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Items: 1 to 100 of 1273

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
NF1Neurofibromatosis, type 1Uncertain significance
(Jan 16, 2016)
criteria provided, single submitter
2.
NF1Neurofibromatosis, type 1Pathogenic
(Feb 11, 2016)
criteria provided, single submitter
3.
NF1Neurofibromatosis, type 1Pathogenic
(Sep 13, 2015)
criteria provided, single submitter
4.
NF1Neurofibromatosis, type 1Likely pathogenic
(Jul 2, 2015)
criteria provided, single submitter
5.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
6.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
7.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
8.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
9.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
10.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
11.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
12.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
13.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
14.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
15.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
16.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
17.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
18.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
19.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
20.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
21.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
22.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
23.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
24.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
25.
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
26.
NF1Neurofibromatosis, type 1Pathogenic
(Jun 1, 2009)
no assertion criteria provided
27.
NF1Neurofibromatosis, type 1Pathogenic
(Nov 1, 2004)
no assertion criteria provided
28.
NF1Neurofibromatosis, type 1Pathogenic
(Oct 1, 2004)
no assertion criteria provided
29.
NF1Neurofibromatosis, type 1Pathogenic
(Jan 1, 2003)
no assertion criteria provided
30.
NF1Juvenile myelomonocytic leukemiaPathogenic
(Jun 12, 1997)
no assertion criteria provided
31.
NF1Café-au-lait macules with pulmonary stenosisPathogenic
(Dec 1, 1992)
no assertion criteria provided
32.
NF1Café-au-lait macules with pulmonary stenosisPathogenic
(Jul 1, 1993)
no assertion criteria provided
33.
NF1Neurofibromatosis, type 1Pathogenic
(Dec 1, 1992)
no assertion criteria provided
34.
NF1Neurofibromatosis, type 1Pathogenic
(Oct 31, 1991)
no assertion criteria provided
35.
GRCh37:
Chr17:17711738-217748468
AANAT, ACACA, ASIC2, ACLY, ACOX1, ACTG1, AP2B1, ALDH3A1, ALDH3A2, ALDOC, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ATP5G1, ATP6V0A1, BLMH, BRCA1, FMNL1, CA4, CACNB1, CACNG1, CD7, CD79B, CDC6, CDC27, CDK3, CHAD, CLTC, CCR7, CNP, COL1A1, COX11, CPD, CRHR1, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CYB561, ACE, DDX5, DHX8, DLX3, DLX4, DRG2, DUSP3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, CCR10, UTS2R, GPS1, GRB2, GRB7, GRN, GRIN2C, H3F3B, HCRT, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MLLT6, MPO, MPP2, MPP3, TRIM37, MYL4, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, OMG, P4HB, PDE6G, PDK2, PECAM1, PEX12, PHB, PNMT, SEPT4, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RFNG, RPL19, RPL23A, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, SRSF1, SRSF2, SGCA, SGSH, SHC1P2, SHMT1, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TRQ-TTG1-1, DNAJC7, TUBG1, UBTF, VTN, WNT3, WNT9B, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, TAF15, RND2, COIL, AKAP1, EPX, AXIN2, PIP4K2B, SPOP, FOXN1, PPM1D, CNTNAP1, DGKE, CBX4, TCAP, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, ABCC3, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, SPAG9, SLC13A2, UNC119, MTMR4, SLC16A6, SLC16A5, SLC16A3, SYNGR2, HGS, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, PGS1, TBX4, NPEPPS, GOSR1, CCL4L2, GOSR2, NR1D1, TRAF4, AATK, KIAA0100, ULK2, TBKBP1, TMEM94, EIF4A3, PLEKHM1, MED24, LRRC37A, MRC2, HELZ, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, BAIAP2, ATP5H, HOXB13, VAT1, APPBP2, FBXW10, P3H4, ST6GALNAC2, HEXIM1, SPAG5, IGF2BP1, GNA13, CCT6B, RAI1, GRAP, SEPT9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, CASC3, IKZF3