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

Download:

Choose Destination

Search results

Items: 51

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
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, JPT1, 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, RETREG3, TMEM92, PHOSPHO1, RHBDL3, SPPL2C, KRT28, KRT24, CEP112, ARHGAP27, ZNF385C, SAMD14, LYRM9, CENPX, 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, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, 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, EPOP, 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
2.
GRCh37:
Chr17:38785042
GRCh38:
Chr17:40628790
SMARCE1Meningioma, familialBenign
(Jan 23, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr17:38785061
GRCh38:
Chr17:40628809
SMARCE1Meningioma, familialUncertain significance
(Nov 30, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr17:38785106
GRCh38:
Chr17:40628854
SMARCE1Meningioma, familialLikely benign
(Nov 15, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr17:38785151
GRCh38:
Chr17:40628899
SMARCE1Meningioma, familialLikely benign
(Jan 6, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr17:38785172
GRCh38:
Chr17:40628920
SMARCE1Meningioma, familialBenign
(Dec 20, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr17:38785178
GRCh38:
Chr17:40628926
SMARCE1Meningioma, familialUncertain significance
(Dec 21, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr17:38785194
GRCh38:
Chr17:40628942
SMARCE1Meningioma, familialLikely benign
(Jan 22, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr17:38785195-38785197
GRCh38:
Chr17:40628943-40628945
SMARCE1Meningioma, familialUncertain significance
(Dec 28, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr17:38786977
GRCh38:
Chr17:40630725
SMARCE1Meningioma, familialUncertain significance
(Oct 3, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr17:38787030
GRCh38:
Chr17:40630778
SMARCE1Meningioma, familialLikely benign
(Dec 26, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr17:38787038
GRCh38:
Chr17:40630786
SMARCE1Meningioma, familialUncertain significance
(Dec 15, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr17:38787048
GRCh38:
Chr17:40630796
SMARCE1Meningioma, familialLikely benign
(Jun 24, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr17:38787060
GRCh38:
Chr17:40630808
SMARCE1Meningioma, familialLikely benign
(Aug 26, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr17:38787071
GRCh38:
Chr17:40630819
SMARCE1Meningioma, familialUncertain significance
(Dec 11, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr17:38787072
GRCh38:
Chr17:40630820
SMARCE1Meningioma, familialLikely benign
(Dec 26, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr17:38787893
GRCh38:
Chr17:40631641
SMARCE1Meningioma, familialUncertain significance
(Oct 17, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr17:38787909
GRCh38:
Chr17:40631657
SMARCE1not providedPathogenic
(Oct 21, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr17:38787945
GRCh38:
Chr17:40631693
SMARCE1Meningioma, familialrisk factor
(Mar 1, 2013)
no assertion criteria provided
20.
GRCh37:
Chr17:38788518
GRCh38:
Chr17:40632266
SMARCE1Meningioma, familialUncertain significance
(May 31, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr17:38788519
GRCh38:
Chr17:40632267
SMARCE1Meningioma, familialLikely benign
(Apr 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr17:38788534-38788537
GRCh38:
Chr17:40632282-40632285
SMARCE1Meningioma, familialPathogenic
(Apr 7, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr17:38788564
GRCh38:
Chr17:40632312
SMARCE1Meningioma, familialLikely benign
(Jan 7, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr17:38788588
GRCh38:
Chr17:40632336
SMARCE1Meningioma, familialLikely benign
(Aug 10, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr17:38788589
GRCh38:
Chr17:40632337
SMARCE1Meningioma, familialrisk factor
(Mar 1, 2013)
no assertion criteria provided
26.
GRCh37:
Chr17:38792199
GRCh38:
Chr17:40635947
SMARCE1Meningioma, familialLikely benign
(Aug 21, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr17:38792199
GRCh38:
Chr17:40635947
SMARCE1Meningioma, familialPathogenic
(Jan 24, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr17:38792240
GRCh38:
Chr17:40635988
SMARCE1Meningioma, familialUncertain significance
(Dec 22, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr17:38792360
GRCh38:
Chr17:40636108
SMARCE1Meningioma, familialUncertain significance
(Aug 24, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr17:38792637
GRCh38:
Chr17:40636385
SMARCE1Meningioma, familialBenign
(Nov 9, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr17:38792665
GRCh38:
Chr17:40636413
SMARCE1Meningioma, familialBenign
(Jan 18, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr17:38792685
GRCh38:
Chr17:40636433
SMARCE1Meningioma, familialUncertain significance
(Feb 24, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr17:38792703
GRCh38:
Chr17:40636451
SMARCE1Meningioma, familialPathogenic
(Aug 15, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr17:38792705
GRCh38:
Chr17:40636453
SMARCE1not providedLikely pathogenic
(Mar 7, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr17:38792705
GRCh38:
Chr17:40636453
SMARCE1Meningioma, familialrisk factor
(Mar 1, 2013)
no assertion criteria provided
36.
