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Items: 67

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:124062104
GRCh38:
Chr9:121299826
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr9:124062220
GRCh38:
Chr9:121299942
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr9:124064278
GRCh38:
Chr9:121302000
GSNAmyloidosisGMAF:0.02940(G)
GO-ESP:0.00792(G)
Benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr9:124064372
GRCh38:
Chr9:121302094
GSNAmyloidosisGO-ESP:0.00002(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr9:124064412
GRCh38:
Chr9:121302134
GSNAmyloidosisGMAF:0.00020(A)
GO-ESP:0.00002(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr9:124064452
GRCh38:
Chr9:121302174
GSNAmyloidosisGMAF:0.00440(T)
GO-ESP:0.00124(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr9:124065224
GRCh38:
Chr9:121302946
GSNAmyloidosisGMAF:0.08330(A)
GO-ESP:0.05772(A)
Benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr9:124065235
GRCh38:
Chr9:121302957
GSNAmyloidosisGMAF:0.00280(T)
GO-ESP:0.00154(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr9:124065263
GRCh38:
Chr9:121302985
GSNAmyloidosisGMAF:0.00020(T)
GO-ESP:0.00037(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr9:124072992
GRCh38:
Chr9:121310714
GSNAmyloidosisGMAF:0.00240(A)
GO-ESP:0.00502(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr9:124073097
GRCh38:
Chr9:121310819
GSNMeretoja syndromePathogenic
(Jul 1, 1992)
no assertion criteria provided
12.
GRCh37:
Chr9:124073097
GRCh38:
Chr9:121310819
GSNMeretoja syndromePathogenic
(Jan 1, 2002)
no assertion criteria provided
13.
GRCh37:
Chr9:124074649
GRCh38:
Chr9:121312371
GSNAmyloidosisGO-ESP:0.00001(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr9:124076271
GRCh38:
Chr9:121313993
GSNAmyloidosisGO-ESP:0.00002(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr9:124079391
GRCh38:
Chr9:121317113
GSNAmyloidosisGO-ESP:0.00003(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr9:124081004
GRCh38:
Chr9:121318726
GSNAmyloidosisGO-ESP:0.00004(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr9:124081065
GRCh38:
Chr9:121318787
GSNAmyloidosisGMAF:0.00020(A)
GO-ESP:0.00027(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr9:124081137
GRCh38:
Chr9:121318859
GSNAmyloidosisGO-ESP:0.00013(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr9:124081162
GRCh38:
Chr9:121318884
GSNAmyloidosisGO-ESP:0.00019(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr9:124083579
GRCh38:
Chr9:121321301
GSNAmyloidosisGMAF:0.00040(A)
GO-ESP:0.00110(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr9:124083593
GRCh38:
Chr9:121321315
GSNAmyloidosisGMAF:0.00780(G)
GO-ESP:0.00244(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr9:124083614
GRCh38:
Chr9:121321336
GSNAmyloidosisGMAF:0.08550(T)
GO-ESP:0.06252(T)
Benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr9:124083642
GRCh38:
Chr9:121321364
GSNAmyloidosisGMAF:0.00160(T)
GO-ESP:0.00265(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr9:124088794
GRCh38:
Chr9:121326516
GSNAmyloidosisGMAF:0.00020(A)
GO-ESP:0.00021(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr9:124088860
GRCh38:
Chr9:121326582
GSNAmyloidosisGO-ESP:0.00043(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr9:124088886
GRCh38:
Chr9:121326608
GSNAmyloidosisGMAF:0.00040(A)
GO-ESP:0.00038(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr9:124088908
GRCh38:
Chr9:121326630
GSNAmyloidosisGMAF:0.02380(G)
GO-ESP:0.03421(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr9:124088926
GRCh38:
Chr9:121326648
GSNAmyloidosisGO-ESP:0.00001(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr9:124088928
