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Items: 1 to 100 of 1892

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:
Chr11:17409531
GRCh38:
Chr11:17387984
ABCC8, KCNJ11Transient Neonatal Diabetes, Dominant, Permanent neonatal diabetes mellitus, not specified,
Inborn genetic diseases, Maturity onset diabetes mellitus in young, not provided,
Diabetes mellitus, transient neonatal, 3, Hyperinsulinism, Dominant/Recessive, Maturity-onset diabetes of the young type 13,
Hyperinsulinemic hypoglycemia, familial, 2		Conflicting interpretations of pathogenicity
(Oct 23, 2022)		criteria provided, conflicting interpretations
3.
GRCh37:
Chr11:17409572
GRCh38:
Chr11:17388025
ABCC8, KCNJ11K23ETransient Neonatal Diabetes, Dominant, Hyperinsulinism, Dominant/Recessive, Maturity-onset diabetes of the young type 13,
not provided, not specified, Maturity onset diabetes mellitus in young,
Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Permanent neonatal diabetes mellitus,
Type II diabetes mellitus		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr11:17409792
GRCh38:
Chr11:17388245
ABCC8, KCNJ11Hyperinsulinism, Dominant/Recessive, Hyperinsulinemic hypoglycemia, familial, 2, Transient Neonatal Diabetes, Dominant,
Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13,
Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
5.
GRCh37:
Chr11:17410136
GRCh38:
Chr11:17388589
ABCC8, KCNJ11Hyperinsulinism, Dominant/Recessive, Hyperinsulinemic hypoglycemia, familial, 2, Transient Neonatal Diabetes, Dominant,
not specified, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13, Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Mar 2, 2020)		criteria provided, conflicting interpretations
6.
GRCh37:
Chr11:17410197
GRCh38:
Chr11:17388650
ABCC8, KCNJ11Hyperinsulinism, Dominant/Recessive, not specified, Hyperinsulinemic hypoglycemia, familial, 2,
Transient Neonatal Diabetes, Dominant, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3,
Maturity-onset diabetes of the young type 13, Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
7.
GRCh37:
Chr11:17414420
GRCh38:
Chr11:17392873
ABCC8Transient Neonatal Diabetes, Dominant, Hyperinsulinism, Dominant/Recessive, Transitory neonatal diabetes mellitus,
Maturity onset diabetes mellitus in young, Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Jun 14, 2016)		criteria provided, conflicting interpretations
8.
GRCh37:
Chr11:17414445
GRCh38:
Chr11:17392898
ABCC8Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1, Transitory neonatal diabetes mellitus,
Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:17414531
GRCh38:
Chr11:17392984
ABCC8not specifiedUncertain significance
(Nov 10, 2020)		criteria provided, single submitter
10.
GRCh37:
Chr11:17414551
GRCh38:
Chr11:17393004
ABCC8R1578H, R1579H, R1577H, R1600HTransitory neonatal diabetes mellitus, not specified, Maturity onset diabetes mellitus in young,
not provided		Conflicting interpretations of pathogenicity
(Apr 12, 2021)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr11:17414555
GRCh38:
Chr11:17393008
ABCC8V1576I, V1577I, V1599I, V1578Inot providedUncertain significance
(Aug 22, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr11:17414556
GRCh38:
Chr11:17393009
ABCC8, KCNJ11Inborn genetic diseases, Maturity onset diabetes mellitus in young, not provided,
Diabetes mellitus, transient neonatal, 2, Transient Neonatal Diabetes, Dominant, Hyperinsulinism, Dominant/Recessive,
Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1, not specified
Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
13.
GRCh37:
Chr11:17414562
GRCh38:
Chr11:17393015
ABCC8not providedLikely benign
(Oct 31, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr11:17414562
GRCh38:
Chr11:17393015
ABCC8not providedLikely benign
(Jan 31, 2021)		criteria provided, single submitter
15.
GRCh37:
Chr11:17414564
GRCh38:
Chr11:17393017
ABCC8A1596T, A1574T, A1575T, A1573Tnot providedUncertain significance
(Sep 1, 2021)		criteria provided, single submitter
16.
