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Items: 93

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:61197569
GRCh38:
Chr11:61430097
SDHAF2not specifiedLikely benign
(Nov 24, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr11:61205332
GRCh38:
Chr11:61437860
SDHAF2not specifiedLikely benign
(Nov 24, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr11:61197608
GRCh38:
Chr11:61430136
SDHAF2not specifiedLikely benign
(Mar 20, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr11:61197625
GRCh38:
Chr11:61430153
SDHAF2Hereditary cancer-predisposing syndromeUncertain significance
(Mar 12, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr11:61205213
GRCh38:
Chr11:61437741
SDHAF2Hereditary cancer-predisposing syndromeLikely benign
(Jun 1, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr11:61205545
GRCh38:
Chr11:61438073
SDHAF2Hereditary cancer-predisposing syndromeLikely benign
(Jun 13, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr11:61205575
GRCh38:
Chr11:61438103
SDHAF2Hereditary cancer-predisposing syndromeLikely benign
(Apr 25, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr11:61197624
GRCh38:
Chr11:61430152
SDHAF2Hereditary cancer-predisposing syndromeLikely benign
(Jun 13, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr11:61213456
GRCh38:
Chr11:61445984
SDHAF2Hereditary cancer-predisposing syndromeLikely benign
(Jul 11, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr11:61197642
GRCh38:
Chr11:61430170
SDHAF2Hereditary cancer-predisposing syndromeLikely benign
(Jul 7, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr11:61205323
GRCh38:
Chr11:61437851
SDHAF2Hereditary cancer-predisposing syndromeUncertain significance
(Dec 1, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr11:61205199
GRCh38:
Chr11:61437727
SDHAF2Hereditary cancer-predisposing syndromeUncertain significance
(Jan 4, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr11:61213409
GRCh38:
Chr11:61445937
SDHAF2not specified, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Dec 29, 2017)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr11:61205097
GRCh38:
Chr11:61437625
SDHAF2Hereditary cancer-predisposing syndromeUncertain significance
(Apr 7, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr11:61213461
GRCh38:
Chr11:61445989
SDHAF2Hereditary cancer-predisposing syndromeUncertain significance
(Feb 22, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr11:61205585
GRCh38:
Chr11:61438113
SDHAF2Hereditary cancer-predisposing syndromeUncertain significance
(Feb 20, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr11:61197624
GRCh38:
Chr11:61430152
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeLikely benign
(Jun 15, 2017)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr11:61213539
GRCh38:
Chr11:61446067
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Jul 18, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr11:61213538
GRCh38:
Chr11:61446066
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeUncertain significance
(Jun 8, 2017)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr11:61213507
GRCh38:
Chr11:61446035
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesLikely benign
(Jun 15, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr11:61213506
GRCh38:
Chr11:61446034
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Jan 9, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr11:61213425
GRCh38:
Chr11:61445953
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Jul 31, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr11:61205090
GRCh38:
Chr11:61437618
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesLikely benign
(May 31, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr11:61197650
GRCh38:
Chr11:61430178