GRCh37:
Chr17:38792716
GRCh38:
Chr17:40636464
SMARCE1Meningioma, familialLikely benign
(Jan 6, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr17:38792736
GRCh38:
Chr17:40636484
SMARCE1not providedLikely pathogenic
(Jul 22, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr17:38793742
GRCh38:
Chr17:40637490
SMARCE1Meningioma, familialrisk factor
(Mar 1, 2013)
no assertion criteria provided
39.
GRCh37:
Chr17:38793763
GRCh38:
Chr17:40637511
SMARCE1Coffin-Siris syndrome 5Pathogenic
(Dec 20, 2013)
no assertion criteria provided
40.
GRCh37:
Chr17:38793763
GRCh38:
Chr17:40637511
SMARCE1Meningioma, familial, Coffin-Siris syndrome 5Pathogenic/Likely pathogenic
(Dec 26, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr17:38793813
GRCh38:
Chr17:40637561
SMARCE1Meningioma, familialLikely benign
(Dec 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr17:38793829-38793830
GRCh38:
Chr17:40637577-40637578
SMARCE1not providedLikely pathogenic
(Feb 22, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr17:38793829
GRCh38:
Chr17:40637577
SMARCE1Meningioma, familialLikely benign
(Jan 25, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr17:38798714
GRCh38:
Chr17:40642462
SMARCE1Meningioma, familialUncertain significance
(Nov 15, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr17:38798728
GRCh38:
Chr17:40642476
SMARCE1Meningioma, familialLikely benign
(Jan 19, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr17:38798794
GRCh38:
Chr17:40642542
SMARCE1Meningioma, familialLikely benign
(Aug 24, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr17:38798806
GRCh38:
Chr17:40642554
SMARCE1Meningioma, familialUncertain significance
(Dec 13, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr17:57595736-73049225
GRCh38:
Chr17:36449220-75053130
ACACA, ACLY, AOC2, APOH, ARL4D, ATP5G1, ATP6V0A1, BRCA1, FMNL1, CA4, CACNB1, CACNG1, CD79B, CDC6, CDC27, CHAD, CLTC, CCR7, CNP, COL1A1, COX11, CRHR1, CSF3, CSH1, CSH2, CSHL1, CYB561, ACE, DDX5, DHX8, DLX3, DLX4, DUSP3, ERBB2, ERN1, ETV4, EZH1, BPTF, FDXR, GAST, FZD2, G6PC, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, CCR10, GRB7, GRN, GRIN2C, HCRT, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, ITGA2B, ITGA3, ITGB3, JUP, KCNJ2, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LHX1, LPO, NBR1, MAPT, ADAM11, MAP3K3, MEOX1, MLLT6, MPO, MPP2, MPP3, TRIM37, MYL4, NAGLU, NEUROD2, NFE2L1, NGFR, NME1, NME2, NMT1, NSF, PDK2, PECAM1, PHB, PNMT, SEPT4, MED1, PPY, PRKAR1A, PRKCA, MAP2K6, PSMB3, PYY, PSMC5, PSMD3, PSMD12, RAB5C, RAD51C, RARA, RNU2-1, RPL19, RPL27, RPL38, RPS6KB1, SCN4A, SRSF1, SGCA, SHC1P2, SLC4A1, SMARCD2, SMARCE1, SOX9, SP2, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, TADA2A, TBX2, HNF1B, MLX, THRA, TOP2A, TRQ-TTG1-1, TRR-CCG2-1, DNAJC7, TUBG1, UBTF, WNT3, WNT9B, PCGF2, TRIM25, VEZF1, RND2, COIL, AKAP1, EPX, AXIN2, PIP4K2B, SPOP, PPM1D, CNTNAP1, DGKE, TCAP, SKAP1, AOC3, BECN1, KRT38, KRT37, KRT36, ABCC3, RGS9, CACNA1G, HAP1, MAP3K14, SPAG9, MTMR4, SLC16A6, NOG, TSPOAP1, ZNHIT3, EFTUD2, RPL23, SLC9A3R1, COG1, TBX4, NPEPPS, GOSR2, NR1D1, TBKBP1, PLEKHM1, MED24, LRRC37A, MRC2, HELZ, MED13, HDAC5, TOM1L1, GJC1, TOB1, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, ATP5H, HOXB13, VAT1, APPBP2, P3H4, HEXIM1, IGF2BP1, GNA13, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, TLK2, DDX52, DUSP14, KAT