, ZNF652, PPM1E, ARSG, EPN2, CEP131, SARM1, GPATCH8, GGA3, JMJD6, EXOC7, USP22, KCNH4, ABCA6, ABCA5, KCTD2, SUZ12, MMD, WBP2, CDC42EP4, PPY2P, PYY2, FSCN2, NOL11, DHRS7B, KRT23, TMEM98, POLDIP2, TBC1D29, TANC2, WSB1, NAT9, PITPNC1, ERAL1, NARF, AATF, OR4D1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, SAP30BP, PSMC3IP, SNX11, TBX21, NT5C, SOCS7, CDR2L, SOST, TVP23B, MRPS7, UTP18, RNFT1, HN1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, NLK, LUC7L3, HIGD1B, CDK12, KRT20, NLE1, SDK2, FNDC8, FAM20A, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLFN12, PNPO, KLHL11, SMG8, SLC47A1, TMEM100, RHOT1, RSAD1, COPRS, LRRC59, NPLOC4, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, CA10, ATXN7L3, CCDC47, PLXDC1, LYZL6, CBX8, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, TAOK1, BAHCC1, USP36, ARHGAP23, PHF12, RNF213, TNRC6C, PCTP, SCPEP1, SLC25A19, FKBP10, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, DNAI2, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, GID4, ASPSCR1, TMUB2, CARD14, DHX58, MMP28, DHRS11, MFSD11, PRR15L, C17orf62, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, DRC3, TTC25, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, RNF135, MIEN1, MRPL45, VPS25, TMEM101, PRAC1, RAB11FIP4, GHDC, KRTAP4-4, KIF2B, USP32, PPP1R9B, CBX2, FAM104A, CORO6, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, SLFN11, RASL10B, ATPAF2, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, PIGS, TTYH2, HSPB9, ORMDL3, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, EFCAB13, MRPL10, TBC1D16, AFMID, GJD3, KRT222, KRT40, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, TCAM1P, EFCAB3, SLC47A2, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, SLFN5, NAGS, FAM134C, TMEM92, PHOSPHO1, RHBDL3, SPPL2C, KRT28, KRT24, CEP112, ARHGAP27, ZNF385C, SAMD14, LYRM9, STRA13, LRRC45, SLC39A11, NOS2P2, TRIM65, UNC13D, RDM1, GAS2L2, STH, STXBP4, TBC1D28, TAC4, MYADML2, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXDC, C17orf58, MILR1, KANSL1, C17orf105, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, PTRF, SLC26A11, ENDOV, GDPD1, C17orf89, TMEM105, LGALS9B, METRNL, KLHL10, RAB37, METTL2A, CCDC144NL, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, C17orf51, MSL1, CD300E, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, ZACN, KRT26, PRAC2, HILS1, EFCAB5, LRRC37A3, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, CCL3P1, ARL5C, KRT39, MYO18A, GRAPL, C17orf102, TEX19, CUEDC1, MIR10A, MIR144, MIR152, MIR193A, MIR196A1, MIR21, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, FAM83G, EVPLL, NOS2P1, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, ZNF286B, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, C17orf96, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXDC-IT1, ARL17B, C17orf112, SLFN12L, KRTAP9-6, PTGES3L, PTGES3L-AARSD1, LOC101927666
Smith-Magenis syndromePathogenic
(Nov 12, 2015)
criteria provided, single submitter
36.
GRCh37:
Chr17:29422320
GRCh38:
Chr17:31095302
NF1Neurofibromatosis, type 1Uncertain significance
(Aug 26, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr17:29422326
GRCh38:
Chr17:31095308
NF1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(May 8, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr17:29422333
GRCh38:
Chr17:31095315
NF1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Jul 17, 2015)
criteria provided, single submitter
39.
GRCh37:
Chr17:29422344
GRCh38:
Chr17:31095326
NF1Neurofibromatosis, type 1Uncertain significance
(Jul 31, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr17:29422358
GRCh38:
Chr17:31095340
NF1Tumor susceptibility linked to germline BAP1 mutations, not providedPathogenic/Likely pathogenic
(Mar 2, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:29422363
GRCh38:
Chr17:31095345
NF1Hereditary cancer-predisposing syndromeLikely benign
(Dec 23, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr17:29422382
GRCh38:
Chr17:31095364
NF1Hereditary cancer-predisposing syndromePathogenic
(Nov 11, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr17:29466686-29490493
GRCh38:
Chr17:31139668-31163475
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
44.
GRCh37:
Chr17:29470913-29484077
GRCh38:
Chr17:31143895-31157059
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
45.