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2017)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:61205535
GRCh38:
Chr11:61438063
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Jul 16, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr11:61205528
GRCh38:
Chr11:61438056
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Mar 30, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr11:61205479
GRCh38:
Chr11:61438007
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesLikely benign
(Mar 16, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr11:61205321
GRCh38:
Chr11:61437849
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesLikely pathogenic
(Mar 21, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr11:61197643
GRCh38:
Chr11:61430171
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(May 4, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr11:61205308
GRCh38:
Chr11:61437836
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr11:61205300
GRCh38:
Chr11:61437828
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesLikely benign
(Apr 26, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr11:61205216
GRCh38:
Chr11:61437744
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesLikely benign
(May 24, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr11:61205169
GRCh38:
Chr11:61437697
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Jan 16, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr11:61205593
GRCh38:
Chr11:61438121
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesLikely benign
(Feb 15, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr11:230616-134938470
ACAT1, ACP2, ACRV1, ACTN3, ADM, GRK2, AP2A2, APLNR, ALDH3B1, ALDH3B2, AMPD3, APBB1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, RHOG, ARHGAP1, PHOX2A, ARL2, ARNTL, ARRB1, ART1, ASCL2, ATM, FXYD2, BAD, BBS1, CCND1, BDNF, CXCR5, SERPING1, CAPN5, VPS51, MRPL49, ZNHIT2, MPPED2, MYRF, TMEM258, DAGLA, CALCA, CALCB, CAPN1, CARS, CASP1, CASP4, CASP5, CAT, CBL, SERPINH1, CCKBR, CD3D, CD3E, CD3G, CD5, CD6, MS4A1, MS4A3, CD44, CD59, CD81, CD151, CDKN1C, CFL1, CTSC, CHEK1, CHKA, CHRM1, CHRM4, TPP1, CLNS1A, CNGA4, CNTF, COPB1, COX8A, CPT1A, CRY2, CRYAB, CST6, CSTF3, CTNND1, CTSD, CTSW, DDB1, DDB2, DDX6, DDX10, DHCR7, DLAT, DLG2, DPAGT1, DRD2, DRD4, DUSP8, EEF1G, EIF4G2, ELF5, MARK2, CTTN, ESRRA, ETS1, EXT2, F2, FANCF, FAU, MS4A2, FDX1, FEN1, FGF3, FGF4, FKBP2, FLI1, FOLH1, FOLR1, FOLR2, FOLR3, FSHB, FTH1, FUT4, SLC37A4, LRRC32, GAS2, GIF, GNG3, GRIA4, GRIK4, GRM5, GSTP1, GTF2H1, GUCY1A2, H2AFX, HBB, HBD, HBE1, HBG1, HBG2, HMBS, SLC29A2, HPX, HRAS, HSPA8, HSPB2, DNAJC4, HTR3A, IGF2, IGHMBP2, IL10RA, IL18, ILK, INCENP, INS, INPPL1, IRF7, STT3A, CD82, KCNA4, KCNC1, KCNJ1, KCNJ5, KCNJ11, KCNQ1, KRTAP5-9, LDHA, LDHC, FADS1, FADS3, LMO1, LMO2, VWA5A, LRP4, LRP5, LSP1, LTBP3, CAPRIN1, MAP6, MCAM, MDK, MEN1, SCGB2A1, SCGB2A2, MAP3K11, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, MUC2, MUC5AC, MUC6, MYBPC3, MYO7A, MYOD1, NAP1L4, NCAM1, NDUFC2, NDUFS3, NDUFV1, NDUFS8, NELL1, NFRKB, NNMT, NPAT, NRGN, NUCB2, NUMA1, NUP98, OMP, OPCML, SLC22A18, SLC22A18AS, OSBP, OVOL1, P2RX3, P2RY2, P2RY6, PAFAH1B2, PAK1, PAX6, PC, PDE2A, PDE3B, PGA5, PGR, PIK3C2A, PLCB3, POLR2G, POLR2L, POU2AF1, PPP1CA, PPP2R1B, PPP2R5B, PRCP, PRG2, THAP12, PSMA1, PSMC3, PSMD13, PTH, PTPRCAP, PTPRJ, PTS, NECTIN1, PYGM, RAB3IL1, RAB6A, MAP4K2, RAD9A, RAG1, RAG2, RAPSN, RARRES3, RBM4, RCN1, RDX, RELA, DPF2, RNH1, SNORD15A, ROM1, MRPL23, RPL27A, RPLP2, RPS3, RPS6KB2, RPS13, RPS25, RRM1, SAA1, SAA2, SAA4, SC5D, SCN2B, SCN4B, SCT, SDHD, ST3GAL4, SIPA1, SLC1A2, SLC3A2, SLN, SMPD1, SORL1, SPI1, SPTBN2, SRPRA, TRIM21, SSRP1, ST5, ST14, STIM1, STX3, STX5, ABCC8, TAGLN, TAF10, TALDO1, TCN1, TEAD1, TECTA, TH, THRSP, THY1, TSPAN4, TM7SF2, TNNI2, TNNT3, TPH1, TRAF6, TRPC6, TSG101, PHLDA2, TUB, TYR, UCP2, UCP3, SCGB1A1, UPK2, UVRAG, VEGFB, BEST1, WEE1, WNT11, WT1, SF1, ZFPL1, ZNF143, ZBTB16, ZNF195, ZNF202, ZNF214, ZNF215, RASSF7, CSRP3, PDHX, FOSL1, CUL5, PICALM, FZD4, BBOX1, PPFIBP2, PPFIA1, SLC43A1, IFITM1, DGKZ, CHST1, BARX2, API5, MADD, OR6A2, DCHS1, EIF3F, JRKL, CTSF, EED, FADD, BANF1, ZPR1, MTMR2, RPS6KA4, BRSK2, AIP, SYT7, SART1, USP2, SLC6A5, FIBP, PCSK7, HTR3B, ZW10, MTA2, UBE2L6, SNORD29, SNORD31, SNORD30, SNORD28, SNORD27, SNORD26, SNORD25, SNORD22, MMP20, UBE4A, SLC22A6, SLC22A8, NRXN2, LPXN, PEX16, FADS2, MED17, MAPK8IP1, TP53I11, EI24, PITPNM1, RIN1, TESMIN, FEZ1, MICAL2, CTR9, CEP57, ARHGAP32, ATG13, SPCS2, CKAP5, ARHGEF17, GAB2, C2CD2L, TRIM66, FCHSD2, FGF19, CCS, RCE1, NAALAD2, NAALADL1, KCNE3, NR1H3, IL18BP, DPP3, TSPAN32, TSSC4, USH1C, KCNK7, HIPK3, RBM7, PRMT3, MPZL2, RASGRP2, GLYAT, CDK2AP2, TCIRG1, RTN3, MRVI1, TRIM22, PRG3, IFITM3, YAP1, SPON1, RBM14, CDC42EP2, EIF3M, NXF1, DEAF1, KAT5, HYOU1, IPO7, SSSCA1, HTATIP2, IFITM2, DRAP1, TRIM3, TAF6L, ATP5MG, SCGB1D2, SCGB1D1, CELF1, POLD3, OR5I1, STARD10, NEU3, ME3, GPR83, LYVE1, YIF1A, SRSF8, EHD1, C11orf58, STIP1, CLP1, KCNQ1OT1, SF3B2, CCDC85B, B4GAT1, ADAMTS8, PRSS23, PLA2G16, TREH, PKP3, HPS5, PTGDR2, SLCO2B1, RRAS2, CEP164, ZP1, SHANK2, KDM2A, IGSF9B, ENDOD1, SWAP70, EXPH5, ATG2A, PHLDB1, GANAB, FAM168A, DTX4, SIK2, DENND5A, NUP160, NCAPD3, FNBP4, ARHGEF12, RRP8, SIK3, SIRT3, CLCF1, OR52A1, VSIG2, BACE1, FAM89B, SNHG1, ARFIP2, POLA2, TRIM29, RAB38, CADM1, FLRT1, MTCH2, PANX1, FJX1, KIAA1549L, PRDX5, POU2F3, ABTB2, BRMS1, CATSPERZ, CHRDL2, PAMR1, ANAPC15, ZDHHC5, ATL3, TSKU, HINFP, REXO2, C2CD3, TKFC, TENM4, B3GAT3, FBXO3, SERGEF, EHF, OR5L2, PPP1R14B, OR8G2P, OR8B8, OR8G1, OR10A3, TIMM10B, TIMM10, TIMM8B, MYEOV, BSCL2, OR8B2, ELP4, CHORDC1, ACAD8, B3GAT1, DKK3, RBMXL2, RAB30, PGAP2, PRPF19, DCPS, C11orf54, AAMDC, MACROD1, SLC43A3, ZBTB44, THYN1, COMMD9, DDX25, C11orf21, PACSIN3, TRPM5, SAC3D1, SNX15, RHOD, EFEMP2, NOX4, UBQLN3, KCNK4, RNF141, NTM, CDON, UBXN1, APIP, TMX2, GAL, SIDT2, KMT5B, HSD17B12, IGF2-AS, TMEM216, CEND1, COA4, SLC15A3, PHF21A, MS4A4A, WT1-AS, TRAPPC4, PPME1, CABP2, HIKESHI, CWC15, TRMT112, TMEM138, PCF11, MRPL48, CYB5R2, RSF1, SPA17, FXYD6, C11orf24, TRIM34, CDHR5, CNTN5, SIAE, TOLLIP, C11orf71, ZDHHC13, ROBO4, WDR74, SLC35F2, RAB39A, TRIM44, BTG4, NXPE4, SYTL2, ANKRD49, MS4A12, MRPL16, SDHAF2, SSH3, TTC12, TMEM132A, HRASLS2, LAMTOR1, USP47, VPS37C, ANO1, TRIM68, NADSYN1, FAM86C1, NKAPD1, NAT10, CCDC87, PPP6R3, UEVLD, RNF121, LIN7C, ACER3, SLC35C1, TCP11L1, LGR4, PIDD1, ELMOD1, KCNQ1DN, SOX6, CDC42BPG, FOXRED1, OTUB1, AMBRA1, PACS1, KDM4D, KBTBD4, PARVA, TTC17, SCN3B, VPS11, TMEM126B, SLC22A11, TEX12, CRTAM, MMP26, TMPRSS4, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, GPR137, IFT46, SMCO4, EMSY, PRDM10, PRDM11, CABP4, CHRNA10, SLC17A6, TRIM49, PNPLA2, CD248, CORO1B, SCYL1, DSCAML1, GRAMD1B, USP35, CEP126, ARHGAP20, CARNS1, SYT13, USP28, PHRF1, LRRC4C, SCUBE2, POLD4, KRTAP5-8, PLEKHB1, MS4A7, ZBED5, CREBZF, CARD18, SIGIRR, CCDC90B, CCDC81, AASDHPPT, ALX4, MRPL17, PKNOX2, FAM111A, TP53AIP1, ANO3, MMP27, ABCG4, ROBO3, MS4A6A, MS4A5, C11orf1, EPS8L2, KLC2, TUT1, MRPL11, TMEM135, STK33, KCTD14, C11orf95, CHID1, LRFN4, AHNAK, ALG8, PRRG4, TMEM223, TMEM109, CCDC86, LBHD1, C11orf49, TRIM48, TAF1D, RNF26, OR51G1, OR51B4, OR51B2, OR52N1, FAM118B, RIC3, DYNC2H1, NLRX1, MSANTD2, C11orf80, NARS2, E2F8, SLC25A22, CCDC82, ALG9, ZNF408, CLMP, NAA40, QSER1, AGBL2, ZBTB3, PDZD3, JHY, CPSF7, PRR5L, CCDC15, ASRGL1, PGGHG, MOGAT2, TMEM134, MUS81, PAAF1, PDGFD, INTS5, ZFP91, TMPRSS5, OR8J3, OR51G2, OR51E2, OR4P4, OR4C15, OR4A5, OR4A16, OR4A15, OR10W1, PTDSS2, MOB2, GDPD5, CLPB, UNC93B1, SBF2, RAB1B, KIF18A, PUS3, MFRP, C11orf68, MS4A8, JAM3