7, POLG2, NXPH3, SNF8, SYNRG, CD300A, DDX42, CASC3, IKZF3, ZNF652, PPM1E, ARSG, GPATCH8, KCNH4, ABCA6, ABCA5, KCTD2, MMD, CDC42EP4, FAM215A, NOL11, KRT23, TANC2, NAT9, PITPNC1, AATF, OR4D1, CACNG5, CACNG4, TUBG2, NKIRAS2, COA3, PSMC3IP, SNX11, TBX21, SOCS7, CDR2L, SOST, UTP18, RNFT1, TUBD1, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, AMZ2, ARL17A, SLC25A39, MRPS23, PTRH2, LUC7L3, HIGD1B, CDK12, KRT20, SDK2, FAM20A, MBTD1, BCAS3, TMEM104, CWC25, RNF43, MKS1, LINC00483, C17orf80, EPN3, WIPI1, PNPO, KLHL11, SMG8, TMEM100, RSAD1, LRRC59, PRR11, TEX2, GSDMB, GPRC5C, TEX14, CA10, ATXN7L3, CCDC47, PLXDC1, INTS2, ARHGAP23, PCTP, SCPEP1, FKBP10, HEATR6, XYLT2, DNAI2, SMURF2, SPATA20, UBE2Z, WNK4, C17orf53, TMUB2, DHX58, DHRS11, PRR15L, DHX40, ACBD4, DCAKD, GGNBP2, MRM1, PLEKHH3, DBF4B, MYO19, ACSF2, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, TTC25, KRTAP4-12, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, BRIP1, MYCBPAP, PPP1R1B, MIEN1, MRPL45, VPS25, TMEM101, PRAC1, GHDC, KRTAP4-4, KIF2B, USP32, PPP1R9B, FAM104A, TNS4, FBXL20, MGC16275, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, LRRC46, SCRN2, CEP95, ANKRD40, STRADA, PRR29, G6PC3, ASB16, OTOP2, PGAP3, TTYH2, HSPB9, ORMDL3, PLCD3, TMEM106A, OSBPL7, NT5C3B, FTSJ3, HSF5, OR4D2, MSI2, USH1G, CD300LB, KIF19, ZPBP2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, WFIKKN2, FLJ40194, B4GALNT2, EFCAB13, MRPL10, GJD3, KRT222, KRT40, DYNLL2, CD300LF, C17orf77, TCAM1P, EFCAB3, LINC02003, CD300LG, KIF18B, RUNDC1, EME1, LINC02210, LINC00974, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, NAGS, RETREG3, TMEM92, PHOSPHO1, SPPL2C, KRT28, KRT24, CEP112, ARHGAP27, ZNF385C, SAMD14, SLC39A11, STH, STXBP4, CACNA1G-AS1, TAC4, LINC00469, FADS6, HID1, C17orf58, MILR1, KANSL1, C17orf105, FAM171A2, MEIOC, TTLL6, PICART1, C17orf47, PIGW, C17orf78, CISD3, GSDMA, CAVIN1, GDPD1, KLHL10, RAB37, METTL2A, ASB16-AS1, C17orf67, MSL1, CD300E, NACA2, KRT27, STAC2, OTOP3, SKA2, GPR142, KRT26, PRAC2, HILS1, LRRC37A3, C17orf98, LINC00671, CCDC103, RPRML, YPEL2, LINC01999, C17orf82, BTBD17, ARL5C, KRT39, TOB1-AS1, PRR29-AS1, KCNJ2-AS1, SOX9-AS1, LINC00511, LINC02092, CUEDC1, HOXB-AS3, MIR10A, MIR142, MIR152, MIR196A1, MIR21, MIR301A, TBC1D3C, GPR179, LINC02072, LRRC37A2, FBXO47, SNORA21, CPSF4L, KANSL1-AS1, WFDC21P, KRTAP4-11, NME1-NME2, SCARNA20, SNORA50C, SNORD104, MIR548D2, MIR633, MIR634, MIR635, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, FLJ45513, LOC729683, TBC1D3, KRTAP2-3, MIR454, SNORA38B, MAPT-AS1, MAPT-IT1, LOC100130520, LINC00910, CD300LD, KRTAP4-9, KRTAP4-7, PRO1804, MAP3K14-AS1, LOC100134391, EPOP, TRC-GCA2-2, TRR-CCT1-1, TRSUP-TTA1-1, TRC-GCA4-1, TRC-GCA2-3, TRN-GTT2-5, TRR-CCT2-1, TRR-TCG3-1, TRC-GCA2-4, TRC-GCA14-1, RAMP2-AS1, LOC100288866, MIR1203, MIR2117, MIR4315-2, MIR2909, MIR3185, MIR4315-1, LINC00674, LINC00673, MIR3614, MIR3615, MIR548AA2, LINC00672, LRRC3C, KRTAP9-7, KRTAP16-1, LOC100505782, ARL17B, SP2-AS1, C17orf112, TSPOAP1-AS1, LOC100507002, KRTAP9-6, MIR1273E, KRTAP29-1, MIR4728, MIR4726, MIR4734, MIR4729, MIR4737, MIR4736, MIR4524A, MIR3064, MIR5047, MIR4727, MIR4524B, MIR548AT, MIR5010, MIR5089, LINC00854, HOXB-AS1, PTGES3L, PTGES3L-AARSD1, TBC1D3K, TBC1D3L, TBC1D3D, SNORD124, RUNDC3A-AS1, LINC01180, LOC101927166, LINC02075, LINC01969, LINC02071, LOC101927539, LOC101927557, CCDC182, LOC101927666, SEPT4-AS1, LINC01476, LOC101927755, LOC101927855, LOC101927877, PRKCA-AS1, LOC101928021, LINC01482, LINC01483, LINC01028, CASC17, LINC02097, LOC101928251, LOC101928343, RARA-AS1, LOC101929767, MIR6080, MIR378J, MIR6129, MIR6165, MIR6779, MIR6781, MIR6782, MIR6784, MIR6867, MIR6780A, MIR6510, MIR6783, MIR6884, MIR8059, MIR6866, LINC01152, LOC102723471, LINC01497, LINC02095, LOC102723517, LINC02074, HID1-AS1, TBC1D3E, LOC102724183, THCAT158, LOC102724532, LOC102724596, TBX2-AS1, TMEM92-AS1, ABCA9-AS1, LINC02210-CRHR1, LOC105371763, LINC02079, LOC105371789, LOC105371795, LINC01974, THRA1/BTR, LINC02086, LOC105371814, LOC105371824, LINC02073, LINC01982, LINC02089, LOC105371849, LOC105371880, SNHG25, CRAT40, SNORA90, LINC01976
See casesPathogenic
(Feb 8, 2011)
no assertion criteria provided
49.
GRCh37:
Chr17:58617905-81044553
GRCh38:
Chr17:36449220-83086677
AANAT, ACACA, ACLY, ACOX1, ACTG1, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ATP5G1, ATP6V0A1, BRCA1, FMNL1, CA4, CACNB1, CACNG1, CD7, CD79B, CDC6, CDC27, CDK3, CHAD, CLTC, CCR7, CNP, COL1A1, COX11, CRHR1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CYB561, ACE, DDX5, DHX8, DLX3, DLX4, DUSP3, ERBB2, ERN1, ETV4, EVPL, EZH1, BPTF, FASN, FDXR, FOXJ1, 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, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LHX1, LLGL2, LPO, NBR1, MAFG, MAPT, ADAM11, MAP3K3, MEOX1, MLLT6, MPO, MPP2, MPP3, TRIM37, MYL4, NAGLU, NEUROD2, NFE2L1, NGFR, NME1, NME2, NMT1, NPTX1, NSF, P4HB, PDE6G, PDK2, PECAM1, PHB, PNMT, SEPT4, MED1, PPY, PRKAR1A, PRKCA, MAP2K6, PRPSAP1, PSMB3, PYY, PSMC5, PSMD3, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RARA, RFNG, RNU2-1, RPL19, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, SEC14L1, SECTM1, SRSF1, SRSF2, SGCA, SGSH, SHC1P2, SLC4A1, SMARCD2, SMARCE1, SUMO2, SOX9, SP2, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TOP2A, TRQ-TTG1-1, TRR-CCG2-1, DNAJC7, TUBG1, UBTF, WNT3, WNT9B, PCGF2, TRIM25, VEZF1, RND2, COIL, AKAP1, EPX, AXIN2, PIP4K2B, SPOP, PPM1D, CNTNAP1, DGKE, CBX4, TCAP, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, ABCC3, RGS9, GALR2, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, SPAG9, MTMR4, SLC16A6, SLC16A5, SLC16A3, SYNGR2, HGS, NOG, TSPOAP1, CYTH1, ZNHIT3, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, PGS1, TBX4, NPEPPS, GOSR2, NR1D1, AATK, 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, P3H4, ST6GALNAC2, HEXIM1, IGF2BP1, GNA13, SEPT9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, CASC3, IKZF3, ZNF652, PPM1E, ARSG, CEP131, GPATCH8, GGA3, JMJD6, EXOC7, KCNH4, ABCA6, ABCA5, KCTD2, MMD, WBP2, CDC42EP4, FAM215A, FSCN2, NOL11, KRT23, TANC2, NAT9, PITPNC1, NARF, AATF, OR4D1, CACNG5, CACNG4, TUBG2, NKIRAS2, COA3, SAP30BP, PSMC3IP, SNX11, TBX21, NT5C, SOCS7, CDR2L, SOST, MRPS7, UTP18, RNFT1, JPT1, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, AMZ2, ARL17A, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, LUC7L3, HIGD1B, CDK12, KRT20, SDK2, FAM20A, MBTD1, BCAS3, TMEM104, CWC25, RNF43, MKS1, LINC00483, C17orf80, CCDC40, EPN3, WIPI1, PNPO, KLHL11, SMG8, TMEM100, RSAD1, LRRC59, NPLOC4, PRR11, ST6GALNAC1, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, CA10, ATXN7L3, CCDC47, PLXDC1, CBX8, MIF4GD, INTS2, CASKIN2, RPTOR, BAHCC1, USP36, ARHGAP23, RNF213, TNRC6C, PCTP, SCPEP1, SLC25A19, FKBP10, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, DNAI2, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, ASPSCR1, TMUB2, CARD14, DHX58, DHRS11, MFSD11, PRR15L, C17orf62, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, ZNF750, ACBD4, DCAKD, GGNBP2, NUP85, MRM1, PLEKHH3, MYO15B, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, TTC25, KRTAP4-12, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, BRIP1, MYCBPAP, QRICH2, PPP1R1B, MIEN1, MRPL45, VPS25, TMEM101, PRAC1, GHDC, KRTAP4-4, KIF2B, USP32, PPP1R9B, CBX2, FAM104A, TNS4, FBXL20, MGC16275, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, STRADA, PRR29, G6PC3, ASB16, MAFG-AS1, OTOP2, PGAP3, TTYH2, HSPB9, ORMDL3, PLCD3, TMEM106A, CYGB, RNF157, OSBPL7, C1QTNF1, NT5C3B, PPP1R27, FTSJ3, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, WFIKKN2, FLJ40194, B4GALNT2, EFCAB13, MRPL10, TBC1D16, AFMID, GJD3, KRT222, KRT40, DYNLL2, MGAT5B, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, TCAM1P, EFCAB3, LINC02003, CD300LG, KIF18B, RUNDC1, EME1, LINC02210, LINC00974, NOTUM, TMC8, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, NAGS, RETREG3, TMEM92, PHOSPHO1, SPPL2C, KRT28, KRT24, CEP112, ARHGAP27, ZNF385C, SAMD14, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, STH, STXBP4, CACNA1G-AS1, TAC4, MYADML2, NPB, LINC00469, FADS6, HID1, TSEN54, UBALD2, LINC00868, TMEM235, CCDC57, HEXDC, C17orf58, MILR1, KANSL1, C17orf105, FAM171A2, MEIOC, TTLL6, PICART1, C17orf47, PIGW, C17orf78, CISD3, GSDMA, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, LINC00482, TMEM105, METRNL, KLHL10, RAB37, METTL2A, ASB16-AS1, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, MSL1, CD300E, NACA2, KRT27, STAC2, OTOP3, SKA2, MCRIP1, GPR142, ZACN, KRT26, PRAC2, HILS1, LRRC37A3, C17orf98, LINC00671, CCDC103, RPRML, YPEL2, LINC01999, C17orf82, BTBD17, AATK-AS1, ARL5C, KRT39, TOB1-AS1, PRR29-AS1, KCNJ2-AS1, SOX9-AS1, LINC00511, LINC02092, LINC01973, TEX19, CUEDC1, HOXB-AS3, MIR10A, MIR142, MIR152, MIR196A1, MIR21, MIR301A, TBC1D3C, MXRA7, GPR179, LINC02072, BAIAP2-AS1, MIR338, LRRC37A2, FBXO47, SNORA21, CPSF4L, SMIM5, KANSL1-AS1, WFDC21P, KRTAP4-11, NME1-NME2, SNHG20, SCARNA20, SCARNA16, SNORA50C, SNORD1A, SNORD1B, SNORD1C, SNORD104, MIR548D2, MIR633, MIR634, MIR635, MIR636, MIR657, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, FLJ45513, LOC729683, TBC1D3, KRTAP2-3, PRCD, MIR454, SNORA38B, MAPT-AS1, MAPT-IT1, LOC100130370, LOC100130520, LINC00910, SMIM6, TNRC6C-AS1, CD300LD, LINC01987, KRTAP4-9, KRTAP4-7, PRO1804, MAP3K14-AS1, LOC100134391, TEN1, C17orf99, EPOP, TRC-GCA2-2, TRR-CCT1-1, TRSUP-TTA1-1, TRC-GCA4-1, TRC-GCA2-3, TRN-GTT2-5, TRR-CCT2-1, TRX-CAT1-8, TRR-TCG3-1, TRC-GCA2-4, TRC-GCA14-1, RAMP2-AS1, LOC100287042, LOC100288866, LOC100294362, MIR1203, MIR1250, MIR2117, MIR4316, MIR3065, MIR3186, MIR4315-2, MIR2909, MIR3185, MIR4315-1, LINC00674, LINC00673, MIR3614, MIR3678, MIR3615, MIR548AA2, LINC00672, LRRC3C, KRTAP9-7, KRTAP16-1, LOC100505782, HEXDC-IT1, ARL17B, SP2-AS1, C17orf112, TSPOAP1-AS1, LOC100507002, RNF157-AS1, SNHG16, LOC100507351, C1QTNF1-AS1, KRTAP9-6, MIR1273E, TEN1-CDK3, KRTAP29-1, MIR1268B, MIR4728, MIR4726, MIR4739, MIR4525, MIR4734, MIR4729, MIR4737, MIR4736, MIR4738, MIR4740, MIR4524A, MIR4730, MIR3064, MIR5047, MIR4727, LINC02078, CEP295NL, MIR4524B, MIR548AT, MIR5