, PRIMPOL, RWDD4, SAP30, SAP30-DT, SCRG1, SH3RF1, SLC25A4, SMIM31, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, STOX2, TEMN3-AS1, TENM3, TENM3-AS1, TLL1, TLR3, TMEM192, TRAPPC11, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, UFSP2, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
15.
GRCh37:
Chr4:165758795-168497456
GRCh38:
Chr4:164837643-167576305
See casesUncertain significance
(Mar 18, 2014)
no assertion criteria provided
16.
GRCh37:
Chr4:166202188-190939340
GRCh38:
Chr4:165281036-190018185
AADAT, ACSL1, ADAM29, AGA, AGA-DT, ANKRD37, ANXA10, ASB5, C4orf47, CASP3, CBR4, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP97, CLCN3, CLDN22, CLDN24, CPE, CYP4V2, DCTD, DDX60, DDX60L, ENPP6, F11, F11-AS1, FAM149A, FAT1, FBXO8, FLJ38576, FRG1, FRG1-DT, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GLRA3, GPM6A, GPM6A-DT, HAFML, HAND2, HAND2-AS1, HELT, HMGB2, HPF1, HPGD, ING2, ING2-DT, IRF2, KLHL2, KLKB1, LINC00290, LINC01060, LINC01093, LINC01098, LINC01099, LINC01179, LINC01262, LINC01596, LINC01612, LINC02174, LINC02268, LINC02269, LINC02275, LINC02362, LINC02363, LINC02365, LINC02374, LINC02382, LINC02427, LINC02431, LINC02434, LINC02436, LINC02492, LINC02500, LINC02504, LINC02508, LINC02509, LINC02514, LINC02515, LOC101928131, LOC101928198, LOC101928551, LOC105377590, LOC107992388, LOC108281192, LOC110120796, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827833, LOC114827834, LOC116158510, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC121725194, LOC121725195, LOC121725196, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC123493255, LOC126088085, 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, LOC339975, LOC441052, LRP2BP, MFAP3L, MIR1305, MIR3945, MIR3945HG, MIR4276, MIR4455, MIR548T, MIR578, MIR6082, MSMO1, MTNR1A, NEIL3, NEK1, PALLD, PDLIM3, PRIMPOL, RWDD4, SAP30, SAP30-DT, SCRG1, SH3RF1, SLC25A4, SNX25, SORBS2, SPATA4, SPCS3, SPOCK3, STOX2, TEMN3-AS1, TENM3, TENM3-AS1, TLL1, TLR3, TRAPPC11, TRIML1, TRIML2, UFSP2, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
17.
GRCh37:
Chr4:166794829
GRCh38:
Chr4:165873677
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr4:166795070
GRCh38:
Chr4:165873918
TLL1T5KInborn genetic diseasesLikely benign
(Apr 8, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr4:166795149
GRCh38:
Chr4:165873997
TLL1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
20.
GRCh37:
Chr4:166910614
GRCh38:
Chr4:165989462
TLL1N84IInborn genetic diseasesUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr4:166913995
GRCh38:
Chr4:165992843
TLL1A107VInborn genetic diseasesUncertain significance
(May 6, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr4:166915853
GRCh38:
Chr4:165994701
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr4:166916222
GRCh38:
Chr4:165995070
TLL1R175TInborn genetic diseasesUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr4:166916242
GRCh38:
Chr4:165995090
TLL1M182Vnot specified, Inborn genetic diseasesUncertain significance
(Nov 10, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr4:166916242
GRCh38:
Chr4:165995090
TLL1M182LAtrial septal defect 6Pathogenic
(Mar 1, 2009)
no assertion criteria provided
26.
GRCh37:
Chr4:166916306
GRCh38:
Chr4:165995154
TLL1I203TInborn genetic diseasesUncertain significance
(Aug 17, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr4:166924623
GRCh38:
Chr4:166003471
TLL1V238Anot providedLikely pathogenic
(Jun 1, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr4:166924719
GRCh38:
Chr4:166003567
TLL1P270Rnot providedUncertain significanceno assertion criteria provided
29.
GRCh37:
Chr4:166924727
GRCh38:
Chr4:166003575
TLL1not specified, not providedBenign/Likely benignno assertion criteria provided
30.
