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Items: 73

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:
Chr11:196855-5343104
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
GRCh37:
Chr11:1126807-3235153
GRCh38:
Chr11:1132899-3213923
See casesPathogenic
(Aug 19, 2010)
no assertion criteria provided
9.
GRCh37:
Chr11:1558609-3381999
GRCh38:
Chr11:1537379-3360769
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
10.
GRCh37:
Chr11:1996741-3645369
GRCh38:
Chr11:1975511-3624139
See casesUncertain significance
(Feb 16, 2018)
no assertion criteria provided
11.
GRCh37:
Chr11:2923826
GRCh38:
Chr11:2902596
SLC22A18, SLC22A18ASM1Vnot specified, not providedBenign
(Jan 2, 2020)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:2924606
GRCh38:
Chr11:2903376
SLC22A18AS, SLC22A18G96S, G11SInborn genetic diseasesUncertain significance
(May 11, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:2924626
GRCh38:
Chr11:2903396
SLC22A18, SLC22A18ASM17I, M102IInborn genetic diseasesUncertain significance
(Mar 3, 2023)
criteria provided, single submitter
14.
GRCh37:
Chr11:2924640
GRCh38:
Chr11:2903410
SLC22A18, SLC22A18ASR22Q, R107Qnot providedBenign
(Nov 18, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr11:2929473
GRCh38:
Chr11:2908243
SLC22A18R137Q, R52QInborn genetic diseasesUncertain significance
(May 31, 2023)
criteria provided, single submitter
16.
GRCh37:
Chr11:2929479
GRCh38:
Chr11:2908249
SLC22A18L139P, L54PInborn genetic diseasesUncertain significance
(Mar 1, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr11:2930440
GRCh38:
Chr11:2909210
SLC22A18R86H, R171HRhabdomyosarcoma, somaticPathogenic
(Mar 31, 1998)
no assertion criteria provided
18.
GRCh37:
Chr11:2930449
GRCh38:
Chr11:2909219
SLC22A18R174P, R89PInborn genetic diseasesUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:2930454
GRCh38:
Chr11:2909224
SLC22A18A176S, A91SInborn genetic diseasesUncertain significance
(Oct 6, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr11:2930478
GRCh38:
Chr11:2909248
SLC22A18A184T, A99TInborn genetic diseasesUncertain significance
(Aug 8, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr11:2930487
GRCh38:
Chr11:2909257
SLC22A18L102V, L187VInborn genetic diseasesUncertain significance
(Feb 16, 2023)
criteria provided, single submitter
22.
GRCh37:
Chr11:2930574
GRCh38:
Chr11:2909344
SLC22A18H131Y, H216YInborn genetic diseasesUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:2930595
GRCh38:
Chr11:2909365
SLC22A18not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
24.
GRCh37:
Chr11:2930818
GRCh38:
Chr11:2909588
SLC22A18M223I, M138IInborn genetic diseasesUncertain significance
(Apr 27, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:2930829
GRCh38:
Chr11:2909599
SLC22A18D142G, D227GInborn genetic diseasesUncertain significance
(Mar 16, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:2930857
GRCh38:
Chr11:2909627
SLC22A18not providedLikely benign
(Jan 1, 2023)
criteria provided, single submitter
27.
GRCh37:
Chr11:2930868
GRCh38:
Chr11:2909638
SLC22A18R155Q, R240QInborn genetic diseasesUncertain significance
(Nov 19, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:2930885
GRCh38:
Chr11:2909655
SLC22A18G246R, G161RInborn genetic diseasesUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr11:2937875
GRCh38:
Chr11:2916645
SLC22A18A89V, A187V, A272VInborn genetic diseasesUncertain significance
(Dec 20, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr11:2937919
GRCh38:
Chr11:2916689
SLC22A18I287V, I104V, I202VInborn genetic diseasesUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr11:2937952
GRCh38:
Chr11:2916722
SLC22A18A298T, A115T, A213TInborn genetic diseasesLikely benign
(Dec 17, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr11:2937961
GRCh38:
Chr11:2916731
SLC22A18P118A, P301A, P216AInborn genetic diseasesLikely benign
(Jun 2, 2023)
criteria provided, single submitter
33.
