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Items: 77

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
CBLRasopathyPathogenic
(Jan 21, 2013)
criteria provided, single submitter
2.
CBLRasopathyBenign
(Jun 16, 2014)
criteria provided, single submitter
3.
CBLRasopathyBenign
(Jan 7, 2013)
criteria provided, single submitter
4.
GRCh37:
Chr11:119077252
GRCh38:
Chr11:119206542
CBLRasopathyUncertain significance
(Apr 2, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr11:119077252-119077254
GRCh38:
Chr11:119206542-119206544
CBLRasopathyBenign
(Sep 8, 2013)
criteria provided, single submitter
6.
GRCh37:
Chr11:119077252-119077254
GRCh38:
Chr11:119206542-119206544
CBLnot specified, Rasopathy, Noonan-Like Syndrome Disorder
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr11:119103164
GRCh38:
Chr11:119232454
CBLnot specifiedUncertain significance
(Mar 18, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr11:119103268
GRCh38:
Chr11:119232558
CBLnot providedPathogenic
(Dec 26, 2012)
criteria provided, single submitter
9.
GRCh37:
Chr11:119142470
GRCh38:
Chr11:119271760
CBLnot specifiedGO-ESP:0.00001(G)Uncertain significance
(Jun 4, 2013)
criteria provided, single submitter
10.
GRCh37:
Chr11:119142514
GRCh38:
Chr11:119271804
CBLnot specified, Rasopathy, Noonan-Like Syndrome Disorder
GO-ESP:0.00739(C)
GMAF:0.01100(C)
GO-ESP:0.00495(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:119142540
GRCh38:
Chr11:119271830
CBLnot specifiedUncertain significance
(May 27, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr11:119144582
GRCh38:
Chr11:119273872
CBLnot specifiedGO-ESP:0.00004(G)Uncertain significance
(Dec 24, 2015)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr11:119144685
GRCh38:
Chr11:119273975
CBLnot specifiedGO-ESP:0.00015(G)
GO-ESP:0.00001(G)
Uncertain significance
(Aug 28, 2012)
criteria provided, single submitter
14.
GRCh37:
Chr11:119145632
GRCh38:
Chr11:119274922
CBLRasopathyGO-ESP:0.00003(T)Uncertain significance
(Sep 2, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr11:119145633
GRCh38:
Chr11:119274923
CBLnot specifiedGO-ESP:0.00003(A)Uncertain significance
(Oct 10, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr11:119145667
GRCh38:
Chr11:119274957
CBLnot specified, not provided, Rasopathy,
Noonan-Like Syndrome Disorder
GO-ESP:0.02364(G)
GMAF:0.02420(G)
GO-ESP:0.00624(G)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr11:119145682
GRCh38:
Chr11:119274972
CBLnot specified, RasopathyGO-ESP:0.00162(G)
GMAF:0.00200(G)
GO-ESP:0.00063(G)
Benign
(Apr 2, 2012)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr11:119146813
GRCh38:
Chr11:119276103
CBLRasopathyUncertain significance
(Jun 27, 2014)
criteria provided, single submitter
19.
GRCh37:
Chr11:119148535-119148546
GRCh38:
Chr11:119277825-119277836
CBLRasopathyPathogenic
(May 13, 2012)
criteria provided, single submitter
20.
GRCh37:
Chr11:119148572
GRCh38:
Chr11:119277862
CBLnot specifiedGMAF:0.00020(G)
GO-ESP:0.00010(G)
Benign
(Jul 31, 2013)
criteria provided, single submitter
21.