010, MIR5089, LINC00854, HOXB-AS1, PTGES3L, PTGES3L-AARSD1, LINC01993, DNAH17-AS1, TBC1D3K, TBC1D3L, TBC1D3D, SNORD124, RUNDC3A-AS1, LINC01180, LOC101927166, LINC02075, LINC01969, LINC02071, LOC101927539, LOC101927557, CCDC182, LOC101927666, SEPT4-AS1, LINC01476, LOC101927755, LOC101927855, LOC101927877, PRKCA-AS1, LOC101928021, LINC01482, LINC01483, LINC01028, CASC17, LINC02097, LOC101928251, LOC101928343, LINC02080, LOC101928674, LINC02081, LINC01978, LINC01979, LOC101928855, LINC01970, LOC101929552, RARA-AS1, LOC101929767, MIR6080, MIR378J, MIR6129, MIR6165, MIR6779, MIR6781, MIR6782, MIR6784, MIR6786, MIR6787, MIR6867, MIR6780A, MIR6510, MIR6783, MIR6868, MIR6884, MIR6516, MIR6785, MIR8059, MIR6866, LINC01152, LOC102723471, LINC01497, LINC02095, LOC102723517, LINC02074, HID1-AS1, TBC1D3E, LOC102724183, THCAT158, LOC102724532, LOC102724596, TBX2-AS1, TMEM92-AS1, ABCA9-AS1, LINC02210-CRHR1, LOC105274304, LOC105371763, LINC02079, LOC105371789, LOC105371795, LINC01974, THRA1/BTR, LINC02086, LOC105371814, LOC105371824, LINC02073, LINC01982, LINC02089, LOC105371849, LOC105371880, LOC105371899, LOC105371907, LINC01977, LOC105371925, LINC01971, SNHG25, CRAT40, SNORD134, SNORA90, LINC01976
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
50.
GRCh37:
Chr17:37356126-43706945
GRCh38:
Chr17:39199873-45629579
ACLY, AOC2, ARL4D, ATP6V0A1, BRCA1, FMNL1, CDC6, CCR7, CNP, CSF3, DHX8, DUSP3, ERBB2, ETV4, EZH1, GAST, FZD2, G6PC, KAT2A, GFAP, CCR10, GRB7, GRN, HCRT, HSD17B1, IFI35, IGFBP4, ITGA2B, JUP, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, NBR1, ADAM11, MEOX1, MPP2, MPP3, NAGLU, NEUROD2, NMT1, PNMT, MED1, PPY, PYY, PSMD3, RAB5C, RARA, RNU2-1, RPL19, RPL27, SHC1P2, SLC4A1, SMARCE1, STAT3, STAT5A, STAT5B, MLX, THRA, TOP2A, DNAJC7, TUBG1, UBTF, RND2, CNTNAP1, TCAP, AOC3, BECN1, KRT38, KRT37, KRT36, HAP1, MAP3K14, EFTUD2, NR1D1, PLEKHM1, MED24, HDAC5, GJC1, PSME3, EIF1, NBR2, RAMP2, VAT1, P3H4, HEXIM1, C1QL1, RUNDC3A, STARD3, CASC3, IKZF3, GPATCH8, KCNH4, FAM215A, KRT23, TUBG2, NKIRAS2, COA3, PSMC3IP, SOST, RAPGEFL1, SLC25A39, HIGD1B, CDK12, KRT20, KLHL11, GSDMB, ATXN7L3, FKBP10, WNK4, C17orf53, TMUB2, DHX58, ACBD4, DCAKD, PLEKHH3, DBF4B, COASY, AARSD1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, TTC25, KRTAP4-12, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, PPP1R1B, MIEN1, VPS25, TMEM101, GHDC, KRTAP4-4, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, G6PC3, ASB16, PGAP3, HSPB9, ORMDL3, PLCD3, TMEM106A, NT5C3B, ZPBP2, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, GJD3, KRT222, KRT40, CD300LG, KIF18B, RUNDC1, LINC02210, LINC00974, WIPF2, KRT25, TMEM99, NAGS, RETREG3, KRT28, KRT24, ARHGAP27, ZNF385C, C17orf105, FAM171A2, MEIOC, GSDMA, CAVIN1, KLHL10, ASB16-AS1, MSL1, KRT27, STAC2, KRT26, LINC00671, CCDC103, KRT39, KRTAP4-11, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, KRTAP2-3, LINC00910, KRTAP4-9, KRTAP4-7, MAP3K14-AS1, RAMP2-AS1, MIR2117, MIR4315-1, LRRC3C, KRTAP9-7, KRTAP16-1, LOC100505782, KRTAP9-6, KRTAP29-1, MIR4728, MIR548AT, MIR5010, LINC00854, PTGES3L, PTGES3L-AARSD1, SNORD124, RUNDC3A-AS1, LINC01180, RARA-AS1, LOC101929767, MIR6781, MIR6782, MIR6784, MIR6867, MIR6780A, MIR6510, MIR6783, MIR6884, MIR6866, LOC102724183, LINC02210-CRHR1, LOC105371789, LOC105371795, LINC01976
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
51.
