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Items: 1 to 100 of 211

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:61793-10749516
GRCh38:
Chr11:61793-10727969
LOC130005128, LOC130005129, LOC130005130, LOC130005131, LOC130005132, LOC130005133, LOC130005134, LOC130005135, LOC130005136, LOC130005137, LOC130005138, LOC130005139, LOC130005140, LOC130005141, LOC130005142, LOC130005143, LOC130005144, LOC130005145, LOC130005146, LOC130005147, LOC130005148, LOC130005149, LOC130005150, LOC130005151, LOC130005152, LOC130005153, LOC130005154, LOC130005155, LOC130005156, LOC130005157, LOC130005158, LOC130005159, LOC130005160, LOC130005161, LOC130005162, LOC130005163, LOC130005164, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, LOC130005174, LOC130005175, LOC130005176, LOC130005177, LOC130005178, LOC130005179, LOC130005180, LOC130005181, LOC130005182, LOC130005183, LOC130005184, LOC130005185, LOC130005186, LOC130005187, LOC130005188, LOC130005189, LOC130005190, LOC130005191, LOC130005192, LOC130005193, LOC130005194, LOC130005195, LOC130005196, LOC130005197, LOC130005198, LOC130005199, LOC130005200, LOC130005201, LOC130005202, LOC130005203, LOC130005204, LOC130005205, LOC130005206, LOC130005207, LOC130005208, LOC130005209, LOC130005210, LOC130005211, LOC130005212, LOC130005213, LOC130005214, LOC130005215, LOC130005216, LOC130005217, LOC130005218, LOC130005219, LOC130005220, LOC130005221, LOC130005222, LOC130005223, LOC130005224, LOC130005225, LOC130005226, LOC130005227, LOC130005228, LOC130005229, LOC130005230, LOC130005231, LOC130005232, LOC130005233, LOC130005234, LOC130005235, LOC130005236, LOC130005237, LOC130005238, LOC130005239, LOC130005240, LOC130005241, LOC130005242, LOC130005243, LOC130005244, LOC130005245, LOC130005246, LOC130005247, LOC130005248, LOC130005249, LOC130005250, LOC130005251, LOC130005252, LOC130005253, LOC130005254, LOC130005255, LOC130005256, LOC130005257, LOC130005258, LOC130005259, LOC130005260, LOC130005261, LOC130005262, LOC130005263, LOC130005264, LOC130005265, LOC130005266, LOC130005267, LOC130005268, LOC130005269, LOC130005270, LOC130005271, LOC130005272, LOC130005273, LOC130005274, LOC130005275, LOC130005276, LOC130005277, LOC130005278, LOC130005279, LOC130005280, LOC130005281, LOC130005282, LOC130005283, LOC130005284, LOC130005285, LOC130005286, LOC130005287, LOC130005288, LOC130005289, LOC130005290, LOC130005291, LOC130005292, LOC130005293, LOC130005294, LOC130005295, LOC130005296, LOC130005297, LOC130005298, LOC130005299, LOC130005300, LOC130005301, LOC130005302, LOC130005303, LOC130005304, LOC130005305, LOC130005306, LOC130005307, LOC130005308, LOC130005309, LOC130005310, LOC130005311, LOC130005312, LOC130005313, LOC130005314, LOC130005315, LOC130005316, LOC130005317, LOC130005318, LOC130005319, LOC130005320, LOC130005321, LOC130005322, LOC130005323, LOC130005324, LOC130005325, LOC130005326, LOC130005327, LOC130005328, LOC130005329, LOC130005330, LOC132089927, LOC132089930, LOC132089931, LOC132090831, LOC132090832, LOC143666, LOC283299, LOC644656, LRRC56, LSP1, LYVE1, MIR210, MIR210HG, MIR302E, MIR4298, MIR4485, MIR4686, MIR4687, MIR483, MIR5691, MIR6743, MIR6744, MIR675, MIR7847, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL17, MRPL23, MRPL23-AS1, MTRNR2L8, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NRIP3, NRIP3-DT, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51C1P, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51J1, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E1, OR52E2, OR52E4, OR52E5, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52P1, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B2P, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PANO1, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RIC3-DT, RIC8A, RNF141, RNH1, RPL27A, RPLP2, RRM1, RRP8, SBF2, SBF2-AS1, SCGB1C1, SCT, SCUBE2, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA23, SNORA3A, SNORA3B, SNORA52, SNORA54, SNORD131, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, STK33, SWAP70, SYT8, SYT9, SYT9-AS1, TAF10, TALDO1, TH, TIMM10B, TMEM41B, TMEM80, TMEM9B, TMEM9B-AS1, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRL-CAA5-1, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, TUB-AS1, UBQLN3, UBQLNL, WEE1, ZNF143, ZNF195, ZNF214, ZNF215, A-GAMMA3'E, ADM, ADM-DT, AKIP1, AMPD3, ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BET1L, BGLT3, BRSK2, C11orf16, C11orf21, C11orf40, C11orf42, CAND1.11, CARS1, CARS1-AS1, CASC23, CAVIN3, CCKBR, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CIMAP1A, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DENND2B, DENND2B-AS1, DENND5A, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FAM99A, FAM99B, FHIP1B, GATD1, GATD1-DT, H19, H19-ICR, HBB, HBB-3'HS1, HBB-HS-107, HBB-HS-111, HBB-LCR, HBD, HBE1, HBG1, HBG2, HOTS, HPX, HRAS, HS-E1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, ILK, INS, INS-IGF2, IPO7, IRAG1, IRAG1-AS1, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01001, LINC01150, LINC01219, LINC02688, LINC02708, LINC02709, LINC02749, LMNTD2, LMNTD2-AS1, LMO1, LOC101927708, LOC101928008, LOC105274310, LOC105369149, LOC105376526, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110121378, LOC110121453, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC112081400, LOC112081404, LOC112081405, LOC112136080, LOC112136081, LOC112136092, LOC112136094, LOC113939920, LOC113939924, LOC113939927, LOC113939928, LOC114827852, LOC116216126, LOC116216127, LOC116216128, LOC116216129, LOC121392887, LOC121392888, LOC121392889, LOC121392890, LOC121832782, LOC121832783, LOC121832784, LOC121832785, LOC121832786, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC124418422, LOC124418423, LOC124418426, LOC124421482, LOC124421483, LOC124421484, LOC124421485, LOC124421486, LOC124902806, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC126861117, LOC126861118, LOC126861119, LOC126861120, LOC126861121, LOC126861122, LOC126861123, LOC126861124, LOC126861125, LOC126861126, LOC126861127, LOC126861128, LOC126861129, LOC126861130, LOC126861131, LOC126861132, LOC126861133, LOC126861134, LOC126861135, LOC126861136, LOC126861137, LOC126861138, LOC126861139, LOC129388416, LOC129388417, LOC129390245, LOC129390246, LOC129390247, LOC129390248, LOC129390249, LOC129390250, LOC129390251, LOC129390252, LOC129390253, LOC129390254, LOC129390255, LOC129390256, LOC129390257, LOC129390258, LOC130005037, LOC130005038, LOC130005039, LOC130005040, LOC130005041, LOC130005042, LOC130005043, LOC130005044, LOC130005045, LOC130005046, LOC130005047, LOC130005048, LOC130005049, LOC130005050, LOC130005051, LOC130005052, LOC130005053, LOC130005054, LOC130005055, LOC130005056, LOC130005057, LOC130005058, LOC130005059, LOC130005060, LOC130005061, LOC130005062, LOC130005063, LOC130005064, LOC130005065, LOC130005066, LOC130005067, LOC130005068, LOC130005069, LOC130005070, LOC130005071, LOC130005072, LOC130005073, LOC130005074, LOC130005075, LOC130005076, LOC130005077, LOC130005078, LOC130005079, LOC130005080, LOC130005081, LOC130005082, LOC130005083, LOC130005084, LOC130005085, LOC130005086, LOC130005087, LOC130005088, LOC130005089, LOC130005090, LOC130005091, LOC130005092, LOC130005093, LOC130005094, LOC130005095, LOC130005096, LOC130005097, LOC130005098, LOC130005099, LOC130005100, LOC130005101, LOC130005102, LOC130005103, LOC130005104, LOC130005105, LOC130005106, LOC130005107, LOC130005108, LOC130005109, LOC130005110, LOC130005111, LOC130005112, LOC130005113, LOC130005114, LOC130005115, LOC130005116, LOC130005117, LOC130005118, LOC130005119, LOC130005120, LOC130005121, LOC130005122, LOC130005123, LOC130005124, LOC130005125, LOC130005126, LOC130005127
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
2.
GRCh37:
Chr11:196855-2137415
GRCh38:
Chr11:196855-2116185
LOC130005123, LOC130005124, LOC130005125, LOC130005126, LOC130005127, LOC130005128, LOC130005129, LOC130005130, LOC130005131, LOC132090831, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR6743, MIR6744, MIR675, MIR7847, MOB2, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NLRP6, PANO1, PGGHG, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RIC8A, RNH1, RPLP2, SCT, SIGIRR, SIRT3, SLC25A22, SNORA52, SNORD131, SYT8, TALDO1, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TSPAN4, ANO9, AP2A2, B4GALNT4, BET1L, BRSK2, CD151, CDHR5, CEND1, CHID1, CIMAP1A, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, H19, H19-ICR, HOTS, IRF7, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02688, LINC02708, LMNTD2, LMNTD2-AS1, LOC105274310, LOC110121378, LOC111718490, LOC116216126, LOC121392887, LOC121392888, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC129390246, LOC129390247, LOC130005037, LOC130005038, LOC130005039, LOC130005040, LOC130005041, LOC130005042, LOC130005043, LOC130005044, LOC130005045, LOC130005046, LOC130005047, LOC130005048, LOC130005049, LOC130005050, LOC130005051, LOC130005052, LOC130005053, LOC130005054, LOC130005055, LOC130005056, LOC130005057, LOC130005058, LOC130005059, LOC130005060, LOC130005061, LOC130005062, LOC130005063, LOC130005064, LOC130005065, LOC130005066, LOC130005067, LOC130005068, LOC130005069, LOC130005070, LOC130005071, LOC130005072, LOC130005073, LOC130005074, LOC130005075, LOC130005076, LOC130005077, LOC130005078, LOC130005079, LOC130005080, LOC130005081, LOC130005082, LOC130005083, LOC130005084, LOC130005085, LOC130005086, LOC130005087, LOC130005088, LOC130005089, LOC130005090, LOC130005091, LOC130005092, LOC130005093, LOC130005094, LOC130005095, LOC130005096, LOC130005097, LOC130005098, LOC130005099, LOC130005100, LOC130005101, LOC130005102, LOC130005103, LOC130005104, LOC130005105, LOC130005106, LOC130005107, LOC130005108, LOC130005109, LOC130005110, LOC130005111, LOC130005112, LOC130005113, LOC130005114, LOC130005115, LOC130005116, LOC130005117, LOC130005118, LOC130005119, LOC130005120, LOC130005121, LOC130005122
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
3.