GRCh37:
Chr11:17414565
GRCh38:
Chr11:17393018
ABCC8not providedLikely benign
(Oct 31, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr11:17414570
GRCh38:
Chr11:17393023
ABCC8, KCNJ11V1572I, V1573I, V1594I, V1571IDiabetes mellitus, permanent neonatal 3, Transient Neonatal Diabetes, Dominant, Hyperinsulinism, Dominant/Recessive,
not specified, Maturity onset diabetes mellitus in young, not provided,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2,
Permanent neonatal diabetes mellitus, Neonatal hypoglycemia ...see more		Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr11:17414571
GRCh38:
Chr11:17393024
ABCC8Maturity onset diabetes mellitus in young, Transitory neonatal diabetes mellitus, not provided
Conflicting interpretations of pathogenicity
(Aug 12, 2022)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr11:17414577
GRCh38:
Chr11:17393030
ABCC8not providedLikely benign
(Mar 20, 2019)		criteria provided, single submitter
20.
GRCh37:
Chr11:17414581
GRCh38:
Chr11:17393034
ABCC8R1567Q, R1569Q, R1568Q, R1590QMaturity onset diabetes mellitus in young, Transitory neonatal diabetes mellitus, not provided
Conflicting interpretations of pathogenicity
(Oct 21, 2022)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr11:17414594
GRCh38:
Chr11:17393047
ABCC8K1564E, K1565E, K1586E, K1563EHyperinsulinemic hypoglycemia, familial, 1, Permanent neonatal diabetes mellitus, not provided,
Diabetes mellitus, transient neonatal, 2		Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr11:17414598
GRCh38:
Chr11:17393051
ABCC8not providedLikely benign
(May 4, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr11:17414599
GRCh38:
Chr11:17393052
ABCC8P1562fs, P1563fs, P1561fs, P1584fsHyperinsulinemic hypoglycemia, familial, 1, Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young
Conflicting interpretations of pathogenicity
(Mar 24, 2017)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr11:17414607
GRCh38:
Chr11:17393060
ABCC8Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:17414610
GRCh38:
Chr11:17393063
ABCC8E1557D, E1558D, E1559D, E1580Dnot providedUncertain significance
(Mar 23, 2020)		criteria provided, single submitter
26.
GRCh37:
Chr11:17414610
GRCh38:
Chr11:17393063
ABCC8not providedLikely benign
(Feb 2, 2020)		criteria provided, single submitter
27.
GRCh37:
Chr11:17414622
GRCh38:
Chr11:17393075
ABCC8not providedLikely benign
(Dec 12, 2021)		criteria provided, single submitter
28.
GRCh37:
Chr11:17414625
GRCh38:
Chr11:17393078
ABCC8not providedLikely benign
(Oct 13, 2020)		criteria provided, single submitter
29.
GRCh37:
Chr11:17414627
GRCh38:
Chr11:17393080
ABCC8R1552W, R1553W, R1554W, R1575Wnot providedUncertain significance
(Jul 19, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr11:17414628
GRCh38:
Chr11:17393081
ABCC8Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Inborn genetic diseases,
not provided, not specified		Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr11:17414631
GRCh38:
Chr11:17393084
ABCC8not providedLikely benign
(May 14, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr11:17414631
GRCh38:
Chr11:17393084
ABCC8Maturity onset diabetes mellitus in young, not provided, Transitory neonatal diabetes mellitus
Conflicting interpretations of pathogenicity
(Aug 25, 2021)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr11:17414634
GRCh38:
Chr11:17393087
ABCC8not providedLikely benign
(May 14, 2022)		criteria provided, single submitter
34.
GRCh37:
Chr11:17414635
GRCh38:
Chr11:17393088
ABCC8V1549D, V1550D, V1551D, V1572DHyperinsulinemic hypoglycemia, familial, 1Uncertain significance
(Aug 16, 2023)		criteria provided, single submitter
35.