GRCh37:
Chr11:2939236
GRCh38:
Chr11:2918006
SLC22A18V225G, V127G, V310GInborn genetic diseasesUncertain significance
(Apr 24, 2023)
criteria provided, single submitter
34.
GRCh37:
Chr11:2939256
GRCh38:
Chr11:2918026
SLC22A18A134T, A232T, A317TInborn genetic diseasesLikely benign
(Aug 16, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr11:2939260
GRCh38:
Chr11:2918030
SLC22A18S233F, S135F, S318FLung carcinomaPathogenic
(Sep 15, 1998)
no assertion criteria provided
36.
GRCh37:
Chr11:2939266
GRCh38:
Chr11:2918036
SLC22A18L137P, L235P, L320PInborn genetic diseasesUncertain significance
(Feb 1, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr11:2939280
GRCh38:
Chr11:2918050
SLC22A18V325F, V240F, V142FInborn genetic diseasesUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:2940573
GRCh38:
Chr11:2919343
SLC22A18D169V, D267V, D352VInborn genetic diseasesUncertain significance
(May 3, 2023)
criteria provided, single submitter
39.
GRCh37:
Chr11:2940585
GRCh38:
Chr11:2919355
SLC22A18L173P, L271P, L356PInborn genetic diseasesUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:2942286
GRCh38:
Chr11:2921056
SLC22A18Lung adenocarcinomaUncertain significance
(Jun 6, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:2943399
GRCh38:
Chr11:2922169
SLC22A18S213T, S311T, S396TInborn genetic diseasesUncertain significance
(Mar 14, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr11:2943419
GRCh38:
Chr11:2922189
SLC22A18V318L, V220L, V403LInborn genetic diseasesUncertain significance
(Sep 13, 2023)
criteria provided, single submitter
43.
GRCh37:
Chr11:2943681
GRCh38:
Chr11:2922451
SLC22A18V230I, V413I, V328Inot providedLikely benign
(Apr 16, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr11:2943771
GRCh38:
Chr11:2922541
SLC22A18S260P, S358P, S443Pnot providedBenign
(Apr 16, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr11:2946299
GRCh38:
Chr11:2925069
SLC22A18V285I, V468I, V383IInborn genetic diseasesUncertain significance
(Mar 29, 2023)
criteria provided, single submitter
46.
GRCh37:
Chr11:2946335
GRCh38:
Chr11:2925105
SLC22A18V297I, V395I, V480IInborn genetic diseasesLikely benign
(Mar 7, 2023)
criteria provided, single submitter
47.
GRCh37:
Chr11:2946346
GRCh38:
Chr11:2925116
SLC22A18not providedBenign
(Apr 16, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr11:2946347
GRCh38:
Chr11:2925117
SLC22A18V484L, V301L, V399Lnot providedBenign
(Apr 16, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr11:2946402
GRCh38:
Chr11:2925172
SLC22A18P502L, P417L, P319LInborn genetic diseasesUncertain significance
(Jan 23, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr11:2946406
GRCh38:
Chr11:2925176
SLC22A18not providedBenign
(Apr 6, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr11:2946413
GRCh38:
Chr11:2925183
SLC22A18D323N, D421N, D506NInborn genetic diseasesUncertain significance
(Jun 21, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr11:230615-8821443
C11orf42, MRGPRG, OR51B4, OR52B4, OR56A1, RNH1, TRIM22, TSPAN32, TRIM34, RPL27A, RRP8, SCT, SIGIRR, SIRT3, STK33, RPLP2, RRM1, TRIM3, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52D1, OR56A3, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OR51B5, OR51D1, MRPL23, MUC2, MUC5AC, MUC5B, NUP98, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51B6, OR56A4, CARS1, CAVIN3, CCKBR, CD151, CDHR5, CTSD, CYB5R2, CD81, OR52B6, MRPL17, OLFML1, OR10A2, ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, CRACR2B, DCHS1, DEAF1, DENND2B, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FHIP1B, GATD1, HPX, H19, HBB, HBD, HBE1, HBG1, HBG2, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, ILK, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMNTD2-AS1, LMO1, LRRC56, LSP1, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OSBPL5, OVCH2, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA3B, STIM1, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM80, TNNI2, TNNT3, TOLLIP, TPP1, TRIM21, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, ZNF195, ZNF214, ZNF215
Russell-Silver syndromePathogenic
(May 25, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr11:721044-3988932
not providedUncertain significance