GRCh38:
Chr9:121326650
GSNAmyloidosisGO-ESP:0.00037(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr9:124088936
GRCh38:
Chr9:121326658
GSNAmyloidosisGO-ESP:0.00045(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr9:124088950
GRCh38:
Chr9:121326672
GSNAmyloidosisGMAF:0.00000(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr9:124089661
GRCh38:
Chr9:121327383
GSNAmyloidosisGMAF:0.00080(A)
GO-ESP:0.00176(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr9:124089692
GRCh38:
Chr9:121327414
GSNAmyloidosisGMAF:0.05550(T)
GO-ESP:0.04785(T)
Benign
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr9:124091188
GRCh38:
Chr9:121328910
GSNAmyloidosisGMAF:0.00120(A)
GO-ESP:0.00042(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr9:124091559
GRCh38:
Chr9:121329281
GSNAmyloidosisGMAF:0.00080(T)
GO-ESP:0.00066(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr9:124091570
GRCh38:
Chr9:121329292
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr9:124093702
GRCh38:
Chr9:121331424
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr9:124094731
GRCh38:
Chr9:121332453
GSNAmyloidosisGO-ESP:0.00025(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr9:124094800
GRCh38:
Chr9:121332522
GSNAmyloidosisGMAF:0.12440(C)
GO-ESP:0.07258(C)
Benign
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr9:124094978-124094979
GRCh38:
Chr9:121332700-121332701
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr9:124094992-124094997
GRCh38:
Chr9:121332714-121332719
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr9:124094994-124094997
GRCh38:
Chr9:121332716-121332719
GSNAmyloidosisBenign
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr9:124094996-124094997
GRCh38:
Chr9:121332718-121332719
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr9:124094997-124094998
GRCh38:
Chr9:121332719-121332720
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr9:124094997-124094998
GRCh38:
Chr9:121332719-121332720
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr9:124095001-124095002
GRCh38:
Chr9:121332723-121332724
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr9:124095005-124095006
GRCh38:
Chr9:121332727-121332728
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr9:124095007
GRCh38:
Chr9:121332729
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr9:124095017
GRCh38:
Chr9:121332739
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr9:124095066
GRCh38:
Chr9:121332788
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr9:124095075
GRCh38:
Chr9:121332797
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr9:124095086
GRCh38:
Chr9:121332808
GSNAmyloidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
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, GGTA1P, 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, IKBKAP, 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, PTENP1, 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, KIAA1161, 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, C9orf69, LRSAM1, IL33, TMEM261, 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, C9orf142, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, MURC, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, C9orf172, LRRC26, TMEM8C, 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, 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
54.
GRCh37:
Chr9:204193-141073897
GRCh38:
Chr9:193412-138179445
