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Items: 71

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
LHCGRLeydig cell agenesisPathogenic
(Nov 1, 1998)
no assertion criteria provided
2.
LHCGRLeydig cell hypoplasia, partialPathogenic
(Jun 1, 2000)
no assertion criteria provided
3.
LHCGRLuteinizing hormone/choriogonadotropin receptor, lq variantPathogenic
(Apr 1, 2003)
no assertion criteria provided
4.
LHCGRLeydig cell agenesis, Luteinizing hormone resistance, femalePathogenic
(Mar 1, 1998)
no assertion criteria provided
5.
GRCh37:
Chr2:48914112
GRCh38:
Chr2:48686973
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr2:48914259
GRCh38:
Chr2:48687120
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00020(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr2:48914301
GRCh38:
Chr2:48687162
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00100(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr2:48914308
GRCh38:
Chr2:48687169
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.04150(G)Benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr2:48914453
GRCh38:
Chr2:48687314
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr2:48914476
GRCh38:
Chr2:48687337
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.04490(T)Benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr2:48914536
GRCh38:
Chr2:48687397
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr2:48914555
GRCh38:
Chr2:48687416
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00060(-)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr2:48914563
GRCh38:
Chr2:48687424
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr2:48914615
GRCh38:
Chr2:48687476
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.16270(G)Benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr2:48914688
GRCh38:
Chr2:48687549
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.08190(G)Benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr2:48914705
GRCh38:
Chr2:48687566
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00980(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr2:48914829
GRCh38:
Chr2:48687690
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00020(A)
GO-ESP:0.00029(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr2:48914934
GRCh38:
Chr2:48687795
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00020(G)
GO-ESP:0.00002(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr2:48915061
GRCh38:
Chr2:48687922
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00020(A)
GO-ESP:0.00004(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr2:48915062
GRCh38:
Chr2:48687923
LHCGR, STON1-GTF2A1LLeydig cell hypoplasia, partialGO-ESP:0.00001(T)Pathogenic
(Jun 1, 1998)
no assertion criteria provided
21.
GRCh37:
Chr2:48915089
GRCh38:
Chr2:48687950
LHCGR, STON1-GTF2A1LLeydig hypoplasia, type IGMAF:0.00020(T)
GO-ESP:0.00002(T)
Pathogenic
(Feb 22, 1996)
no assertion criteria provided
22.
GRCh37:
Chr2:48915159
GRCh38:
Chr2:48688020
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Luteinizing hormone resistance, femalePathogenic
(Nov 1, 1996)
no assertion criteria provided
23.
GRCh37:
Chr2:48915203
GRCh38:
Chr2:48688064
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityPathogenic
(Jul 1, 1998)
no assertion criteria provided
24.
GRCh37:
Chr2:48915204
GRCh38:
Chr2:48688065
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
25.
GRCh37:
Chr2:48915204
GRCh38:
Chr2:48688065
LHCGR, STON1-GTF2A1LLeydig cell adenoma, somatic, with male-limited precocious pubertyPathogenic
(Mar 1, 2002)
no assertion criteria provided
26.
GRCh37:
Chr2:48915206
GRCh38:
Chr2:48688067
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityPathogenic
(Feb 1, 1995)
no assertion criteria provided
27.
GRCh37:
Chr2:48915221
GRCh38:
Chr2:48688082
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityPathogenic
(Apr 1, 1995)
no assertion criteria provided
28.
GRCh37:
Chr2:48915223
GRCh38:
Chr2:48688084
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityPathogenic
(Feb 1, 1995)
no assertion criteria provided
29.
GRCh37:
Chr2:48915233
GRCh38:
Chr2:48688094
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityPathogenic
(Dec 1, 2000)
no assertion criteria provided
30.
GRCh37:
Chr2:48915245
GRCh38:
Chr2:48688106
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityPathogenic
(Jun 1, 2001)
no assertion criteria provided
31.
GRCh37:
Chr2:48915267
GRCh38:
Chr2:48688128
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00400(T)
GO-ESP:0.00171(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr2:48915276
GRCh38:
Chr2:48688137
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Luteinizing hormone resistance, femalePathogenic
(Feb 22, 1996)
no assertion criteria provided
33.
GRCh37:
Chr2:48915301
GRCh38:
Chr2:48688162
LHCGR, STON1-GTF2A1LLeydig cell agenesisGO-ESP:0.00001(T)Pathogenic
(Nov 1, 1998)
no assertion criteria provided
34.
