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Items: 61

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
INSPermanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
2.
INSPermanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
3.
INSPermanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
4.
GRCh37:
Chr11:2181023
GRCh38:
Chr11:2159793
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
5.
GRCh37:
Chr11:2181072-2182746
GRCh38:
Chr11:2159842-2161516
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
6.
GRCh37:
Chr11:2181073
GRCh38:
Chr11:2159843
INS, INS-IGF2not specifiedGMAF:0.12680(A)Benigncriteria provided, single submitter
7.
GRCh37:
Chr11:2181092
GRCh38:
Chr11:2159862
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
8.
GRCh37:
Chr11:2181107
GRCh38:
Chr11:2159877
INS, INS-IGF2Permanent neonatal diabetes mellitusnot providedno assertion provided
9.
GRCh37:
Chr11:2181113
GRCh38:
Chr11:2159883
INS, INS-IGF2Permanent neonatal diabetes mellitusnot providedno assertion provided
10.
GRCh37:
Chr11:2181128
GRCh38:
Chr11:2159898
INS, INS-IGF2Permanent neonatal diabetes mellitusnot providedno assertion provided
11.
GRCh37:
Chr11:2181128
GRCh38:
Chr11:2159898
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
12.
GRCh37:
Chr11:2181141
GRCh38:
Chr11:2159911
INS, INS-IGF2HyperproinsulinemiaPathogenic
(Dec 1, 1986)
no assertion criteria provided
13.
GRCh37:
Chr11:2181147
GRCh38:
Chr11:2159917
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
14.
GRCh37:
Chr11:2181149
GRCh38:
Chr11:2159919
INS, INS-IGF2HyperproinsulinemiaPathogenic
(May 1, 1997)
no assertion criteria provided
15.
GRCh37:
Chr11:2181149
GRCh38:
Chr11:2159919
INS, INS-IGF2HyperproinsulinemiaPathogenic
(Jun 1, 1992)
no assertion criteria provided
16.
GRCh37:
Chr11:2181149
GRCh38:
Chr11:2159919
INS, INS-IGF2HyperproinsulinemiaPathogenic
(Jun 1, 1998)
no assertion criteria provided
17.
GRCh37:
Chr11:2181150
GRCh38:
Chr11:2159920
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Mar 4, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr11:2181165
GRCh38:
Chr11:2159935
INS, INS-IGF2Permanent neonatal diabetes mellitusnot providedno assertion provided
19.
GRCh37:
Chr11:2181213
GRCh38:
Chr11:2159983
INS, INS-IGF2not providedLikely benignno assertion criteria provided
20.
GRCh37:
Chr11:2181237
GRCh38:
Chr11:2160007
INS, INS-IGF2not providedGO-ESP:0.00256(T)
GMAF:0.00340(T)
Uncertain significance
(Oct 17, 2013)
criteria provided, single submitter
21.
GRCh37:
Chr11:2181243
GRCh38:
Chr11:2160013
INS, INS-IGF2Neonatal diabetes mellitus, not specifiedGO-ESP:0.00512(A)
GMAF:0.00820(A)
Benign
(Aug 18, 2011)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:2181258
GRCh38:
Chr11:2160028
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jun 30, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr11:2181774
GRCh38:
Chr11:2160544
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Nov 14, 2016)
no assertion criteria provided
24.
GRCh37:
Chr11:2182004
GRCh38:
Chr11:2160774
INS, INS-IGF2not specifiedGMAF:0.06610(A)Benigncriteria provided, single submitter
25.
GRCh37:
Chr11:2182039
GRCh38:
Chr11:2160809
INS, INS-IGF2Diabetes mellitus, insulin-dependent, 2Pathogenic
(Apr 1, 2008)
no assertion criteria provided
26.
GRCh37:
Chr11:2182055
GRCh38:
Chr11:2160825
INS, INS-IGF2HyperproinsulinemiaPathogenic
(Apr 7, 1983)
no assertion criteria provided
27.
GRCh37:
Chr11:2182059
GRCh38:
Chr11:2160829
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
28.
GRCh37:
Chr11:2182059
GRCh38:
Chr11:2160829
INS, INS-IGF2HyperproinsulinemiaPathogenic
(Jan 15, 1993)
no assertion criteria provided
29.
GRCh37:
Chr11:2182062
GRCh38:
Chr11:2160832
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
30.