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, GGTA1P, 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, IKBKAP, 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, PTENP1, 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, DKFZP434A062, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, SNORA65, SNORD62A, SNORD36C, SNORD36B, SNORD36A, SNORD24, 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, LOC51145, CERCAM, EGFL7, CDKN2A-AS1, 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, PLPPR1, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, IFNK, SH3GLB2, GSN-AS1, REXO4, DOLPP1, KIAA1161, KCNT1, RIC1, LOC100499484-C9ORF174, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, LINC00474, 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, MIR600HG, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, GLIS3-AS1, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, ARRDC1-AS1, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, C9orf69, LRSAM1, IL33, TMEM261, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, LINC00950, 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, DBH-AS1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, C9orf62, C9orf66, LINC00032, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, FAM201A, TRMT10B, TTC16, MIRLET7DHG, FAM120AOS, SAXO1, LINC00475, FREM1, KIAA2026, LINC00961, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, LOC158434, LOC158435, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, AAED1, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, PSMD5-AS1, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, LINC00094, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LOC286238, LCN12, C9orf142, TPRN, LOC286297, TUSC1, FAM225A, FAM78A, LURAP1L, LOC286359, OR13C9, OR13D1, LOC286367, MIR4290HG, FOXD4L3, IFNE, ZDHHC21, ACER2, LOC340512, LINC01501, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, MURC, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, GLIDR, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, PTGES2-AS1, IER5L, CFAP77, LCN15, C9orf172, LRRC26, TMEM8C, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, CCDC187, VLDLR-AS1, LINC01235, HACD4, LINC01242, TMEM215, TOMM5, FAM74A1, FAM74A4, C9orf170, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LOC401554, LOC401557, LINC01451, LCNL1, C9orf139, FAM166A, SOHLH1, PLPP6, LOC403323, ZBTB34, SPATA31B1P, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR147A, MIR181A2, MIR181B2, MIR199B, MIR204, MIR219A2, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, COL5A1-AS1, C9orf106, LINC00587, IDNK, LCN10, CNTFR-AS1, LOC440173, LOC440896, LINC01239, ANKRD20A3, ANKRD20A2, SPATA31C1, NUTM2G, ANKRD18B, STX17-AS1, STPG3, NRARP, FOXB2, CBWD3, C9orf129, PALM2-AKAP2, PAPPA-AS1, C9orf135-AS1, DNAJC25, DNAJC25-GNG10, MIR31HG, LOC554249, PGM5-AS1, MIR491, MIR455, NRON, FAM163B, EHMT1-IT1, RNF224, LINC01189, CBWD6, SPATA31C2, HRCT1, FAM220BP, SPATA31A1, LRRC37A5P, FAM74A6, FOXD4L6, FOXD4L5, SCARNA8, SNORA17A, SNORA17B, SNORD62B, MSMP, SNORD90, MIR600, MIR601, MIR602, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, FAM74A3, CNTNAP3B, LOC728673, ANKRD20A4, LOC730098, FAM166B, TRH-GTG1-6, CDKN2B-AS1, SNORD121A, LINC00583, SNORA84, SNORA70C, MIR876, MIR873, LOC100128361, FAM225B, ASTN2-AS1, LOC100128593, LINC00476, LOC100129034, UNQ6494, TOPORS-AS1, LOC100129316, LINC00484, C9orf92, IZUMO3, STPG3-AS1, FAM205C, LOC100130548, LINC01502, CCDC183-AS1, FAM27E3, LOC100132077, LOC100132249, FAM27C, FAM95B1, LOC100133077, FAM27B, C9orf147, RNU6ATAC, LINC00092, TRR-TCG6-1, TRR-TCT3-1, LOC100272217, VPS13A-AS1, SLC25A25-AS1, FAM27E2, FAM95C, LOC100289279, MAN1B1-AS1, MIR1299, MIR1302-8, MIR2278, PIRC43, MIR181A2HG, MIR3074, MIR4292, MIR3152, MIR3154, MIR2861, MIR4291, MIR3153, MIR4290, MIR4289, CCDC180, MIR3621, MIR3910