GRCh37:
Chr2:48915309
GRCh38:
Chr2:48688170
LHCGR, STON1-GTF2A1LLeydig cell agenesisPathogenic
(Jun 1, 2002)
no assertion criteria provided
35.
GRCh37:
Chr2:48915312
GRCh38:
Chr2:48688173
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityPathogenic
(Mar 1, 1999)
no assertion criteria provided
36.
GRCh37:
Chr2:48915431
GRCh38:
Chr2:48688292
LHCGR, STON1-GTF2A1LLeydig cell agenesisPathogenic
(Oct 1, 2004)
no assertion criteria provided
37.
GRCh37:
Chr2:48915566
GRCh38:
Chr2:48688427
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityPathogenic
(Jul 1, 1998)
no assertion criteria provided
38.
GRCh37:
Chr2:48915576
GRCh38:
Chr2:48688437
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00120(T)
GO-ESP:0.00041(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr2:48915743
GRCh38:
Chr2:48688604
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityPathogenic
(Feb 1, 1996)
no assertion criteria provided
40.
GRCh37:
Chr2:48915818
GRCh38:
Chr2:48688679
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityPathogenic
(Feb 1, 1998)
no assertion criteria provided
41.
GRCh37:
Chr2:48915833
GRCh38:
Chr2:48688694
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityPathogenic
(Dec 1, 2000)
no assertion criteria provided
42.
GRCh37:
Chr2:48915871
GRCh38:
Chr2:48688732
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, not specified,
Hypergonadotropic hypogonadism
GMAF:0.40780(A)Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:48915876
GRCh38:
Chr2:48688737
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Luteinizing hormone resistance, femalePathogenic
(Jun 1, 1998)
no assertion criteria provided
44.
GRCh37:
Chr2:48915909
GRCh38:
Chr2:48688770
LHCGR, STON1-GTF2A1LLeydig cell agenesisPathogenic
(Jun 1, 2002)
no assertion criteria provided
45.
GRCh37:
Chr2:48915926
GRCh38:
Chr2:48688787
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00460(G)
GO-ESP:0.00212(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr2:48921375
GRCh38:
Chr2:48694236
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, not specified,
Hypergonadotropic hypogonadism
GMAF:0.40900(T)Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:48921438
GRCh38:
Chr2:48694299
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, not specified,
Hypergonadotropic hypogonadism
GMAF:0.01200(C)
GO-ESP:0.05191(C)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:48925746
GRCh38:
Chr2:48698607
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, not specified,
Hypergonadotropic hypogonadism
GMAF:0.26260(C)Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:48925809
GRCh38:
Chr2:48698670
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr2:48936157
GRCh38:
Chr2:48709018
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00100(A)
GO-ESP:0.00459(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr2:48936166
GRCh38:
Chr2:48709027
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00220(A)
GO-ESP:0.00096(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr2:48941073
GRCh38:
Chr2:48713934
LHCGR, STON1-GTF2A1LGonadotropin-independent familial sexual precocityGO-ESP:0.11430(-)
GMAF:0.14880(-)
Uncertain significance
(Aug 18, 2011)
criteria provided, single submitter
53.
GRCh37:
Chr2:48950758
GRCh38:
Chr2:48723619
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GO-ESP:0.00308(C)
GMAF:0.00040(C)
GO-ESP:0.00222(C)
Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:48950789
GRCh38:
Chr2:48723650
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GO-ESP:0.00062(T)
GMAF:0.00020(T)
GO-ESP:0.00033(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr2:48950789
GRCh38:
Chr2:48723650
LHCGR, STON1-GTF2A1LLeydig cell agenesisGMAF:0.00020(T)Pathogenic
(Oct 1, 2004)
no assertion criteria provided
56.
GRCh37:
Chr2:48950828
GRCh38:
Chr2:48723689
LHCGR, STON1-GTF2A1LLeydig cell hypoplasia, partialPathogenic
(Jul 1, 1997)
no assertion criteria provided
57.