GRCh37:
Chr11:196855-5343104
GRCh38:
Chr11:196855-5321874
LOC106799843, LOC106865369, LOC107133510, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110121378, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC113939920, LOC116216126, LOC116216127, LOC116216128, LOC121392887, LOC121392888, LOC121832782, LOC121832783, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC126861117, LOC126861118, LOC129388416, LOC129388417, LOC129390246, LOC129390247, LOC129390248, LOC129390249, LOC129390250, LOC129390251, LOC130005037, LOC130005038, LOC130005039, LOC130005040, LOC130005041, LOC130005042, LOC130005043, LOC130005044, LOC130005045, LOC130005046, LOC130005047, LOC130005048, LOC130005049, LOC130005050, LOC130005051, LOC130005052, LOC130005053, LOC130005054, LOC130005055, LOC130005056, LOC130005057, LOC130005058, LOC130005059, LOC130005060, LOC130005061, LOC130005062, LOC130005063, LOC130005064, LOC130005065, LOC130005066, LOC130005067, LOC130005068, LOC130005069, LOC130005070, LOC130005071, LOC130005072, LOC130005073, LOC130005074, LOC130005075, LOC130005076, LOC130005077, LOC130005078, LOC130005079, LOC130005080, LOC130005081, LOC130005082, LOC130005083, LOC130005084, LOC130005085, LOC130005086, LOC130005087, LOC130005088, LOC130005089, LOC130005090, LOC130005091, LOC130005092, LOC130005093, LOC130005094, LOC130005095, LOC130005096, LOC130005097, LOC130005098, LOC130005099, LOC130005100, LOC130005101, LOC130005102, LOC130005103, LOC130005104, LOC130005105, LOC130005106, LOC130005107, LOC130005108, LOC130005109, LOC130005110, LOC130005111, LOC130005112, LOC130005113, LOC130005114, LOC130005115, LOC130005116, LOC130005117, LOC130005118, LOC130005119, LOC130005120, LOC130005121, LOC130005122, LOC130005123, LOC130005124, LOC130005125, LOC130005126, LOC130005127, LOC130005128, LOC130005129, LOC130005130, LOC130005131, LOC130005132, LOC130005133, LOC130005134, LOC130005135, LOC130005136, LOC130005137, LOC130005138, LOC130005139, LOC130005140, LOC130005141, LOC130005142, LOC130005143, LOC130005144, LOC130005145, LOC130005146, LOC130005147, LOC130005148, LOC130005149, LOC130005150, LOC130005151, LOC130005152, LOC130005153, LOC130005154, LOC130005155, LOC130005156, LOC130005157, LOC130005158, LOC130005159, LOC130005160, LOC130005161, LOC130005162, LOC130005163, LOC130005164, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, LOC130005174, LOC130005175, LOC130005176, LOC130005177, LOC130005178, LOC130005179, LOC130005180, LOC130005181, LOC132089927, LOC132089930, LOC132089931, LOC132090831, LOC132090832, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR4687, MIR483, MIR6743, MIR6744, MIR675, MIR7847, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, NUP98, OR51A2, OR51A4, OR51A7, OR51B4, OR51C1P, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51L1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B4, OR52E1, OR52E2, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52M1, OR52R1, OSBPL5, PANO1, PGAP2, PGGHG, PRADX, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRR33, PSMD13, PTDSS2, RASSF7, RHOG, RIC8A, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRIM21, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195, A-GAMMA3'E, ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BET1L, BGLT3, BRSK2, C11orf21, C11orf40, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CIMAP1A, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, H19, H19-ICR, HBB, HBB-3'HS1, HBB-LCR, HBD, HBE1, HBG1, HBG2, HOTS, HRAS, HS-E1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, KCNQ1DN, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02688, LINC02708, LINC02749, LMNTD2, LMNTD2-AS1, LOC101927708, LOC105274310, LOC105376526, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC106783508
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
4.
GRCh37:
Chr11:196966-3398307
GRCh38:
Chr11:196966-3377077
LOC106783508, LOC106799843, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC113939920, LOC116216126, LOC116216127, LOC121392887, LOC121392888, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC129390246, LOC129390247, LOC129390248, LOC129390249, LOC129390250, LOC130005037, LOC130005038, LOC130005039, LOC130005040, LOC130005041, LOC130005042, LOC130005043, LOC130005044, LOC130005045, LOC130005046, LOC130005047, LOC130005048, LOC130005049, LOC130005050, LOC130005051, LOC130005052, LOC130005053, LOC130005054, LOC130005055, LOC130005056, LOC130005057, LOC130005058, LOC130005059, LOC130005060, LOC130005061, LOC130005062, LOC130005063, LOC130005064, LOC130005065, LOC130005066, LOC130005067, LOC130005068, LOC130005069, LOC130005070, LOC130005071, LOC130005072, LOC130005073, LOC130005074, LOC130005075, LOC130005076, LOC130005077, LOC130005078, LOC130005079, LOC130005080, LOC130005081, LOC130005082, LOC130005083, LOC130005084, LOC130005085, LOC130005086, LOC130005087, LOC130005088, LOC130005089, LOC130005090, LOC130005091, LOC130005092, LOC130005093, LOC130005094, LOC130005095, LOC130005096, LOC130005097, LOC130005098, LOC130005099, LOC130005100, LOC130005101, LOC130005102, LOC130005103, LOC130005104, LOC130005105, LOC130005106, LOC130005107, LOC130005108, LOC130005109, LOC130005110, LOC130005111, LOC130005112, LOC130005113, LOC130005114, LOC130005115, LOC130005116, LOC130005117, LOC130005118, LOC130005119, LOC130005120, LOC130005121, LOC130005122, LOC130005123, LOC130005124, LOC130005125, LOC130005126, LOC130005127, LOC130005128, LOC130005129, LOC130005130, LOC130005131, LOC130005132, LOC130005133, LOC130005134, LOC130005135, LOC130005136, LOC130005137, LOC130005138, LOC130005139, LOC130005140, LOC130005141, LOC130005142, LOC130005143, LOC130005144, LOC130005145, LOC130005146, LOC130005147, LOC130005148, LOC130005149, LOC132089927, LOC132089930, LOC132089931, LOC132090831, LOC132090832, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR483, MIR6743, MIR6744, MIR675, MIR7847, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, OSBPL5, PANO1, PGGHG, PRADX, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRR33, PSMD13, PTDSS2, RASSF7, RIC8A, RNH1, RPLP2, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195, ANO9, AP2A2, ASCL2, B4GALNT4, BET1L, BRSK2, C11orf21, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CIMAP1A, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, H19, H19-ICR, HOTS, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02688, LINC02708, LMNTD2, LMNTD2-AS1, LOC105274310