GRCh37:
Chr4:166928911
GRCh38:
Chr4:166007759
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr4:166929209
GRCh38:
Chr4:166008057
TLL1not providedBenign
(Sep 12, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr4:166929276
GRCh38:
Chr4:166008124
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr4:166935592
GRCh38:
Chr4:166014440
TLL1M308VInborn genetic diseasesUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr4:166935620
GRCh38:
Chr4:166014468
LOC123493235, TLL1R317HInborn genetic diseasesUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr4:166935661
GRCh38:
Chr4:166014509
LOC123493235, TLL1R331CInborn genetic diseasesUncertain significance
(May 1, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr4:166946484
GRCh38:
Chr4:166025332
TLL1not providedUncertain significance
(May 1, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr4:166946775
GRCh38:
Chr4:166025623
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr4:166960363
GRCh38:
Chr4:166039211
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr4:166964424
GRCh38:
Chr4:166043272
LOC126807212, TLL1Atrial septal defect 6Pathogeniccriteria provided, single submitter
40.
GRCh37:
Chr4:166964446
GRCh38:
Chr4:166043294
LOC126807212, TLL1R467CAtrial septal defect 6Uncertain significance
(Dec 3, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr4:166964461
GRCh38:
Chr4:166043309
LOC126807212, TLL1Q472*Atrial septal defect 6Uncertain significance
(Apr 22, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr4:166976065
GRCh38:
Chr4:166054913
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr4:166976300
GRCh38:
Chr4:166055148
TLL1I533LInborn genetic diseasesUncertain significance
(Dec 19, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr4:166976331
GRCh38:
Chr4:166055179
TLL1E543AInborn genetic diseasesUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr4:166976372
GRCh38:
Chr4:166055220
TLL1V557LAtrial septal defect 6Uncertain significance
(Jul 1, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr4:166978329
GRCh38:
Chr4:166057177
TLL1not providedLikely benign
(Dec 27, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr4:166978344
GRCh38:
Chr4:166057192
TLL1E577KAtrial septal defect 6Uncertain significance
(Oct 19, 2020)
criteria provided, single submitter
48.
GRCh37:
Chr4:166978362
GRCh38:
Chr4:166057210
TLL1R583CInborn genetic diseasesUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr4:166978397
GRCh38:
Chr4:166057245
TLL1not providedLikely benignno assertion criteria provided
50.
GRCh37:
Chr4:166978540
GRCh38:
Chr4:166057388
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr4:166980967
GRCh38:
Chr4:166059815
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr4:166981044
GRCh38:
Chr4:166059892
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr4:166981189
GRCh38:
Chr4:166060037
TLL1G619DInborn genetic diseasesUncertain significance
(Dec 15, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr4:166981218
GRCh38:
Chr4:166060066
TLL1I629VAtrial septal defect 6Pathogenic
(Mar 1, 2009)
no assertion criteria provided
55.
GRCh37:
Chr4:166981643
GRCh38:
Chr4:166060491
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr4:166986693
GRCh38:
Chr4:166065541
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr4:166986871
GRCh38:
Chr4:166065719
TLL1L682IAtrial septal defect 6Uncertain significance
(Dec 21, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr4:166986900
GRCh38:
Chr4:166065748
TLL1not providedBenign
(Jan 30, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr4:166986908
GRCh38:
Chr4:166065756
TLL1G694DInborn genetic diseasesUncertain significance
(Nov 21, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr4:166986916
GRCh38:
Chr4:166065764
TLL1V697MInborn genetic diseasesUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr4:166986965
GRCh38:
Chr4:166065813
TLL1K713RInborn genetic diseasesUncertain significance
(Jul 9, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr4:166987022
GRCh38:
Chr4:166065870
TLL1not providedBenign
(Jan 30, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr4:166987125
GRCh38:
Chr4:166065973
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr4:166996077
GRCh38:
Chr4:166074925
TLL1V746FInborn genetic diseasesUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr4:166996085
GRCh38:
Chr4:166074933
TLL1not providedBenign
(Jan 30, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr4:166996108
GRCh38:
Chr4:166074956
TLL1C756SInborn genetic diseasesUncertain significance
(Aug 16, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr4:166996347
GRCh38:
Chr4:166075195
TLL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr4:166996414
GRCh38:
Chr4:166075262
TLL1not providedBenign