-1, MIR3689A, MIR3911, MIR3927, MIR3910-2, MIR3689B, MIR3651, LOC100505478, LOC100505588, TMEM210, LOC100506100, LINC01503, LINC00963, LOC100506422, PPP1R26-AS1, GAS1RR, DAPK1-IT1, MAMDC2-AS1, SMC5-AS1, LOC100507346, LINC01504, MSANTD3-TMEFF1, MIR4668, MIR3689D1, MIR4477A, MIR4477B, MIR3689F, MIR4667, MIR4473, MIR4669, MIR4673, MIR3960, MIR4540, MIR4665, MIR4475, MIR4674, MIR4478, MIR3689C, MIR219B, MIR3689D2, MIR4670, MIR4672, MIR4474, MIR4476, MIR3689E, MIR4479, MIR548AW, MIR548AU, RNU6-14P, BANCR, NAMA, FAM74A7, LINC01505, PTENP1-AS, SNORD121B, LOC101448202, DNAJB5-AS1, LOC101926948, LINC01506, LOC101927069, LINC01474, LOC101927358, C9orf41-AS1, GNA14-AS1, LOC101927450, LINC01507, LOC101927502, LOC101927575, LOC101927623, LOC101927827, LOC101927847, LINC01508, LOC101927954, BARX1-AS1, PCAT7, PTCSC2, LOC101928381, LOC101928438, TMEM246-AS1, NALT1, LINC01492, LOC101928523, LOC101928525, SMC2-AS1, HSPC324, PRR31, LINC01509, LOC101928748, LOC101928775, LOC101928786, LOC101928797, LOC101929116, LINC01231, RFX3-AS1, LOC101929331, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, PRRX2-AS1, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, LOC101929748, MIR6722, MIR6851, MIR6852, MIR6854, MIR6856, MIR6877, MIR7150, MIR7702, MIR8081, MIR6853, MIR7114, MIR6081, MIR6855, LOC102723566, LOC102723709, LOC102723971, LOC102724156, LOC102724238, LINC01230, LINC01410, RORB-AS1, LOC103908605, LOC105375972, LINC01627, LOC105376064, LOC105376114, LOC105376194, TTLL11-IT1, LOC105376271, LOC105376306, LOC105376331, LOC105379252, LOC105379450, LOC105379807, XLOC_007697, LINC01613, SNORD137, SNORD141A, LOC107987013
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr9:203862-141020389
GRCh38:
Chr9:203862-138125937
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, GGTA1P, 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, IKBKAP, 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, PTENP1, 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, DKFZP434A062, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, SNORA65, SNORD62A, SNORD36C, SNORD36B, SNORD36A, SNORD24, 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, LOC51145, CERCAM, EGFL7, CDKN2A-AS1, 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, PLPPR1, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, IFNK, SH3GLB2, GSN-AS1, REXO4, DOLPP1, KIAA1161, KCNT1, RIC1, LOC100499484-C9ORF174, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, LINC00474, 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, MIR600HG, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, GLIS3-AS1, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, ARRDC1-AS1, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, C9orf69, LRSAM1, IL33, TMEM261, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, LINC00950, 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, DBH-AS1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, C9orf62, C9orf66, LINC00032, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, FAM201A, TRMT10B, TTC16, MIRLET7DHG, FAM120AOS, SAXO1, LINC00475, FREM1, KIAA2026, LINC00961, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, LOC158434, LOC158435, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, AAED1, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, PSMD5-AS1, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, LINC00094, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LOC286238, LCN12, C9orf142, TPRN, LOC286297, TUSC1, FAM225A, FAM78A, LURAP1L, LOC286359, OR13C9, OR13D1, LOC286367, MIR4290HG, FOXD4L3, IFNE, ZDHHC21, ACER2, LOC340512, LINC01501, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, MURC, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, GLIDR, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, PTGES2-AS1, IER5L, CFAP77, LCN15, C9orf172, LRRC26, TMEM8C, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, CCDC187, VLDLR-AS1, LINC01235, HACD4, LINC01242, TMEM215, TOMM5, FAM74A1, FAM74A4, C9orf170, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LOC401554, LOC401557, LINC01451, LCNL1, C9orf139, FAM166A, SOHLH1, PLPP6, LOC403323, ZBTB34, SPATA31B1P, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR147A, MIR181A2, MIR181B2, MIR199B, MIR204, MIR219A2, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, COL5A1-AS1, C9orf106, LINC00587, IDNK, LCN10, CNTFR-AS1, LOC440173, LOC440896, LINC01239, ANKRD20A3, ANKRD20A2, SPATA31C1, NUTM2G, ANKRD18B, STX17-AS1, STPG3, NRARP, FOXB2, CBWD3, C9orf129, PALM2-AKAP2, PAPPA-AS1, C9orf135-AS1, DNAJC25, DNAJC25-GNG10, MIR31HG, LOC554249, PGM5-AS1, MIR491, MIR455, NRON, FAM163B, EHMT1-IT1, RNF224, LINC01189, CBWD6, SPATA31C2, HRCT1, FAM220BP, SPATA31A1, LRRC37A5P, FAM74A6, FOXD4L6, FOXD4L5, SCARNA8, SNORA17A, SNORA17B, SNORD62B, MSMP, SNORD90, MIR600, MIR601, MIR602, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, FAM74A3, CNTNAP3B, LOC728673, ANKRD20A4, LOC730098, FAM166B, TRH-GTG1-6, CDKN2B-AS1, SNORD121A, LINC00583, SNORA84, SNORA70C, MIR876, MIR873, LOC100128361, FAM225B, ASTN2-AS1, LOC100128593, LINC00476, LOC100129034, UNQ6494, TOPORS-AS1, LOC100129316, LINC00484, C9orf92, IZUMO3, STPG3-AS1, FAM205C, LOC100130548, LINC01502, CCDC183-AS1, FAM27E3, LOC100132077, LOC100132249, FAM27C, FAM95B1, LOC100133077, FAM27B, C9orf147, RNU6ATAC, LINC00092, TRR-TCG6-1, TRR-TCT3-1, LOC100272217, VPS13A-AS1, SLC25A25-AS1, FAM27E2, FAM95C, LOC100289279, MAN1B1-AS1, MIR1299, MIR1302-8, MIR2278, PIRC43, MIR181A2HG, MIR3074, MIR4292, MIR3152, MIR3154, MIR2861, MIR4291, MIR3153, MIR4290, MIR4289, CCDC180, MIR3621, MIR3910-1, MIR3689A, MIR3911, MIR3927, MIR3910-2, MIR3689B, MIR3651, LOC100505478, LOC100505588, TMEM210, LOC100506100, LINC01503, LINC00963, LOC100506422, PPP1R26-AS1, GAS1RR, DAPK1-IT1, MAMDC2-AS1, SMC5-AS1, LOC100507346, LINC01504, MSANTD3-TMEFF1, MIR4668, MIR3689D1, MIR4477A, MIR4477B, MIR3689F, MIR4667, MIR4473, MIR4669, MIR4673, MIR3960, MIR4540, MIR4665, MIR4475, MIR4674, MIR4478, MIR3689C, MIR219B, MIR3689D2, MIR4670, MIR4672, MIR4474, MIR4476, MIR3689E, MIR4479, MIR548AW, MIR548AU, RNU6-14P, BANCR, NAMA, FAM74A7, LINC01505, PTENP1-AS, SNORD121B, LOC101448202, DNAJB5-AS1, LOC101926948, LINC01506, LOC101927069, LINC01474, LOC101927358, C9orf41-AS1, GNA14-AS1, LOC101927450, LINC01507, LOC101927502, LOC101927575, LOC101927623, LOC101927827, LOC101927847, LINC01508, LOC101927954, BARX1-AS1, PCAT7, PTCSC2, LOC101928381, LOC101928438, TMEM246-AS1, NALT1, LINC01492, LOC101928523, LOC101928525, SMC2-AS1, HSPC324, PRR31, LINC01509, LOC101928748, LOC101928775, LOC101928786, LOC101928797, LOC101929116, LINC01231, RFX3-AS1, LOC101929331, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, PRRX2-AS1, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, LOC101929748, MIR6722, MIR6851, MIR6852, MIR6854, MIR6856, MIR6877, MIR7150, MIR7702, MIR8081, MIR6853, MIR7114, MIR6081, MIR6855, LOC102723566, LOC102723709, LOC102723971, LOC102724156, LOC102724238, LINC01230, LINC01410, RORB-AS1, LOC103908605, LOC105375972, LINC01627, LOC105376064, LOC105376114, LOC105376194, TTLL11-IT1, LOC105376271, LOC105376306, LOC105376331, LOC105379252, LOC105379450, LOC105379807, XLOC_007697, LINC01613, SNORD137, SNORD141A, LOC107987013
See casesPathogenicno assertion criteria provided
56.