GRCh37:
Chr11:119148573
GRCh38:
Chr11:119277863
CBLnot specified, RasopathyGO-ESP:0.62458(T)
GMAF:0.27140(G)
Benign
(Jan 9, 2012)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:119148872-119148875
GRCh38:
Chr11:119278162-119278165
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, RasopathyPathogenic/Likely pathogenic
(Apr 14, 2014)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr11:119148875
GRCh38:
Chr11:119278165
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, not providedPathogenic
(Jan 26, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:119148880
GRCh38:
Chr11:119278170
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, not providedPathogenic
(Apr 11, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:119148891
GRCh38:
Chr11:119278181
CBLRasopathyPathogenic
(Nov 5, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr11:119148930
GRCh38:
Chr11:119278220
CBLRasopathyPathogenic
(Nov 8, 2013)
criteria provided, single submitter
27.
GRCh37:
Chr11:119148966
GRCh38:
Chr11:119278256
CBLNoonan syndrome-like disorder with juvenile myelomonocytic leukemia, not providedGO-ESP:0.00002(C)Pathogenic
(Feb 19, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr11:119148979
GRCh38:
Chr11:119278269
CBLnot providedPathogenic
(Jun 19, 2012)
criteria provided, single submitter
29.
GRCh37:
Chr11:119148981
GRCh38:
Chr11:119278271
CBLnot providedPathogenic
(Feb 19, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr11:119149009-119149011
GRCh38:
Chr11:119278299-119278301
CBLRasopathyPathogeniccriteria provided, single submitter
31.
GRCh37:
Chr11:119149011
GRCh38:
Chr11:119278301
CBLnot specified, Rasopathy, Noonan-Like Syndrome Disorder
GO-ESP:0.00031(T)
GO-ESP:0.00086(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:119149218
GRCh38:
Chr11:119278508
CBLJuvenile myelomonocytic leukemia, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Rasopathy
Pathogenic/Likely pathogenic
(Feb 10, 2016)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr11:119149229
GRCh38:
Chr11:119278519
CBLnot providedLikely pathogenic
(May 11, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr11:119149279
GRCh38:
Chr11:119278569
CBLnot specified, Noonan-Like Syndrome DisorderGO-ESP:0.00050(T)Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr11:119149290
GRCh38:
Chr11:119278580
CBLnot specifiedUncertain significance
(Sep 3, 2014)
criteria provided, single submitter
36.
GRCh37:
Chr11:119149343
GRCh38:
Chr11:119278633
CBLnot specifiedUncertain significance
(Nov 13, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr11:119149351
GRCh38:
Chr11:119278641
CBLnot specified, RasopathyGMAF:0.00260(C)
GO-ESP:0.00049(C)
Benign
(Mar 8, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr11:119149358
GRCh38:
Chr11:119278648
CBLnot specifiedUncertain significance
(Dec 28, 2015)
criteria provided, single submitter
39.
GRCh37:
Chr11:119149372-119149374
GRCh38:
Chr11:119278662-119278664
CBLnot specified, RasopathyConflicting interpretations of pathogenicity
(Dec 26, 2013)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr11:119149376
GRCh38:
Chr11:119278666
CBLnot specifiedUncertain significance
(Dec 18, 2015)
criteria provided, single submitter
41.
GRCh37:
Chr11:119155706
GRCh38:
Chr11:119284996
CBLnot specifiedGO-ESP:0.00008(G)
GO-ESP:0.00017(G)
Uncertain significance
(Sep 27, 2012)
criteria provided, single submitter
42.
GRCh37:
Chr11:119155724
GRCh38:
Chr11:119285014
CBLnot specifiedGO-ESP:0.00012(T)Uncertain significance
(Dec 1, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr11:119155732
GRCh38:
Chr11:119285022
CBLnot specified, Noonan-Like Syndrome DisorderGMAF:0.00860(A)
GO-ESP:0.00434(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr11:119155763
GRCh38:
Chr11:119285053
CBLnot specifiedUncertain significance
(Jan 15, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr11:119155886
GRCh38:
Chr11:119285176
CBLnot specified, Noonan-Like Syndrome DisorderGMAF:0.00240(T)
GO-ESP:0.00106(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:119155976
GRCh38:
Chr11:119285266
CBLnot specified, Rasopathy, Noonan-Like Syndrome Disorder
GO-ESP:0.00131(C)
GMAF:0.00080(C)
GO-ESP:0.00077(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr11:119156058
GRCh38:
Chr11:119285348
CBLnot specifiedGO-ESP:0.00015(G)
GO-ESP:0.00002(G)
Likely benign
(Jul 20, 2012)
criteria provided, single submitter
48.