GRCh37:
Chr11:17414637
GRCh38:
Chr11:17393090
ABCC8Inborn genetic diseases, Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1,
Transitory neonatal diabetes mellitus, Permanent neonatal diabetes mellitus, not provided,
Diabetes mellitus, transient neonatal, 2		Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr11:17414656
GRCh38:
Chr11:17393109
ABCC8L1543P, L1544P, L1565P, L1542PDiabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Type II diabetes mellitus, Diabetes mellitus, transient neonatal, 2, ABCC8-related condition,
not provided, Hyperinsulinemic hypoglycemia, familial, 1		Pathogenic/Likely pathogenic
(Aug 16, 2023)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr11:17414664
GRCh38:
Chr11:17393117
ABCC8not providedLikely benign
(Aug 6, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr11:17414669
GRCh38:
Chr11:17393122
ABCC8V1539M, V1540M, V1561M, V1538MTransitory neonatal diabetes mellitus, not specified, Maturity onset diabetes mellitus in young,
not provided, Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(May 4, 2023)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr11:17414670
GRCh38:
Chr11:17393123
ABCC8not providedLikely benign
(Aug 3, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr11:17414671
GRCh38:
Chr11:17393124
ABCC8R1538Q, R1539Q, R1560Q, R1537QMaturity onset diabetes mellitus in young, ABCC8-related condition, not provided,
Transitory neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Aug 9, 2023)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr11:17414672
GRCh38:
Chr11:17393125
ABCC8R1537G, R1538G, R1539G, R1560GMaturity onset diabetes mellitus in young, Transitory neonatal diabetes mellitusUncertain significancecriteria provided, single submitter
42.
GRCh37:
Chr11:17414672
GRCh38:
Chr11:17393125
ABCC8R1538*, R1539*, R1537*, R1560*not provided, Hyperinsulinemic hypoglycemia, familial, 1Pathogenic/Likely pathogenic
(Nov 11, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr11:17414674
GRCh38:
Chr11:17393127
ABCC8H1536R, H1537R, H1538R, H1559RNeonatal diabetes mellitusLikely pathogeniccriteria provided, single submitter
44.
GRCh37:
Chr11:17414685
GRCh38:
Chr11:17393138
ABCC8not providedLikely benign
(Feb 8, 2019)		criteria provided, single submitter
45.
GRCh37:
Chr11:17414691
GRCh38:
Chr11:17393144
ABCC8not providedLikely benign
(Oct 7, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr11:17414715
GRCh38:
Chr11:17393168
ABCC8Maturity onset diabetes mellitus in young, Diabetes mellitus, permanent neonatal 3, Transitory neonatal diabetes mellitus,
not provided, Leucine-induced hypoglycemia, Hyperinsulinemic hypoglycemia, familial, 1,
Diabetes mellitus, transient neonatal, 2		Conflicting interpretations of pathogenicity
(Jul 1, 2021)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr11:17414757
GRCh38:
Chr11:17393210
ABCC8not providedBenign
(Aug 25, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr11:17414778
GRCh38:
Chr11:17393231
ABCC8not providedBenign
(Aug 17, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr11:17415057
GRCh38:
Chr11:17393510
ABCC8not providedLikely benign
(Aug 25, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr11:17415143
GRCh38:
Chr11:17393596
ABCC8not providedBenign
(Aug 9, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr11:17415190
GRCh38:
Chr11:17393643
ABCC8Diabetes mellitus, permanent neonatal 3, not provided, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr11:17415234
GRCh38:
Chr11:17393687
ABCC8Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, not provided
Conflicting interpretations of pathogenicity
(Sep 19, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr11:17415235
GRCh38:
Chr11:17393688
ABCC8not providedLikely benign
(Jan 26, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr11:17415235
GRCh38:
Chr11:17393688
ABCC8not providedLikely benign
(Jun 3, 2022)		criteria provided, single submitter
55.
GRCh37:
Chr11:17415243
GRCh38:
Chr11:17393696
ABCC8not providedPathogenic
(Apr 15, 2019)		criteria provided, single submitter
56.
GRCh37:
Chr11:17415244
GRCh38:
Chr11:17393697
ABCC8not provided, Hyperinsulinemic hypoglycemia, familial, 1Uncertain significance
(Feb 28, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:17415245
GRCh38:
Chr11:17393698
ABCC8A1536V, A1537V, A1558V, A1535VHyperinsulinemic hypoglycemia, familial, 1, not providedUncertain significance
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:17415246
GRCh38:
Chr11:17393699
ABCC8A1537P, A1536P, A1535P, A1558Pnot specifiedUncertain significance
(Jul 23, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr11:17415247
GRCh38:
Chr11:17393700
ABCC8Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1, Transitory neonatal diabetes mellitus,
Permanent neonatal diabetes mellitus, not provided, Diabetes mellitus, transient neonatal, 2
Conflicting interpretations of pathogenicity
(Oct 8, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr11:17415259
GRCh38:
Chr11:17393712
ABCC8not providedLikely benign
(Nov 2, 2020)		criteria provided, single submitter
61.
