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Items: 1 to 100 of 186

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:
Chr11:1996741-2909925
GRCh38:
Chr11:1975511-2888695
See casesPathogenic
(Jun 10, 2010)
no assertion criteria provided
12.
GRCh37:
Chr11:2128173-2586899
GRCh38:
Chr11:2106943-2565669
See casesUncertain significance
(Sep 9, 2013)
no assertion criteria provided
13.
GRCh37:
Chr11:2170582-2488772
GRCh38:
Chr11:2149352-2467542
See casesUncertain significance
(Apr 14, 2011)
no assertion criteria provided
14.
GRCh37:
Chr11:2180772
GRCh38:
Chr11:2159542
INS, INS-IGF2not providedBenign
(Aug 25, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr11:2180796
GRCh38:
Chr11:2159566
INS, INS-IGF2not providedBenign
(Aug 25, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr11:2180845
GRCh38:
Chr11:2159615
INS, INS-IGF2not providedBenign
(Aug 25, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr11:2181023
GRCh38:
Chr11:2159793
INS, INS-IGF2Permanent neonatal diabetes mellitusnot providedno assertion provided
18.
GRCh37:
Chr11:2181040
GRCh38:
Chr11:2159810
INS, INS-IGF2Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr11:2181054
GRCh38:
Chr11:2159824
INS, INS-IGF2Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr11:2181060
GRCh38:
Chr11:2159830
INS, INS-IGF2, THAutosomal recessive DOPA responsive dystonia, Hyperproinsulinemia, Maturity onset diabetes mellitus in young,
not provided, Diabetes mellitus type 1, Diabetes mellitus, permanent neonatal 4,
Transient Neonatal Diabetes, Dominant/Recessive, Maturity-onset diabetes of the young type 10, Type 1 diabetes mellitus 2
Conflicting interpretations of pathogenicity
(Jul 14, 2021)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr11:2181073
GRCh38:
Chr11:2159843
INS, INS-IGF2, THnot provided, not specified, Maturity-onset diabetes of the young type 10,
Transient Neonatal Diabetes, Dominant/Recessive, Autosomal recessive DOPA responsive dystonia, Maturity onset diabetes mellitus in young
Benign/Likely benign
(Aug 2, 2017)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:2181080
GRCh38:
Chr11:2159850
INS, INS-IGF2Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr11:2181089
GRCh38:
Chr11:2159859
INS, INS-IGF2C109FNeonatal diabetes mellitusLikely pathogeniccriteria provided, single submitter
24.
GRCh37:
Chr11:2181090-2181092
GRCh38:
Chr11:2159860-2159862
INS, INS-IGF2Y108delnot specified, Neonatal insulin-dependent diabetes mellitusConflicting interpretations of pathogenicity
(Apr 4, 2017)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr11:2181092
GRCh38:
Chr11:2159862
INS, INS-IGF2Y108CDiabetes mellitus, permanent neonatal 4Likely risk allelecriteria provided, single submitter
26.
GRCh37:
Chr11:2181093
GRCh38:
Chr11:2159863
INS, INS-IGF2Y108DNeonatal diabetes mellitusLikely pathogeniccriteria provided, single submitter
27.
GRCh37:
Chr11:2181107
GRCh38:
Chr11:2159877
INS, INS-IGF2Y103CPermanent neonatal diabetes mellitus, Diabetes mellitus, permanent neonatal 4, not provided
Conflicting interpretations of pathogenicity
(Nov 6, 2021)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr11:2181113
GRCh38:
Chr11:2159883
INS-IGF2, INSS101CDiabetes mellitus, permanent neonatal 4Likely risk allelecriteria provided, single submitter
29.
GRCh37:
Chr11:2181116
GRCh38:
Chr11:2159886
INS, INS-IGF2C100Ynot providedLikely pathogenic
(Jun 21, 2022)
no assertion criteria provided
30.
GRCh37:
Chr11:2181122
GRCh38:
Chr11:2159892
INS, INS-IGF2S98INeonatal diabetes mellitusLikely pathogeniccriteria provided, single submitter
31.