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr11:196966-4456574
GRCh38:
Chr11:196966-4435344
ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BET1L, BRSK2, C11orf21, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CIMAP1A, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, H19, H19-ICR, HOTS, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02688, LINC02708, LINC02749, LMNTD2, LMNTD2-AS1, LOC101927708, LOC105274310, LOC105376526, LOC106783508, LOC106799843, LOC106865369, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC113939920, LOC116216126, LOC116216127, LOC121392887, LOC121392888, LOC121832782, LOC121832783, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC129388416, LOC129388417, LOC129390246, LOC129390247, LOC129390248, LOC129390249, LOC129390250, LOC129390251, LOC130005037, LOC130005038, LOC130005039, LOC130005040, LOC130005041, LOC130005042, LOC130005043, LOC130005044, LOC130005045, LOC130005046, LOC130005047, LOC130005048, LOC130005049, LOC130005050, LOC130005051, LOC130005052, LOC130005053, LOC130005054, LOC130005055, LOC130005056, LOC130005057, LOC130005058, LOC130005059, LOC130005060, LOC130005061, LOC130005062, LOC130005063, LOC130005064, LOC130005065, LOC130005066, LOC130005067, LOC130005068, LOC130005069, LOC130005070, LOC130005071, LOC130005072, LOC130005073, LOC130005074, LOC130005075, LOC130005076, LOC130005077, LOC130005078, LOC130005079, LOC130005080, LOC130005081, LOC130005082, LOC130005083, LOC130005084, LOC130005085, LOC130005086, LOC130005087, LOC130005088, LOC130005089, LOC130005090, LOC130005091, LOC130005092, LOC130005093, LOC130005094, LOC130005095, LOC130005096, LOC130005097, LOC130005098, LOC130005099, LOC130005100, LOC130005101, LOC130005102, LOC130005103, LOC130005104, LOC130005105, LOC130005106, LOC130005107, LOC130005108, LOC130005109, LOC130005110, LOC130005111, LOC130005112, LOC130005113, LOC130005114, LOC130005115, LOC130005116, LOC130005117, LOC130005118, LOC130005119, LOC130005120, LOC130005121, LOC130005122, LOC130005123, LOC130005124, LOC130005125, LOC130005126, LOC130005127, LOC130005128, LOC130005129, LOC130005130, LOC130005131, LOC130005132, LOC130005133, LOC130005134, LOC130005135, LOC130005136, LOC130005137, LOC130005138, LOC130005139, LOC130005140, LOC130005141, LOC130005142, LOC130005143, LOC130005144, LOC130005145, LOC130005146, LOC130005147, LOC130005148, LOC130005149, LOC130005150, LOC130005151, LOC130005152, LOC130005153, LOC130005154, LOC130005155, LOC130005156, LOC130005157, LOC130005158, LOC130005159, LOC130005160, LOC130005161, LOC130005162, LOC130005163, LOC130005164, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, LOC130005174, LOC130005175, LOC130005176, LOC130005177, LOC130005178, LOC132089927, LOC132089930, LOC132089931, LOC132090831, LOC132090832, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR4687, MIR483, MIR6743, MIR6744, MIR675, MIR7847, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, NUP98, OR52B4, OSBPL5, PANO1, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RHOG, RIC8A, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRIM21, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr11:218365-3398307
GRCh38:
Chr11:218365-3377077
ANO9, AP2A2, ASCL2, B4GALNT4, BRSK2, C11orf21, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, IFITM10, H19, H19-ICR, HOTS, HRAS, IFITM1, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, KCNQ1DN, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02688, LINC02708, LMNTD2, LMNTD2-AS1, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC113939920, LOC116216126, LOC116216127, LOC121392887, LOC121392888, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC129390246, LOC129390247, LOC129390248, LOC129390249, LOC129390250, LOC130005038, LOC130005039, LOC130005040, LOC130005041, LOC130005042, LOC130005043, LOC130005044, LOC130005045, LOC130005046, LOC130005047, LOC130005048, LOC130005049, LOC130005050, LOC130005051, LOC130005052, LOC130005053, LOC130005054, LOC130005055, LOC130005056, LOC130005057, LOC130005058, LOC130005059, LOC130005060, LOC130005061, LOC130005062, LOC130005063, LOC130005064, LOC130005065, LOC130005066, LOC130005067, LOC130005068, LOC130005069, LOC130005070, LOC130005071, LOC130005072, LOC130005073, LOC130005074, LOC130005075, LOC130005076, LOC130005077, LOC130005078, LOC130005079, LOC130005080, LOC130005081, LOC130005082, LOC130005083, LOC130005084, LOC130005085, LOC130005086, LOC130005087, LOC130005088, LOC130005089, LOC130005090, LOC130005091, LOC130005092, LOC130005093, LOC130005094, LOC130005095, LOC130005096, LOC130005097, LOC130005098, LOC130005099, LOC130005100, LOC130005101, LOC130005102, LOC130005103, LOC130005104, LOC130005105, LOC130005106, LOC130005107, LOC130005108, LOC130005109, LOC130005110, LOC130005111, LOC130005112, LOC130005113, LOC130005114, LOC130005115, LOC130005116, LOC130005117, LOC130005118, LOC130005119, LOC130005120, LOC130005121, LOC130005122, LOC130005123, LOC130005124, LOC130005125, LOC130005126, LOC130005127, LOC130005128, LOC130005129, LOC130005130, LOC130005131, LOC130005132, LOC130005133, LOC130005134, LOC130005135, LOC130005136, LOC130005137, LOC130005138, LOC130005139, LOC130005140, LOC130005141, LOC130005142, LOC130005143, LOC130005144, LOC130005145, LOC130005146, LOC130005147, LOC130005148, LOC130005149, LOC132089927, LOC132089930, LOC132089931, LOC132090831, LOC132090832, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR483, MIR6744, MIR675, MIR7847, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, OSBPL5, PANO1, PGGHG, PRADX, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRR33, PSMD13, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr11:446754-18926289
GRCh38:
Chr11:446754-18904742
