S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 33

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:97365659
GRCh38:
Chr9:94603377
FBP1not specifiedLikely benign
(Apr 4, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr9:97365704
GRCh38:
Chr9:94603422
FBP1not specifiedLikely benign
(Mar 6, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr9:97365710
GRCh38:
Chr9:94603428
FBP1not providedLikely pathogenic
(Feb 19, 2013)
criteria provided, single submitter
4.
GRCh37:
Chr9:97365720
GRCh38:
Chr9:94603438
FBP1not providedPathogenic
(Oct 24, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr9:97365774
GRCh38:
Chr9:94603492
FBP1not specifiedLikely benign
(Jul 19, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr9:97365800
GRCh38:
Chr9:94603518
FBP1not providedLikely pathogenic
(Oct 24, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr9:97365815
GRCh38:
Chr9:94603533
FBP1not specified, not providedLikely benign
(Feb 22, 2017)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr9:97365839
GRCh38:
Chr9:94603557
FBP1not providedLikely pathogenic
(Nov 22, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr9:97365863
GRCh38:
Chr9:94603581
FBP1not specifiedBenign
(Jul 22, 2013)
criteria provided, single submitter
10.
GRCh37:
Chr9:97365869
GRCh38:
Chr9:94603587
FBP1not specifiedLikely benign
(Jul 29, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr9:97365869
GRCh38:
Chr9:94603587
FBP1not specifiedBenign
(Nov 28, 2012)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr9:97367834
GRCh38:
Chr9:94605552
FBP1not providedLikely pathogenic
(Sep 4, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr9:97369105
GRCh38:
Chr9:94606823
FBP1not specifiedBenign
(May 16, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr9:97369132
GRCh38:
Chr9:94606850
FBP1Fructose-biphosphatase deficiency, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr9:97372274
GRCh38:
Chr9:94609992
FBP1not specifiedUncertain significance
(Oct 9, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr9:97372275
GRCh38:
Chr9:94609993
FBP1not providedLikely pathogenic
(Nov 12, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr9:97372312
GRCh38:
Chr9:94610030
FBP1not specifiedUncertain significance
(Jul 3, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr9:97380121
GRCh38:
Chr9:94617839
FBP1Fructose-biphosphatase deficiency, not providedPathogenic/Likely pathogenic
(Mar 27, 2017)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr9:97380131
GRCh38:
Chr9:94617849
FBP1not specifiedLikely benign
(Nov 7, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr9:97380157
GRCh38:
Chr9:94617875
FBP1Fructose-biphosphatase deficiency, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr9:97382620
GRCh38:
Chr9:94620338
FBP1not specifiedLikely benign
(Feb 12, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr9:97382668
GRCh38:
Chr9:94620386
FBP1Fructose-biphosphatase deficiency, not specifiedBenign/Likely benign
(Jun 28, 2017)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr9:97382669
GRCh38:
Chr9:94620387
FBP1not specifiedUncertain significance
(Oct 5, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr9:97382677
GRCh38:
Chr9:94620395
FBP1not providedPathogenic
(Apr 27, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr9:97382707
GRCh38:
Chr9:94620425
FBP1Fructose-biphosphatase deficiency, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr9:97401452
GRCh38:
Chr9:94639170
FBP1not specifiedBenign
(Nov 28, 2012)
criteria provided, single submitter
27.
GRCh37:
Chr9:97401474-97401479
GRCh38:
Chr9:94639192-94639197
FBP1not providedPathogenic
(Sep 8, 2015)
criteria provided, single submitter
28.
GRCh37:
Chr9:97401515
GRCh38:
Chr9:94639233
FBP1not specifiedLikely benign
(Aug 3, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr9:97402341
GRCh38:
Chr9:94640059
FBP1not specifiedBenign
(Sep 5, 2014)
criteria provided, single submitter
30.
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, 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, ELP1, 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, 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, MYORG, 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, TMEM250, LRSAM1, IL33, DMAC1, 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, PAXX, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, AJM1, LRRC26, MYMK, 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, LOC651337, 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
31.
