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Items: 35

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:94794758
GRCh38:
Chr9:92032476
SPTLC1Neuropathy hereditary sensory and autonomic type 1, not specifiedBenign/Likely benign
(Jun 16, 2017)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr9:94794767
GRCh38:
Chr9:92032485
SPTLC1not specified, not providedConflicting interpretations of pathogenicity
(May 31, 2017)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr9:94794849
GRCh38:
Chr9:92032567
SPTLC1Neuropathy hereditary sensory and autonomic type 1, not specifiedLikely benign
(Jul 25, 2017)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr9:94797172
GRCh38:
Chr9:92034890
SPTLC1Neuropathy hereditary sensory and autonomic type 1, not specifiedBenign/Likely benign
(Aug 2, 2017)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr9:94800520
GRCh38:
Chr9:92038238
SPTLC1Neuropathy hereditary sensory and autonomic type 1, not specifiedBenign/Likely benign
(Jul 10, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr9:94800594
GRCh38:
Chr9:92038312
SPTLC1not specifiedUncertain significance
(Aug 17, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr9:94800624
GRCh38:
Chr9:92038342
SPTLC1Neuropathy hereditary sensory and autonomic type 1, not specifiedConflicting interpretations of pathogenicity
(Jul 25, 2017)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr9:94809444
GRCh38:
Chr9:92047162
SPTLC1not specifiedLikely benign
(May 24, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr9:94809504-94809505
GRCh38:
Chr9:92047222-92047223
SPTLC1not specifiedUncertain significance
(Nov 15, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr9:94809516
GRCh38:
Chr9:92047234
SPTLC1not specifiedUncertain significance
(Jul 27, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr9:94809543
GRCh38:
Chr9:92047261
SPTLC1not providedPathogenic
(Nov 4, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr9:94809555
GRCh38:
Chr9:92047273
SPTLC1Neuropathy hereditary sensory and autonomic type 1, not specifiedBenign/Likely benign
(Apr 19, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr9:94809916
GRCh38:
Chr9:92047634
SPTLC1not specifiedLikely benign
(May 1, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr9:94809995
GRCh38:
Chr9:92047713
SPTLC1not specifiedUncertain significance
(Aug 27, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr9:94812242
GRCh38:
Chr9:92049960
SPTLC1not specifiedLikely benign
(Aug 5, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr9:94812346
GRCh38:
Chr9:92050064
SPTLC1not specifiedUncertain significance
(Jan 15, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr9:94812355
GRCh38:
Chr9:92050073
SPTLC1Neuropathy hereditary sensory and autonomic type 1, not specifiedBenign/Likely benign
(Aug 4, 2017)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr9:94830232
GRCh38:
Chr9:92067950
SPTLC1not specifiedBenign
(Jan 28, 2014)
criteria provided, single submitter
19.
GRCh37:
Chr9:94830336
GRCh38:
Chr9:92068054
SPTLC1not specifiedUncertain significance
(Mar 30, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr9:94830377
GRCh38:
Chr9:92068095
SPTLC1Neuropathy hereditary sensory and autonomic type 1, not providedPathogenic/Likely pathogenic
(Jul 31, 2017)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr9:94830380
GRCh38:
Chr9:92068098
SPTLC1not specifiedUncertain significance
(Aug 23, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr9:94842337
GRCh38:
Chr9:92080055
SPTLC1not specifiedUncertain significance
(Mar 28, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr9:94842338
GRCh38:
Chr9:92080056
SPTLC1Neuropathy hereditary sensory and autonomic type 1, not specifiedBenign/Likely benign
(Aug 4, 2017)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr9:94843196
GRCh38:
Chr9:92080914
SPTLC1not specifiedUncertain significance
(Jul 21, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr9:94843245
GRCh38:
Chr9:92080963
SPTLC1not specifiedLikely benign
(Oct 5, 2016)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr9:94843263
GRCh38:
Chr9:92080981
SPTLC1not specifiedLikely benign
(Nov 16, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr9:94871074
GRCh38:
Chr9:92108792
SPTLC1Neuropathy hereditary sensory and autonomic type 1, not specifiedUncertain significance
(May 18, 2017)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr9:94874717-94874718
GRCh38:
Chr9:92112435-92112436
SPTLC1not specifiedLikely benign
(Mar 1, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr9:94874782
GRCh38:
Chr9:92112500
SPTLC1not specifiedUncertain significance
(Jun 20, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr9:94874834
GRCh38:
Chr9:92112552
SPTLC1not providedLikely pathogenic
(Jul 20, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr9:94874844
GRCh38:
Chr9:92112562
SPTLC1not specifiedUncertain significance
(Mar 29, 2016)
criteria provided, single submitter
32.
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
33.
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
34.
GRCh37:
Chr9:94358815-99781028
GRCh38:
Chr9:91596533-97018746
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
35.
GRCh37:
Chr9:94697309-95093377
GRCh38:
Chr9:91935027-92331095
IARS, ROR2, SPTLC1, NOL8, PRSS47, LINC00475, CENPP, SNORA84, MIR3651See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
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