GRCh37:
Chr11:2182065
GRCh38:
Chr11:2160835
INS, INS-IGF2Maturity-onset diabetes of the young, type 10Pathogenic
(Apr 1, 2008)
no assertion criteria provided
31.
GRCh37:
Chr11:2182075
GRCh38:
Chr11:2160845
INS, INS-IGF2Permanent neonatal diabetes mellitus, Neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
32.
GRCh37:
Chr11:2182077
GRCh38:
Chr11:2160847
INS, INS-IGF2Maturity-onset diabetes of the young, type 10Likely pathogenicno assertion criteria provided
33.
GRCh37:
Chr11:2182098
GRCh38:
Chr11:2160868
INS, INS-IGF2Permanent neonatal diabetes mellitusnot providedno assertion provided
34.
GRCh37:
Chr11:2182102
GRCh38:
Chr11:2160872
INS, INS-IGF2HyperproinsulinemiaPathogenic
(Dec 1, 1988)
no assertion criteria provided
35.
GRCh37:
Chr11:2182108
GRCh38:
Chr11:2160878
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
36.
GRCh37:
Chr11:2182108
GRCh38:
Chr11:2160878
INS, INS-IGF2Permanent neonatal diabetes mellitus, Diabetes mellitus, insulin-dependent, 2, Neonatal diabetes mellitus
Pathogenic
(Nov 4, 2013)
criteria provided, single submitter
37.
GRCh37:
Chr11:2182117
GRCh38:
Chr11:2160887
INS, INS-IGF2Permanent neonatal diabetes mellitusnot providedno assertion provided
38.
GRCh37:
Chr11:2182131
GRCh38:
Chr11:2160901
INS, INS-IGF2Neonatal diabetes mellitusLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
39.
GRCh37:
Chr11:2182131
GRCh38:
Chr11:2160901
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
40.
GRCh37:
Chr11:2182139
GRCh38:
Chr11:2160909
INS, INS-IGF2not specifiedGMAF:0.00580(C)Benigncriteria provided, single submitter
41.
GRCh37:
Chr11:2182185
GRCh38:
Chr11:2160955
INS, INS-IGF2Maturity-onset diabetes of the young, type 10GO-ESP:0.00015(T)not providedno assertion provided
42.
GRCh37:
Chr11:2182186
GRCh38:
Chr11:2160956
INS, INS-IGF2Maturity-onset diabetes of the young, type 10Pathogenic
(Apr 1, 2008)
no assertion criteria provided
43.
GRCh37:
Chr11:2182199
GRCh38:
Chr11:2160969
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
44.
GRCh37:
Chr11:2182199
GRCh38:
Chr11:2160969
INS, INS-IGF2Permanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
45.
GRCh37:
Chr11:2182210
GRCh38:
Chr11:2160980
INS, INS-IGF2Neonatal diabetes mellitus, not specifiedGO-ESP:0.00825(A)
GMAF:0.00580(A)
Benign
(Aug 18, 2011)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:2182598
GRCh38:
Chr11:2161368
INSPermanent neonatal diabetes mellitusPathogenic
(Jul 5, 2011)
no assertion criteria provided
47.
GRCh37:
Chr11:2181002-2182229
INS, INS-IGF2See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr11:2128173-2586899
GRCh38:
Chr11:2106943-2565669
See casesUncertain significance
(Sep 9, 2013)
no assertion criteria provided
49.
GRCh37:
Chr11:196855-5343104
GRCh38:
Chr11:196855-5321874
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
50.
GRCh37:
Chr11:1126807-3235153
GRCh38:
Chr11:1132899-3213923
See casesPathogenic
(Aug 19, 2010)
no assertion criteria provided
51.
