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Items: 1 to 100 of 435

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
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
2.
GRCh37:
Chr11:17406904
GRCh38:
Chr11:17385357
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13		Uncertain significance
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr11:17407051
GRCh38:
Chr11:17385504
KCNJ11Maturity onset diabetes mellitus in youngUncertain significancecriteria provided, single submitter
4.
GRCh37:
Chr11:17407051
GRCh38:
Chr11:17385504
KCNJ11Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
5.
GRCh37:
Chr11:17407246
GRCh38:
Chr11:17385699
KCNJ11Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Hyperinsulinemic hypoglycemia, familial, 2		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr11:17407269
GRCh38:
Chr11:17385722
KCNJ11Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2,
Maturity-onset diabetes of the young type 13, not provided		Conflicting interpretations of pathogenicity
(Jun 1, 2023)		criteria provided, conflicting interpretations
7.
GRCh37:
Chr11:17407298
GRCh38:
Chr11:17385751
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, not provided,
Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13		Conflicting interpretations of pathogenicity
(Nov 2, 2021)		criteria provided, conflicting interpretations
8.
GRCh37:
Chr11:17407411
GRCh38:
Chr11:17385864
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young,
Diabetes mellitus, transient neonatal, 3		Uncertain significance
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:17407429
GRCh38:
Chr11:17385882
KCNJ11Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13,
Hyperinsulinemic hypoglycemia, familial, 2		Uncertain significance
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:17407529
GRCh38:
Chr11:17385982
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young,
Diabetes mellitus, transient neonatal, 3		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:17407604
GRCh38:
Chr11:17386057
KCNJ11Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2,
Maturity-onset diabetes of the young type 13		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
12.
GRCh37:
Chr11:17407617
GRCh38:
Chr11:17386070
KCNJ11Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3,
Hyperinsulinemic hypoglycemia, familial, 2		Uncertain significance
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr11:17407618
GRCh38:
Chr11:17386071
KCNJ11Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Hyperinsulinemic hypoglycemia, familial, 2		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr11:17407624
GRCh38:
Chr11:17386077
KCNJ11Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3,
Hyperinsulinemic hypoglycemia, familial, 2		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr11:17407638-17407639
GRCh38:
Chr11:17386091-17386092
KCNJ11Maturity onset diabetes mellitus in young, Hyperinsulinism, Dominant/Recessive, Transient Neonatal Diabetes, Dominant
Uncertain significance
(Jun 14, 2016)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr11:17407700
GRCh38:
Chr11:17386153
KCNJ11Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2,
Maturity-onset diabetes of the young type 13, not provided		Conflicting interpretations of pathogenicity
(May 1, 2023)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr11:17407734
GRCh38:
Chr11:17386187
KCNJ11Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2,
Maturity-onset diabetes of the young type 13		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr11:17407765
GRCh38:
Chr11:17386218
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13		Uncertain significance
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr11:17407769
GRCh38:
Chr11:17386222
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr11:17407780
GRCh38:
Chr11:17386233
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr11:17407788
GRCh38:
Chr11:17386241
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13,
Diabetes mellitus, transient neonatal, 3		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:17407920
GRCh38:
Chr11:17386373
KCNJ11Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3,
Hyperinsulinemic hypoglycemia, familial, 2		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr11:17407937
GRCh38:
Chr11:17386390
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr11:17407979
GRCh38:
Chr11:17386432
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13, not provided		Conflicting interpretations of pathogenicity
(Oct 24, 2021)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr11:17408025
GRCh38:
Chr11:17386478
KCNJ11Maturity-onset diabetes of the young type 13, not provided, Diabetes mellitus, transient neonatal, 3,
Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus		Conflicting interpretations of pathogenicity
(May 12, 2021)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr11:17408090
GRCh38:
Chr11:17386543
KCNJ11not provided, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young,
Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13		Conflicting interpretations of pathogenicity
(May 13, 2021)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr11:17408155
GRCh38:
Chr11:17386608
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr11:17408178
GRCh38:
Chr11:17386631
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13, not provided		Conflicting interpretations of pathogenicity
(Jun 30, 2019)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr11:17408248
GRCh38:
Chr11:17386701
KCNJ11Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2,
Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13
Uncertain significance
(May 10, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr11:17408251
GRCh38:
Chr11:17386704
KCNJ11not provided, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2,
Type II diabetes mellitus, Maturity-onset diabetes of the young type 13		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr11:17408367
GRCh38:
Chr11:17386820
KCNJ11Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13,
Hyperinsulinemic hypoglycemia, familial, 2		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:17408374
GRCh38:
Chr11:17386827
KCNJ11not provided, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young,
Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13		Conflicting interpretations of pathogenicity
(Dec 12, 2018)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr11:17408390
GRCh38:
Chr11:17386843
KCNJ11not provided, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2,
Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young		Conflicting interpretations of pathogenicity
(Nov 16, 2018)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr11:17408404
GRCh38:
Chr11:17386857
KCNJ11Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3,
Hyperinsulinemic hypoglycemia, familial, 2		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr11:17408416
GRCh38:
Chr11:17386869
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr11:17408426
GRCh38:
Chr11:17386879
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr11:17408467
GRCh38:
Chr11:17386920
KCNJ11Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3,
Hyperinsulinemic hypoglycemia, familial, 2		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr11:17408472
GRCh38:
Chr11:17386925
KCNJ11not providedLikely benign
(Nov 11, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr11:17408475
GRCh38:
Chr11:17386928
KCNJ11not providedLikely benign
(Jul 25, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr11:17408478
GRCh38:
Chr11:17386931
KCNJ11not providedLikely benign
(Feb 13, 2019)		criteria provided, single submitter
41.