GRCh37:
Chr9:203861-141020389
GRCh38:
Chr9:203861-138125937
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, GGTA1P, 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, IKBKAP, 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, PTENP1, 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, DKFZP434A062, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, SNORA65, SNORD62A, SNORD36C, SNORD36B, SNORD36A, SNORD24, 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, LOC51145, CERCAM, EGFL7, CDKN2A-AS1, 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, PLPPR1, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, IFNK, SH3GLB2, GSN-AS1, REXO4, DOLPP1, KIAA1161, KCNT1, RIC1, LOC100499484-C9ORF174, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, LINC00474, 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, MIR600HG, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, GLIS3-AS1, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, ARRDC1-AS1, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, C9orf69, LRSAM1, IL33, TMEM261, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, LINC00950, 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, DBH-AS1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, C9orf62, C9orf66, LINC00032, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, FAM201A, TRMT10B, TTC16, MIRLET7DHG, FAM120AOS, SAXO1, LINC00475, FREM1, KIAA2026, LINC00961, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, LOC158434, LOC158435, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, AAED1, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, PSMD5-AS1, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, LINC00094, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LOC286238, LCN12, C9orf142, TPRN, LOC286297, TUSC1, FAM225A, FAM78A, LURAP1L, LOC286359, OR13C9, OR13D1, LOC286367, MIR4290HG, FOXD4L3, IFNE, ZDHHC21, ACER2, LOC340512, LINC01501, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, MURC, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, GLIDR, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, PTGES2-AS1, IER5L, CFAP77, LCN15, C9orf172, LRRC26, TMEM8C, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, CCDC187, VLDLR-AS1, LINC01235, HACD4, LINC01242, TMEM215, TOMM5, FAM74A1, FAM74A4, C9orf170, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LOC401554, LOC401557, LINC01451, LCNL1, C9orf139, FAM166A, SOHLH1, PLPP6, LOC403323, ZBTB34, SPATA31B1P, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR147A, MIR181A2, MIR181B2, MIR199B, MIR204, MIR219A2, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, COL5A1-AS1, C9orf106, LINC00587, IDNK, LCN10, CNTFR-AS1, LOC440173, LOC440896, LINC01239, ANKRD20A3, ANKRD20A2, SPATA31C1, NUTM2G, ANKRD18B, STX17-AS1, STPG3, NRARP, FOXB2, CBWD3, C9orf129, PALM2-AKAP2, PAPPA-AS1, C9orf135-AS1, DNAJC25, DNAJC25-GNG10, MIR31HG, LOC554249, PGM5-AS1, MIR491, MIR455, NRON, FAM163B, EHMT1-IT1, RNF224, LINC01189, CBWD6, SPATA31C2, HRCT1, FAM220BP, SPATA31A1, LRRC37A5P, FAM74A6, FOXD4L6, FOXD4L5, SCARNA8, SNORA17A, SNORA17B, SNORD62B, MSMP, SNORD90, MIR600, MIR601, MIR602, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, FAM74A3, CNTNAP3B, LOC728673, ANKRD20A4, LOC730098, FAM166B, TRH-GTG1-6, CDKN2B-AS1, SNORD121A, LINC00583, SNORA84, SNORA70C, MIR876, MIR873, LOC100128361, FAM225B, ASTN2-AS1, LOC100128593, LINC00476, LOC100129034, UNQ6494, TOPORS-AS1, LOC100129316, LINC00484, C9orf92, IZUMO3, STPG3-AS1, FAM205C, LOC100130548, LINC01502, CCDC183-AS1, FAM27E3, LOC100132077, LOC100132249, FAM27C, FAM95B1, LOC100133077, FAM27B, C9orf147, RNU6ATAC, LINC00092, TRR-TCG6-1, TRR-TCT3-1, LOC100272217, VPS13A-AS1, SLC25A25-AS1, FAM27E2, FAM95C, LOC100289279, MAN1B1-AS1, MIR1299, MIR1302-8, MIR2278, PIRC43, MIR181A2HG, MIR3074, MIR4292, MIR3152, MIR3154, MIR2861, MIR4291, MIR3153, MIR4290, MIR4289, CCDC180, MIR3621, MIR3910-1, MIR3689A, MIR3911, MIR3927, MIR3910-2, MIR3689B, MIR3651, LOC100505478, LOC100505588, TMEM210, LOC100506100, LINC01503, LINC00963, LOC100506422, PPP1R26-AS1, GAS1RR, DAPK1-IT1, MAMDC2-AS1, SMC5-AS1, LOC100507346, LINC01504, MSANTD3-TMEFF1, MIR4668, MIR3689D1, MIR4477A, MIR4477B, MIR3689F, MIR4667, MIR4473, MIR4669, MIR4673, MIR3960, MIR4540, MIR4665, MIR4475, MIR4674, MIR4478, MIR3689C, MIR219B, MIR3689D2, MIR4670, MIR4672, MIR4474, MIR4476, MIR3689E, MIR4479, MIR548AW, MIR548AU, RNU6-14P, BANCR, NAMA, FAM74A7, LINC01505, PTENP1-AS, SNORD121B, LOC101448202, DNAJB5-AS1, LOC101926948, LINC01506, LOC101927069, LINC01474, LOC101927358, C9orf41-AS1, GNA14-AS1, LOC101927450, LINC01507, LOC101927502, LOC101927575, LOC101927623, LOC101927827, LOC101927847, LINC01508, LOC101927954, BARX1-AS1, PCAT7, PTCSC2, LOC101928381, LOC101928438, TMEM246-AS1, NALT1, LINC01492, LOC101928523, LOC101928525, SMC2-AS1, HSPC324, PRR31, LINC01509, LOC101928748, LOC101928775, LOC101928786, LOC101928797, LOC101929116, LINC01231, RFX3-AS1, LOC101929331, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, PRRX2-AS1, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, LOC101929748, MIR6722, MIR6851, MIR6852, MIR6854, MIR6856, MIR6877, MIR7150, MIR7702, MIR8081, MIR6853, MIR7114, MIR6081, MIR6855, LOC102723566, LOC102723709, LOC102723971, LOC102724156, LOC102724238, LINC01230, LINC01410, RORB-AS1, LOC103908605, LOC105375972, LINC01627, LOC105376064, LOC105376114, LOC105376194, TTLL11-IT1, LOC105376271, LOC105376306, LOC105376331, LOC105379252, LOC105379450, LOC105379807, XLOC_007697, LINC01613, SNORD137, SNORD141A, LOC107987013
See casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
57.