GRCh37:
Chr11:17415259
GRCh38:
Chr11:17393712
ABCC8not providedLikely benign
(Aug 26, 2021)		criteria provided, single submitter
62.
GRCh37:
Chr11:17415261
GRCh38:
Chr11:17393714
ABCC8T1530A, T1531A, T1532A, T1553Anot specifiedUncertain significance
(Jul 28, 2021)		criteria provided, single submitter
63.
GRCh37:
Chr11:17415261
GRCh38:
Chr11:17393714
ABCC8T1531P, T1532P, T1530P, T1553PDiabetes mellitus, transient neonatal, 2, not specified, Transitory neonatal diabetes mellitus,
Maturity onset diabetes mellitus in young		Conflicting interpretations of pathogenicity
(Jan 23, 2018)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr11:17415263
GRCh38:
Chr11:17393716
ABCC8R1529H, R1530H, R1531H, R1552HABCC8-related conditionUncertain significance
(Mar 21, 2023)		criteria provided, single submitter
65.
GRCh37:
Chr11:17415264
GRCh38:
Chr11:17393717
ABCC8R1529fs, R1531fs, R1552fs, R1530fsnot providedPathogenic
(Jun 13, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr11:17415264
GRCh38:
Chr11:17393717
ABCC8R1530C, R1531C, R1529C, R1552Cnot specified, not providedUncertain significance
(Jan 4, 2023)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:17415271
GRCh38:
Chr11:17393724
ABCC8Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, not provided
Conflicting interpretations of pathogenicity
(Aug 30, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr11:17415283
GRCh38:
Chr11:17393736
ABCC8not providedLikely benign
(Nov 5, 2021)		criteria provided, single submitter
69.
GRCh37:
Chr11:17415288
GRCh38:
Chr11:17393741
ABCC8V1522M, V1523M, V1521M, V1544MNeonatal diabetes mellitusLikely pathogenic
(Aug 18, 2011)		criteria provided, single submitter
70.
GRCh37:
Chr11:17415289
GRCh38:
Chr11:17393742
ABCC8K1521N, K1522N, K1520N, K1543NHyperinsulinemic hypoglycemia, familial, 1Uncertain significance
(Nov 9, 2017)		criteria provided, single submitter
71.
GRCh37:
Chr11:17415289
GRCh38:
Chr11:17393742
ABCC8K1521N, K1522N, K1520N, K1543NTransitory neonatal diabetes mellitus, Monogenic diabetes, Maturity onset diabetes mellitus in young,
not specified, not provided		Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr11:17415297
GRCh38:
Chr11:17393750
ABCC8L1518F, L1519F, L1520F, L1541Fnot providedUncertain significance
(Sep 12, 2019)		criteria provided, single submitter
73.
GRCh37:
Chr11:17415299
GRCh38:
Chr11:17393752
ABCC8I1518S, I1519S, I1517S, I1540SNeonatal diabetes mellitus, Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young
Conflicting interpretations of pathogenicity
(Aug 18, 2011)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr11:17415305
GRCh38:
Chr11:17393758
ABCC8E1515G, E1516G, E1517G, E1538Gnot providedLikely pathogenic
(Mar 14, 2019)		criteria provided, single submitter
75.
GRCh37:
Chr11:17415307
GRCh38:
Chr11:17393760
ABCC8not providedLikely pathogenic
(Aug 27, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr11:17415310
GRCh38:
Chr11:17393763
ABCC8Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, not provided
Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
77.
GRCh37:
Chr11:17415312
GRCh38:
Chr11:17393765
ABCC8not providedUncertain significance
(Apr 26, 2021)		criteria provided, single submitter
78.
GRCh37:
Chr11:17415314
GRCh38:
Chr11:17393767
ABCC8Maturity onset diabetes mellitus in young, Transitory neonatal diabetes mellitus, not provided
Conflicting interpretations of pathogenicity
(Nov 10, 2020)		criteria provided, conflicting interpretations
79.
GRCh37:
Chr11:17415324
GRCh38:
Chr11:17393777
ABCC8not providedLikely benign
(Nov 23, 2021)		criteria provided, single submitter
80.
GRCh37:
Chr11:17415622
GRCh38:
Chr11:17394075
ABCC8not providedLikely benign
(Dec 10, 2019)		criteria provided, single submitter
81.