GRCh37:
Chr11:17408484
GRCh38:
Chr11:17386937
KCNJ11not providedLikely benign
(Dec 25, 2021)		criteria provided, single submitter
42.
GRCh37:
Chr11:17408484
GRCh38:
Chr11:17386937
KCNJ11not providedLikely benign
(Oct 14, 2020)		criteria provided, single submitter
43.
GRCh37:
Chr11:17408485
GRCh38:
Chr11:17386938
KCNJ11S298F, S385Fnot providedUncertain significance
(May 25, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr11:17408485
GRCh38:
Chr11:17386938
KCNJ11S385C, S298CMonogenic diabetes, Maturity-onset diabetes of the young type 13, not specified,
Maturity onset diabetes mellitus in young, not provided, Neonatal diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3		Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr11:17408487
GRCh38:
Chr11:17386940
KCNJ11not specified, not providedLikely benign
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:17408490
GRCh38:
Chr11:17386943
KCNJ11not providedLikely benign
(Apr 18, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr11:17408495-17408496
GRCh38:
Chr11:17386948-17386949
KCNJ11Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Diabetes mellitus, transient neonatal, 3,
Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, Permanent neonatal diabetes mellitus,
Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, not specified,
Maturity onset diabetes mellitus in young		Uncertain significance
(Jul 2, 2021)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr11:17408496
GRCh38:
Chr11:17386949
KCNJ11Maturity-onset diabetes of the young type 13, not specified, not provided,
Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Hyperinsulinemia
Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr11:17408508
GRCh38:
Chr11:17386961
KCNJ11not providedLikely benign
(Jan 11, 2021)		criteria provided, single submitter
50.
GRCh37:
Chr11:17408513
GRCh38:
Chr11:17386966
KCNJ11A289S, A376SMaturity onset diabetes mellitus in youngUncertain significancecriteria provided, single submitter
51.
GRCh37:
Chr11:17408516
GRCh38:
Chr11:17386969
KCNJ11M375V, M288Vnot provided, Maturity onset diabetes mellitus in youngUncertain significance
(Mar 2, 2015)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr11:17408522
GRCh38:
Chr11:17386975
KCNJ11V286M, V373Mnot provided, Maturity onset diabetes mellitus in youngConflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr11:17408523
GRCh38:
Chr11:17386976
KCNJ11not providedLikely benign
(Oct 14, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr11:17408527
GRCh38:
Chr11:17386980
KCNJ11R371H, R284HPermanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2,
Maturity onset diabetes mellitus in young		Uncertain significance
(Sep 27, 2017)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr11:17408533
GRCh38:
Chr11:17386986
KCNJ11R282H, R369Hnot providedUncertain significance
(Nov 17, 2019)		criteria provided, single submitter
56.
GRCh37:
Chr11:17408533
GRCh38:
Chr11:17386986
KCNJ11R282L, R369LDiabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Diabetes mellitus, permanent neonatal 2,
Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, not specified
Uncertain significance
(Dec 15, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:17408534
GRCh38:
Chr11:17386987
KCNJ11R282C, R369CMaturity onset diabetes mellitus in youngUncertain significancecriteria provided, single submitter
58.