, FERMT3, TRPT1, RBM4B, FRMD8, BCO2, TMEM133, TMPRSS13, FAM160A2, RNASEH2C, FAR1, TMEM126A, DCUN1D5, BTBD10, EIF1AD, NUDT22, ARFGAP2, MSANTD4, MAML2, SYVN1, KIRREL3, DGAT2, ACCS, MS4A14, TRIM51, BUD13, TMEM25, PTPN5, RPUSD4, TBRG1, MICALCL, RELT, UBASH3B, CFAP300, LGALS12, TRIM5, TNKS1BP1, DIXDC1, CEP295, ZC3H12C, GAL3ST3, NAV2, ATG16L2, GLB1L2, SYT8, TSPAN18, ESAM, CREB3L1, AP5B1, CCDC34, SLC39A13, DEPDC7, SYT12, ACY3, ALKBH8, FDXACB1, C11orf52, INTS4, GLYATL1, CAVIN3, VPS26B, GLB1L3, CDCA5, SAAL1, SLC22A9, TIRAP, CARD16, OSBPL5, C1QTNF4, C1QTNF5, TMEM123, PTPMT1, LRRC56, BATF2, SLC22A12, PANX3, MRGPRD, APOA5, MRGPRE, MRGPRF, ART5, ARAP1, CATSPER1, MRGPRX2, MRGPRX3, MRGPRX4, HRASLS5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, C11orf74, OR4C46, OR4X2, OR4B1, OR52M1, OR52K2, OR5P2, OR5P3, LARGE2, SLC36A4, FAT3, TRIM64, TMEM45B, CYP2R1, DBX1, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, DNAJC24, ARL14EP, OR8I2, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OR52B4, C11orf40, OR52I2, OR51E1, XRRA1, UBQLNL, MUC15, C11orf94, FAM76B, SESN3, PIWIL4, ARHGAP42, KBTBD3, CWF19L2, KDELC2, LAYN, TTC36, SPINDOC, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, AMOTL1, SLC5A12, DEUP1, PATE1, C11orf65, LDHAL6A, C11orf42, GPHA2, ADAMTS15, NLRP6, B3GNT6, METTL15, MPZL3, IMMP1L, OR56B4, ANO5, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, LRRC55, SMTNL1, YPEL4, MED19, FOLH1B, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, MRPL21, TPCN2, SPATA19, OR6Q1, OR9I1, OR9Q1, OR9Q2, OR1S2, OR1S1, OR10Q1, OR5B17, OR5B21, GLYATL2, MPEG1, OR5A2, OR5A1, OR4D6, OR4D11, PATL1, OOSP2, MS4A15, VWCE, CYB561A3, PPP1R32, GDPD4, DDIAS, CCDC83, ORAOV1, LRTOMT, HEPACAM, OAF, TIGD3, FAM181B, CCDC89, LRRN4CL, HNRNPUL2, ALKBH3, MS4A6E, DEFB108B, PELI3, ANGPTL5, EHBP1L1, SNX32, TSGA10IP, RNF169, CNIH2, ZDHHC24, C11orf86, NUDT8, ANKK1, OR52B2, OR4C3, OR4S1, LMNTD2, EML3, TMEM151A, OR51F1, RNF214, SVIP, MRGPRX1, NPAS4, SELENOH, AQP11, OR51B5, OR10AG1, OR5J2, OR4C13, OR4C12, CSNK2A3, OR51V1, TRIM49B, H19, MAJIN, SLC25A45, NEAT1, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, C11orf44, OR9G4, P4HA3, PGM2L1, KLHL35, KCTD21, CRACR2B, TMEM80, CCDC88B, TTC9C, SLC22A24, RCOR2, HARBI1, LINC00294, IGSF22, OR10A4, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, CCDC84, TMEM225, OR8D4, OR5F1, OR5AP2, ANKRD13D, ANKRD42, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, C11orf53, MS4A10, OR2AT4, HEPHL1, OR10A2, OVCH2, TBX10, GATD1, PLET1, RTN4RL2, GALNT18, NCR3LG1, FAM111B, TMEM179B, TBC1D10C, DNAJB13, MALAT1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, KRTAP5-10, SLC22A25, IFITM5, OR56B1, INSC, FIBIN, C11orf96, SLC22A10, SPDYC, LIPT2, VSTM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, ACCSL, OR4X1, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2, OR5B2, OR5B12, OR5AN1, OR4D10, OR4D9, OR10V1, LRRC10B, GPR152, TRIM77, IZUMO1R, KDM4E, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, FAM180B, PCNX3, TRIM49D1, C11orf87, C11orf88, PATE2, PATE4, SNX19, OR51T1, OR51A4, OR51A2, IFITM10, OR4A47, SCGB1D4, MIRLET7A2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR34B, MIR34C, DDI1, BLID, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, KRTAP5-7, KRTAP5-11, CARD17, OR5B3, MIR326, CCDC73, BDNF-AS, MS4A13, HEPN1, TRIM64B, TRIM49C, UBTFL1, BTBD18, MS4A4E, PGA3, PGA4, CLDN25, RASSF10, LOC646522, TRIM64C, SNORA3B, LOC692247, MIR610, INS-IGF2, MUC5B, LOC728196, MS4A18, LOC729305, TRIM49D2, CSKMT, UQCC3, LOC100128088, C11orf91, ZNF705E, LOC100132686, PATE3, LOC100287837, BACE1-AS, MTRNR2L8, CCDC179, C11orf72, ARAP1-AS2, MIR210HG, CASP12, TPBGL, RBM14-RBM4, SAA2-SAA4, NDUFC2-KCTD14, FXYD6-FXYD2, LOC101928943, LOC101929473
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
36.
