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Items: 45

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:136218782
GRCh38:
Chr9:133351927
SURF1not specifiedGO-ESP:0.00002(G)Likely benign
(Apr 30, 2012)
criteria provided, single submitter
2.
GRCh37:
Chr9:136218788
GRCh38:
Chr9:133351933
SURF1not specifiedLikely benign
(Jul 5, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr9:136218825-136218826
GRCh38:
Chr9:133351970-133351971
SURF1Leigh syndrome, Congenital myasthenic syndrome, acetazolamide-responsive, not provided
GO-ESP:0.00010(-)Pathogenic
(Jan 27, 2017)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr9:136218850
GRCh38:
Chr9:133351995
SURF1not specifiedLikely benign
(Jul 9, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr9:136218903
GRCh38:
Chr9:133352048
SURF1not specifiedLikely benign
(Sep 6, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr9:136218913
GRCh38:
Chr9:133352058
SURF1not specifiedLikely benign
(Jul 19, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr9:136218931-136218936
GRCh38:
Chr9:133352076-133352081
SURF1not providedLikely pathogenic
(Jun 10, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr9:136218956-136218957
GRCh38:
Chr9:133352101-133352102
SURF1not providedGO-ESP:0.00001(-)Pathogenic
(Dec 3, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr9:136218990-136218991
GRCh38:
Chr9:133352135-133352136
SURF1not providedGO-ESP:0.00005(-)Likely pathogenic
(Dec 5, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr9:136219295
GRCh38:
Chr9:133352440
SURF1not specified, not providedGMAF:0.01140(G)
GO-ESP:0.00568(G)
Benign
(Dec 30, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr9:136219296
GRCh38:
Chr9:133352441
SURF1not providedGO-ESP:0.00002(T)Likely pathogenic
(Nov 25, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr9:136219307
GRCh38:
Chr9:133352452
SURF1not specifiedGMAF:0.00020(C)
GO-ESP:0.00030(C)
Likely benign
(May 8, 2013)
criteria provided, single submitter
13.
GRCh37:
Chr9:136219364
GRCh38:
Chr9:133352509
SURF1not providedGO-ESP:0.00017(A)Pathogenic
(Jun 21, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr9:136219371
GRCh38:
Chr9:133352516
SURF1not providedPathogenic
(May 6, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr9:136219395
GRCh38:
Chr9:133352540
SURF1not specifiedLikely benign
(Sep 2, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr9:136219448
GRCh38:
Chr9:133352593
SURF1Leigh syndrome, not specifiedGMAF:0.03340(G)
GO-ESP:0.01330(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr9:136219464
GRCh38:
Chr9:133352609
SURF1not providedPathogenic
(Apr 21, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr9:136219563
GRCh38:
Chr9:133352708
SURF1not provided, Charcot-Marie-Tooth disease, type 4kGO-ESP:0.00001(A)Pathogenic
(Jan 6, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr9:136219564
GRCh38:
Chr9:133352709
SURF1Leigh syndrome, not specifiedGMAF:0.04170(C)
GO-ESP:0.04339(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr9:136219574
GRCh38:
Chr9:133352719
SURF1not providedGO-ESP:0.00017(C)Likely pathogenic
(Oct 1, 2013)
criteria provided, single submitter
21.
GRCh37:
Chr9:136219594
GRCh38:
Chr9:133352739
SURF1Leigh syndrome, not specifiedGMAF:0.04890(A)
GO-ESP:0.02407(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr9:136219602-136219605
GRCh38:
Chr9:133352747-133352750
SURF1not providedPathogenic
(Oct 10, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr9:136219629
GRCh38:
Chr9:133352774
SURF1not specifiedLikely benign
(Nov 3, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr9:136220672
GRCh38:
Chr9:133353817
SURF1not specifiedLikely benign
(Nov 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr9:136220710
GRCh38:
Chr9:133353855
SURF1not providedGO-ESP:0.00005(A)Likely pathogenic
(Oct 9, 2012)
criteria provided, single submitter
26.
GRCh37:
Chr9:136220737-136220739
GRCh38:
Chr9:133353882-133353884
SURF1not providedLikely pathogenic
(Jan 14, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr9:136220806
GRCh38:
Chr9:133353951
SURF1not providedGO-ESP:0.00002(C)Pathogenic
(Mar 20, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr9:136221515
GRCh38:
Chr9:133354660
SURF1not specifiedUncertain significance
(Apr 16, 2014)
criteria provided, single submitter
29.
GRCh37:
Chr9:136221516-136221525
GRCh38:
Chr9:133354661-133354670
SURF1Leigh syndrome, not providedPathogenic
(Jan 26, 2017)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr9:136221557
GRCh38:
Chr9:133354702
SURF1Leigh syndrome, not specifiedGMAF:0.03320(G)
GO-ESP:0.03849(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr9:136221568
GRCh38:
Chr9:133354713
SURF1not providedLikely pathogenic
(Jan 26, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr9:136221603
GRCh38:
Chr9:133354748
SURF1not specifiedLikely benign
(Sep 2, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr9:136221670
GRCh38:
Chr9:133354815
SURF1not specifiedBenign
(Sep 18, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr9:136221678
GRCh38:
Chr9:133354823
SURF1not providedPathogenic
(Apr 16, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr9:136221752
GRCh38:
Chr9:133354897
SURF1not specified, not providedGMAF:0.01020(C)
GO-ESP:0.00545(C)
Benign
(Dec 30, 2016)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr9:136221831
GRCh38:
Chr9:133354976
SURF1not specifiedLikely benign
(Dec 12, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr9:136223222-136223242
GRCh38:
Chr9:133356346-133356366
SURF1not specifiedBenign
(Jul 23, 2013)
criteria provided, single submitter
38.