GRCh37:
Chr11:17408543
GRCh38:
Chr11:17386996
KCNJ11G366R, G279Rnot providedUncertain significance
(Feb 28, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr11:17408544
GRCh38:
Chr11:17386997
KCNJ11Maturity-onset diabetes of the young type 13, Inborn genetic diseases, Maturity onset diabetes mellitus in young,
Diabetes mellitus, transient neonatal, 3, not specified, Hyperinsulinemic hypoglycemia, familial, 2,
not provided		Conflicting interpretations of pathogenicity
(Aug 10, 2023)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr11:17408545
GRCh38:
Chr11:17386998
KCNJ11R365H, R278HPermanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2,
Maturity onset diabetes mellitus in young		Uncertain significance
(Aug 4, 2017)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr11:17408546
GRCh38:
Chr11:17386999
KCNJ11R365C, R278CMaturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 2, Permanent neonatal diabetes mellitus,
Diabetes mellitus, transient neonatal, 3, not provided		Uncertain significance
(Jan 11, 2017)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr11:17408547
GRCh38:
Chr11:17387000
KCNJ11not providedLikely benign
(Nov 21, 2020)		criteria provided, single submitter
63.
GRCh37:
Chr11:17408550-17408551
GRCh38:
Chr11:17387003-17387004
KCNJ11S276L, S363Lnot providedUncertain significance
(Dec 21, 2021)		criteria provided, single submitter
64.
GRCh37:
Chr11:17408550
GRCh38:
Chr11:17387003
KCNJ11not providedLikely benign
(Jan 1, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr11:17408550
GRCh38:
Chr11:17387003
KCNJ11not specified, Inborn genetic diseases, Maturity-onset diabetes of the young type 13,
not provided, Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 2,
Diabetes mellitus, transient neonatal, 3		Conflicting interpretations of pathogenicity
(Oct 23, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr11:17408553
GRCh38:
Chr11:17387006
KCNJ11not providedLikely benign
(Mar 3, 2020)		criteria provided, single submitter
67.
GRCh37:
Chr11:17408555
GRCh38:
Chr11:17387008
KCNJ11A362T, A275Tnot provided, Maturity onset diabetes mellitus in youngUncertain significance
(Jun 5, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr11:17408556
GRCh38:
Chr11:17387009
KCNJ11not providedLikely benign
(Apr 10, 2021)		criteria provided, single submitter
69.
GRCh37:
Chr11:17408562
GRCh38:
Chr11:17387015
KCNJ11Maturity onset diabetes mellitus in young, not providedConflicting interpretations of pathogenicity
(May 28, 2022)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr11:17408574-17408575
GRCh38:
Chr11:17387027-17387028
KCNJ11L356fs, L269fsPermanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2,
Maturity onset diabetes mellitus in young		Conflicting interpretations of pathogenicity
(Nov 27, 2017)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr11:17408575
GRCh38:
Chr11:17387028
KCNJ11L355P, L268PHyperinsulinemic hypoglycemia, familial, 2, not specified, Maturity onset diabetes mellitus in young,
Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3		Uncertain significance
(Apr 27, 2017)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:17408577
GRCh38:
Chr11:17387030
KCNJ11Maturity onset diabetes mellitus in young, not providedConflicting interpretations of pathogenicity
(Oct 5, 2017)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr11:17408583
GRCh38:
Chr11:17387036
KCNJ11D265E, D352Enot providedUncertain significance
(Nov 25, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr11:17408593
GRCh38:
Chr11:17387046
KCNJ11L262P, L349PHyperinsulinemic hypoglycemia, familial, 2Uncertain significance
(May 8, 2023)		criteria provided, single submitter
75.
GRCh37:
Chr11:17408595
GRCh38:
Chr11:17387048
KCNJ11Q261H, Q348HMonogenic diabetes, Transitory neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3,
Diabetes mellitus, permanent neonatal 2, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus,
Maturity-onset diabetes of the young type 13		Uncertain significance
(Oct 5, 2021)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr11:17408598
GRCh38:
Chr11:17387051
KCNJ11not providedLikely benign
(Aug 16, 2022)		criteria provided, single submitter
77.