(Nov 18, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr11:230616-8250724
OR10A6, RRM1, SYT8, RRP8, TIMM10B, SCT, SIRT3, SYT9, OR2D2, OR2D3, OR51A2, TAF10, TALDO1, TH, SIGIRR, OR2AG1, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR2AG2, ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, C11orf42, CARS1, CAVIN3, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FHIP1B, GATD1, HPX, H19, HBB, HBD, HBE1, HBG1, HBG2, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, ILK, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMNTD2-AS1, LMO1, LRRC56, LSP1, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL17, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RNH1, RPLP2, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, STIM1, TMEM80, TNNI2, TNNT3, TOLLIP, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, ZNF195, ZNF214, ZNF215
not providedPathogenic
(Dec 23, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr11:230615-26881146
ABCC8, ADM, AKIP1, AMPD3, ANO3, ANO5, ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BMAL1, BRSK2, BTBD10, C11orf16, C11orf21, C11orf40, C11orf42, C11orf58, CALCA, CALCB, CARS1, CAVIN3, CCDC179, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, COPB1, CRACR2B, CSNK2A3, CSRP3, CTR9, CTSD, CYB5R2, CYP2R1, DBX1, DCHS1, DEAF1, DENND2B, DENND5A, DKK3, DNHD1, DRD4, DUSP8, E2F8, EIF3F, EIF4G2, EPS8L2, FANCF, FAR1, FHIP1B, GALNT18, GAS2, GATD1, GTF2H1, H19, HBB, HBD, HBE1, HBG1, HBG2, HPS5, HPX, HRAS, HTATIP2, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, IGSF22, ILK, INS, INS-IGF2, INSC, IPO7, IRAG1, IRF7, KCNC1, KCNJ11, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LDHA, LDHAL6A, LDHC, LMNTD2, LMNTD2-AS1, LMO1, LRRC56, LSP1, LUZP2, LYVE1, MICAL2, MICALCL, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL17, MRPL23, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MYOD1, NAP1L4, NAV2, NCR3LG1, NELL1, NLRP10, NLRP14, NLRP6, NRIP3, NUCB2, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OTOG, OVCH2, PARVA, PDE3B, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PIK3C2A, PKP3, PLEKHA7, PNPLA2, POLR2L, PPFIBP2, PRMT3, PSMA1, PSMD13, PTDSS2, PTH, PTPN5, RASSF10, RASSF7, RBMXL2, RHOG, RIC3, RNF141, RNH1, RPL27A, RPLP2, RPS13, RRAS2, RRM1, RRP8, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SBF2, SCT, SCUBE2, SERGEF, SIGIRR, SIRT3, SLC17A6, SLC22A18, SLC22A18AS, SLC25A22, SLC5A12, SLC6A5, SMPD1, SNORA3B, SOX6, SPON1, SPTY2D1, STIM1, STK33, SVIP, SWAP70, SYT8, SYT9, TAF10, TALDO1, TEAD1, TH, TIMM10B, TMEM41B, TMEM80, TMEM86A, TMEM9B, TNNI2, TNNT3, TOLLIP, TPH1, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSG101, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, UEVLD, USH1C, USP47, WEE1, ZBED5, ZDHHC13, ZNF143, ZNF195, ZNF214, ZNF215
See casesPathogenicno assertion criteria provided
56.
GRCh37:
Chr11:230615-5525355
not providednot providedno assertion provided
57.
GRCh37:
Chr11:298501-4113028
Early infantile epileptic encephalopathy with suppression burstsUncertain significance
(Sep 10, 2020)
criteria provided, single submitter
58.
GRCh37:
Chr11:230615-4851537
See casesPathogenic
(Sep 10, 2020)
no assertion criteria provided
59.
GRCh37:
Chr11:210300-8664358
IFITM3, OR52D1, OR52E2, TRIM22, TRIM3, TSPAN32, TSPAN4, TRIM6, TRIM66, TRIM68, TRPM5, TSSC4, TUB, OR52E4, OR52N4, OR52N5, OR52R1, OR52N2, OR52E6, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL17, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, TRIM34, TRIM5, IFITM5, IGF2, IGF2-AS, ILK, LSP1, MIR210, LMO1, LRRC56, ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, C11orf42, CARS1, CAVIN3, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FHIP1B, GATD1, H19, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IFITM1, IFITM10, IFITM2, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMNTD2-AS1, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RIC8A, RNH1, RPLP2, RRM1, RRP8, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, STIM1, STK33, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM80, TNNI2, TNNT3, TOLLIP, TPP1, TRIM21, UBQLN3, UBQLNL, ZNF195, ZNF214, ZNF215
Silver-Russell syndrome 1Pathogenicno assertion criteria provided
60.
