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Items: 54

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
SDHDParagangliomas 1Pathogenic
(Nov 1, 2004)
no assertion criteria provided
2.
GRCh37:
Chr11:111957632
GRCh38:
Chr11:112086908
SDHDnot provided, Hereditary cancer-predisposing syndromePathogenic
(Nov 7, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr11:111957632
GRCh38:
Chr11:112086908
SDHDPheochromocytoma, Paragangliomas 1, Carotid body paraganglioma
Pathogenic
(May 20, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr11:111957634
GRCh38:
Chr11:112086910
SDHDParagangliomas 1, Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndrome
Pathogenic
(Aug 11, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr11:111957641
GRCh38:
Chr11:112086917
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1
Pathogenic
(Jan 1, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr11:111957645
GRCh38:
Chr11:112086921
SDHDPheochromocytomaPathogenic
(May 9, 2002)
no assertion criteria provided
7.
GRCh37:
Chr11:111957664
GRCh38:
Chr11:112086940
SDHDPheochromocytoma, Hereditary cancer-predisposing syndromePathogenic
(Feb 2, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr11:111957665
GRCh38:
Chr11:112086941
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Carcinoid tumor of intestine,
Paragangliomas 1, not specified, not provided,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Jan 30, 2017)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr11:111957685
GRCh38:
Chr11:112086961
SDHDParagangliomas 1Pathogenic
(Dec 15, 2000)
no assertion criteria provided
10.
GRCh37:
Chr11:111958581
GRCh38:
Chr11:112087857
SDHDnot provided, Hereditary cancer-predisposing syndromePathogenic/Likely pathogenic
(Mar 29, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:111958585
GRCh38:
Chr11:112087861
SDHDParaganglioma and gastric stromal sarcoma, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(May 23, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:111958592
GRCh38:
Chr11:112087868
SDHDPheochromocytoma, Paragangliomas 1, Hereditary cancer-predisposing syndrome
Pathogenic
(Feb 4, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr11:111958622-111958623
GRCh38:
Chr11:112087898-112087899
SDHDParagangliomas 1, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Jun 10, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr11:111958623
GRCh38:
Chr11:112087899
SDHDParagangliomas 1Pathogenic
(May 15, 2001)
no assertion criteria provided
15.
GRCh37:
Chr11:111958634
GRCh38:
Chr11:112087910
SDHDParagangliomas 1, Hereditary cancer-predisposing syndromePathogenic
(Jul 25, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr11:111958640
GRCh38:
Chr11:112087916
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Hereditary Paraganglioma-Pheochromocytoma Syndromes, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Oct 12, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr11:111958657
GRCh38:
Chr11:112087933
SDHDParagangliomas 1, Hereditary cancer-predisposing syndromePathogenic
(Jul 1, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr11:111958675
GRCh38:
Chr11:112087951
SDHDHereditary cancer-predisposing syndromePathogenic
(Apr 21, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr11:111958677
GRCh38:
Chr11:112087953
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Carcinoid tumor of intestine,
Paragangliomas 1, Merkel cell carcinoma, not specified,
MERKEL CELL CARCINOMA, SOMATIC, not provided, Cowden syndrome 3,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Jan 31, 2017)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr11:111958683
GRCh38:
Chr11:112087959
SDHDHereditary cancer-predisposing syndromePathogenic
(Dec 5, 2013)
criteria provided, single submitter
21.
GRCh37:
Chr11:111959594
GRCh38:
Chr11:112088870
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1
Pathogenic
(Mar 8, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr11:111959612-111959613
GRCh38:
Chr11:112088888-112088889
SDHDParagangliomas 1 with sensorineural hearing loss, not providedPathogenic
(Jul 25, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr11:111959626
GRCh38:
Chr11:112088902
SDHDMitochondrial complex II deficiency, not providedPathogenic/Likely pathogenic
(Mar 6, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr11:111959663
GRCh38:
Chr11:112088939
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1
Pathogenic
(Mar 17, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr11:111959663
GRCh38:
Chr11:112088939
SDHDPheochromocytoma, Paragangliomas 1, Hereditary Paraganglioma-Pheochromocytoma Syndromes,
Paragangliomas 1 with sensorineural hearing loss, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Jan 14, 2017)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr11:111959695
GRCh38:
Chr11:112088971
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Pathogenic
(Nov 19, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr11:111959696
GRCh38:
Chr11:112088972
SDHDnot providedLikely pathogenic
(Apr 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr11:111959696
GRCh38:
Chr11:112088972
SDHDMitochondrial complex II deficiency, Fatal infantile mitochondrial cardiomyopathyPathogenic
(May 26, 2015)
no assertion criteria provided
29.