GRCh37:
Chr11:119156089
GRCh38:
Chr11:119285379
CBLnot specifiedUncertain significance
(Oct 13, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr11:119156113
GRCh38:
Chr11:119285403
CBLnot specifiedUncertain significance
(Sep 19, 2013)
criteria provided, single submitter
50.
GRCh37:
Chr11:119156158
GRCh38:
Chr11:119285448
CBLnot specifiedUncertain significance
(Oct 3, 2012)
criteria provided, single submitter
51.
GRCh37:
Chr11:119156164
GRCh38:
Chr11:119285454
CBLnot specified, Noonan-Like Syndrome DisorderGO-ESP:0.00001(A)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr11:119156193
GRCh38:
Chr11:119285483
CBLnot specified, Rasopathy, Noonan-Like Syndrome Disorder
GO-ESP:0.00077(T)
GMAF:0.01120(T)
GO-ESP:0.00288(T)
Benign/Likely benign, not provided
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr11:119156206
GRCh38:
Chr11:119285496
CBLnot specifiedGO-ESP:0.00038(C)
GO-ESP:0.00004(C)
Uncertain significance
(Aug 31, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr11:119158562
GRCh38:
Chr11:119287852
CBLnot specifiedGMAF:0.00040(C)
GO-ESP:0.00007(C)
Uncertain significance
(Dec 16, 2015)
criteria provided, single submitter
55.
GRCh37:
Chr11:119158611
GRCh38:
Chr11:119287901
CBLnot specifiedUncertain significance
(Nov 12, 2012)
criteria provided, single submitter
56.
GRCh37:
Chr11:119167641
GRCh38:
Chr11:119296931
CBLnot specified, Noonan-Like Syndrome DisorderUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:119167651
GRCh38:
Chr11:119296941
CBLRasopathy, Noonan-Like Syndrome DisorderGO-ESP:0.00007(T)Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:119167653
GRCh38:
Chr11:119296943
CBLnot specifiedGO-ESP:0.00002(T)Likely benign
(Dec 27, 2013)
criteria provided, single submitter
59.
GRCh37:
Chr11:119168130
GRCh38:
Chr11:119297420
CBLnot specified, Rasopathy, Noonan-Like Syndrome Disorder
GMAF:0.00040(C)
GO-ESP:0.00205(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:119168146
GRCh38:
Chr11:119297436
CBLnot specifiedGO-ESP:0.00002(G)Likely benign
(Jan 24, 2012)
criteria provided, single submitter
61.
GRCh37:
Chr11:119168156
GRCh38:
Chr11:119297446
CBLnot specified, Rasopathy, Noonan-Like Syndrome Disorder
GMAF:0.00040(T)
GO-ESP:0.00051(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr11:119169085
GRCh38:
Chr11:119298375
CBLnot specified, Noonan-Like Syndrome DisorderGO-ESP:0.00092(A)
GMAF:0.00140(A)
GO-ESP:0.00129(A)
Benign/Likely benign, not provided
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr11:119169128
GRCh38:
Chr11:119298418
CBLnot specifiedGO-ESP:0.00015(T)
GO-ESP:0.00012(T)
Conflicting interpretations of pathogenicity
(Jun 26, 2015)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr11:119169161
GRCh38:
Chr11:119298451
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, not specified, Rasopathy,
Noonan-Like Syndrome Disorder
GO-ESP:0.00231(T)
GMAF:0.00220(T)
GO-ESP:0.00073(T)
Conflicting interpretations of pathogenicity, not provided
(Jun 14, 2016)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr11:119169166
GRCh38:
Chr11:119298456
CBLnot specifiedGO-ESP:0.00008(A)
GMAF:0.00020(A)
GO-ESP:0.00003(A)
Uncertain significance
(Jun 8, 2015)
criteria provided, single submitter
66.