GRCh37:
Chr11:230616-134938470
ACAT1, ACP2, ACRV1, ACTN3, ADM, GRK2, AP2A2, APLNR, ALDH3B1, ALDH3B2, AMPD3, APBB1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, RHOG, ARHGAP1, PHOX2A, ARL2, ARNTL, ARRB1, ART1, ASCL2, ATM, FXYD2, BAD, BBS1, CCND1, BDNF, CXCR5, SERPING1, CAPN5, VPS51, MRPL49, ZNHIT2, MPPED2, MYRF, TMEM258, DAGLA, CALCA, CALCB, CAPN1, CARS, CASP1, CASP4, CASP5, CAT, CBL, SERPINH1, CCKBR, CD3D, CD3E, CD3G, CD5, CD6, MS4A1, MS4A3, CD44, CD59, CD81, CD151, CDKN1C, CFL1, CTSC, CHEK1, CHKA, CHRM1, CHRM4, TPP1, CLNS1A, CNGA4, CNTF, COPB1, COX8A, CPT1A, CRY2, CRYAB, CST6, CSTF3, CTNND1, CTSD, CTSW, DDB1, DDB2, DDX6, DDX10, DHCR7, DLAT, DLG2, DPAGT1, DRD2, DRD4, DUSP8, EEF1G, EIF4G2, ELF5, MARK2, CTTN, ESRRA, ETS1, EXT2, F2, FANCF, FAU, MS4A2, FDX1, FEN1, FGF3, FGF4, FKBP2, FLI1, FOLH1, FOLR1, FOLR2, FOLR3, FSHB, FTH1, FUT4, SLC37A4, LRRC32, GAS2, GIF, GNG3, GRIA4, GRIK4, GRM5, GSTP1, GTF2H1, GUCY1A2, H2AFX, HBB, HBD, HBE1, HBG1, HBG2, HMBS, SLC29A2, HPX, HRAS, HSPA8, HSPB2, DNAJC4, HTR3A, IGF2, IGHMBP2, IL10RA, IL18, ILK, INCENP, INS, INPPL1, IRF7, STT3A, CD82, KCNA4, KCNC1, KCNJ1, KCNJ5, KCNJ11, KCNQ1, KRTAP5-9, LDHA, LDHC, FADS1, FADS3, LMO1, LMO2, VWA5A, LRP4, LRP5, LSP1, LTBP3, CAPRIN1, MAP6, MCAM, MDK, MEN1, SCGB2A1, SCGB2A2, MAP3K11, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, MUC2, MUC5AC, MUC6, MYBPC3, MYO7A, MYOD1, NAP1L4, NCAM1, NDUFC2, NDUFS3, NDUFV1, NDUFS8, NELL1, NFRKB, NNMT, NPAT, NRGN, NUCB2, NUMA1, NUP98, OMP, OPCML, SLC22A18, SLC22A18AS, OSBP, OVOL1, P2RX3, P2RY2, P2RY6, PAFAH1B2, PAK1, PAX6, PC, PDE2A, PDE3B, PGA5, PGR, PIK3C2A, PLCB3, POLR2G, POLR2L, POU2AF1, PPP1CA, PPP2R1B, PPP2R5B, PRCP, PRG2, THAP12, PSMA1, PSMC3, PSMD13, PTH, PTPRCAP, PTPRJ, PTS, NECTIN1, PYGM, RAB3IL1, RAB6A, MAP4K2, RAD9A, RAG1, RAG2, RAPSN, RARRES3, RBM4, RCN1, RDX, RELA, DPF2, RNH1, SNORD15A, ROM1, MRPL23, RPL27A, RPLP2, RPS3, RPS6KB2, RPS13, RPS25, RRM1, SAA1, SAA2, SAA4, SC5D, SCN2B, SCN4B, SCT, SDHD, ST3GAL4, SIPA1, SLC1A2, SLC3A2, SLN, SMPD1, SORL1, SPI1, SPTBN2, SRPRA, TRIM21, SSRP1, ST5, ST14, STIM1, STX3, STX5, ABCC8, TAGLN, TAF10, TALDO1, TCN1, TEAD1, TECTA, TH, THRSP, THY1, TSPAN4, TM7SF2, TNNI2, TNNT3, TPH1, TRAF6, TRPC6, TSG101, PHLDA2, TUB, TYR, UCP2, UCP3, SCGB1A1, UPK2, UVRAG, VEGFB, BEST1, WEE1, WNT11, WT1, SF1, ZFPL1, ZNF143, ZBTB16, ZNF195, ZNF202, ZNF214, ZNF215, RASSF7, CSRP3, PDHX, FOSL1, CUL5, PICALM, FZD4, BBOX1, PPFIBP2, PPFIA1, SLC43A1, IFITM1, DGKZ, CHST1, BARX2, API5, MADD, OR6A2, DCHS1, EIF3F, JRKL, CTSF, EED, FADD, BANF1, ZPR1, MTMR2, RPS6KA4, BRSK2, AIP, SYT7, SART1, USP2, SLC6A5, FIBP, PCSK7, HTR3B, ZW10, MTA2, UBE2L6, SNORD29, SNORD31, SNORD30, SNORD28, SNORD27, SNORD26, SNORD25, SNORD22, MMP20, UBE4A, SLC22A6, SLC22A8, NRXN2, LPXN, PEX16, FADS2, MED17, MAPK8IP1, TP53I11, EI24, PITPNM1, RIN1, TESMIN, FEZ1, MICAL2, CTR9, CEP57, ARHGAP32, ATG13, SPCS2, CKAP5, ARHGEF17, GAB2, C2CD2L, TRIM66, FCHSD2, FGF19, CCS, RCE1, NAALAD2, NAALADL1, KCNE3, NR1H3, IL18BP, DPP3, TSPAN32, TSSC4, USH1C, KCNK7, HIPK3, RBM7, PRMT3, MPZL2, RASGRP2, GLYAT, CDK2AP2, TCIRG1, RTN3, MRVI1, TRIM22, PRG3, IFITM3, YAP1, SPON1, RBM14, CDC42EP2, EIF3M, NXF1, DEAF1, KAT5, HYOU1, IPO7, SSSCA1, HTATIP2, IFITM2, DRAP1, TRIM3, TAF6L, ATP5MG, SCGB1D2, SCGB1D1, CELF1, POLD3, OR5I1, STARD10, NEU3, ME3, GPR83, LYVE1, YIF1A, SRSF8, EHD1, C11orf58, STIP1, CLP1, KCNQ1OT1, SF3B2, CCDC85B, B4GAT1, ADAMTS8, PRSS23, PLA2G16, TREH, PKP3, HPS5, PTGDR2, SLCO2B1, RRAS2, CEP164, ZP1, SHANK2, KDM2A, IGSF9B, ENDOD1, SWAP70, EXPH5, ATG2A, PHLDB1, GANAB, FAM168A, DTX4, SIK2, DENND5A, NUP160, NCAPD3, FNBP4, ARHGEF12, RRP8, SIK3, SIRT3, CLCF1, OR52A1, VSIG2, BACE1, FAM89B, SNHG1, ARFIP2, POLA2, TRIM29, RAB38, CADM1, FLRT1, MTCH2, PANX1, FJX1, KIAA1549L, PRDX5, POU2F3, ABTB2, BRMS1, CATSPERZ, CHRDL2, PAMR1, ANAPC15, ZDHHC5, ATL3, TSKU, HINFP, REXO2, C2CD3, TKFC, TENM4, B3GAT3, FBXO3, SERGEF, EHF, OR