A-GAMMA3'E, ABCC8, ADM, ADM-DT, AKIP1, AMPD3, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, ASCL3, BGLT3, BMAL1, BRSK2, BTBD10, C11orf16, C11orf21, C11orf40, C11orf42, C11orf58, CALCA, CALCB, CAND1.11, CARS1, CARS1-AS1, CASC23, CAVIN3, CCKBR, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, COPB1, CRACR2B, CSNK2A3, CTR9, CTSD, CYB5R2, CYP2R1, DCHS1, DEAF1, DENND2B, DENND2B-AS1, DENND5A, DKK3, DNHD1, DRD4, DUSP8, EIF3F, EIF4G2, EPS8L2, FAM99A, FAM99B, FAR1, FHIP1B, GALNT18, GATD1, GATD1-DT, GTF2H1, H19, H19-ICR, HBB, HBB-3'HS1, HBB-HS-107, HBB-HS-111, HBB-LCR, HBD, HBE1, HBG1, HBG2, HOTS, HPS5, HPX, HRAS, HS-E1, IFITM10, IGF2, IGF2-AS, IGSF22, IGSF22-AS1, ILK, INS, INS-IGF2, INSC, IPO7, IRAG1, IRAG1-AS1, IRF7, KCNC1, KCNJ11, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LDHA, LDHAL6A, LDHC, LINC00958, LINC01150, LINC01219, LINC02545, LINC02547, LINC02548, LINC02682, LINC02683, LINC02688, LINC02708, LINC02709, LINC02729, LINC02749, LINC02751, LINC02752, LINC02989, LMNTD2, LMNTD2-AS1, LMO1, LOC101927708, LOC101928008, LOC101928053, LOC105274310, LOC105369149, LOC105376526, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC106736470, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC107988023, LOC108254681, LOC108281125, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110120848, LOC110120922, LOC110120926, LOC110120947, LOC110121340, LOC110121343, LOC110121378, LOC110121434, LOC110121453, LOC110121471, LOC110121483, LOC111413037, LOC111718490, LOC111982890, LOC112042781, LOC112042782, LOC112067712, LOC112067713, LOC112067714, LOC112067715, LOC112067716, LOC112067719, LOC112067720, LOC112081391, LOC112081400, LOC112081404, LOC112081405, LOC112136080, LOC112136081, LOC112136092, LOC112136094, LOC113939920, LOC113939924, LOC113939927, LOC113939928, LOC114827852, LOC116216127, LOC116216128, LOC116216129, LOC121392887, LOC121392888, LOC121392889, LOC121392890, LOC121392891, LOC121392892, LOC121832782, LOC121832783, LOC121832784, LOC121832785, LOC121832786, LOC121832787, LOC121832788, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC124418422, LOC124418423, LOC124418426, LOC124421482, LOC124421483, LOC124421484, LOC124421485, LOC124421486, LOC124421487, LOC124421488, LOC124421489, LOC124421490, LOC124421491, LOC124421492, LOC124421493, LOC124421494, LOC124421495, LOC124421496, LOC124421497, LOC124421498, LOC124421499, LOC124421500, LOC124421501, LOC124421502, LOC124421503, LOC124902806, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC126861117, LOC126861118, LOC126861119, LOC126861120, LOC126861121, LOC126861122, LOC126861123, LOC126861124, LOC126861125, LOC126861126, LOC126861127, LOC126861128, LOC126861129, LOC126861130, LOC126861131, LOC126861132, LOC126861133, LOC126861134, LOC126861135, LOC126861136, LOC126861137, LOC126861138, LOC126861139, LOC126861140, LOC126861141, LOC126861142, LOC126861143, LOC126861144, LOC126861145, LOC126861146, LOC126861147, LOC126861148, LOC126861149, LOC126861150, LOC126861151, LOC126861152, LOC126861153, LOC126861154, LOC128772342, LOC128772343, LOC128772344, LOC128772345, LOC128772346, LOC129388416, LOC129388417, LOC129390246, LOC129390247, LOC129390248, LOC129390249, LOC129390250, LOC129390251, LOC129390252, LOC129390253, LOC129390254, LOC129390255, LOC129390256, LOC129390257, LOC129390258, LOC129390259, LOC129390260, LOC129390261, LOC129390262, LOC129390263, LOC129390264, LOC129390265, LOC129390266, LOC129390267, LOC129390268, LOC129390269, LOC130005070, LOC130005071, LOC130005072, LOC130005073, LOC130005074, LOC130005075, LOC130005076, LOC130005077, LOC130005078, LOC130005079, LOC130005080, LOC130005081, LOC130005082, LOC130005083, LOC130005084, LOC130005085, LOC130005086, LOC130005087, LOC130005088, LOC130005089, LOC130005090, LOC130005091, LOC130005092, LOC130005093, LOC130005094, LOC130005095, LOC130005096, LOC130005097, LOC130005098, LOC130005099, LOC130005100, LOC130005101, LOC130005102, LOC130005103, LOC130005104, LOC130005105, LOC130005106, LOC130005107, LOC130005108, LOC130005109, LOC130005110, LOC130005111, LOC130005112, LOC130005113, LOC130005114, LOC130005115, LOC130005116, LOC130005117, LOC130005118, LOC130005119, LOC130005120, LOC130005121, LOC130005122, LOC130005123, LOC130005124, LOC130005125, LOC130005126, LOC130005127, LOC130005128, LOC130005129, LOC130005130, LOC130005131, LOC130005132, LOC130005133, LOC130005134, LOC130005135, LOC130005136, LOC130005137, LOC130005138, LOC130005139, LOC130005140, LOC130005141, LOC130005142, LOC130005143, LOC130005144, LOC130005145, LOC130005146, LOC130005147, LOC130005148, LOC130005149, LOC130005150, LOC130005151, LOC130005152, LOC130005153, LOC130005154, LOC130005155, LOC130005156, LOC130005157, LOC130005158, LOC130005159, LOC130005160, LOC130005161, LOC130005162, LOC130005163, LOC130005164, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, LOC130005174, LOC130005175, LOC130005176, LOC130005177, LOC130005178, LOC130005179, LOC130005180, LOC130005181, LOC130005182, LOC130005183, LOC130005184, LOC130005185, LOC130005186, LOC130005187, LOC130005188, LOC130005189, LOC130005190, LOC130005191, LOC130005192, LOC130005193, LOC130005194, LOC130005195, LOC130005196, LOC130005197, LOC130005198, LOC130005199, LOC130005200, LOC130005201, LOC130005202, LOC130005203, LOC130005204, LOC130005205, LOC130005206, LOC130005207, LOC130005208, LOC130005209, LOC130005210, LOC130005211, LOC130005212, LOC130005213, LOC130005214, LOC130005215, LOC130005216, LOC130005217, LOC130005218, LOC130005219, LOC130005220, LOC130005221, LOC130005222, LOC130005223, LOC130005224, LOC130005225, LOC130005226, LOC130005227, LOC130005228, LOC130005229, LOC130005230, LOC130005231, LOC130005232, LOC130005233, LOC130005234, LOC130005235, LOC130005236, LOC130005237, LOC130005238, LOC130005239, LOC130005240, LOC130005241, LOC130005242, LOC130005243, LOC130005244, LOC130005245, LOC130005246, LOC130005247, LOC130005248, LOC130005249, LOC130005250, LOC130005251, LOC130005252, LOC130005253, LOC130005254, LOC130005255, LOC130005256, LOC130005257, LOC130005258, LOC130005259, LOC130005260, LOC130005261, LOC130005262, LOC130005263, LOC130005264, LOC130005265, LOC130005266, LOC130005267, LOC130005268, LOC130005269, LOC130005270, LOC130005271, LOC130005272, LOC130005273, LOC130005274, LOC130005275, LOC130005276, LOC130005277, LOC130005278, LOC130005279, LOC130005280, LOC130005281, LOC130005282, LOC130005283, LOC130005284, LOC130005285, LOC130005286, LOC130005287, LOC130005288, LOC130005289, LOC130005290, LOC130005291, LOC130005292, LOC130005293, LOC130005294, LOC130005295, LOC130005296, LOC130005297, LOC130005298, LOC130005299, LOC130005300, LOC130005301, LOC130005302, LOC130005303, LOC130005304, LOC130005305, LOC130005306, LOC130005307, LOC130005308, LOC130005309, LOC130005310, LOC130005311, LOC130005312, LOC130005313, LOC130005314, LOC130005315, LOC130005316, LOC130005317, LOC130005