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Items: 74

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:12694103
GRCh38:
Chr9:12694103
TYRP1Oculocutaneous albinism type 3Pathogenic
(Jun 1, 2006)
no assertion criteria provided
2.
GRCh37:
Chr9:12694273
GRCh38:
Chr9:12694273
TYRP1Skin/hair/eye pigmentation, variation in, 11GMAF:0.00020(T)Affects
(May 4, 2012)
no assertion criteria provided
3.
GRCh37:
Chr9:12694274
GRCh38:
Chr9:12694274
TYRP1not specifiedGMAF:0.00200(A)Benign
(Nov 7, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr9:12695626
GRCh38:
Chr9:12695626
TYRP1Oculocutaneous albinism type 3, OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OFGO-ESP:0.00054(G)Pathogenic, risk factor
(Sep 15, 2008)
no assertion criteria provided
5.
GRCh37:
Chr9:12698527
GRCh38:
Chr9:12698527
TYRP1not providedGMAF:0.00040(T)Uncertain significance
(Nov 10, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr9:12702414-12702417
GRCh38:
Chr9:12702414-12702417
TYRP1, LURAP1L-AS1Oculocutaneous albinism type 3Pathogenic
(Aug 4, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr9:12702424
GRCh38:
Chr9:12702424
TYRP1, LURAP1L-AS1Oculocutaneous albinism type 3Pathogenic
(Jun 1, 2006)
no assertion criteria provided
8.
GRCh37:
Chr9:12704547
GRCh38:
Chr9:12704547
TYRP1, LURAP1L-AS1Oculocutaneous albinism type 3Pathogenic
(Nov 1, 1997)
no assertion criteria provided
9.
GRCh37:
Chr9:12704564
GRCh38:
Chr9:12704564
TYRP1, LURAP1L-AS1Oculocutaneous albinism type 3Pathogenic
(Aug 1, 2005)
no assertion criteria provided
10.
GRCh37:
Chr9:12704582
GRCh38:
Chr9:12704582
TYRP1, LURAP1L-AS1not specifiedGMAF:0.00120(T)Uncertain significance
(Feb 26, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr9:12704589
GRCh38:
Chr9:12704589
TYRP1, LURAP1L-AS1Oculocutaneous albinism type 3Likely pathogenic
(Jul 28, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr9:12708979
GRCh38:
Chr9:12708979
TYRP1, LURAP1L-AS1not specifiedGMAF:0.00040(T)Uncertain significance
(May 15, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr9:12709068
GRCh38:
Chr9:12709068
TYRP1, LURAP1L-AS1not specifiedGMAF:0.00560(A)Benign
(Dec 11, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr9:12709125
GRCh38:
Chr9:12709125
TYRP1, LURAP1L-AS1not specifiedGMAF:0.01340(G)Benign
(Jan 8, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr9:204193-38815475
GRCh38:
Chr9:204193-38815478
ACO1, PLIN2, ALDH1B1, NUDT2, AQP3, AQP7, BAG1, CA9, CCIN, CD72, CDKN2A, CDKN2B, CLTA, CNTFR, DMRT1, ELAVL2, FANCG, MLANA, GALT, B4GALT1, GLDC, DNAJA1, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, MLLT3, MTAP, NDUFB6, NFIB, NFX1, NPR2, PAX5, PRSS3, PTPRD, RFX3, RLN1, RLN2, RMRP, RPS6, CCL19, CCL21, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, TEK, TESK1, TLN1, TPM2, TYRP1, VCP, VLDLR, RECK, MPDZ, CER1, PLAA, GRHPR, RGP1, MELK, RUSC2, ZBTB5, PUM3, GNE, RCL1, TOPORS, SIGMAR1, CREB3, UNC13B, DMRT2, RRAGA, CCL27, PSIP1, INSL6, PTENP1, DCTN3, FRMPD1, KDM4C, KANK1, PHF24, DDX58, SLC24A2, DNAJB5, DCAF12, SPAG8, FBXO10, RANBP6, DNAI1, SIT1, SPINK4, CD274, STOML2, AK3, EXOSC3, CDKN2A-AS1, UBAP1, CHMP5, TMEM8B, EQTN, BNC2, HAUS6, APTX, CNTLN, FOCAD, UBE2R2, SPATA6L, SMU1, CDC37L1, DENND4C, UBAP2, PLGRKT, KLHL9, OR2S2, IFNK, KIAA1161, RIC1, GBA2, DMRT3, DMRTA1, POLR1E, LRRC19, NOL6, DCAF10, MOB3B, CAAP1, ERMP1, IFT74, FAM214B, PDCD1LG2, DOCK8, ZCCHC7, HINT2, C9orf24, PIGO, GLIS3-AS1, ARHGEF39, TPD52L3, IL33, TMEM261, SLC25A51, ADAMTSL1, LINC00950, UHRF2, TAF1L, ARID3C, RPP25L, C9orf131, RNF38, GLIPR2, C9orf66, LINC00032, LINGO2, TTC39B, FAM201A, TRMT10B, SAXO1, FREM1, KIAA2026, LINC00961, KCNV2, GLIS3, C9orf72, CCDC171, FAM219A, CCDC107, ANKRD18A, FAM205A, TUSC1, LURAP1L, IFNE, ZDHHC21, ACER2, KIF24, IGFBPL1, ENHO, FAM221B, OR13J1, VLDLR-AS1, LINC01235, HACD4, LINC01242, TMEM215, TOMM5, PLPP6, MIR101-2, MIR31, CNTFR-AS1, LINC01239, ANKRD18B, MIR31HG, MIR491, HRCT1, SCARNA8, MSMP, LOC730098, FAM166B, TRH-GTG1-6, CDKN2B-AS1, SNORD121A, LINC00583, MIR876, MIR873, TOPORS-AS1, C9orf92, IZUMO3, FAM205C, FAM95C, MIR3152, LOC100506422, MIR4667, MIR4473, MIR4540, MIR4665, MIR4475, MIR4474, MIR4476, RNU6-14P, PTENP1-AS, SNORD121B, DNAJB5-AS1, LOC101926948, LINC01231, RFX3-AS1, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, MIR6851, MIR6852, MIR6853, LINC01230, LOC105375972, SNORD137
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
16.