GRCh37:
Chr11:61793-10749516
GRCh38:
Chr11:61793-10727969
ADM, AP2A2, AMPD3, APBB1, RHOG, ART1, ASCL2, CARS, CCKBR, CD81, CD151, CDKN1C, TPP1, CNGA4, CTSD, DRD4, DUSP8, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IGF2, ILK, INS, IRF7, KCNQ1, LMO1, LSP1, MUC2, MUC5AC, MUC6, NAP1L4, NUP98, SLC22A18, SLC22A18AS, POLR2L, PSMD13, RNH1, MRPL23, RPL27A, RPLP2, RRM1, SCT, SMPD1, TRIM21, ST5, STIM1, TAF10, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, TUB, WEE1, ZNF143, ZNF195, ZNF214, ZNF215, RASSF7, PPFIBP2, IFITM1, OR6A2, DCHS1, EIF3F, BRSK2, TRIM66, TSPAN32, TSSC4, MRVI1, TRIM22, IFITM3, DEAF1, IPO7, IFITM2, TRIM3, LYVE1, KCNQ1OT1, PKP3, SWAP70, DENND5A, RRP8, SIRT3, OR52A1, ARFIP2, OR10A3, TIMM10B, RBMXL2, PGAP2, C11orf21, TRPM5, UBQLN3, RNF141, IGF2-AS, BET1L, CEND1, CYB5R2, TRIM34, CDHR5, TOLLIP, TRIM68, PIDD1, KCNQ1DN, MMP26, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, CHRNA10, PNPLA2, PHRF1, SCUBE2, SIGIRR, RIC8A, MRPL17, EPS8L2, STK33, CHID1, OR51G1, OR51B4, OR51B2, OR52N1, RIC3, SLC25A22, PGGHG, OR51G2, OR51E2, PTDSS2, MOB2, SBF2, FAM160A2, TRIM5, SYT8, PRKCDBP, ODF3, OSBPL5, LRRC56, MRGPRE, ART5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, OR52M1, OR52K2, OR5P2, OR5P3, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, OR52B4, C11orf40, OR52I2, OR51E1, UBQLNL, LOC143666, OR10A5, OR2AG1, DNHD1, SCGB1C1, C11orf42, NLRP6, LOC171391, OR56B4, TOLLIP-AS1, OR52B2, LMNTD2, OR51F1, OR51B5, SBF2-AS1, OR51V1, H19, CRACR2B, TMEM80, OR10A4, OLFML1, LOC283299, MRGPRG-AS1, NLRP10, NLRP14, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, OR52L1, OR2AG2, OR52B6, OR10A2, OVCH2, PDDC1, MRGPRG, KRTAP5-1, KRTAP5-3, LCRB, IFITM5, FAM99A, OR56B1, GVINP1, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LOC440028, TMEM9B-AS1, MIR483, SNORA3A, SNORA52, LOC644656, TSSC2, SNORA23, SNORA3B, SNORA54, INS-IGF2, MUC5B, MIR675, MRVI1-AS1, CAND1.11, FAM99B, LINC01001, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR4298, MTRNR2L8, LOC100506082, MIR210HG, LOC100506258, MIR4686, MIR4485, MIR4687, MIR5691, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, LOC101928008, MIR6743, MIR7847, MIR6744, PRR33, LOC102724784, HOTS, BGLT3, CASC23, LINC01219, SNORD131
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
52.
GRCh37:
Chr11:2170582-2488772
GRCh38:
Chr11:2149352-2467542
See casesUncertain significance
(Feb 8, 2011)
no assertion criteria provided
53.
GRCh37:
Chr11:1996741-3645369
GRCh38:
Chr11:1975511-3624139
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
54.
GRCh37:
Chr11:1558609-3381999
GRCh38:
Chr11:1537379-3360769
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
55.
GRCh37:
Chr11:1996741-2909925
GRCh38:
Chr11:1975511-2888695
See casesPathogenic
(Jun 10, 2010)
no assertion criteria provided
56.