GRCh37:
Chr11:2181123
GRCh38:
Chr11:2159893
INS, INS-IGF2S98Cnot specified, Neonatal insulin-dependent diabetes mellitusUncertain significance/Uncertain risk allele
(Mar 22, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:2181125
GRCh38:
Chr11:2159895
INS, INS-IGF2T97SNeonatal insulin-dependent diabetes mellitus, Maturity-onset diabetes of the young type 10Conflicting interpretations of pathogenicity
(Sep 7, 2017)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr11:2181126
GRCh38:
Chr11:2159896
INS, INS-IGF2T97Pnot providedLikely pathogenic
(Jan 30, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr11:2181128
GRCh38:
Chr11:2159898
INS, INS-IGF2C96SPermanent neonatal diabetes mellitusnot providedno assertion provided
35.
GRCh37:
Chr11:2181128
GRCh38:
Chr11:2159898
INS, INS-IGF2C96YDiabetes mellitus, permanent neonatal 4, not provided, Neonatal diabetes mellitus
Conflicting interpretations of pathogenicity
(Jun 18, 2014)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr11:2181129
GRCh38:
Chr11:2159899
INS-IGF2, INSC96RDiabetes mellitusLikely pathogenicno assertion criteria provided
37.
GRCh37:
Chr11:2181131
GRCh38:
Chr11:2159901
INS, INS-IGF2C95YINS-related conditionLikely pathogenic
(Jul 19, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr11:2181137
GRCh38:
Chr11:2159907
INS, INS-IGF2E93GMonogenic diabetesLikely pathogenic
(Mar 18, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr11:2181138
GRCh38:
Chr11:2159908
INS-IGF2, INSE93Knot providedUncertain significance
(Jul 23, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:2181141
GRCh38:
Chr11:2159911
INS, INS-IGF2V92LHyperproinsulinemiaPathogenic
(Dec 1, 1986)
no assertion criteria provided
41.
GRCh37:
Chr11:2181147
GRCh38:
Chr11:2159917
INS, INS-IGF2G90CPermanent neonatal diabetes mellitusnot providedno assertion provided
42.
GRCh37:
Chr11:2181149
GRCh38:
Chr11:2159919
INS, INS-IGF2R89PHyperproinsulinemiaPathogenic
(May 1, 1997)
no assertion criteria provided
43.
GRCh37:
Chr11:2181149
GRCh38:
Chr11:2159919
INS-IGF2, INSR89LHyperproinsulinemiaPathogenic
(Jun 1, 1992)
no assertion criteria provided
44.
GRCh37:
Chr11:2181149
GRCh38:
Chr11:2159919
INS-IGF2, INSR89HINS-related condition, Hyperproinsulinemia, not provided
Pathogenic/Likely pathogenic
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr11:2181150
GRCh38:
Chr11:2159920
INS, INS-IGF2R89Cnot provided, Neonatal diabetes mellitus, Permanent neonatal diabetes mellitus
Pathogenic/Likely pathogenic
(Mar 3, 2023)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:2181165
GRCh38:
Chr11:2159935
INS-IGF2, INSG84RPermanent neonatal diabetes mellitusnot providedno assertion provided
47.
GRCh37:
Chr11:2181188
GRCh38:
Chr11:2159958
INS, INS-IGF2S76NType 1 diabetes mellitus 2, Maturity-onset diabetes of the young type 10, Hyperproinsulinemia,
not specified, not provided
Conflicting interpretations of pathogenicity
(Sep 8, 2023)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr11:2181203
GRCh38:
Chr11:2159973
INS, INS-IGF2G71Anot providedUncertain significance
(Aug 26, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:2181208
GRCh38:
Chr11:2159978
INS, INS-IGF2not providedLikely benign
(Oct 23, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr11:2181209
GRCh38:
Chr11:2159979
INS, INS-IGF2G69DINS-related conditionUncertain significance
(Jun 11, 2023)
criteria provided, single submitter
51.