GRCh37:
Chr17:48563237-65936105
GRCh38:
Chr17:36449220-68170214
ACACA, ACLY, AOC2, APOH, ARL4D, ATP5G1, ATP6V0A1, BRCA1, FMNL1, CA4, CACNB1, CACNG1, CD79B, CDC6, CDC27, CHAD, CLTC, CCR7, CNP, COL1A1, COX11, CRHR1, CSF3, CSH1, CSH2, CSHL1, CYB561, ACE, DDX5, DHX8, DLX3, DLX4, DUSP3, ERBB2, ERN1, ETV4, EZH1, BPTF, GAST, FZD2, G6PC, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, CCR10, GRB7, GRN, HCRT, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, IFI35, IGFBP4, ITGA2B, ITGA3, ITGB3, JUP, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LHX1, LPO, NBR1, MAPT, ADAM11, MAP3K3, MEOX1, MLLT6, MPO, MPP2, MPP3, TRIM37, MYL4, NAGLU, NEUROD2, NFE2L1, NGFR, NME1, NME2, NMT1, NSF, PDK2, PECAM1, PHB, PNMT, SEPT4, MED1, PPY, PRKCA, PSMB3, PYY, PSMC5, PSMD3, PSMD12, RAB5C, RAD51C, RARA, RNU2-1, RPL19, RPL27, RPS6KB1, SCN4A, SRSF1, SGCA, SHC1P2, SLC4A1, SMARCD2, SMARCE1, SP2, STAT3, STAT5A, STAT5B, SUPT4H1, TADA2A, TBX2, HNF1B, MLX, THRA, TOP2A, TRQ-TTG1-1, TRR-CCG2-1, DNAJC7, TUBG1, UBTF, WNT3, WNT9B, PCGF2, TRIM25, VEZF1, RND2, COIL, AKAP1, EPX, AXIN2, PIP4K2B, SPOP, PPM1D, CNTNAP1, DGKE, TCAP, SKAP1, AOC3, BECN1, KRT38, KRT37, KRT36, ABCC3, RGS9, CACNA1G, HAP1, MAP3K14, SPAG9, MTMR4, NOG, TSPOAP1, ZNHIT3, EFTUD2, RPL23, TBX4, NPEPPS, GOSR2, NR1D1, TBKBP1, PLEKHM1, MED24, LRRC37A, MRC2, HELZ, MED13, HDAC5, TOM1L1, GJC1, TOB1, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, HOXB13, VAT1, APPBP2, P3H4, HEXIM1, IGF2BP1, GNA13, C1QL1, RUNDC3A, STARD3, CBX1, TLK2, DDX52, DUSP14, KAT7, POLG2, NXPH3, SNF8, SYNRG, DDX42, CASC3, IKZF3, ZNF652, PPM1E, GPATCH8, KCNH4, MMD, FAM215A, NOL11, KRT23, TANC2, PITPNC1, AATF, OR4D1, CACNG5, CACNG4, TUBG2, NKIRAS2, COA3, PSMC3IP, SNX11, TBX21, SOCS7, SOST, UTP18, RNFT1, TUBD1, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, ARL17A, SLC25A39, MRPS23, PTRH2, LUC7L3, HIGD1B, CDK12, KRT20, MBTD1, BCAS3, CWC25, RNF43, MKS1, LINC00483, EPN3, PNPO, KLHL11, SMG8, TMEM100, RSAD1, LRRC59, PRR11, TEX2, GSDMB, TEX14, CA10, ATXN7L3, CCDC47, PLXDC1, INTS2, ARHGAP23, PCTP, SCPEP1, FKBP10, HEATR6, XYLT2, SMURF2, SPATA20, UBE2Z, WNK4, C17orf53, TMUB2, DHX58, DHRS11, PRR15L, DHX40, ACBD4, DCAKD, GGNBP2, MRM1, PLEKHH3, DBF4B, MYO19, ACSF2, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, TTC25, KRTAP4-12, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, BRIP1, MYCBPAP, PPP1R1B, MIEN1, MRPL45, VPS25, TMEM101, PRAC1, GHDC, KRTAP4-4, KIF2B, USP32, PPP1R9B, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, LRRC46, SCRN2, CEP