GRCh37:
Chr11:446754-18926289
GRCh38:
Chr11:446754-18904742
ADM, AP2A2, AMPD3, APBB1, RHOG, ARNTL, ART1, ASCL2, CALCA, CALCB, CARS, CCKBR, CD81, CD151, CDKN1C, TPP1, CNGA4, COPB1, CTSD, DRD4, DUSP8, EIF4G2, GTF2H1, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IGF2, ILK, INS, IRF7, KCNC1, KCNJ11, KCNQ1, LDHA, LDHC, LMO1, LSP1, MUC2, MUC5AC, MUC6, MYOD1, NAP1L4, NUCB2, NUP98, SLC22A18, SLC22A18AS, PDE3B, PIK3C2A, POLR2L, PSMA1, PTH, RNH1, MRPL23, RPL27A, RPLP2, RPS13, RRM1, SAA1, SAA2, SAA4, SCT, SMPD1, TRIM21, ST5, STIM1, ABCC8, TAF10, TALDO1, TEAD1, TH, TSPAN4, TNNI2, TNNT3, TPH1, TSG101, PHLDA2, TUB, WEE1, ZNF143, ZNF195, ZNF214, ZNF215, RASSF7, PPFIBP2, OR6A2, DCHS1, EIF3F, BRSK2, MICAL2, CTR9, TRIM66, TSPAN32, TSSC4, USH1C, MRVI1, TRIM22, SPON1, DEAF1, IPO7, TRIM3, LYVE1, C11orf58, KCNQ1OT1, HPS5, RRAS2, SWAP70, DENND5A, RRP8, OR52A1, ARFIP2, SERGEF, OR10A3, TIMM10B, SNORD14A, DKK3, RBMXL2, PGAP2, C11orf21, TRPM5, UBQLN3, RNF141, IGF2-AS, CEND1, CYB5R2, TRIM34, CDHR5, TOLLIP, USP47, TRIM68, UEVLD, PIDD1, KCNQ1DN, SOX6, PARVA, MMP26, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, CHRNA10, PNPLA2, PHRF1, SCUBE2, ZBED5, MRPL17, EPS8L2, STK33, CHID1, OR51G1, OR51B4, OR51B2, OR52N1, RIC3, SLC25A22, OR51G2, OR51E2, PTDSS2, MOB2, SBF2, FAM160A2, FAR1, BTBD10, PTPN5, MICALCL, TRIM5, SNORD14B, SYT8, PRKCDBP, SAAL1, OSBPL5, LRRC56, MRGPRE, ART5, MRGPRX3, MRGPRX4, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, OR52M1, OR52K2, OR5P2, OR5P3, CYP2R1, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, OR52B4, C11orf40, OR52I2, OR51E1, UBQLNL, LOC143666, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, LDHAL6A, C11orf42, LOC171391, OR56B4, TOLLIP-AS1, OR52B2, LMNTD2, OR51F1, OR51B5, SBF2-AS1, CSNK2A3, OR51V1, H19, CRACR2B, TMEM80, IGSF22, OR10A4, OLFML1, LOC283299, MRGPRG-AS1, NLRP10, NLRP14, KRTAP5-AS1, KCNQ1-AS1, OR52L1, OR2AG2, OR52B6, OTOG, OR10A2, OVCH2, PDDC1, GALNT18, NCR3LG1, MRGPRG, KRTAP5-1, KRTAP5-3, LCRB, FAM99A, OR56B1, GVINP1, INSC, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LOC440028, TMEM9B-AS1, MIR483, SNORA3A, SNORA52, LOC644656, RASSF10, TSSC2, SNORA23, SNORA3B, SNORA54, SNORD97, INS-IGF2, MUC5B, ZBED5-AS1, MIR675, MRVI1-AS1, CAND1.11, FAM99B, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR3159, MIR4298, MIR4299, MTRNR2L8, LOC100506082, MIR210HG, LOC100506258, LINC00958, SPTY2D1-AS1, SAA2-SAA4, MIR4686, MIR4485, MIR4687, MIR5691, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, LOC101928008, LOC101928053, LOC101928132, MIR6073, MIR8070, MIR7847, MIR6744, MIR6124, LOC102723330, PRR33, LOC102724784, LOC102724957, HOTS, BGLT3, CASC23, LINC01219, LOC105376554, LOC105376575, SNORD131
See casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
57.
GRCh37:
Chr11:218365-3398307
GRCh38:
Chr11:218365-3377077
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
58.