GRCh37:
Chr2:48950850
GRCh38:
Chr2:48723711
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GO-ESP:0.00001(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr2:48952820
GRCh38:
Chr2:48725681
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00120(G)
GO-ESP:0.00068(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr2:48952861
GRCh38:
Chr2:48725722
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GO-ESP:0.00145(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr2:48982730
GRCh38:
Chr2:48755591
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.00040(T)
GO-ESP:0.00008(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr2:48982756-48982761
GRCh38:
Chr2:48755617-48755622
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, not specified,
Hypergonadotropic hypogonadism
GMAF:0.14460(GCTGCA)Benign
(Aug 23, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr2:48982757
GRCh38:
Chr2:48755618
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr2:48982868
GRCh38:
Chr2:48755729
LHCGR, STON1-GTF2A1LLeydig cell agenesis, Gonadotropin-independent familial sexual precocity, Hypergonadotropic hypogonadism
GMAF:0.25660(A)Benign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr2:48500265-49197158
FSHR, FOXN2, LHCGR, GTF2A1L, STON1, PPP1R21, STON1-GTF2A1LSee casesUncertain significanceno assertion criteria provided
65.
GRCh37:
Chr2:48808834-49422647
GRCh38:
Chr2:48581695-49195508
FSHR, LHCGR, GTF2A1L, STON1, STON1-GTF2A1L, MIR548BASee casesUncertain significance
(Jan 24, 2011)
no assertion criteria provided
66.
GRCh37:
Chr2:48770519-49469117
GRCh38:
Chr2:48543380-49241978
FSHR, LHCGR, GTF2A1L, STON1, STON1-GTF2A1L, MIR548BASee casesUncertain significance
(Aug 19, 2013)
no assertion criteria provided
67.
GRCh37:
Chr2:7635254-88005418
GRCh38:
Chr2:7495123-87705899
ACTG2, ACYP2, ADCY3, ADD2, ALK, ANXA4, APOB, RHOB, ATP6V1B1, AUP1, BCYRN1, ZFP36L2, CAD, CALM2, CAPG, CD8A, CD8B, CENPA, CTNNA2, CYP1B1, DCTN1, DDX1, DGUOK, DNAH6, DNMT3A, DOK1, DTNB, E2F6, EGR4, EMX1, EPAS1, EFEMP1, FKBP1B, FOSL2, FSHR, GCKR, GFPT1, GGCX, MSH6, GTF3C2, HADHA, HADHB, HK2, TLX2, HPCAL1, FOXN2, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LHCGR, LTBP1, EPCAM, MXD1, MAT2A, MATN3, MDH1, MEIS1, MPV17, MSH2, MTIF2, MYCN, ODC1, OTX1, REG3A, PCBP1, PEX13, VIT, PIGF, PLEK, PLGLB1, POMC, PPM1B, PPM1G, PPP1CB, PPP3R1, PRKCE, EIF2AK2, RAB1A, REL, REG1A, REG1B, RPS27A, RRM2, RTKN, SDC1, SRSF7, SFTPB, SIX3, SLC1A4, SLC3A1, SLC8A1, SNRPG, SOS1, SPAST, SPR, SPTBN1, SRD5A2, STRN, ADAM17, TACR1, GCFC2, TGFA, TIA1, UCN, UGP2, VRK2, VSNL1, XDH, XPO1, SLC30A3, ALMS1, MOGS, RNF103, DYSF, DUSP11, KLF11, MAP4K3, NCOA1, VAMP8, SUCLG1, ASAP2, ST3GAL5, SLC5A6, EIF2B4, TAF1B, NAT8, COX7A2L, TMSB10, ITGB1BP1, NRXN1, OTOF, CRIPT, ROCK2, TP53I3, MRPL33, BRE, PREPL, FEZ2, SOCS5