GRCh37:
Chr11:119169176
GRCh38:
Chr11:119298466
CBLnot specifiedGO-ESP:0.00015(A)
GMAF:0.00020(A)
GO-ESP:0.00005(A)
Likely benign
(Sep 30, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr11:119169179
GRCh38:
Chr11:119298469
CBLnot specifiedGMAF:0.00020(A)
GO-ESP:0.00016(A)
Uncertain significance
(Jun 3, 2014)
criteria provided, single submitter
68.
GRCh37:
Chr11:119170254
GRCh38:
Chr11:119299544
CBLnot specifiedGMAF:0.00100(A)
GO-ESP:0.00045(A)
Benign
(Jan 21, 2013)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr11:119170273
GRCh38:
Chr11:119299563
CBLnot specifiedGO-ESP:0.00002(T)Uncertain significance
(May 22, 2013)
criteria provided, single submitter
70.
GRCh37:
Chr11:119170312
GRCh38:
Chr11:119299602
CBLnot specifiedGO-ESP:0.00038(A)
GMAF:0.00060(A)
GO-ESP:0.00013(A)
Likely benign
(Aug 20, 2012)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr11:119170354
GRCh38:
Chr11:119299644
CBLnot specifiedGO-ESP:0.00003(A)Uncertain significance
(Jul 19, 2012)
criteria provided, single submitter
72.
GRCh37:
Chr11:119170358
GRCh38:
Chr11:119299648
CBLnot specifiedGO-ESP:0.00031(G)
GO-ESP:0.00012(G)
Conflicting interpretations of pathogenicity
(Aug 9, 2012)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr11:119170362
GRCh38:
Chr11:119299652
CBLnot specified, Noonan-Like Syndrome DisorderGO-ESP:0.03688(T)
GMAF:0.03440(T)
GO-ESP:0.01002(T)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr11:119170462
GRCh38:
Chr11:119299752
CBLnot specifiedUncertain significance
(Aug 28, 2012)
criteria provided, single submitter
75.
GRCh37:
Chr11:119170480
GRCh38:
Chr11:119299770
CBLnot specified, Noonan-Like Syndrome DisorderGMAF:0.00600(A)
GO-ESP:0.00141(A)
Benign/Likely benign, not provided
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr11:115215434-120559928
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr11:100219331-134910140
GRCh38:
Chr11:100348599-135040246
ACAT1, ACRV1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, ATM, FXYD2, CXCR5, CASP1, CASP4, CASP5, CBL, CD3D, CD3E, CD3G, CHEK1, CRYAB, DDX6, DDX10, DLAT, DPAGT1, DRD2, ETS1, FDX1, FLI1, SLC37A4, GRIA4, GRIK4, GUCY1A2, H2AFX, HMBS, HSPA8, HSPB2, HTR3A, IL10RA, IL18, STT3A, KCNJ1, KCNJ5, VWA5A, MCAM, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, NCAM1, NFRKB, NNMT, NPAT, NRGN, OPCML, PAFAH1B2, PGR, POU2AF1, PPP2R1B, PTS, NECTIN1, RDX, RPS25, SC5D, SCN2B, SCN4B, SDHD, ST3GAL4, SLN, SORL1, SRPRA, ST14, TAGLN, TECTA, THY1, TRPC6, UPK2, ZBTB16, ZNF202, CUL5, BARX2, ZPR1, USP2, PCSK7, HTR3B, ZW10, MMP20, UBE4A, EI24, FEZ1, ARHGAP32, C2CD2L, RBM7, MPZL2, YAP1, HYOU1, ATP5L, ADAMTS8, TREH, CEP164, IGSF9B, EXPH5, PHLDB1, SIK2, NCAPD3, ARHGEF12, SIK3, VSIG2, BACE1, TRIM29, CADM1, POU2F3, HINFP, REXO2, OR8G2, OR8B8, OR8G1, TIMM8B, OR8B2, ACAD8, B3GAT1, DCPS, ZBTB44, THYN1, DDX25, NTM, CDON, SIDT2, TRAPPC4, SPA17, FXYD6, CNTN5, SIAE, C11orf71, ROBO4, SLC35F2, RAB39A, BTG4, NXPE4, TTC12, C11orf57, ELMOD1, FOXRED1, SCN3B, VPS11, TEX12, CRTAM, TMPRSS4, IFT46, PRDM10, DSCAML1, GRAMD1B, CEP126, ARHGAP20, USP28, CARD18, AASDHPPT, PKNOX2, TP53AIP1, MMP27, ABCG4, ROBO3, C11orf1, RNF26, FAM118B, DYNC2H1, NLRX1, MSANTD2, ALG9, CLMP, PDZD3, C11orf63, CCDC15, PDGFD, TMPRSS5, PUS3, MFRP, JAM3, BCO2, TMEM133, TMPRSS13, DCUN1D5, MSANTD4, KIRREL3, BUD13, TMEM25, RPUSD4, TBRG1, UBASH3B, C11orf70, SNORD14C, SNORD14D, SNORD14E, DIXDC1, ZC3H12C, GLB1L2, ESAM, ALKBH8, FDXACB1, C11orf52, VPS26B, GLB1L3, TIRAP, CARD16, C1QTNF5, TMEM123, PANX3, APOA5, TMEM45B, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, ARHGAP42, KBTBD3, CWF19L2, KDELC2, LAYN, TTC36, PATE1, C11orf65, ADAMTS15, MPZL3, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, SPATA19, HEPACAM, OAF, ANGPTL5, ANKK1, RNF214, LOC283140, LINC00900, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, KIRREL3-AS3, C11orf44, MIR4697HG, LOC283177, CCDC84, TMEM225, OR8D4, C11orf53, PLET1, LOC387810, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, C11orf87, COLCA1, C11orf88, MIR100HG, PATE2, PATE4, ST3GAL4-AS1, SNX19, LOC403312, MIRLET7A2, MIR100, MIR125B1, MIR34B, MIR34C, DDI1, BLID, CARD17, LINC00167, HEPN1, LOC643923, CLDN25, LOC646522, LOC649133, LOC100128088, LOC100128239, LOC100128386, LOC100131626, LOC100132078, LOC100132686, PATE3, ZNF123P, TRK-TTT2-1, NCAM1-AS1, BACE1-AS, MIR4301, MIR3167, USP2-AS1, MIR3920, MIR3656, CASP12, LOC100507283, SENCR, LOC100507431, LOC100507548, TMPRSS4-AS1, HSPB2-C11orf52, FXYD6-FXYD2, MIR4697, MIR4493, MIR4491, MIR4492, MIR4693, LOC100652768, KIRREL3-AS2, NTM-IT, LOC101054525, LOC101928424, LOC101928535, LOC101928823, LOC101928847, LOC101928940, LOC101928985, LOC101929011, LOC101929089, LOC101929208, LOC101929227, LOC101929340, LOC101929427, LOC101929473, LOC101929497, LOC101929517, LOC101929538, LINC01395, NTM-AS1, LOC101929653, MIR6756, MIR7641-1, MIR6090, MIR6716, MIR8052, LOC102723838, LOC102723895, LOC102724301, LOC103611081, PKNOX2-AS1, APOA1-AS, LOC105369473, LOC105369486, LOC105369507, LOC105369509, LOC105369532, STT3A-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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