GRCh37:
Chr17:29476479-29484166
GRCh38:
Chr17:31149461-31157148
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
46.
GRCh37:
Chr17:29477812-29484743
GRCh38:
Chr17:31150794-31157725
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
47.
GRCh37:
Chr17:29483023
GRCh38:
Chr17:31156005
NF1Neurofibromatosis, type 1, Hereditary cancer-predisposing syndromeUncertain significance
(Oct 1, 2015)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr17:29483031
GRCh38:
Chr17:31156013
NF1Hereditary cancer-predisposing syndromeUncertain significance
(Oct 6, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr17:29483032
GRCh38:
Chr17:31156014
NF1not providednot providedno assertion provided
50.
GRCh37:
Chr17:29483039
GRCh38:
Chr17:31156021
NF1Hereditary cancer-predisposing syndromeUncertain significance
(Oct 23, 2014)
criteria provided, single submitter
51.
GRCh37:
Chr17:29483040
GRCh38:
Chr17:31156022
NF1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 30, 2014)
criteria provided, single submitter
52.
GRCh37:
Chr17:29483047
GRCh38:
Chr17:31156029
NF1Neurofibromatosis, type 1, Hereditary cancer-predisposing syndromeGMAF:0.00020(G)Conflicting interpretations of pathogenicity
(Nov 7, 2015)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr17:29483048
GRCh38:
Chr17:31156030
NF1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Sep 17, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr17:29483062
GRCh38:
Chr17:31156044
NF1Hereditary cancer-predisposing syndromeUncertain significance
(Oct 16, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr17:29483069
GRCh38:
Chr17:31156051
NF1Neurofibromatosis, type 1, Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Jan 11, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr17:29483074
GRCh38:
Chr17:31156056
NF1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Aug 11, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr17:29483102
GRCh38:
Chr17:31156084
NF1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Sep 28, 2015)
criteria provided, single submitter
58.
GRCh37:
Chr17:29483108
GRCh38:
Chr17:31156090
NF1Neurofibromatosis, type 1, not specified, Hereditary cancer-predisposing syndrome
GMAF:0.00460(T)Benign
(Nov 11, 2015)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:29483109
GRCh38:
Chr17:31156091
NF1Neurofibromatosis, type 1Uncertain significance
(Mar 29, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr17:29483111
GRCh38:
Chr17:31156093
NF1Neurofibromatosis, type 1Likely benign
(Feb 1, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr17:29483111
GRCh38:
Chr17:31156093
NF1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Mar 10, 2015)
criteria provided, single submitter
62.
GRCh37:
Chr17:29483116
GRCh38:
Chr17:31156098
NF1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jul 8, 2015)
criteria provided, single submitter
63.
GRCh37:
Chr17:29483140
GRCh38:
Chr17:31156122
NF1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jun 2, 2015)
criteria provided, single submitter
64.
GRCh37:
Chr17:29484744-29489260
GRCh38:
Chr17:31157726-31162242
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
65.
GRCh37:
Chr17:29486035
GRCh38:
Chr17:31159017
NF1Hereditary cancer-predisposing syndromeUncertain significance
(Dec 22, 2014)
criteria provided, single submitter
66.
GRCh37:
Chr17:29486044
GRCh38:
Chr17:31159026
NF1not providednot providedno assertion provided
67.
GRCh37:
Chr17:29486054
GRCh38:
Chr17:31159036
NF1Neurofibromatosis, type 1, Hereditary cancer-predisposing syndromeGMAF:0.00020(G)Uncertain significance
(Mar 27, 2016)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr17:29486057
GRCh38:
Chr17:31159039
NF1Neurofibromatosis, type 1, Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Feb 23, 2016)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr17:29486058
GRCh38:
Chr17:31159040
NF1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Aug 14, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr17:29486062
GRCh38:
Chr17:31159044
NF1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 29, 2014)
criteria provided, single submitter
71.
GRCh37:
Chr17:29486064
GRCh38:
Chr17:31159046
NF1Neurofibromatosis, type 1, Hereditary cancer-predisposing syndromeUncertain significance
(Oct 20, 2015)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr17:29486068
GRCh38:
Chr17:31159050
NF1not providednot providedno assertion provided
73.
GRCh37:
Chr17:29486084
GRCh38:
Chr17:31159066
NF1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Mar 9, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr17:29486101
GRCh38:
Chr17:31159083
NF1not providednot providedno assertion provided
75.