, GREB1, USP34, LAPTM4A, SNX17, SERTAD2, MRPL19, SUPT7L, ARHGAP25, ACTR2, PREB, LRPPRC, PDIA6, CEBPZ, MPHOSPH10, SMYD5, MYCNOS, C1D, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, CGREF1, B3GNT2, USP39, SIX2, VAMP5, MTHFD2, PROKR1, RAB10, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, EMILIN1, GPN1, AAK1, MAPRE3, SLC4A1AP, EFR3B, WDR43, LPIN1, CEP68, PSME4, EXOC6B, EHBP1, PUM2, RHOQ, HAAO, WBP1, NTSR2, PRKD3, RASGRP3, QPCT, VAX2, POLR1A, CNRIP1, FAM98A, RAB11FIP5, IFT172, SNORD53, NFU1, ERLEC1, BMP10, ZNF638, HTRA2, EML4, TRIB2, LGALSL, GRHL1, NRBP1, EHD3, CD207, ITSN2, TPRKB, WDPCP, MEMO1, ASB3, CRIM1, RNF181, DNAJC27, MRPL35, ATRAID, PCYOX1, NAT8B, VPS54, NBAS, DYNC2LI1, SF3B6, YPEL5, CHMP3, CPSF3, BCL11A, ATAD2B, ETAA1, HEATR5B, AFTPH, TMEM214, RETSAT, SLC35F6, C2orf42, TRMT61B, PTCD3, FANCL, SRBD1, MOB1A, ASXL2, NDUFAF7, NAGK, TTC27, SLC30A6, CCDC88A, KDM3A, GKN1, CYP26B1, POLE4, KCNK12, KCMF1, DPYSL5, PNO1, RTN4, TRIM54, PELI1, TTC7A, PPP4R3B, BIRC6, KIDINS220, MTA3, WDR35, RDH14, SLC4A5, NLRC4, AGBL5, LDAH, THADA, RBKS, ATL2, ABCG5, ABCG8, HS1BP3, GMCL1, TTC31, RMND5A, FNDC4, PAPOLG, REEP1, CENPO, GALNT14, CCDC121, SMC6, CLIP4, CAMKMT, GEMIN6, NOL10, ANKRD53, LRRTM4, FBXO11, WDCP, THUMPD2, FAM49A, LBH, TCF7L1, INO80B, WDR54, FAM161A, EVA1A, ANTXR1, ELMOD3, C2orf16, YIPF4, PRADC1, ZNF512, KIAA1841, DPY30, MCEE, LOXL3, ABHD1, PCGF1, CCDC142, FAM136A, ATOH8, SELENOI, LBX2, PNPT1, MCFD2, ATP6V1E2, LOC90784, DHX57, PKDCC, CAPN13, DRC1, HNRNPLL, NT5C1B, SFXN5, CYTOR, CFAP36, TEX261, CCDC85A, KLHL29, WDR92, MRPL53, PPP1R21, TRABD2A, TMEM150A, MBOAT2, C2orf73, CIB4, REG3G, CLHC1, PLEKHH2, OSR1, TTC32, ZNF513, GALM, TMEM178A, C2orf50, PQLC3, AHSA2, M1AP, COMMD1, FBXO41, TCF23, GAREM2, PUS10, LINC00309, PLB1, FAM84A, RMDN2, GDF7, ASPRV1, LBX2-AS1, ADGRF3, OXER1, TOGARAM2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, TET3, GKN2, APLF, KRTCAP3, TMEM17, SPRED2, SPDYA, ATP6V1C2, LCLAT1, GPATCH11, SH2D6, LOC284950, LOC285043, LINC00486, C2orf61, DNAJC5G, IAH1, FLJ33534, CYP1B1-AS1, STON1-GTF2A1L, C2orf70, PRR30, LINC00298, LINC00299, LOC339803, C2orf74, LOC339807, MSGN1, FIGLA, NOTO, CDKL4, LRRTM1, GEN1, C2orf48, PFN4, FAM228B, LOC375196, MFSD2B, C2orf71, LINC01913, TMEM247, LINC01118, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, PTRHD1, SULT6B1, LINC01376, LINC00954, C2orf91, LINC01121, EML6, LINC01122, LINC01185, LOC400958, PCBP1-AS1, PAIP2B, RGPD1, FLJ31356, MIR216A, MIR217, CAPN14, CHAC2, FBXO48, HCG2040054, LINC01829, LINC01822, FAM228A, LOC653602, SNORD92, SNORD94, MIR558, MIR559, LOC728730, C1GALT1C1L, LINC01873, RAD51AP2, DNAJC27-AS1, MORN2, LOC730100, MEIS1-AS3, TRA-AGC8-1, SNORA36C, SNORA70B, MIR216B, SLC8A1-AS1, OST4, TDRD15, LOC100129434, LINC01126, LINC01460, LOC100132215, LINC01816, LINC01119, SNAR-H, TRY-