GRCh37:
Chr11:2683937-3207439
CARS1, CDKN1C, KCNQ1, KCNQ1DN, KCNQ1OT1, NAP1L4, OSBPL5, PHLDA2, SLC22A18, SLC22A18ASnot providedUncertain significance
(Jan 28, 2019)
no assertion criteria provided
61.
GRCh37:
Chr11:235934-33826995
ABCC8, ADM, AKIP1, AMPD3, ANO3, ANO5, ANO9, AP2A2, APBB1, ARFIP2, ARL14EP, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BBOX1, BDNF, BDNF-AS, BMAL1, BRSK2, BTBD10, C11orf16, C11orf21, C11orf40, C11orf42, C11orf58, C11orf91, CALCA, CALCB, CARS1, CAVIN3, CCDC179, CCDC34, CCDC73, CCKBR, CD151, CD59, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, COPB1, CRACR2B, CSNK2A3, CSRP3, CSTF3, CTR9, CTSD, CYB5R2, CYP2R1, DBX1, DCDC1, DCHS1, DEAF1, DENND2B, DENND5A, DEPDC7, DKK3, DNAJC24, DNHD1, DRD4, DUSP8, E2F8, EIF3F, EIF3M, EIF4G2, ELP4, EPS8L2, FANCF, FAR1, FBXO3, FHIP1B, FIBIN, FSHB, GALNT18, GAS2, GATD1, GTF2H1, H19, HBB, HBD, HBE1, HBG1, HBG2, HIPK3, HPS5, HPX, HRAS, HTATIP2, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, IGSF22, ILK, IMMP1L, INS, INS-IGF2, INSC, IPO7, IRAG1, IRF7, KCNA4, KCNC1, KCNJ11, KCNQ1, KCNQ1DN, KCNQ1OT1, KIAA1549L, KIF18A, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LDHA, LDHAL6A, LDHC, LGR4, LIN7C, LINC00294, LMNTD2, LMNTD2-AS1, LMO1, LRRC56, LSP1, LUZP2, LYVE1, METTL15, MICAL2, MICALCL, MIR210, MIR210HG, MIR610, MMP26, MOB2, MPPED2, MRGPRE, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL17, MRPL23, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MYOD1, NAP1L4, NAV2, NCR3LG1, NELL1, NLRP10, NLRP14, NLRP6, NRIP3, NUCB2, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OTOG, OVCH2, PARVA, PHRF1, PAX6, PDE3B, PGAP2, PGGHG, PHLDA2, PIDD1, PIK3C2A, PKP3, PLEKHA7, PNPLA2, POLR2L, PPFIBP2, PRMT3, PRRG4, PSMA1, PSMD13, PTDSS2, PTH, PTPN5, QSER1, RASSF10, RASSF7, RBMXL2, RCN1, RHOG, RIC3, RNF141, RNH1, RPL27A, RPLP2, RPS13, RRAS2, RRM1, RRP8, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SBF2, SCT, SCUBE2, SERGEF, SIGIRR, SIRT3, SLC17A6, SLC22A18, SLC22A18AS, SLC25A22, SLC5A12, SLC6A5, SMPD1, SNORA3B, SOX6, SPON1, SPTY2D1, STIM1, STK33, SVIP, SWAP70, SYT8, SYT9, TAF10, TALDO1, TCP11L1, TEAD1, TH, TIMM10B, TMEM41B, TMEM80, TMEM86A, TMEM9B, TNNI2, TNNT3, TOLLIP, TPH1, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSG101, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, UEVLD, USH1C, USP47, WEE1, WT1, WT1-AS, ZBED5, ZDHHC13, ZNF143, ZNF195, ZNF214, ZNF215
not providedPathogenic
(Oct 24, 2018)
no assertion criteria provided
62.
GRCh37:
Chr11:193146-12643136