GRCh37:
Chr11:2181213
GRCh38:
Chr11:2159983
INS, INS-IGF2L68Mnot providedUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr11:2181221
GRCh38:
Chr11:2159991
INS, INS-IGF2Q65Rnot providedUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr11:2181230
GRCh38:
Chr11:2160000
INS, INS-IGF2Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr11:2181231-2181232
GRCh38:
Chr11:2160001-2160002
INS, INS-IGF2not providedUncertain significance
(Aug 4, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr11:2181237
GRCh38:
Chr11:2160007
INS, INS-IGF2Type 1 diabetes mellitus 2, Maturity-onset diabetes of the young type 10, Hyperproinsulinemia,
Diabetes mellitus, permanent neonatal 4, Transient Neonatal Diabetes, Dominant/Recessive, not specified,
Maturity onset diabetes mellitus in young, not provided, Maturity-onset diabetes of the young type 10,
Neonatal insulin-dependent diabetes mellitus
Benign/Likely benign
(Oct 2, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:2181238
GRCh38:
Chr11:2160008
INS-IGF2, INSnot providedBenign
(Aug 16, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:2181243
GRCh38:
Chr11:2160013
INS, INS-IGF2Hyperproinsulinemia, Diabetes mellitus, permanent neonatal 4, Maturity-onset diabetes of the young type 10,
Type 1 diabetes mellitus 2, not specified, not provided,
Neonatal diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
Benign/Likely benign
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:2181258
GRCh38:
Chr11:2160028
INS-IGF2, INSNeonatal insulin-dependent diabetes mellitus, Permanent neonatal diabetes mellitus, not provided
Pathogenic/Likely risk allele
(Aug 5, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:2181270
GRCh38:
Chr11:2160040
INS, INS-IGF2INS-related conditionUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
60.
GRCh37:
Chr11:2181323
GRCh38:
Chr11:2160093
INS, INS-IGF2not specified, Neonatal insulin-dependent diabetes mellitusConflicting interpretations of pathogenicity
(Nov 24, 2015)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr11:2181324
GRCh38:
Chr11:2160094
INS, INS-IGF2not specifiedUncertain significance
(Jun 11, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr11:2181338
GRCh38:
Chr11:2160108
INS, INS-IGF2not providedBenign
(Apr 10, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr11:2181341
GRCh38:
Chr11:2160111
INS, INS-IGF2not specifiedLikely benign
(Jul 23, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr11:2181364
GRCh38:
Chr11:2160134
INS, INS-IGF2not specifiedUncertain significance
(Jul 16, 2020)
criteria provided, single submitter
65.
GRCh37:
Chr11:2181395
GRCh38:
Chr11:2160165
INS, INS-IGF2not providedBenign
(Aug 9, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr11:2181447
GRCh38:
Chr11:2160217
INS-IGF2, INSnot specified, Neonatal insulin-dependent diabetes mellitusBenign/Likely benign
(Aug 23, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:2181460
GRCh38:
Chr11:2160230
INS, INS-IGF2not specifiedUncertain significance
(Mar 27, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr11:2181624
GRCh38:
Chr11:2160394
INS, INS-IGF2not specifiedLikely benign
(Jul 8, 2022)
no assertion criteria provided
69.
GRCh37:
Chr11:2181733
GRCh38:
Chr11:2160503
INS-IGF2, INSnot providedLikely benign
(Sep 29, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr11:2181744
GRCh38:
Chr11:2160514
INS, INS-IGF2not specifiedUncertain significance
(May 21, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr11:2181774
GRCh38:
Chr11:2160544
INS, INS-IGF2Diabetes mellitus, permanent neonatal 4Pathogenic
(Dec 1, 2020)
no assertion criteria provided
72.
GRCh37:
Chr11:2181812
GRCh38:
Chr11:2160582
INS-IGF2, INSnot specifiedLikely benign
(Apr 21, 2020)
criteria provided, single submitter
73.
GRCh37:
Chr11:2182000
GRCh38:
Chr11:2160770
INS, INS-IGF2Neonatal insulin-dependent diabetes mellitusBenigncriteria provided, single submitter
74.
GRCh37:
Chr11:2182000
GRCh38:
Chr11:2160770
INS, INS-IGF2Transient Neonatal Diabetes, Dominant/Recessive, Maturity-onset diabetes of the young type 10Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr11:2182004
GRCh38:
Chr11:2160774
INS, INS-IGF2, THnot specified, Autosomal recessive DOPA responsive dystonia, not provided,
Type 1 diabetes mellitus 2, Hyperproinsulinemia, Maturity-onset diabetes of the young type 10,
Diabetes mellitus, permanent neonatal 4, Transient Neonatal Diabetes, Dominant/Recessive, Maturity onset diabetes mellitus in young,
Maturity-onset diabetes of the young type 10
Benign/Likely benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr11:2182014-2182571
GRCh38:
Chr11:2160784-2161341
INS, INS-IGF2Permanent neonatal diabetes mellitusnot providedno assertion provided
77.
GRCh37:
Chr11:2182028
GRCh38:
Chr11:2160798
INS, INS-IGF2E59fsNeonatal insulin-dependent diabetes mellitusLikely pathogeniccriteria provided, single submitter
78.