GTA2-1, TRG-CCC2-1, TRI-TAT2-1, DCTN1-AS1, ARHGEF33, LOC100271832, LOC100288911, MIR1301, MIR1285-2, BRE-AS1, GPR75-ASB3, SNORA80B, MIR548S, MIR4264, MIR4261, MIR4263, MIR3125, MIR4262, MIR3126, LINC00276, MIR3682, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LOC100505774, CEBPZOS, SOS1-IT1, SIX3-AS1, LOC100506142, ID2-AS1, MIR3681HG, LOC100506474, LOC100507006, LINC01798, ZNF638-IT1, BOLA3-AS1, LINC01815, RNF103-CHMP3, NT5C1B-RDH14, INO80B-WBP1, MIR4430, MIR4779, MIR4765, MIR4433A, MIR4757, MIR4771-1, MIR4434, MIR4431, MIR4778, MIR4429, MIR4432, MIR548AD, MIR4435-1, PARTICL, MIR5000, MIR5192, MEIS1-AS2, AGBL5-AS1, DGUOK-AS1, LINC00570, TGFA-IT1, ALMS1-IT1, HS1BP3-IT1, LINC01964, LINC01883, LINC01799, RMDN2-AS1, LOC101805491, LINC01804, LOC101927043, LINC01813, LINC01793, LOC101927402, LINC01800, LINC01797, LOC101927661, LINC01812, ATP6V1B1-AS1, LINC01293, LOC101927884, LOC101927907, LINC01851, LOC101927948, LOC101927967, LOC101927987, LINC01809, ST3GAL5-AS1, LOC101928222, LINC01871, LOC101929551, LINC00211, LINC01814, LOC101929596, LINC01794, LOC101929715, LINC01914, LINC01954, LOC101929882, MIR4433B, MIR548BA, MIR8080, MIR6071, LINC01884, LOC102723824, LINC01819, LINC01628, LINC01291, LOC102724579, LINC01828, MIR8485, MYCNUT, BIRC6-AS2, LINC01143, LINC01317, LINC01320, MIR217HG, GACAT3, LINC01808, LINC01830, LOC105374389, LINC01946, LINC01820, LINC01867, LINC01795, LINC01805, LINC01890, LOC105374820, LINC01381, LINC01318, MIR4432HG
See casesBenign
(Feb 4, 2013)
no assertion criteria provided
68.
GRCh37:
Chr2:48861903-48988580
GRCh38:
Chr2:48634764-48761441
LHCGR, GTF2A1L, STON1-GTF2A1LSee casesPathogenic
(Apr 2, 2013)
no assertion criteria provided
69.
GRCh37:
Chr2:47033357-50792676
GRCh38:
Chr2:46806218-50565538
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
70.
GRCh37:
Chr2:40965422-58090956
GRCh38:
Chr2:40738282-57863821
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
71.
GRCh37:
Chr2:66097-55797773
GRCh38:
Chr2:66097-55570637
ACP1, ACYP2, ADCY3, ALK, APOB, RHOB, BCYRN1, ZFP36L2, CAD, CALM2, CENPA, CYP1B1, DDX1, DNMT3A, DTNB, E2F6, EPAS1, FKBP1B, FOSL2, FSHR, GCKR, MSH6, GTF3C2, HADHA, HADHB, HPCAL1, FOXN2, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LHCGR, LTBP1, EPCAM, MATN3, MPV17, MSH2, MTIF2, MYCN, ODC1, VIT, PIGF, POMC, PPM1B, PPM1G, PPP1CB, PRKCE, EIF2AK2, RPS7, RPS27A, RRM2, SDC1, SRSF7, SIX3, SLC3A1, SLC8A1, SOS1, SOX11, SPAST, SPTBN1, SRD5A2, STRN, ADAM17, TPO, TSSC1, UCN, VSNL1, XDH, SLC30A3, PXDN, KLF11, MAP4K3, NCOA1, ASAP2, SLC5A6, EIF2B4, TAF1B, COX7A2L, ITGB1BP1, NRXN1, OTOF, CRIPT, ROCK2, TP53I3, MRPL33, BRE, PREPL, FEZ2, SOCS5, GREB1, LAPTM4A, RNF144A, SNX17, SUPT7L, PREB, LRPPRC, PDIA6, CEBPZ, MYCNOS, CDC42EP3, CGREF1, SIX2, RAB10, GPR75, YWHAQ, GTF2A1L, STON1, EMILIN1, GPN1, MAPRE3, SLC4A