GRCh37:
Chr9:136223266
GRCh38:
Chr9:133356390
SURF1Leigh syndrome, not specifiedGMAF:0.00120(T)
GO-ESP:0.00807(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr9:136223267
GRCh38:
Chr9:133356391
SURF1Leigh syndrome, not specifiedGMAF:0.00980(C)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr9:136223290
GRCh38:
Chr9:133356414
SURF1not specifiedLikely benign
(Aug 3, 2012)
criteria provided, single submitter
41.
GRCh37:
Chr9:136223313
GRCh38:
Chr9:133356437
SURF1not specifiedGMAF:0.00020(A)Likely benign
(Aug 14, 2013)
criteria provided, single submitter
42.
GRCh37:
Chr9:136223317-136223340
GRCh38:
Chr9:133356441-133356464
SURF1Leigh syndrome, not providedPathogenic/Likely pathogenic
(Dec 28, 2015)
criteria provided, single submitter
43.
GRCh37:
Chr9:136223354
GRCh38:
Chr9:133356478
SURF1not specifiedLikely benign
(Feb 1, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr9:136223366
GRCh38:
Chr9:133356490
SURF1Leigh syndrome, not specifiedGMAF:0.48800(G)Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr9:163131-141122114
ABCA1, ABCA2, ABL1, ABO, ACO1, PLIN2, AK1, ALAD, ALDH1A1, ALDH1B1, ALDOB, AMBP, ANXA1, NUDT2, APBA1, AQP3, AQP7, ASS1, AUH, BAAT, BAG1, KLF9, C5, C8G, CA9, CACNA1B, CCIN, KYAT1, TNFSF8, ENTPD2, CD72, CDK9, CDKN2A, CDKN2B, CEL, CKS2, CLTA, CNTFR, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, DMRT1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ELAVL2, ENDOG, ENG, STOM, FANCC, FANCG, FBP1, FKTN, FCN1, FCN2, FOXE1, MLANA, FPGS, FXN, NR5A1, FUT7, GALT, GAS1, NR6A1, GCNT1, GGTA1P, B4GALT1, GLDC, GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, DNAJA1, HSPA5, TNC, IARS, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, LCN1, LCN2, LMX1B, MLLT3, MTAP, MUSK, NCBP1, NDUFA8, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NOTCH1, NPR2, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PAX5, PDCL, PBX3, PCSK5, PGM5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PRSS3, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, PTPRD, RAD23B, RALGDS, RFX3, RGS3, RLN1, RLN2, RMRP, RORB, RPL7A, RPL12, RPS6, RXRA, CCL19, CCL21, SET, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TEK, TESK1, TGFBR1, TLE1, TLE4, TLN1, TLR4, TMOD1, TPM2, TRAF1, TRAF2, TSC1, TTF1, TXN, TYRP1, UGCG, VAV2, VCP, VLDLR, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, RECK, IKBKAP, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, MPDZ, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, CER1, LHX2, PLAA, GRHPR, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, RGP1, TRIM14, MELK, RUSC2, PPP1R26, SEC16A, ZBTB5, PUM3, TNFSF15, PTBP3, GNE, SH2D3C, RCL1, TOPORS, RABEPK, SIGMAR1, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, CREB3, UNC13B, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, DMRT2, RRAGA, ZBTB6, NEK6, SDCCAG3, NOXA1, CCL27, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, PSIP1, INSL6, SLC2A6, PTENP1, AKAP2, RPL35, MAN1B1, DCTN3, FRMPD1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, KDM4C, ZBTB43, SMC5, KANK1, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, PHF24, KIAA0368, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, DDX58, RABGAP1, TMEM2, TMEM245, FRRS1L, SLC24A2, CIZ1, DNAJB5, DCAF12, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, CERCAM, EGFL7, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, CBWD1, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, SH3GLB2, REXO4, DOLPP1, KIAA1161, KCNT1, RIC1, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, INIP, ZNF462, DMRT3, PRDM12, NAA35, DMRTA1, SLC28A3, CARD9, SUSD1, POLR1E, IPPK, DDX31, FAM129B, LRRC19, MRPL41, NOL6, WNK2, SECISBP2, C9orf16, MAPKAP1, DCAF10, ZCCHC6, GALNT12, EHMT1, MOB3B, CAAP1, CNTNAP3, ERMP1, SVEP1, RMI1, TRPM3, PTGES2, IFT74, FAM214B, GKAP1, PDCD1LG2, AKNA, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, C9orf69, LRSAM1, IL33, TMEM261, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, UHRF2, FAM122A, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, FAM69B, PTRH1, PIP5KL1, TAF1L, PTPDC1, PRSS47, ARID3C, RPP25L, C9orf131, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, C9orf62, C9orf66, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, TRMT10B, TTC16, FAM120AOS, SAXO1, FREM1, KIAA2026, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, AAED1, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LCN12, C9orf142, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, MURC, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, C9orf172, LRRC26, TMEM8C, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, HACD4, TMEM215, TOMM5, C9orf170, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LCNL1, C9orf139, FAM166A, SOHLH1, PLPP6, ZBTB34, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR181A2, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, C9orf106, IDNK, LCN10, ANKRD20A3, ANKRD20A2, SPATA31C1, NUTM2G, ANKRD18B, STPG3, NRARP, FOXB2, CBWD3, C9orf129, PALM2-AKAP2, PAPPA-AS1, DNAJC25, DNAJC25-GNG10, NRON, FAM163B, RNF224, CBWD6, SPATA31C2, HRCT1, SPATA31A1, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, ANKRD20A4, FAM166B, CDKN2B-AS1, IZUMO3, FAM157B, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, C9orf41-AS1
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
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