318, LOC130005319, LOC130005320, LOC130005321, LOC130005322, LOC130005323, LOC130005324, LOC130005325, LOC130005326, LOC130005327, LOC130005328, LOC130005329, LOC130005330, LOC130005331, LOC130005332, LOC130005333, LOC130005334, LOC130005335, LOC130005336, LOC130005337, LOC130005338, LOC130005339, LOC130005340, LOC130005341, LOC130005342, LOC130005343, LOC130005344, LOC130005345, LOC130005346, LOC130005347, LOC130005348, LOC130005349, LOC130005350, LOC130005351, LOC130005352, LOC130005353, LOC130005354, LOC130005355, LOC130005356, LOC130005357, LOC130005358, LOC130005359, LOC130005360, LOC130005361, LOC130005362, LOC130005363, LOC130005364, LOC130005365, LOC130005366, LOC130005367, LOC130005368, LOC130005369, LOC130005370, LOC130005371, LOC130005372, LOC130005373, LOC130005374, LOC130005375, LOC130005376, LOC130005377, LOC130005378, LOC130005379, LOC130005380, LOC130005381, LOC130005382, LOC130005383, LOC130005384, LOC130005385, LOC130005386, LOC130005387, LOC130005388, LOC130005389, LOC130005390, LOC130005391, LOC130005392, LOC130005393, LOC130005394, LOC130005395, LOC130005396, LOC130005397, LOC130005398, LOC130005399, LOC130005400, LOC130005401, LOC130005402, LOC130005403, LOC130005404, LOC130005405, LOC130005406, LOC130005407, LOC130005408, LOC130005409, LOC130005410, LOC130005411, LOC130005412, LOC130005413, LOC130005414, LOC130005415, LOC130005416, LOC130005417, LOC130005418, LOC130005419, LOC132089897, LOC132089898, LOC132089899, LOC132089927, LOC132089930, LOC132089931, LOC132090831, LOC132090832, LOC132090833, LOC143666, LOC283299, LOC644656, LRRC56, LSP1, LYVE1, MICAL2, MICALCL, MIR210, MIR210HG, MIR302E, MIR3159, MIR4298, MIR4299, MIR4485, MIR4686, MIR4687, MIR483, MIR5691, MIR6073, MIR6124, MIR6744, MIR675, MIR7847, MIR8070, MISFA, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRGPRX3, MRGPRX4, MRPL17, MRPL23, MRPL23-AS1, MTRNR2L8, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, MYOD1, NAP1L4, NCR3LG1, NLRP10, NLRP14, NRIP3, NRIP3-DT, NUCB2, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51C1P, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51J1, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E1, OR52E2, OR52E4, OR52E5, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52P1, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B2P, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OTOG, OVCH2, PANO1, PARVA, PDE3B, PGAP2, PHLDA2, PHRF1, PIDD1, PIK3C2A, PLEKHA7, PNPLA2, POLR2L, PPFIBP2, PRADX, PRR33, PSMA1, PTDSS2, PTH, PTPN5, RASSF10, RASSF10-DT, RASSF7, RBMXL2, RHOG, RIC3, RIC3-DT, RNF141, RNH1, RPL27A, RPLP2, RPS13, RRAS2, RRM1, RRP8, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SBF2, SBF2-AS1, SCT, SCUBE2, SERGEF, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA23, SNORA3A, SNORA3B, SNORA52, SNORA54, SNORD131, SNORD147, SNORD14A, SNORD14B, SNORD97, SOX6, SPON1, SPTY2D1, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, STK33, SWAP70, SYT8, SYT9, SYT9-AS1, TAF10, TALDO1, TEAD1, TH, TIMM10B, TMEM41B, TMEM80, TMEM86A, TMEM9B, TMEM9B-AS1, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TPH1, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRL-CAA5-1, TRPM5, TSG101, TSPAN32, TSPAN4, TSSC4, TUB, TUB-AS1, UBQLN3, UBQLNL, UEVLD, USH1C, USP47, WEE1, ZBED5, ZBED5-AS1, ZNF143, ZNF195, ZNF214, ZNF215
See casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
8.
GRCh38:
Chr11:499700-5279697
BGLT3, A-GAMMA3'E, AP2A2, ART1, ART5, ASCL2, BRSK2, C11orf21, C11orf40, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, H19, H19-ICR, HBB, HBB-3'HS1, HBB-LCR, HBD, HBE1, HBG1, HBG2, HOTS, HRAS, HS-E1, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02688, LINC02708, LINC02749, LMNTD2, LMNTD2-AS1, LOC101927708, LOC105274310, LOC105376526, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110121378, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC113939920, LOC116216127, LOC116216128, LOC121392887, LOC121392888, LOC121832782, LOC121832783, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC126861117, LOC126861118, LOC129388416, LOC129388417, LOC129390247, LOC129390248, LOC129390249, LOC129390250, LOC129390251, LOC130005075, LOC130005076, LOC130005077, LOC130005078, LOC130005079, LOC130005080, LOC130005081, LOC130005082, LOC130005083, LOC130005084, LOC130005085, LOC130005086, LOC130005087, LOC130005088, LOC130005089, LOC130005090, LOC130005091, LOC130005092, LOC130005093, LOC130005094, LOC130005095, LOC130005096, LOC130005097, LOC130005098, LOC130005099, LOC130005100, LOC130005101, LOC130005102, LOC130005103, LOC130005104, LOC130005105, LOC130005106, LOC130005107, LOC130005108, LOC130005109, LOC130005110, LOC130005111, LOC130005112, LOC130005113, LOC130005114, LOC130005115, LOC130005116, LOC130005117, LOC130005118, LOC130005119, LOC130005120, LOC130005121, LOC130005122, LOC130005123, LOC130005124, LOC130005125, LOC130005126, LOC130005127, LOC130005128, LOC130005129, LOC130005130, LOC130005131, LOC130005132, LOC130005133, LOC130005134, LOC130005135, LOC130005136, LOC130005137, LOC130005138, LOC130005139, LOC130005140, LOC130005141, LOC130005142, LOC130005143, LOC130005144, LOC130005145, LOC130005146, LOC130005147, LOC130005148, LOC130005149, LOC130005150, LOC130005151, LOC130005152, LOC130005153, LOC130005154, LOC130005155, LOC130005156, LOC130005157, LOC130005158, LOC130005159, LOC130005160, LOC130005161, LOC130005162, LOC130005163, LOC130005164, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, LOC130005174, LOC130005175, LOC130005176, LOC130005177, LOC130005178, LOC130005179, LOC130005180, LOC130005181, LOC132089927, LOC132089930, LOC132089931, LOC132090831, LOC132090832, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR4687, MIR483, MIR6744, MIR675, MIR7847, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NUP98, OR51A2, OR51A4, OR51A7, OR51C1P, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51L1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B4, OR52E1, OR52E2, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52M1, OR52R1, OSBPL5, PANO1, PGAP2, PHLDA2, PHRF1, PIDD1, PNPLA2, POLR2L, PRADX, PRR33, RASSF7, RHOG, RNH1, RPLP2, RRM1, SCT, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRIM21, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195
Thalassemia, gamma-delta-betaPathogenic
(Oct 1, 1989)
no assertion criteria provided
9.
