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Items: 44

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
G6PC3Severe congenital neutropenia 4, autosomal recessivePathogenic
(Jan 1, 2009)
no assertion criteria provided
2.
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
3.
GRCh37:
Chr17:42148103
GRCh38:
Chr17:44070735
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr17:42148140
GRCh38:
Chr17:44070772
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr17:42148143
GRCh38:
Chr17:44070775
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr17:42148170
GRCh38:
Chr17:44070802
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr17:42148172
GRCh38:
Chr17:44070804
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr17:42148182
GRCh38:
Chr17:44070814
G6PC3Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr17:42148205
GRCh38:
Chr17:44070837
G6PC3Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr17:42148463
GRCh38:
Chr17:44071095
G6PC3Severe congenital neutropenia 4, autosomal recessivePathogenic
(Jan 18, 2015)
no assertion criteria provided
11.
GRCh37:
Chr17:42148474
GRCh38:
Chr17:44071106
G6PC3Severe congenital neutropenia 4, autosomal recessivePathogenic
(Jan 1, 2009)
no assertion criteria provided
12.
GRCh37:
Chr17:42148520
GRCh38:
Chr17:44071152
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr17:42148534
GRCh38:
Chr17:44071166
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr17:42148543
GRCh38:
Chr17:44071175
G6PC3Severe congenital neutropenia 4, autosomal recessivePathogenic
(Jan 18, 2015)
no assertion criteria provided
15.
GRCh37:
Chr17:42151478
GRCh38:
Chr17:44074110
G6PC3not specifiedLikely benigncriteria provided, single submitter
16.
GRCh37:
Chr17:42151515
GRCh38:
Chr17:44074147
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr17:42152068
GRCh38:
Chr17:44074700
G6PC3Dursun syndromePathogenic
(Oct 1, 2010)
no assertion criteria provided
18.
GRCh37:
Chr17:42152099
GRCh38:
Chr17:44074731
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr17:42152103
GRCh38:
Chr17:44074735
G6PC3not specified, Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr17:42152128
GRCh38:
Chr17:44074760
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr17:42152129
GRCh38:
Chr17:44074761
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr17:42152143
GRCh38:
Chr17:44074775
G6PC3Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr17:42152696
GRCh38:
Chr17:44075328
G6PC3Severe congenital neutropenia 4, autosomal recessivePathogenic
(Jan 1, 2009)
no assertion criteria provided
24.
GRCh37:
Chr17:42152708
GRCh38:
Chr17:44075340
G6PC3not specifiedLikely benigncriteria provided, single submitter
25.
GRCh37:
Chr17:42152789
GRCh38:
Chr17:44075421
G6PC3Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr17:42152810
GRCh38:
Chr17:44075442
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr17:42153097
GRCh38:
Chr17:44075729
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr17:42153128
GRCh38:
Chr17:44075760
G6PC3Severe congenital neutropenia 4, autosomal recessivePathogenic
(Jan 18, 2015)
no assertion criteria provided
29.
GRCh37:
Chr17:42153148
GRCh38:
Chr17:44075780
G6PC3Severe congenital neutropenia 4, autosomal recessivePathogenic
(Jan 18, 2015)
no assertion criteria provided
30.
GRCh37:
Chr17:42153154
GRCh38:
Chr17:44075786
G6PC3Severe congenital neutropenia 4, autosomal recessivePathogenic
(Jan 1, 2009)
no assertion criteria provided
31.
GRCh37:
Chr17:42153185
GRCh38:
Chr17:44075817
G6PC3Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr17:42153199
GRCh38:
Chr17:44075831
G6PC3Severe congenital neutropenia 4, autosomal recessivePathogenic
(Jan 18, 2015)
no assertion criteria provided
33.
GRCh37:
Chr17:42153296
GRCh38:
Chr17:44075928
G6PC3not providedLikely pathogenic
(Dec 21, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr17:42153305
GRCh38:
Chr17:44075937
G6PC3Severe congenital neutropenia 4, autosomal recessivePathogenic
(Jan 18, 2015)
no assertion criteria provided
35.
GRCh37:
Chr17:42153413
GRCh38:
Chr17:44076045
G6PC3not specified, Severe congenital neutropeniaConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr17:42153415-42153417
GRCh38:
Chr17:44076047-44076049
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr17:42153562
GRCh38:
Chr17:44076194
G6PC3Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr17:42153645
GRCh38:
Chr17:44076277
G6PC3Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
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
40.
GRCh37:
Chr17:42011535-42931393
GRCh38:
Chr17:43934167-44854025
See casesPathogenic
(Jan 24, 2011)
no assertion criteria provided
41.
GRCh37:
Chr17:41648246-42839745
GRCh38:
Chr17:43570878-44762377
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
42.
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
43.
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
44.
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
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