GRCh37:
Chr11:111959698-111959700
GRCh38:
Chr11:112088974-112088976
SDHDParagangliomas 1Pathogenic
(Jul 1, 2001)
no assertion criteria provided
30.
GRCh37:
Chr11:111959705
GRCh38:
Chr11:112088981
SDHDHereditary Paraganglioma-Pheochromocytoma SyndromesPathogenic
(Aug 30, 2012)
no assertion criteria provided
31.
GRCh37:
Chr11:111959719-111959722
GRCh38:
Chr11:112088995-112088998
SDHDHereditary cancer-predisposing syndromePathogenic
(Oct 15, 2014)
criteria provided, single submitter
32.
GRCh37:
Chr11:111959725
GRCh38:
Chr11:112089001
SDHDHereditary cancer-predisposing syndromeLikely pathogenic
(Jul 29, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr11:111959726
GRCh38:
Chr11:112089002
SDHDParagangliomas 1Pathogenic
(Feb 4, 2000)
no assertion criteria provided
34.
GRCh37:
Chr11:111959735
GRCh38:
Chr11:112089011
SDHDHereditary cancer-predisposing syndromePathogenic
(Dec 15, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr11:111965529
GRCh38:
Chr11:112094805
SDHDPheochromocytoma, Paragangliomas 1Pathogenic
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr11:111965539
GRCh38:
Chr11:112094815
SDHDPheochromocytoma, Paragangliomas 1, Hereditary cancer-predisposing syndrome
Pathogenic
(Nov 16, 2016)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr11:111965551-111965554
GRCh38:
Chr11:112094827-112094830
SDHDParagangliomas 1, not providedPathogenic
(Dec 22, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr11:111965551-111965552
GRCh38:
Chr11:112094827-112094828
SDHDParagangliomas 1Pathogenic
(May 15, 2001)
no assertion criteria provided
39.
GRCh37:
Chr11:111965554
GRCh38:
Chr11:112094830
SDHDHereditary cancer-predisposing syndromeLikely pathogenic
(May 12, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr11:111965555
GRCh38:
Chr11:112094831
SDHDParagangliomas 1, Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 26, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:111965566
GRCh38:
Chr11:112094842
SDHDHereditary cancer-predisposing syndromePathogenic
(Feb 5, 2013)
criteria provided, single submitter
42.
GRCh37:
Chr11:111965575
GRCh38:
Chr11:112094851
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1
Likely pathogenic
(Mar 5, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr11:111965600
GRCh38:
Chr11:112094876
SDHDPheochromocytomaLikely pathogenic
(Jan 1, 2016)
no assertion criteria provided
44.
GRCh37:
Chr11:111965602
GRCh38:
Chr11:112094878
SDHDHereditary cancer-predisposing syndromePathogenic
(Jul 12, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr11:111965608
GRCh38:
Chr11:112094884
SDHDPheochromocytoma, Paragangliomas 1Likely pathogenic
(Jul 31, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr11:111965626
GRCh38:
Chr11:112094902
SDHDnot provided, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Oct 31, 2016)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr11:111965630
GRCh38:
Chr11:112094906
SDHDParagangliomas 1, Hereditary Paraganglioma-Pheochromocytoma SyndromesPathogenic
(Aug 30, 2012)
no assertion criteria provided
48.
GRCh37:
Chr11:111965647
GRCh38:
Chr11:112094923
SDHDCowden syndrome 3Pathogenic
(Aug 1, 2008)
no assertion criteria provided
49.
GRCh37:
Chr11:111965657
GRCh38:
Chr11:112094933
SDHDParagangliomas 1Pathogenic
(May 15, 2001)
no assertion criteria provided
50.
GRCh37:
Chr11:111965677
GRCh38:
Chr11:112094953
SDHDParagangliomas 1Pathogenic
(Jan 1, 2004)
no assertion criteria provided
51.
GRCh37:
Chr11:111965693
GRCh38:
Chr11:112094969
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Mitochondrial complex II deficiency,
Paragangliomas 1, not specified, Cowden syndrome 3
Conflicting interpretations of pathogenicity
(Oct 20, 2016)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr11:111957548-111966525
GRCh38:
Chr11:112086824-112095801
SDHDPheochromocytoma, Paragangliomas 1Pathogenic
(Jun 1, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr11:111965980-111966081
GRCh38:
Chr11:112095256-112095357
SDHDHereditary Paraganglioma-Pheochromocytoma SyndromesLikely pathogenic
(Jan 15, 2013)
criteria provided, single submitter
54.
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, OR8G2P, 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, VSIG10L2, C11orf53, PLET1, LOC387810, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, C11orf87, COLCA1, C11orf88, MIR100HG, PATE2, PATE4, GSEC, 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, PGR-AS1, 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, LINC02098
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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