GRCh37:
Chr11:202758-31747772
GRCh38:
Chr11:202758-31726224
ADM, AP2A2, AMPD3, APBB1, RHOG, ARNTL, ART1, ASCL2, BDNF, MPPED2, CALCA, CALCB, CARS, CCKBR, CD81, CD151, CDKN1C, TPP1, CNGA4, COPB1, CTSD, DRD4, DUSP8, EIF4G2, FANCF, FSHB, GAS2, GTF2H1, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, HSP90AA2P, IGF2, ILK, INS, IRF7, KCNA4, KCNC1, KCNJ11, KCNQ1, LDHA, LDHC, LMO1, LSP1, MUC2, MUC5AC, MUC6, MYOD1, NAP1L4, NELL1, NUCB2, NUP98, SLC22A18, SLC22A18AS, PDE3B, PIK3C2A, POLR2L, PSMA1, PSMD13, PTH, RNH1, MRPL23, RPL27A, RPLP2, RPS13, RRM1, SAA1, SAA2, SAA4, SCT, SMPD1, TRIM21, ST5, STIM1, ABCC8, TAF10, TALDO1, TEAD1, TH, TSPAN4, TNNI2, TNNT3, TPH1, TSG101, PHLDA2, TUB, WEE1, ZNF143, ZNF195, ZNF214, ZNF215, RASSF7, CSRP3, BBOX1, PPFIBP2, IFITM1, OR6A2, DCHS1, EIF3F, BRSK2, SLC6A5, MICAL2, CTR9, TRIM66, TSPAN32, TSSC4, USH1C, PRMT3, MRVI1, TRIM22, IFITM3, SPON1, DEAF1, IPO7, HTATIP2, IFITM2, TRIM3, LYVE1, C11orf58, KCNQ1OT1, PKP3, HPS5, RRAS2, SWAP70, DENND5A, RRP8, SIRT3, OR52A1, ARFIP2, SERGEF, OR10A3, TIMM10B, ELP4, SNORD14A, DKK3, RBMXL2, PGAP2, C11orf21, TRPM5, UBQLN3, RNF141, IGF2-AS, BET1L, CEND1, CYB5R2, TRIM34, CDHR5, TOLLIP, ZDHHC13, USP47, TRIM68, UEVLD, LIN7C, LGR4, PIDD1, KCNQ1DN, SOX6, PARVA, MMP26, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, CHRNA10, SLC17A6, PNPLA2, PHRF1, SCUBE2, ZBED5, SIGIRR, RIC8A, MRPL17, ANO3, EPS8L2, STK33, CHID1, OR51G1, OR51B4, OR51B2, OR52N1, RIC3, E2F8, SLC25A22, PGGHG, OR51G2, OR51E2, PTDSS2, MOB2, SBF2, KIF18A, FAM160A2, FAR1, BTBD10, PTPN5, MICALCL, TRIM5, SNORD14B, NAV2, SYT8, CCDC34, PRKCDBP, SAAL1, OSBPL5, LRRC56, MRGPRE, ART5, MRGPRX2, MRGPRX3, MRGPRX4, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, OR52M1, OR52K2, OR5P2, OR5P3, CYP2R1, DBX1, DNAJC24, ARL14EP, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, OR52B4, C11orf40, OR52I2, OR51E1, UBQLNL, MUC15, LOC143666, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, SLC5A12, LDHAL6A, C11orf42, NLRP6, LOC171391, METTL15, IMMP1L, OR56B4, ANO5, TOLLIP-AS1, OR52B2, LMNTD2, OR51F1, SVIP, MRGPRX1, OR51B5, SBF2-AS1, CSNK2A3, OR51V1, H19, CRACR2B, TMEM80, IGSF22, OR10A4, OLFML1, LOC283299, MRGPRG-AS1, NLRP10, NLRP14, ANO9, LUZP2, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, OR10A2, OVCH2, PDDC1, GALNT18, NCR3LG1, MRGPRG, KRTAP5-1, KRTAP5-3, LCRB, IFITM5, FAM99A, OR56B1, GVINP1, INSC, FIBIN, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, NAV2-AS4, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LOC440028, TMEM9B-AS1, BDNF-AS, MIR483, SNORA3A, SNORA52, LOC644656, RASSF10, TSSC2, SNORA23, SNORA3B, SNORA54, SNORD97, MIR610, INS-IGF2, MUC5B, ZBED5-AS1, MIR675, LOC100126784, MRVI1-AS1, CAND1.11, FAM99B, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR3159, MIR4298, MIR4299, MTRNR2L8, CCDC179, LOC100506082, MIR210HG, LOC100506258, LINC00958, SPTY2D1-AS1, DCDC5, SAA2-SAA4, MIR4486, MIR4686, MIR4485, MIR4694, MIR4687, MIR5691, NAV2-AS5, NAV2-AS2, LINC00678, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, LOC101928008, LOC101928053, LOC101928132, MIR6073, MIR6743, MIR8054, MIR8070, MIR8087, MIR7847, MIR6744, MIR8068, MIR6124, LOC102723330, LINC01495, PRR33, LOC102724784, LOC102724957, HOTS, BGLT3, CASC23, BBOX1-AS1, LINC01219, LOC105376554, LOC105376575, LOC105376599, LOC105376671, LINC01616, SNORD131
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
59.
GRCh37:
Chr11:196966-3645369
GRCh38:
Chr11:196966-3624139
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
60.
GRCh37:
Chr11:196966-3398307
GRCh38:
Chr11:196966-3377077
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
61.
GRCh37:
Chr11:196966-4456574
GRCh38:
Chr11:196966-4435344
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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