5L2, PPP1R14B, OR8G2P, OR8B8, OR8G1, OR10A3, TIMM10B, TIMM10, TIMM8B, MYEOV, BSCL2, OR8B2, ELP4, CHORDC1, ACAD8, B3GAT1, DKK3, RBMXL2, RAB30, PGAP2, PRPF19, DCPS, C11orf54, AAMDC, MACROD1, SLC43A3, ZBTB44, THYN1, COMMD9, DDX25, C11orf21, PACSIN3, TRPM5, SAC3D1, SNX15, RHOD, EFEMP2, NOX4, UBQLN3, KCNK4, RNF141, NTM, CDON, UBXN1, APIP, TMX2, GAL, SIDT2, KMT5B, HSD17B12, IGF2-AS, TMEM216, CEND1, COA4, SLC15A3, PHF21A, MS4A4A, WT1-AS, TRAPPC4, PPME1, CABP2, HIKESHI, CWC15, TRMT112, TMEM138, PCF11, MRPL48, CYB5R2, RSF1, SPA17, FXYD6, C11orf24, TRIM34, CDHR5, CNTN5, SIAE, TOLLIP, C11orf71, ZDHHC13, ROBO4, WDR74, SLC35F2, RAB39A, TRIM44, BTG4, NXPE4, SYTL2, ANKRD49, MS4A12, MRPL16, SDHAF2, SSH3, TTC12, TMEM132A, HRASLS2, LAMTOR1, USP47, VPS37C, ANO1, TRIM68, NADSYN1, FAM86C1, NKAPD1, NAT10, CCDC87, PPP6R3, UEVLD, RNF121, LIN7C, ACER3, SLC35C1, TCP11L1, LGR4, PIDD1, ELMOD1, KCNQ1DN, SOX6, CDC42BPG, FOXRED1, OTUB1, AMBRA1, PACS1, KDM4D, KBTBD4, PARVA, TTC17, SCN3B, VPS11, TMEM126B, SLC22A11, TEX12, CRTAM, MMP26, TMPRSS4, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, GPR137, IFT46, SMCO4, EMSY, PRDM10, PRDM11, CABP4, CHRNA10, SLC17A6, TRIM49, PNPLA2, CD248, CORO1B, SCYL1, DSCAML1, GRAMD1B, USP35, CEP126, ARHGAP20, CARNS1, SYT13, USP28, PHRF1, LRRC4C, SCUBE2, POLD4, KRTAP5-8, PLEKHB1, MS4A7, ZBED5, CREBZF, CARD18, SIGIRR, CCDC90B, CCDC81, AASDHPPT, ALX4, MRPL17, PKNOX2, FAM111A, TP53AIP1, ANO3, MMP27, ABCG4, ROBO3, MS4A6A, MS4A5, C11orf1, EPS8L2, KLC2, TUT1, MRPL11, TMEM135, STK33, KCTD14, C11orf95, CHID1, LRFN4, AHNAK, ALG8, PRRG4, TMEM223, TMEM109, CCDC86, LBHD1, C11orf49, TRIM48, TAF1D, RNF26, OR51G1, OR51B4, OR51B2, OR52N1, FAM118B, RIC3, DYNC2H1, NLRX1, MSANTD2, C11orf80, NARS2, E2F8, SLC25A22, CCDC82, ALG9, ZNF408, CLMP, NAA40, QSER1, AGBL2, ZBTB3, PDZD3, JHY, CPSF7, PRR5L, CCDC15, ASRGL1, PGGHG, MOGAT2, TMEM134, MUS81, PAAF1, PDGFD, INTS5, ZFP91, TMPRSS5, OR8J3, OR51G2, OR51E2, OR4P4, OR4C15, OR4A5, OR4A16, OR4A15, OR10W1, PTDSS2, MOB2, GDPD5, CLPB, UNC93B1, SBF2, RAB1B, KIF18A, PUS3, MFRP, C11orf68, MS4A8, JAM3, FERMT3, TRPT1, RBM4B, FRMD8, BCO2, TMEM133, TMPRSS13, FAM160A2, RNASEH2C, FAR1, TMEM126A, DCUN1D5, BTBD10, EIF1AD, NUDT22, ARFGAP2, MSANTD4, MAML2, SYVN1, KIRREL3, DGAT2, ACCS, MS4A14, TRIM51, BUD13, TMEM25, PTPN5, RPUSD4, TBRG1, MICALCL, RELT, UBASH3B, CFAP300, LGALS12, TRIM5, TNKS1BP1, DIXDC1, CEP295, ZC3H12C, GAL3ST3, NAV2, ATG16L2, GLB1L2, SYT8, TSPAN18, ESAM, CREB3L1, AP5B1, CCDC34, SLC39A13, DEPDC7, SYT12, ACY3, ALKBH8, FDXACB1, C11orf52, INTS4, GLYATL1, CAVIN3, VPS26B, GLB1L3, CDCA5, SAAL1, SLC22A9, TIRAP, CARD16, OSBPL5, C1QTNF4, C1QTNF5, TMEM123, PTPMT1, LRRC56, BATF2, SLC22A12, PANX3, MRGPRD, APOA5, MRGPRE, MRGPRF, ART5, ARAP1, CATSPER1, MRGPRX2, MRGPRX3, MRGPRX4, HRASLS5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, C11orf74, OR4C46, OR4X2, OR4B1, OR52M1, OR52K2, OR5P2, OR5P3, LARGE2, SLC36A4, FAT3, TRIM64, TMEM45B, CYP2R1, DBX1, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, DNAJC24, ARL14EP, OR8I2, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OR52B4, C11orf40, OR52I2, OR51E1, XRRA1, UBQLNL, MUC15, C11orf94, FAM76B, SESN3, PIWIL4, ARHGAP42, KBTBD3, CWF19L2, KDELC2, LAYN, TTC36, SPINDOC, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, AMOTL1, SLC5A12, DEUP1, PATE1, C11orf65, LDHAL6A, C11orf42, GPHA2, ADAMTS15, NLRP6, B3GNT6, METTL15, MPZL3, IMMP1L, OR56B4, ANO5, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, LRRC55, SMTNL1, YPEL4, MED19, FOLH1B, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, MRPL21, TPCN2, SPATA19, OR6Q1, OR9I1, OR9Q1, OR9Q2, OR1S2, OR1S1, OR10Q1, OR5B17, OR5B21, GLYATL2, MPEG1, OR5A2, OR5A1, OR4D6, OR4D11, PATL1, OOSP2, MS4A15, VWCE, CYB561A3, PPP1R32, GDPD4, DDIAS, CCDC83, ORAOV1, LRTOMT, HEPACAM, OAF, TIGD3, FAM181B, CCDC89, LRRN4CL, HNRNPUL2, ALKBH3, MS4A6E, DEFB108B, PELI3, ANGPTL5, EHBP1L1, SNX32, TSGA10IP, RNF169, CNIH2, ZDHHC24, C11orf86, NUDT8, ANKK1, OR52B2, OR4C3, OR4S1, LMNTD2, EML3, TMEM151A, OR51F1, RNF214, SVIP, MRGPRX1, NPAS4, SELENOH, AQP11, OR51B5, OR10AG1, OR5J2, OR4C13, OR4C12, CSNK2A3, OR51V1, TRIM49B, H19, MAJIN, SLC25A45, NEAT1, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, C11orf44, OR9G4, P4HA3, PGM2L1, KLHL35, KCTD21, CRACR2B, TMEM80, CCDC88B, TTC9C, SLC22A24, RCOR2, HARBI1, LINC00294, IGSF22, OR10A4, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, CCDC84, TMEM225, OR8D4, OR5F1, OR5AP2, ANKRD13D, ANKRD42, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, C11orf53, MS4A10, OR2AT4, HEPHL1, OR10A2, OVCH2, TBX10, GATD1, PLET1, RTN4RL2, GALNT18, NCR3LG1, FAM111B, TMEM179B, TBC1D10C, DNAJB13, MALAT1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, KRTAP5-10, SLC22A25, IFITM5, OR56B1, INSC, FIBIN, C11orf96, SLC22A10, SPDYC, LIPT2, VSTM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, ACCSL, OR4X1, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2, OR5B2, OR5B12, OR5AN1, OR4D10, OR4D9, OR10V1, LRRC10B, GPR152, TRIM77, IZUMO1R, KDM4E, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, FAM180B, PCNX3, TRIM49D1, C11orf87, C11orf88, PATE2, PATE4, SNX19, OR51T1, OR51A4, OR51A2, IFITM10, OR4A47, SCGB1D4, MIRLET7A2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR34B, MIR34C, DDI1, BLID, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, KRTAP5-7, KRTAP5-11, CARD17, OR5B3, MIR326, CCDC73, BDNF-AS, MS4A13, HEPN1, TRIM64B, TRIM49C, UBTFL1, BTBD18, MS4A4E, PGA3, PGA4, CLDN25, RASSF10, LOC646522, TRIM64C, SNORA3B, LOC692247, MIR610, INS-IGF2, MUC5B, LOC728196, MS4A18, LOC729305, TRIM49D2, CSKMT, UQCC3, LOC100128088, C11orf91, ZNF705E, LOC100132686, PATE3, LOC100287837, BACE1-AS, MTRNR2L8, CCDC179, C11orf72, ARAP1-AS2, MIR210HG, CASP12, TPBGL, RBM14-RBM4, SAA2-SAA4, NDUFC2-KCTD14, FXYD6-FXYD2, LOC101928943, LOC101929473
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
37.
GRCh37:
Chr11:61205509
GRCh38:
Chr11:61438037
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesLikely benign
(Jun 16, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr11:61205467
GRCh38:
Chr11:61437995
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesLikely benign
(Dec 13, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr11:61197633
GRCh38:
Chr11:61430161
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeLikely benign
(Aug 19, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr11:61205534
GRCh38:
Chr11:61438062
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeLikely benign
(Jun 15, 2017)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:61197639
GRCh38:
Chr11:61430167
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesLikely benign
(May 20, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr11:61213472
GRCh38:
Chr11:61446000
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeUncertain significance
(Nov 28, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr11:61205546
GRCh38:
Chr11:61438074
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Apr 19, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr11:61197631
GRCh38:
Chr11:61430159
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 6, 2017)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr11:61197620
GRCh38:
Chr11:61430148
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Aug 15, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr11:61213502
GRCh38:
Chr11:61446030
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Nov 2, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr11:61197625
GRCh38:
Chr11:61430153
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 1, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr11:61213427
GRCh38:
Chr11:61445955
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Jan 19, 2017)
criteria provided, single submitter
49.