GRCh37:
Chr11:17408599
GRCh38:
Chr11:17387052
KCNJ11R347H, R260HInborn genetic diseases, not provided, Diabetes mellitus, transient neonatal, 3,
Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Hyperinsulinemic hypoglycemia, familial, 2,
Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus,
Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13Maturity-onset diabetes of the young type 13,
Monogenic diabetes, not specified, Maturity onset diabetes mellitus in young,
...see more		Uncertain significance
(Feb 17, 2023)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:17408600
GRCh38:
Chr11:17387053
KCNJ11R347C, R260Cnot providedUncertain significance
(Sep 23, 2022)		criteria provided, single submitter
79.
GRCh37:
Chr11:17408602
GRCh38:
Chr11:17387055
KCNJ11A259V, A346Vnot providedUncertain significance
(Jun 27, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr11:17408604
GRCh38:
Chr11:17387057
KCNJ11not providedLikely benign
(May 8, 2021)		criteria provided, single submitter
81.
GRCh37:
Chr11:17408605
GRCh38:
Chr11:17387058
KCNJ11T345M, T258MHyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
82.
GRCh37:
Chr11:17408619
GRCh38:
Chr11:17387072
KCNJ11not providedLikely benign
(Sep 9, 2022)		criteria provided, single submitter
83.
GRCh37:
Chr11:17408620
GRCh38:
Chr11:17387073
KCNJ11P253H, P340Hnot providedUncertain significance
(Dec 8, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr11:17408622
GRCh38:
Chr11:17387075
KCNJ11Maturity onset diabetes mellitus in young, not providedConflicting interpretations of pathogenicity
(Sep 29, 2021)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr11:17408622
GRCh38:
Chr11:17387075
KCNJ11not provided, not specifiedConflicting interpretations of pathogenicity
(Sep 26, 2023)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr11:17408623
GRCh38:
Chr11:17387076
KCNJ11V339G, V252GKCNJ11-related condition, Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia, familial, 2,
Type II diabetes mellitus, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3,
Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 2, Permanent neonatal diabetes mellitus,
Diabetes mellitus, transient neonatal, 3		Uncertain significance
(Oct 4, 2023)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr11:17408630-17408631
GRCh38:
Chr11:17387083-17387084
KCNJ11V250I, V337Inot providedLikely benign
(Mar 9, 2021)		criteria provided, single submitter
88.
GRCh37:
Chr11:17408630
GRCh38:
Chr11:17387083
KCNJ11V337I, V250IDiabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13, not specified,
not provided, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3
Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr11:17408631
GRCh38:
Chr11:17387084
KCNJ11not providedLikely benign
(Mar 3, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr11:17408634
GRCh38:
Chr11:17387087
KCNJ11N248K, N335KMaturity onset diabetes mellitus in youngUncertain significancecriteria provided, single submitter
91.
GRCh37:
Chr11:17408638
GRCh38:
Chr11:17387091
KCNJ11G247V, G334VNeonatal diabetes mellitusLikely pathogeniccriteria provided, single submitter
92.
GRCh37:
Chr11:17408638
GRCh38:
Chr11:17387091
KCNJ11G334D, G247DTransitory neonatal diabetes mellitusBenigncriteria provided, single submitter
93.
GRCh37:
Chr11:17408642
GRCh38:
Chr11:17387095
KCNJ11F333I, F246INeonatal hypoglycemiaBenigncriteria provided, single submitter
94.
GRCh37:
Chr11:17408647
GRCh38:
Chr11:17387100
KCNJ11S244C, S331Cnot provided, not specified, Maturity-onset diabetes of the young type 13
Uncertain significance
(Mar 26, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr11:17408649
GRCh38:
Chr11:17387102
KCNJ11not providedLikely benign
(Jun 9, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr11:17408650
GRCh38:
Chr11:17387103
KCNJ11Y330F, Y243Fnot providedUncertain significance
(Mar 14, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr11:17408650
GRCh38:
Chr11:17387103
KCNJ11Y330C, Y243CType II diabetes mellitus, Neonatal insulin-dependent diabetes mellitusPathogenic/Likely pathogenic
(Feb 8, 2013)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr11:17408651
GRCh38:
Chr11:17387104
KCNJ11Y330H, Y243HDiabetes mellitus, Maturity onset diabetes mellitus in youngConflicting interpretations of pathogenicity
(Feb 8, 2013)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr11:17408659
GRCh38:
Chr11:17387112
KCNJ11S327Y, S240Ynot specified, Maturity onset diabetes mellitus in young, not provided
Uncertain significance
(Jul 11, 2017)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr11:17408661
GRCh38:
Chr11:17387114
KCNJ11not providedLikely benign
(Aug 19, 2022)		criteria provided, single submitter
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