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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:
Chr11:446754-18926289
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
3.
GRCh37:
Chr11:6282812-6659230
GRCh38:
Chr11:6261582-6637999
See casesPathogenic
(Jan 30, 2010)
no assertion criteria provided
4.
GRCh37:
Chr11:6634003
GRCh38:
Chr11:6612772
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr11:6634036
GRCh38:
Chr11:6612805
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr11:6634062
GRCh38:
Chr11:6612831
TPP1Neuronal Ceroid-Lipofuscinosis, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr11:6634143
GRCh38:
Chr11:6612912
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr11:6634149
GRCh38:
Chr11:6612918
TPP1Neuronal ceroid lipofuscinosis 2Benign
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr11:6634189
GRCh38:
Chr11:6612958
TPP1Neuronal ceroid lipofuscinosis 2Benign
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr11:6634207
GRCh38:
Chr11:6612976
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr11:6634217
GRCh38:
Chr11:6612986
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr11:6634237
GRCh38:
Chr11:6613006
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr11:6634269
GRCh38:
Chr11:6613038
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr11:6634299
GRCh38:
Chr11:6613068
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr11:6634349
GRCh38:
Chr11:6613118
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr11:6634365
GRCh38:
Chr11:6613134
TPP1Neuronal Ceroid-Lipofuscinosis, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr11:6634466
GRCh38:
Chr11:6613235
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr11:6634475
GRCh38:
Chr11:6613244
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr11:6634495
GRCh38:
Chr11:6613264
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr11:6634527
GRCh38:
Chr11:6613296
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr11:6634560-6634561
GRCh38:
Chr11:6613329-6613330
TPP1not provided, Neuronal Ceroid-Lipofuscinosis, RecessiveConflicting interpretations of pathogenicity
(Jul 1, 2023)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr11:6634659
GRCh38:
Chr11:6613428
TPP1Neuronal ceroid lipofuscinosis 2Benign
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr11:6634669
GRCh38:
Chr11:6613438
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr11:6634777
GRCh38:
Chr11:6613546
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr11:6634791
GRCh38:
Chr11:6613560
TPP1Neuronal ceroid lipofuscinosis 2Likely benign
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr11:6634793
GRCh38:
Chr11:6613562
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr11:6634840
GRCh38:
Chr11:6613609
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr11:6634948
GRCh38:
Chr11:6613717
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr11:6634992
GRCh38:
Chr11:6613761
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr11:6635061
GRCh38:
Chr11:6613830
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr11:6635073
GRCh38:
Chr11:6613842
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr11:6635109
GRCh38:
Chr11:6613878
TPP1Neuronal Ceroid-Lipofuscinosis, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr11:6635431
GRCh38:
Chr11:6614200
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr11:6635463
GRCh38:
Chr11:6614232
TPP1Neuronal Ceroid-Lipofuscinosis, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr11:6635465
GRCh38:
Chr11:6614234
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr11:6635536
GRCh38:
Chr11:6614305
TPP1Neuronal ceroid lipofuscinosis 2Benign
(Apr 27, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr11:6635554
GRCh38:
Chr11:6614323
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr11:6635606
GRCh38:
Chr11:6614375
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr11:6635653
GRCh38:
Chr11:6614422
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr11:6635706
GRCh38:
Chr11:6614475
TPP1Neuronal ceroid lipofuscinosis 2Benign
(Jan 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr11:6635733
GRCh38:
Chr11:6614502
TPP1Neuronal ceroid lipofuscinosis 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr11:6635765
GRCh38:
Chr11:6614534
TPP1not providedLikely benign
(Nov 20, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr11:6635779
GRCh38:
Chr11:6614548
TPP1not providedUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:6635782
GRCh38:
Chr11:6614551
TPP1P563Snot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr11:6635783
GRCh38:
Chr11:6614552
TPP1not providedLikely benign
(Nov 21, 2020)
criteria provided, single submitter
46.
GRCh37:
Chr11:6635786-6635790
GRCh38:
Chr11:6614555-6614559
TPP1L560fsnot providedPathogenic
(Jan 26, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:6635786
GRCh38:
Chr11:6614555
TPP1not providedLikely benign
(May 20, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr11:6635788
GRCh38:
Chr11:6614557
TPP1L561Fnot provided, Inborn genetic diseasesUncertain significance
(Sep 12, 2023)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr11:6635788
GRCh38:
Chr11:6614557
TPP1L561Vnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr11:6635790
GRCh38:
Chr11:6614559
TPP1L560PNeuronal ceroid lipofuscinosis 2Uncertain significancecriteria provided, single submitter
51.
GRCh37:
Chr11:6635790-6635791
GRCh38:
Chr11:6614559-6614560
TPP1L560fsnot provided, Neuronal ceroid lipofuscinosisPathogenic
(Aug 17, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr11:6635793
GRCh38:
Chr11:6614562
TPP1T559Snot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr11:6635795
GRCh38:
Chr11:6614564
TPP1K558Nnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:6635798
GRCh38:
Chr11:6614567
TPP1not providedConflicting interpretations of pathogenicity
(Aug 11, 2023)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr11:6635799
GRCh38:
Chr11:6614568
TPP1L557Pnot providedUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:6635800
GRCh38:
Chr11:6614569
TPP1L557Mnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr11:6635805
GRCh38:
Chr11:6614574
TPP1A555Dnot providedUncertain significance
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:6635806
GRCh38:
Chr11:6614575
TPP1A555Tnot providedUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:6635807
GRCh38:
Chr11:6614576
TPP1not providedLikely benign
(Apr 15, 2020)
criteria provided, single submitter
60.