GRCh37:
Chr11:2182039
GRCh38:
Chr11:2160809
INS, INS-IGF2R55Cnot providedPathogenic/Likely pathogenic
(Mar 10, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr11:2182047
GRCh38:
Chr11:2160817
INS, INS-IGF2P52RNeonatal insulin-dependent diabetes mellitusLikely pathogeniccriteria provided, single submitter
80.
GRCh37:
Chr11:2182047
GRCh38:
Chr11:2160817
INS, INS-IGF2P52HMaturity-onset diabetes of the young type 10Uncertain significance
(Oct 26, 2020)
criteria provided, single submitter
81.
GRCh37:
Chr11:2182047
GRCh38:
Chr11:2160817
INS, INS-IGF2P52LMaturity-onset diabetes of the young type 10Pathogenic
(Jan 10, 2020)
criteria provided, single submitter
82.
GRCh37:
Chr11:2182049
GRCh38:
Chr11:2160819
INS, INS-IGF2Inborn genetic diseases, Neonatal insulin-dependent diabetes mellitus, not provided
Benign/Likely benign
(Nov 27, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr11:2182049
GRCh38:
Chr11:2160819
INS, INS-IGF2not specified, Maturity-onset diabetes of the young type 10, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Apr 6, 2020)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr11:2182052
GRCh38:
Chr11:2160822
INS, INS-IGF2Inborn genetic diseasesLikely benign
(Oct 23, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:2182055
GRCh38:
Chr11:2160825
INS, INS-IGF2not specifiedUncertain significance
(Oct 24, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr11:2182055
GRCh38:
Chr11:2160825
INS, INS-IGF2F49LHyperproinsulinemiaPathogenic
(Apr 7, 1983)
no assertion criteria provided
87.
GRCh37:
Chr11:2182057
GRCh38:
Chr11:2160827
INS, INS-IGF2F49LInborn genetic diseasesUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr11:2182058-2182072
GRCh38:
Chr11:2160828-2160842
INS, INS-IGF2Neonatal insulin-dependent diabetes mellitus, not specifiedConflicting interpretations of pathogenicity
(Dec 6, 2016)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr11:2182059
GRCh38:
Chr11:2160829
INS, INS-IGF2F48CNeonatal diabetes mellitusLikely pathogeniccriteria provided, single submitter
90.
GRCh37:
Chr11:2182059
GRCh38:
Chr11:2160829
INS, INS-IGF2F48SHyperproinsulinemiaPathogenic
(Jan 15, 1993)
no assertion criteria provided
91.
GRCh37:
Chr11:2182062
GRCh38:
Chr11:2160832
INS-IGF2, INSG47VPermanent neonatal diabetes mellitusnot providedno assertion provided
92.
GRCh37:
Chr11:2182065
GRCh38:
Chr11:2160835
INS, INS-IGF2R46Qnot providedLikely pathogenic
(Sep 1, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr11:2182066
GRCh38:
Chr11:2160836
INS, INS-IGF2R46*INS-related conditionLikely pathogenic
(Feb 13, 2023)
criteria provided, single submitter
94.
GRCh37:
Chr11:2182072
GRCh38:
Chr11:2160842
INS, INS-IGF2G44Rnot provided, Maturity-onset diabetes of the young type 10, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Aug 15, 2019)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr11:2182075
GRCh38:
Chr11:2160845
INS-IGF2, INSC43GDiabetes mellitus, permanent neonatal 4Pathogenic
(Sep 18, 2007)
no assertion criteria provided
96.
GRCh37:
Chr11:2182077
GRCh38:
Chr11:2160847
INS-IGF2, INSV42AMaturity-onset diabetes of the young type 10Likely pathogenic
(Jan 20, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr11:2182087
GRCh38:
Chr11:2160857
IGF2, INS, INS-IGF2L39FMaturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 10Likely pathogenic
(Feb 23, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr11:2182098
GRCh38:
Chr11:2160868
INS-IGF2, INSL35PPermanent neonatal diabetes mellitusnot providedno assertion provided
99.
GRCh37:
Chr11:2182099
GRCh38:
Chr11:2160869
INS, INS-IGF2L35MNeonatal diabetes mellitusLikely pathogeniccriteria provided, single submitter
100.
GRCh37:
Chr11:2182099
GRCh38:
Chr11:2160869
INS, INS-IGF2L35Vnot providedLikely pathogenic
(Jun 4, 2021)
criteria provided, single submitter
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