GRCh37:
Chr11:61213518
GRCh38:
Chr11:61446046
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeUncertain significance
(Sep 7, 2017)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr11:61213411
GRCh38:
Chr11:61445939
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Jun 15, 2017)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr11:61205217
GRCh38:
Chr11:61437745
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Oct 9, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr11:61205281
GRCh38:
Chr11:61437809
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeUncertain significance
(Jun 5, 2017)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr11:61213488-61213489
GRCh38:
Chr11:61446016-61446017
SDHAF2not specifiedUncertain significance
(Mar 1, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr11:61205570
GRCh38:
Chr11:61438098
SDHAF2not specifiedUncertain significance
(Jun 23, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr11:61205578
GRCh38:
Chr11:61438106
SDHAF2not specifiedUncertain significance
(Mar 29, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr11:61197618
GRCh38:
Chr11:61430146
SDHAF2not specified, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Dec 19, 2016)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr11:61205225
GRCh38:
Chr11:61437753
SDHAF2not specified, not providedConflicting interpretations of pathogenicity
(Apr 27, 2017)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr11:61214212
GRCh38:
Chr11:61446740
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr11:61214196
GRCh38:
Chr11:61446724
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr11:61214170
GRCh38:
Chr11:61446698
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr11:61213999
GRCh38:
Chr11:61446527
SDHAF2PheochromocytomaBenign
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr11:61213989
GRCh38:
Chr11:61446517
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr11:61213958
GRCh38:
Chr11:61446486
SDHAF2PheochromocytomaBenign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr11:61213932
GRCh38:
Chr11:61446460
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr11:61213921
GRCh38:
Chr11:61446449
SDHAF2PheochromocytomaBenign
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr11:61213920
GRCh38:
Chr11:61446448
SDHAF2PheochromocytomaBenign
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr11:61213776
GRCh38:
Chr11:61446304
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr11:61213715
GRCh38:
Chr11:61446243
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr11:61213713
GRCh38:
Chr11:61446241
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr11:61213656
GRCh38:
Chr11:61446184
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr11:61213619
GRCh38:
Chr11:61446147
SDHAF2PheochromocytomaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr11:61213601
GRCh38:
Chr11:61446129
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr11:61213592
GRCh38:
Chr11:61446120
SDHAF2PheochromocytomaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr11:61205597
GRCh38:
Chr11:61438125
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr11:61205545
GRCh38:
Chr11:61438073
SDHAF2PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr11:61197671
GRCh38:
Chr11:61430199
SDHAF2not specifiedBenign/Likely benign
(Jun 15, 2017)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr11:61205434
GRCh38:
Chr11:61437962
SDHAF2not specifiedBenigncriteria provided, single submitter
78.
GRCh37:
Chr11:61205123
GRCh38:
Chr11:61437651
SDHAF2Pheochromocytoma, Hereditary Paraganglioma-Pheochromocytoma Syndromes, not specified,
Hereditary cancer-predisposing syndrome
Benign/Likely benign
(Jul 13, 2017)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr11:61213532
GRCh38:
Chr11:61446060
SDHAF2Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Jul 26, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr11:61197664
GRCh38:
Chr11:61430192
SDHAF2Pheochromocytoma, Hereditary Paraganglioma-Pheochromocytoma Syndromes, not specified
Benign/Likely benign
(Aug 15, 2017)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr11:61205299
GRCh38:
Chr11:61437827
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeUncertain significance
(Sep 12, 2017)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr11:61205574
GRCh38:
Chr11:61438102
SDHAF2Hereditary cancer-predisposing syndromeUncertain significance
(Oct 1, 2015)
criteria provided, single submitter
83.
GRCh37:
Chr11:61205524
GRCh38:
Chr11:61438052
SDHAF2Hereditary cancer-predisposing syndromeUncertain significance
(Jun 18, 2015)
criteria provided, single submitter
84.
GRCh37:
Chr11:61205266
GRCh38:
Chr11:61437794
SDHAF2Hereditary cancer-predisposing syndromeUncertain significance
(Apr 2, 2015)
criteria provided, single submitter
85.
GRCh37:
Chr11:61205265
GRCh38:
Chr11:61437793
SDHAF2Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeUncertain significance
(Dec 21, 2016)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr11:61205562
GRCh38:
Chr11:61438090
SDHAF2Hereditary cancer-predisposing syndromeLikely pathogenic
(Oct 19, 2015)
criteria provided, single submitter
87.
GRCh37:
Chr11:61205501
GRCh38:
Chr11:61438029
SDHAF2Hereditary cancer-predisposing syndromeUncertain significance
(Nov 21, 2014)
criteria provided, single submitter
88.
GRCh37:
Chr11:60948809-61284302
GRCh38:
Chr11:61181337-61516830
See casesUncertain significance
(Sep 21, 2012)
no assertion criteria provided
89.
GRCh37:
Chr11:61177001-61588631
GRCh38:
Chr11:61409529-61821159
See casesLikely benign
(Nov 30, 2010)
no assertion criteria provided
90.
GRCh37:
Chr11:61213555
GRCh38:
Chr11:61446083
SDHAF2Pheochromocytoma, not specified, not provided
Conflicting interpretations of pathogenicity
(Oct 17, 2017)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr11:61205157
GRCh38:
Chr11:61437685
SDHAF2Pheochromocytoma, Hereditary Paraganglioma-Pheochromocytoma Syndromes, not specified,
not provided, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Aug 18, 2017)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr11:61205112
GRCh38:
Chr11:61437640
SDHAF2not provided, Hereditary cancer-predisposing syndromeUncertain significance
(Jun 19, 2017)
criteria provided, single submitter
93.
GRCh37:
Chr11:61205292
GRCh38:
Chr11:61437820
SDHAF2Paragangliomas 2, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 6, 2017)
criteria provided, multiple submitters, no conflicts
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