GRCh37:
Chr11:6635807-6635808
GRCh38:
Chr11:6614576-6614577
TPP1A555fsNeuronal ceroid lipofuscinosis 2Likely pathogenic
(Feb 29, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr11:6635809
GRCh38:
Chr11:6614578
TPP1P554Snot providedUncertain significance
(Jun 4, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:6635815-6635816
GRCh38:
Chr11:6614584-6614585
TPP1N552fsnot providedPathogenic
(Mar 8, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:6635816
GRCh38:
Chr11:6614585
TPP1Neuronal ceroid lipofuscinosis 2, not provided, not specified
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr11:6635817
GRCh38:
Chr11:6614586
TPP1P551Rnot providedUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:6635825
GRCh38:
Chr11:6614594
TPP1W548*not providedUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr11:6635826
GRCh38:
Chr11:6614595
TPP1W548*not providedUncertain significance
(Sep 26, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:6635827
GRCh38:
Chr11:6614596
TPP1W548RNeuronal ceroid lipofuscinosis 2Uncertain significance
(Feb 23, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr11:6635828
GRCh38:
Chr11:6614597
TPP1not providedLikely benign
(May 30, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr11:6635828
GRCh38:
Chr11:6614597
TPP1not providedUncertain significance
(Aug 1, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr11:6635832
GRCh38:
Chr11:6614601
TPP1T546Inot providedUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:6635834
GRCh38:
Chr11:6614603
TPP1not providedLikely benign
(Aug 9, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr11:6635835
GRCh38:
Chr11:6614604
TPP1V545Anot providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr11:6635836
GRCh38:
Chr11:6614605
TPP1V545Lnot providedUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr11:6635837
GRCh38:
Chr11:6614606
TPP1not providedLikely benign
(Jun 2, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:6635839
GRCh38:
Chr11:6614608
TPP1P544SNeuronal ceroid lipofuscinosis 2not providedno assertion provided
76.
GRCh37:
Chr11:6635843
GRCh38:
Chr11:6614612
TPP1W542*Neuronal ceroid lipofuscinosis 2, not providedPathogenic
(Jan 16, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr11:6635848
GRCh38:
Chr11:6614617
TPP1G541Snot providedUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr11:6635848-6635858
GRCh38:
Chr11:6614617-6614627
TPP1C537fsNeuronal ceroid lipofuscinosis 2Likely pathogenic
(Jul 14, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr11:6635855
GRCh38:
Chr11:6614624
TPP1not providedLikely benign
(Aug 15, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:6635856
GRCh38:
Chr11:6614625
TPP1S538Ynot providedPathogenic
(Aug 3, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:6635856
GRCh38:
Chr11:6614625
TPP1S538Cnot providedUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr11:6635859
GRCh38:
Chr11:6614628
TPP1C537Ynot providedUncertain significance
(Feb 12, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr11:6635866
GRCh38:
Chr11:6614635
TPP1G535Snot providedLikely pathogenic
(Apr 22, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr11:6635868
GRCh38:
Chr11:6614637
TPP1Q534Rnot providedUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:6635869
GRCh38:
Chr11:6614638
TPP1Q534*not providedPathogenic
(Aug 19, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:6635872
GRCh38:
Chr11:6614641
TPP1G533Snot providedUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr11:6635875-6635876
GRCh38:
Chr11:6614644-6614645
TPP1E532fsnot providedPathogenic
(Oct 28, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr11:6635876
GRCh38:
Chr11:6614645
TPP1not providedLikely benign
(Oct 23, 2017)
criteria provided, single submitter
89.
GRCh37:
Chr11:6635877
GRCh38:
Chr11:6614646
TPP1V531Anot providedUncertain significance
(Aug 16, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr11:6635878
GRCh38:
Chr11:6614647
TPP1V531Inot providedUncertain significance
(Apr 9, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:6635879
GRCh38:
Chr11:6614648
TPP1not providedLikely benign
(Jan 15, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:6635881
GRCh38:
Chr11:6614650
TPP1E530Knot providedUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:6635884
GRCh38:
Chr11:6614653
TPP1E529Knot providedUncertain significance
(Aug 13, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr11:6635887
GRCh38:
Chr11:6614656
TPP1D528Nnot providedUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:6635895
GRCh38:
Chr11:6614664
TPP1S525Fnot providedUncertain significance
(Sep 8, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr11:6635899
GRCh38:
Chr11:6614668
TPP1E524KNeuronal ceroid lipofuscinosis 2Uncertain significance
(Apr 14, 2020)
no assertion criteria provided
97.
GRCh37:
Chr11:6635900
GRCh38:
Chr11:6614669
TPP1not providedLikely benign
(Jun 19, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr11:6635904
GRCh38:
Chr11:6614673
TPP1C522Ynot providedUncertain significance
(Jan 14, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr11:6635906
GRCh38:
Chr11:6614675
TPP1not providedLikely benign
(Aug 30, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr11:6635910
GRCh38:
Chr11:6614679
TPP1R520Hnot providedUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
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