GRCh37:
Chr9:68420641-141053525
GRCh38:
Chr9:193412-138159073
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, GGTA1P, 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, IKBKAP, 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, PTENP1, 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, DKFZP434A062, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, SNORA65, SNORD62A, SNORD36C, SNORD36B, SNORD36A, SNORD24, 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, LOC51145, CERCAM, EGFL7, CDKN2A-AS1, 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, PLPPR1, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, IFNK, SH3GLB2, GSN-AS1, REXO4, DOLPP1, KIAA1161, KCNT1, RIC1, LOC100499484-C9ORF174, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, LINC00474, 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, MIR600HG, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, GLIS3-AS1, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, ARRDC1-AS1, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, C9orf69, LRSAM1, IL33, TMEM261, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, LINC00950, 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, DBH-AS1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, C9orf62, C9orf66, LINC00032, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, FAM201A, TRMT10B, TTC16, MIRLET7DHG, FAM120AOS, SAXO1, LINC00475, FREM1, KIAA2026, LINC00961, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, LOC158434, LOC158435, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, AAED1, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, ANKS6, SUSD3, CBWD5, CDC26, PSMD5-AS1, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, LINC00094, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LOC286238, LCN12, C9orf142, TPRN, LOC286297, TUSC1, FAM225A, FAM78A, LURAP1L, LOC286359, OR13C9, OR13D1, LOC286367, MIR4290HG, FOXD4L3, IFNE, ZDHHC21, ACER2, LOC340512, LINC01501, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, MURC, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, GLIDR, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, PTGES2-AS1, IER5L, CFAP77, LCN15, C9orf172, LRRC26, TMEM8C, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, CCDC187, VLDLR-AS1, LINC01235, HACD4, LINC01242, TMEM215, TOMM5, FAM74A1, FAM74A4, C9orf170, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LOC401554, LOC401557, LINC01451, LCNL1, C9orf139, FAM166A, SOHLH1, PLPP6, LOC403323, ZBTB34, SPATA31B1P, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR147A, MIR181A2, MIR181B2, MIR199B, MIR204, MIR219A2, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, COL5A1-AS1, C9orf106, LINC00587, IDNK, LCN10, CNTFR-AS1, LOC440173, LOC440896, LINC01239, ANKRD20A3, ANKRD20A2, SPATA31C1, NUTM2G, ANKRD18B, STX17-AS1, STPG3, NRARP, FOXB2, CBWD3, C9orf129, PALM2-AKAP2, PAPPA-AS1, C9orf135-AS1, DNAJC25, DNAJC25-GNG10, MIR31HG, LOC554249, PGM5-AS1, MIR491, MIR455, NRON, FAM163B, EHMT1-IT1, RNF224, LINC01189, CBWD6, SPATA31C2, HRCT1, FAM220BP, SPATA31A1, LRRC37A5P, FAM74A6, FOXD4L6, FOXD4L5, SCARNA8, SNORA17A, SNORA17B, SNORD62B, MSMP, SNORD90, MIR600, MIR601, MIR602, RNF208, SPATA31A3, SPATA31A5, DNLZ, FAM74A3, CNTNAP3B, LOC728673, ANKRD20A4, LOC730098, FAM166B, TRH-GTG1-6, CDKN2B-AS1, SNORD121A, LINC00583, SNORA84, SNORA70C, MIR876, MIR873, LOC100128361, FAM225B, ASTN2-AS1, LOC100128593, LINC00476, LOC100129034, UNQ6494, TOPORS-AS1, LOC100129316, LINC00484, C9orf92, IZUMO3, STPG3-AS1, FAM205C, LOC100130548, LINC01502, CCDC183-AS1, FAM27E3, LOC100132077, LOC100132249, FAM27C, FAM95B1, LOC100133077, FAM27B, C9orf147, RNU6ATAC, LINC00092, TRR-TCG6-1, TRR-TCT3-1, LOC100272217, VPS13A-AS1, SLC25A25-AS1, FAM27E2, FAM95C, LOC100289279, MAN1B1-AS1, MIR1299, MIR1302-8, MIR2278, PIRC43, MIR181A2HG, MIR3074, MIR4292, MIR3152, MIR3154, MIR2861, MIR4291, MIR3153, MIR4290, MIR4289, CCDC180, MIR3621, MIR3910-1, MIR3689A, MIR3911, MIR3927, MIR3910-2, MIR3689B, MIR3651, LOC100505478, LOC100505588, TMEM210, LOC100506100, LINC01503, LINC00963, LOC100506422, PPP1R26-AS1, GAS1RR, DAPK1-IT1, MAMDC2-AS1, SMC5-AS1, LOC100507346, LINC01504, MSANTD3-TMEFF1, MIR4668, MIR3689D1, MIR4477A, MIR4477B, MIR3689F, MIR4667, MIR4473, MIR4669, MIR4673, MIR3960, MIR4540, MIR4665, MIR4475, MIR4674, MIR4478, MIR3689C, MIR219B, MIR3689D2, MIR4670, MIR4672, MIR4474, MIR4476, MIR3689E, MIR4479, MIR548AW, MIR548AU, RNU6-14P, BANCR, NAMA, FAM74A7, LINC01505, PTENP1-AS, SNORD121B, LOC101448202, DNAJB5-AS1, LOC101926948, LINC01506, LOC101927069, LINC01474, LOC101927358, C9orf41-AS1, GNA14-AS1, LOC101927450, LINC01507, LOC101927502, LOC101927575, LOC101927623, LOC101927827, LOC101927847, LINC01508, LOC101927954, BARX1-AS1, PCAT7, PTCSC2, LOC101928381, LOC101928438, TMEM246-AS1, NALT1, LINC01492, LOC101928523, LOC101928525, SMC2-AS1, HSPC324, PRR31, LINC01509, LOC101928748, LOC101928775, LOC101928786, LOC101928797, LOC101929116, LINC01231, RFX3-AS1, LOC101929331, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, PRRX2-AS1, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, LOC101929748, MIR6722, MIR6851, MIR6852, MIR6854, MIR6856, MIR6877, MIR7150, MIR7702, MIR8081, MIR6853, MIR7114, MIR6081, MIR6855, LOC102723566, LOC102723709, LOC102723971, LOC102724156, LOC102724238, LINC01230, LINC01410, RORB-AS1, LOC103908605, LOC105375972, LINC01627, LOC105376064, LOC105376114, LOC105376194, TTLL11-IT1, LOC105376271, LOC105376306, LOC105376331, LOC105379252, LOC105379450, LOC105379807, XLOC_007697, LINC01613, SNORD137, SNORD141A, LOC107987013
See casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
58.
GRCh37:
Chr9:204104-141053525
GRCh38:
Chr9:193412-138159073
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, GGTA1P, 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, IKBKAP, 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, PTENP1, 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, DKFZP434A062, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, SNORA65, SNORD62A, SNORD36C, SNORD36B, SNORD36A, SNORD24, 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, LOC51145, CERCAM, EGFL7, CDKN2A-AS1, UBAP1, GOLM1,