95, ANKRD40, STRADA, PRR29, G6PC3, ASB16, PGAP3, HSPB9, ORMDL3, PLCD3, TMEM106A, OSBPL7, NT5C3B, FTSJ3, HSF5, OR4D2, MSI2, ZPBP2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, WFIKKN2, FLJ40194, B4GALNT2, EFCAB13, MRPL10, GJD3, KRT222, KRT40, DYNLL2, TCAM1P, EFCAB3, CD300LG, KIF18B, RUNDC1, EME1, LINC02210, LINC00974, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, NAGS, RETREG3, TMEM92, PHOSPHO1, SPPL2C, KRT28, KRT24, CEP112, ARHGAP27, ZNF385C, SAMD14, STH, STXBP4, CACNA1G-AS1, TAC4, C17orf58, MILR1, KANSL1, C17orf105, FAM171A2, MEIOC, TTLL6, PICART1, C17orf47, PIGW, C17orf78, CISD3, GSDMA, CAVIN1, GDPD1, KLHL10, METTL2A, ASB16-AS1, C17orf67, MSL1, NACA2, KRT27, STAC2, SKA2, KRT26, PRAC2, HILS1, LRRC37A3, C17orf98, LINC00671, CCDC103, RPRML, YPEL2, LINC01999, C17orf82, ARL5C, KRT39, TOB1-AS1, PRR29-AS1, CUEDC1, HOXB-AS3, MIR10A, MIR142, MIR152, MIR196A1, MIR21, MIR301A, TBC1D3C, GPR179, LINC02072, LRRC37A2, FBXO47, SNORA21, KANSL1-AS1, WFDC21P, KRTAP4-11, NME1-NME2, SCARNA20, SNORA50C, SNORD104, MIR548D2, MIR633, MIR634, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, FLJ45513, LOC729683, TBC1D3, KRTAP2-3, MIR454, SNORA38B, MAPT-AS1, MAPT-IT1, LINC00910, KRTAP4-9, KRTAP4-7, MAP3K14-AS1, EPOP, TRC-GCA2-2, TRSUP-TTA1-1, TRC-GCA4-1, TRC-GCA2-3, TRN-GTT2-5, TRC-GCA2-4, TRC-GCA14-1, RAMP2-AS1, LOC100288866, MIR1203, MIR2117, MIR4315-2, MIR2909, MIR3185, MIR4315-1, LINC00674, MIR3614, MIR548AA2, LINC00672, LRRC3C, KRTAP9-7, KRTAP16-1, LOC100505782, ARL17B, SP2-AS1, C17orf112, TSPOAP1-AS1, LOC100507002, KRTAP9-6, MIR1273E, KRTAP29-1, MIR4728, MIR4726, MIR4734, MIR4729, MIR4737, MIR4736, MIR3064, MIR5047, MIR4727, MIR548AT, MIR5010, MIR5089, LINC00854, HOXB-AS1, PTGES3L, PTGES3L-AARSD1, TBC1D3K, TBC1D3L, TBC1D3D, SNORD124, RUNDC3A-AS1, LINC01180, LOC101927166, LINC02075, LINC01969, LINC02071, LOC101927539, LOC101927557, CCDC182, LOC101927666, SEPT4-AS1, LINC01476, LOC101927755, LOC101927855, LOC101927877, PRKCA-AS1, LOC101928021, RARA-AS1, LOC101929767, MIR6080, MIR378J, MIR6129, MIR6165, MIR6779, MIR6781, MIR6782, MIR6784, MIR6867, MIR6780A, MIR6510, MIR6783, MIR6884, MIR8059, MIR6866, LOC102723471, TBC1D3E, LOC102724183, THCAT158, LOC102724532, LOC102724596, TBX2-AS1, TMEM92-AS1, LINC02210-CRHR1, LOC105371763, LINC02079, LOC105371789, LOC105371795, LINC01974, THRA1/BTR, LINC02086, LOC105371814, LOC105371824, LINC02073, LINC01982, LINC02089, LOC105371849, SNHG25, CRAT40, SNORA90, LINC01976
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center