GRCh37:
Chr9:95324002-100884862
GRCh38:
Chr9:92561720-98122580
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
32.
GRCh37:
Chr9:91137207-116450076
GRCh38:
Chr9:88522292-113687796
ABCA1, ALAD, ALDOB, AUH, BAAT, CKS2, COL15A1, SLC31A1, SLC31A2, CTSV, CYLC2, ECM2, LPAR1, S1PR3, FANCC, FBP1, FKTN, FOXE1, GNG10, HSD17B3, IARS, MUSK, NCBP1, NFIL3, NINJ1, ROR2, OMD, OGN, PHF2, PPP3R2, PTCH1, PTPN3, RAD23B, RGS3, SYK, TAL2, TGFBR1, TMOD1, TXN, UGCG, CORO2A, XPA, ZFP37, ZNF189, NR4A3, ELP1, CDC14B, TMEFF1, CTNNAL1, FBP2, PRPF4, KLF4, GABBR2, TRIM14, PTBP3, SEMA4D, ANP32B, SPTLC1, SMC2, ACTL7B, ACTL7A, GADD45G, SEC61B, SLC35D2, AKAP2, ZNF510, HABP4, PTGR1, ERP44, FAM120A, BICD2, FKBP15, KIAA0368, TDRD7, SLC44A1, TMEM245, FRRS1L, NIPSNAP3A, OR2K2, INVS, TRMO, SHC3, POLE3, NANS, MRPL50, EPB41L4B, NUTM2F, DIRAS2, ASPN, BSPRY, TEX10, PLPPR1, FAM206A, STX17, NOL8, TMEM38B, NIPSNAP3B, TBC1D2, HEMGN, BARX1, RNF20, LOC100499484-C9ORF174, SLC46A2, INIP, ZNF462, SUSD1, IPPK, WNK2, SECISBP2, GALNT12, SVEP1, HDHD3, ZNF484, FSD1L, HSDL2, CARD19, MFSD14C, TMEM246, MFSD14B, C9orf3, ALG2, FGD3, MSANTD3, PALM2, WDR31, GRIN3A, RNF183, PTPDC1, PRSS47, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, NXNL2, MIRLET7DHG, FAM120AOS, LINC00475, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, LOC158434, LOC158435, ZNF883, ZNF169, AAED1, ZNF367, ANKS6, SUSD3, CDC26, TXNDC8, C9orf43, C9orf47, LOC286238, FAM225A, LOC286359, OR13C9, OR13D1, LOC286367, MIR4290HG, LOC340512, LINC01501, CAVIN4, ERCC6L2, OR13C2, CENPP, C9orf152, SNX30, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR23B, MIR24-1, MIR27B, MIR32, LINC00587, NUTM2G, STX17-AS1, C9orf129, PALM2-AKAP2, DNAJC25, DNAJC25-GNG10, SNORA84, LOC100128361, FAM225B, LINC00476, UNQ6494, LOC100129316, LINC00484, LOC100132077, C9orf147, LINC00092, TRR-TCG6-1, MIR1302-8, MIR2278, MIR3074, MIR4291, MIR3153, MIR4290, MIR4289, CCDC180, MIR3910-1, MIR3927, MIR3910-2, MIR3651, LOC100507346, MSANTD3-TMEFF1, MIR4668, MIR4670, MIR548AU, NAMA, LINC01505, LOC101927847, LINC01508, LOC101927954, BARX1-AS1, PCAT7, LOC101928119, PTCSC2, LOC101928438, TMEM246-AS1, LINC01492, LOC101928523, SMC2-AS1, LINC01509, LOC101929748, MIR6854, MIR7702, MIR8081, MIR6081, HSD17B3-AS1, LOC105376194, LOC107987013
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
33.
GRCh37:
Chr9:94358815-99781028
GRCh38:
Chr9:91596533-97018746
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center