GRCh37:
Chr11:17415794
GRCh38:
Chr11:17394247
ABCC8not providedLikely benign
(Mar 18, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr11:17415800
GRCh38:
Chr11:17394253
ABCC8not specified, Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young,
not provided		Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr11:17415804
GRCh38:
Chr11:17394257
ABCC8Hyperinsulinemic hypoglycemia, familial, 1, not provided, Diabetes mellitus, transient neonatal, 2,
Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Jun 25, 2022)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr11:17415809
GRCh38:
Chr11:17394262
ABCC8Maturity onset diabetes mellitus in young, Transitory neonatal diabetes mellitusUncertain significancecriteria provided, single submitter
85.
GRCh37:
Chr11:17415809
GRCh38:
Chr11:17394262
ABCC8Hereditary hyperinsulinismUncertain significance
(Apr 10, 2020)		no assertion criteria provided
86.
GRCh37:
Chr11:17415811
GRCh38:
Chr11:17394264
ABCC8Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1, Transitory neonatal diabetes mellitus
Conflicting interpretations of pathogenicity
(Jan 5, 2018)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr11:17415812
GRCh38:
Chr11:17394265
ABCC8not providedPathogenic
(Aug 25, 2021)		criteria provided, single submitter
88.
GRCh37:
Chr11:17415814
GRCh38:
Chr11:17394267
ABCC8T1514M, T1515M, T1516M, T1537Mnot provided, Type II diabetes mellitus, Diabetes mellitus
Pathogenic/Likely pathogenic
(Jan 21, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr11:17415816
GRCh38:
Chr11:17394269
ABCC8Inborn genetic diseases, not specified, Hyperinsulinemic hypoglycemia, familial, 1,
Diabetes mellitus, transient neonatal, 2, Permanent neonatal diabetes mellitus, Transitory neonatal diabetes mellitus,
Maturity onset diabetes mellitus in young, not provided		Conflicting interpretations of pathogenicity
(Aug 10, 2023)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr11:17415820
GRCh38:
Chr11:17394273
ABCC8M1512T, M1513T, M1514T, M1535TABCC8-related conditionLikely pathogenic
(Dec 19, 2022)		criteria provided, single submitter
91.
GRCh37:
Chr11:17415821-17415822
GRCh38:
Chr11:17394274-17394275
ABCC8Hyperinsulinemic hypoglycemia, familial, 1Likely pathogenic
(Apr 15, 2015)		criteria provided, single submitter
92.
GRCh37:
Chr11:17415825
GRCh38:
Chr11:17394278
ABCC8I1510M, I1511M, I1512M, I1533MABCC8-related conditionUncertain significance
(Feb 5, 2023)		criteria provided, single submitter
93.
GRCh37:
Chr11:17415825
GRCh38:
Chr11:17394278
ABCC8not providedLikely benign
(Apr 5, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr11:17415826
GRCh38:
Chr11:17394279
ABCC8I1510T, I1511T, I1512T, I1533Tnot providedPathogenic
(Dec 8, 2021)		criteria provided, single submitter
95.
GRCh37:
Chr11:17415826
GRCh38:
Chr11:17394279
ABCC8I1512N, I1533N, I1510N, I1511Nnot providedLikely pathogenic
(Nov 22, 2021)		criteria provided, single submitter
96.
GRCh37:
Chr11:17415831
GRCh38:
Chr11:17394284
ABCC8Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in youngUncertain significancecriteria provided, single submitter
97.
GRCh37:
Chr11:17415834
GRCh38:
Chr11:17394287
ABCC8Transitory neonatal diabetes mellitus, not specified, Inborn genetic diseases,
not provided, Maturity onset diabetes mellitus in young		Conflicting interpretations of pathogenicity
(Nov 14, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr11:17415837
GRCh38:
Chr11:17394290
ABCC8not providedLikely benign
(Mar 15, 2022)		criteria provided, single submitter
99.
GRCh37:
Chr11:17415840
GRCh38:
Chr11:17394293
ABCC8not providedLikely benign
(Sep 7, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr11:17415842
GRCh38:
Chr11:17394295
ABCC8E1506K, E1507K, E1505K, E1528Knot provided, Hyperinsulinemic hypoglycemia, familial, 1Pathogenic
(Jun 5, 2023)		criteria provided, multiple submitters, no conflicts
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