GRCh37:
Chr17:29486341-29495097
GRCh38:
Chr17:31159323-31168079
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
76.
GRCh37:
Chr17:29488967-29500340
GRCh38:
Chr17:31161949-31173322
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
77.
GRCh37:
Chr17:29489033-29511646
GRCh38:
Chr17:31162015-31184628
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
78.
GRCh37:
Chr17:29489248-29502014
GRCh38:
Chr17:31162230-31174996
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
79.
GRCh37:
Chr17:29489254-29500058
GRCh38:
Chr17:31162236-31173040
NF1Neurofibromatosis, type 1Pathogenicno assertion criteria provided
80.
GRCh37:
Chr17:29490212
GRCh38:
Chr17:31163194
NF1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Jan 14, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr17:29490236
GRCh38:
Chr17:31163218
NF1Hereditary cancer-predisposing syndromeLikely benign
(Jul 8, 2014)
criteria provided, single submitter
82.
GRCh37:
Chr17:29490255
GRCh38:
Chr17:31163237
NF1Neurofibromatosis, type 1, Hereditary cancer-predisposing syndromeGMAF:0.00180(T)Benign
(Mar 14, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr17:29490265
GRCh38:
Chr17:31163247
NF1not providednot providedno assertion provided
84.
GRCh37:
Chr17:29490269
GRCh38:
Chr17:31163251
NF1Neurofibromatosis, type 1, Hereditary cancer-predisposing syndromeLikely benign
(Oct 20, 2015)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr17:29490279
GRCh38:
Chr17:31163261
NF1Hereditary cancer-predisposing syndromeUncertain significance
(Jan 15, 2014)
criteria provided, single submitter
86.
GRCh37:
Chr17:29490281
GRCh38:
Chr17:31163263
NF1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Aug 30, 2015)
criteria provided, single submitter
87.
GRCh37:
Chr17:29490282
GRCh38:
Chr17:31163264
NF1Hereditary cancer-predisposing syndromeUncertain significance
(Mar 12, 2014)
criteria provided, single submitter
88.
GRCh37:
Chr17:29490283
GRCh38:
Chr17:31163265
NF1Neurofibromatosis, type 1Uncertain significance
(Jan 17, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr17:29490284
GRCh38:
Chr17:31163266
NF1Neurofibromatosis, type 1, Hereditary cancer-predisposing syndromeGMAF:0.00140(G)Benign/Likely benign
(Jan 29, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr17:29490288
GRCh38:
Chr17:31163270
NF1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(May 22, 2015)
criteria provided, single submitter
91.
GRCh37:
Chr17:29490293
GRCh38:
Chr17:31163275
NF1Hereditary cancer-predisposing syndromeUncertain significance
(Jun 18, 2014)
criteria provided, single submitter
92.
GRCh37:
Chr17:29490304
GRCh38:
Chr17:31163286
NF1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jul 23, 2015)
criteria provided, single submitter
93.
GRCh37:
Chr17:29490308
GRCh38:
Chr17:31163290
NF1Hereditary cancer-predisposing syndromeLikely benign
(Aug 1, 2014)
criteria provided, single submitter
94.
GRCh37:
Chr17:29490312
GRCh38:
Chr17:31163294
NF1Neurofibromatosis, type 1Pathogenic
(Feb 5, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr17:29490318
GRCh38:
Chr17:31163300
NF1Neurofibromatosis, type 1Uncertain significance
(Sep 6, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr17:29490332
GRCh38:
Chr17:31163314
NF1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Aug 20, 2015)
criteria provided, single submitter
97.
GRCh37:
Chr17:29490348
GRCh38:
Chr17:31163330
NF1Hereditary cancer-predisposing syndromeUncertain significance
(Nov 17, 2014)
criteria provided, single submitter
98.
GRCh37:
Chr17:29490349
GRCh38:
Chr17:31163331
NF1not providednot providedno assertion provided
99.
GRCh37:
Chr17:29490350
GRCh38:
Chr17:31163332
NF1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Jun 19, 2015)
criteria provided, single submitter
100.
GRCh37:
Chr17:29490371
GRCh38:
Chr17:31163353
NF1Neurofibromatosis, type 1Likely benign
(Oct 2, 2015)
criteria provided, single submitter
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