1AP, EFR3B, MYT1L, WDR43, LPIN1, PSME4, PUM2, RHOQ, HAAO, NTSR2, PRKD3, RASGRP3, QPCT, FAM98A, IFT172, SH3YL1, SNORD53, ERLEC1, EML4, TRIB2, GRHL1, NRBP1, EHD3, ITSN2, MEMO1, TRAPPC12, ASB3, CRIM1, DNAJC27, ATRAID, NBAS, DYNC2LI1, SF3B6, YPEL5, CPSF3, SNTG2, ATAD2B, HEATR5B, TMEM214, SLC35F6, TRMT61B, SRBD1, ASXL2, ADI1, NDUFAF7, TTC27, SLC30A6, CCDC88A, ALLC, KCNK12, DPYSL5, RTN4, TRIM54, TTC7A, PPP4R3B, BIRC6, KIDINS220, MTA3, WDR35, RDH14, NLRC4, AGBL5, LDAH, THADA, RBKS, ATL2, ABCG5, ABCG8, HS1BP3, FNDC4, COLEC11, CENPO, GALNT14, CCDC121, SMC6, CLIP4, CAMKMT, GEMIN6, NOL10, FBXO11, WDCP, THUMPD2, FAM49A, LBH, C2orf16, YIPF4, ZNF512, DPY30, ABHD1, SELENOI, MCFD2, ATP6V1E2, DHX57, PKDCC, RSAD2, CAPN13, DRC1, HNRNPLL, NT5C1B, CFAP36, KLHL29, PPP1R21, CMPK2, MBOAT2, TMEM18, C2orf73, CIB4, CLHC1, PLEKHH2, OSR1, TTC32, ZNF513, GALM, TMEM178A, C2orf50, PQLC3, LINC01105, TCF23, GAREM2, PLB1, FAM84A, RMDN2, GDF7, ADGRF3, OXER1, TOGARAM2, UBXN2A, KCNG3, CYS1, KRTCAP3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, ALKAL2, LOC285043, LINC00486, C2orf61, DNAJC5G, IAH1, FLJ33534, CYP1B1-AS1, STON1-GTF2A1L, C2orf70, PRR30, LINC00298, LINC00299, LINC01115, MSGN1, CDKL4, GEN1, C2orf48, PFN4, FAM228B, LOC375196, RNF144A-AS1, MFSD2B, C2orf71, LINC01913, TMEM247, LINC01118, TSPYL6, PTRHD1, SULT6B1, LOC400940, LINC00487, LINC01376, LINC00954, C2orf91, LINC01121, EML6, FLJ31356, CAPN14, CHAC2, HCG2040054, LINC01822, FAM228A, LOC653602, SNORD92, MIR558, MIR559, LINC01874, LINC01249, DCDC2C, LOC728730, C1GALT1C1L, RAD51AP2, DNAJC27-AS1, MORN2, LOC730100, MYT1L-AS1, TRA-AGC8-1, SLC8A1-AS1, OST4, TDRD15, LINC01126, LINC01460, LINC01119, TRY-GTA2-1, TRI-TAT2-1, ARHGEF33, LOC100271832, LOC100288911, MIR1301, BRE-AS1, GPR75-ASB3, SNORA80B, MIR548S, MIR4261, MIR4263, MIR3125, MIR4262, LINC00276, MIR3682, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LOC100505774, CEBPZOS, SOS1-IT1, LINC01304, RNASEH1-AS1, SIX3-AS1, LOC100506142, LOC100506274, ID2-AS1, MIR3681HG, LOC100506474, NT5C1B-RDH14, MIR4430, MIR4765, MIR4757, MIR4431, MIR4429, MIR548AD, AGBL5-AS1, LINC00570, HS1BP3-IT1, LINC01883, LINC01939, LOC101060391, RMDN2-AS1, LOC101805491, LINC01804, LOC101927043, LINC01875, LINC01250, LOC101928222, LINC01247, LOC101929452, LINC01871, LOC101929551, LINC00211, LINC01814, LOC101929596, LINC01794, LOC101929715, LINC01914, LINC01954, LOC101929882, MIR7158, MIR548BA, MIR7515, LINC01884, LINC01248, LOC102723824, LINC01819, MIR7515HG, LINC01246, MIR8485, MYCNUT, BIRC6-AS2, NRIR, LINC01317, LINC01320, GACAT3, LINC01865, LOC105373352, LOC105373394, LINC01810, LINC01808, LINC01830, LOC105374389, LINC01946, LINC01820, LINC01867, LINC01381, LINC01318, LOC107985837
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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