GRCh37:
Chr11:747445-747446
GRCh38:
Chr11:747445-747446
TALDO1Deficiency of transaldolaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr11:747445
GRCh38:
Chr11:747445
TALDO1Deficiency of transaldolaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr11:747446-747457
GRCh38:
Chr11:747446-747457
TALDO1Deficiency of transaldolaseLikely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr11:747452
GRCh38:
Chr11:747452
TALDO1Deficiency of transaldolaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr11:747476
GRCh38:
Chr11:747476
TALDO1Deficiency of transaldolaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr11:747482
GRCh38:
Chr11:747482
TALDO1M1VSee casesUncertain significance
(Nov 30, 2020)
criteria provided, single submitter
15.
GRCh37:
Chr11:747497
GRCh38:
Chr11:747497
TALDO1V6LInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:747503
GRCh38:
Chr11:747503
TALDO1R8Snot providedUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:747511
GRCh38:
Chr11:747511
TALDO1not providedLikely benign
(Aug 7, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:747517
GRCh38:
Chr11:747517
TALDO1not provided, Deficiency of transaldolaseConflicting interpretations of pathogenicity
(Oct 30, 2022)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr11:747529
GRCh38:
Chr11:747529
TALDO1Deficiency of transaldolaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr11:747536
GRCh38:
Chr11:747536
TALDO1K19Qnot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Oct 1, 2022)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr11:747542
GRCh38:
Chr11:747542
TALDO1F21Lnot providedUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr11:747544
GRCh38:
Chr11:747544
TALDO1F21Lnot providedUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:747547
GRCh38:
Chr11:747547
TALDO1not providedLikely benign
(May 4, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr11:747549
GRCh38:
Chr11:747549
TALDO1T23SInborn genetic diseases, not provided, Deficiency of transaldolase
Uncertain significance
(Aug 28, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:747551
GRCh38:
Chr11:747551
TALDO1V24Lnot providedUncertain significance
(May 5, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:747559
GRCh38:
Chr11:747559
TALDO1Deficiency of transaldolaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr11:747577
GRCh38:
Chr11:747577
TALDO1not providedUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:747579
GRCh38:
Chr11:747579
TALDO1not providedLikely pathogenic
(Oct 20, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:747595
GRCh38:
Chr11:747595
TALDO1not providedLikely benign
(Oct 24, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:755862
GRCh38:
Chr11:755862
TALDO1not providedLikely benign
(Jul 27, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr11:755879
GRCh38:
Chr11:755879
TALDO1A33Vnot providedUncertain significance
(Feb 19, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:755919
GRCh38:
Chr11:755919
TALDO1not providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:755934
GRCh38:
Chr11:755934
TALDO1not providedLikely benign
(Oct 12, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:755949
GRCh38:
Chr11:755949
TALDO1not providedBenign
(Aug 19, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:755962
GRCh38:
Chr11:755962
TALDO1L61VDeficiency of transaldolase, not providedUncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr11:755964
GRCh38:
Chr11:755964
TALDO1not providedLikely benign
(Dec 7, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr11:755972
GRCh38:
Chr11:755972
TALDO1E64Anot providedUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:755978
GRCh38:
Chr11:755978
TALDO1I66TInborn genetic diseases, not provided, Deficiency of transaldolase
Conflicting interpretations of pathogenicity
(Oct 20, 2022)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr11:755989
GRCh38:
Chr11:755989
TALDO1R70WInborn genetic diseases, not providedUncertain significance
(Dec 13, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr11:755990
GRCh38:
Chr11:755990
TALDO1R70QInborn genetic diseasesUncertain significance
(Aug 17, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr11:756009
GRCh38:
Chr11:756009
TALDO1not providedLikely benign
(May 3, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:756009
GRCh38:
Chr11:756009
TALDO1not providedLikely benign
(Jun 27, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:756019
GRCh38:
Chr11:756019
TALDO1not providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:758806
GRCh38:
Chr11:758806
TALDO1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr11:758848-2019255
GRCh38:
Chr11:758848-1998025
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
46.
GRCh37:
Chr11:758953
GRCh38:
Chr11:758953
TALDO1not providedLikely benign
(Oct 20, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:758973
GRCh38:
Chr11:758973
TALDO1N82Inot providedUncertain significance
(Dec 20, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr11:759021
GRCh38:
Chr11:759021
TALDO1K98MDeficiency of transaldolaseUncertain significance
(Feb 27, 2018)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr11:759023
GRCh38:
Chr11:759023
TALDO1I99VInborn genetic diseasesUncertain significance
(Sep 22, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr11:759028
GRCh38:
Chr11:759028
TALDO1not providedLikely benign
(Apr 25, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:759042
GRCh38:
Chr11:759042
TALDO1T105IInborn genetic diseases, not providedUncertain significance
(Dec 6, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr11:759055
GRCh38:
Chr11:759055
TALDO1not providedLikely benign
(May 25, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr11:759056
GRCh38:
Chr11:759056
TALDO1R110Gnot provided, Cataract, Microcephaly,
Severe global developmental delay
Uncertain significance
(Nov 7, 2021)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr11:759072
GRCh38:
Chr11:759072
TALDO1not providedLikely benign
(Feb 23, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr11:760112-760119
GRCh38:
Chr11:760112-760119
TALDO1not providedUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:760112-760122
GRCh38:
Chr11:760112-760122
TALDO1Deficiency of transaldolaseUncertain significance
(Apr 20, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr11:760122
GRCh38:
Chr11:760122
TALDO1not providedUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr11:760139
GRCh38:
Chr11:760139
TALDO1D116Vnot providedBenign
(Sep 10, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:760148
GRCh38:
Chr11:760148
TALDO1V119ADeficiency of transaldolaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr11:760162
GRCh38:
Chr11:760162
TALDO1R124Wnot providedUncertain significance
(Jan 12, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr11:760167
GRCh38:
Chr11:760167
TALDO1not providedLikely benign
(Jul 11, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:760171
GRCh38:
Chr11:760171
TALDO1E127Knot providedUncertain significance
(May 8, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:760177
GRCh38:
Chr11:760177
TALDO1Y129Hnot providedUncertain significance
(Feb 19, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:760188
GRCh38:
Chr11:760188
TALDO1not providedLikely benign
(Aug 7, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:760192
GRCh38:
Chr11:760192
TALDO1I134Vnot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr11:760193
GRCh38:
Chr11:760193
TALDO1I134Snot providedUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:760194
GRCh38:
Chr11:760194
TALDO1Deficiency of transaldolaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr11:760201
GRCh38:
Chr11:760201
TALDO1D137NInborn genetic diseases, not providedUncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr11:760201
GRCh38:
Chr11:760201
TALDO1D137YDeficiency of transaldolasenot providedno assertion provided
70.
GRCh37:
Chr11:760205
GRCh38:
Chr11:760205
TALDO1R138Qnot providedUncertain significance
(Dec 29, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr11:760219
GRCh38:
Chr11:760219
TALDO1not providedLikely benign
(Oct 19, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr11:760249
GRCh38:
Chr11:760249
TALDO1G153Rnot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr11:760250
GRCh38:
Chr11:760250
TALDO1G153EInborn genetic diseasesUncertain significance
(Jul 19, 2023)
criteria provided, single submitter
74.
GRCh37:
Chr11:760264
GRCh38:
Chr11:760264
TALDO1not providedLikely benign
(Jul 29, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:760267
GRCh38:
Chr11:760267
TALDO1not provided, Deficiency of transaldolaseConflicting interpretations of pathogenicity
(May 13, 2022)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr11:760271
GRCh38:
Chr11:760271
TALDO1not providedLikely benign
(Nov 25, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr11:763300-763314
GRCh38:
Chr11:763300-763314
LOC126861110, TALDO1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr11:763315-763330
GRCh38:
Chr11:763315-763330
LOC126861110, TALDO1not providedBenign
(Nov 1, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr11:763328
GRCh38:
Chr11:763328
LOC126861110, TALDO1not providedLikely benign
(Jun 27, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:763330
GRCh38:
Chr11:763330
LOC126861110, TALDO1not providedLikely benign
(Jun 27, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:763335
GRCh38:
Chr11:763335
LOC126861110, TALDO1not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr11:763340
GRCh38:
Chr11:763340
LOC126861110, TALDO1not provided, Deficiency of transaldolaseConflicting interpretations of pathogenicity
(Jul 12, 2022)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr11:763347
GRCh38:
Chr11:763347
LOC126861110, TALDO1E155DInborn genetic diseasesUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr11:763351
GRCh38:
Chr11:763351
LOC126861110, TALDO1E157Knot providedUncertain significance
(Mar 24, 2023)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr11:763357
GRCh38:
Chr11:763357
LOC126861110, TALDO1Q159Enot provided, Deficiency of transaldolaseUncertain significance
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr11:763358
GRCh38:
Chr11:763358
LOC126861110, TALDO1Q159RInborn genetic diseases, not provided, Deficiency of transaldolase
Conflicting interpretations of pathogenicity
(Nov 17, 2022)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr11:763359
GRCh38:
Chr11:763359
LOC126861110, TALDO1Q159Hnot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr11:763362
GRCh38:
Chr11:763362
LOC126861110, TALDO1Deficiency of transaldolase, not providedUncertain significance
(May 30, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr11:763363
GRCh38:
Chr11:763363
LOC126861110, TALDO1G161Snot providedUncertain significance
(Oct 31, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr11:763368
GRCh38:
Chr11:763368
LOC126861110, TALDO1I162Mnot providedUncertain significance
(Jun 19, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:763370
GRCh38:
Chr11:763370
LOC126861110, TALDO1H163RDeficiency of transaldolaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr11:763371
GRCh38:
Chr11:763371
LOC126861110, TALDO1not providedLikely benign
(Sep 24, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:763376
GRCh38:
Chr11:763376
LOC126861110, TALDO1N165Snot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr11:763383
GRCh38:
Chr11:763383
LOC126861110, TALDO1not providedLikely benign
(Aug 30, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:763388
GRCh38:
Chr11:763388
LOC126861110, TALDO1L169Pnot providedUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:763392-763394
GRCh38:
Chr11:763392-763394
LOC126861110, TALDO1S171delDeficiency of transaldolasePathogenic
(May 1, 2001)
no assertion criteria provided
97.
GRCh37:
Chr11:763394
GRCh38:
Chr11:763394
LOC126861110, TALDO1S171FDeficiency of transaldolaseLikely pathogenicno assertion criteria provided
98.
GRCh37:
Chr11:763397-763398
GRCh38:
Chr11:763397-763398
LOC126861110, TALDO1A173fsDeficiency of transaldolasePathogenic
(Dec 30, 2014)
criteria provided, single submitter
99.
GRCh37:
Chr11:763400
GRCh38:
Chr11:763400
LOC126861110, TALDO1A173VInborn genetic diseasesUncertain significance
(Jul 9, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr11:763419
GRCh38:
Chr11:763419
LOC126861110, TALDO1not providedLikely benign
(May 5, 2022)
criteria provided, single submitter
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