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, C9orf114, 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, FAM73B, 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, C9orf91, 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, 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, C9orf173-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, 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, LOC105376064, LOC105376114, LOC105376194, TTLL11-IT1, LOC105376271, LOC105376306, LOC105376331, LOC105379252, LOC105379450, XLOC_007697, LINC01613, SNORD137, SNORD141A, LOC107987013
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts
17.
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, C9orf114, 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, FAM73B, 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, C9orf91, 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, 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, C9orf173-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, 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, LOC105376064, LOC105376114, LOC105376194, TTLL11-IT1, LOC105376271, LOC105376306, LOC105376331, LOC105379252, LOC105379450, XLOC_007697, LINC01613, SNORD137, SNORD141A, LOC107987013
See casesPathogenicno assertion criteria provided
18.
GRCh37:
Chr9:203861-38381639
GRCh38:
Chr9:203861-38381642
ACO1, PLIN2, NUDT2, AQP3, AQP7, BAG1, CA9, CCIN, CD72, CDKN2A, CDKN2B, CLTA, CNTFR, DMRT1, ELAVL2, FANCG, MLANA, GALT, B4GALT1, GLDC, DNAJA1, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, MLLT3, MTAP, NDUFB6, NFIB, NFX1, NPR2, PAX5, PRSS3, PTPRD, RFX3, RLN1, RLN2, RMRP, RPS6, CCL19, CCL21, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, TEK, TESK1, TLN1, TPM2, TYRP1, VCP, VLDLR, RECK, MPDZ, CER1, PLAA, GRHPR, RGP1, MELK, RUSC2, ZBTB5, PUM3, GNE, RCL1, TOPORS, SIGMAR1, CREB3, UNC13B, DMRT2, RRAGA, CCL27, PSIP1, INSL6, PTENP1, DCTN3, FRMPD1, KDM4C, KANK1, PHF24, DDX58, SLC24A2, DNAJB5, DCAF12, SPAG8, FBXO10, RANBP6, DNAI1, SIT1, SPINK4, CD274, STOML2, AK3, EXOSC3, CDKN2A-AS1, UBAP1, CHMP5, TMEM8B, EQTN, BNC2, HAUS6, APTX, CNTLN, FOCAD, UBE2R2, SPATA6L, SMU1, CDC37L1, DENND4C, UBAP2, PLGRKT, KLHL9, OR2S2, IFNK, KIAA1161, RIC1, GBA2, DMRT3, DMRTA1, POLR1E, LRRC19, NOL6, DCAF10, MOB3B, CAAP1, ERMP1, IFT74, FAM214B, PDCD1LG2, DOCK8, ZCCHC7, HINT2, C9orf24, PIGO, GLIS3-AS1, ARHGEF39, TPD52L3, IL33, TMEM261, SLC25A51, ADAMTSL1, LINC00950, UHRF2, TAF1L, ARID3C, RPP25L, C9orf131, RNF38, GLIPR2, C9orf66, LINC00032, LINGO2, TTC39B, TRMT10B, SAXO1, FREM1, KIAA2026, LINC00961, KCNV2, GLIS3, C9orf72, CCDC171, FAM219A, CCDC107, FAM205A, TUSC1, LURAP1L, IFNE, ZDHHC21, ACER2, KIF24, ENHO, FAM221B, OR13J1, VLDLR-AS1, LINC01235, HACD4, LINC01242, TMEM215, TOMM5, PLPP6, MIR101-2, MIR31, CNTFR-AS1, LINC01239, ANKRD18B, MIR31HG, MIR491, HRCT1, SCARNA8, MSMP, LOC730098, FAM166B, TRH-GTG1-6, CDKN2B-AS1, SNORD121A, LINC00583, MIR876, MIR873, TOPORS-AS1, C9orf92, IZUMO3, FAM205C, MIR3152, LOC100506422, MIR4667, MIR4473, MIR4540, MIR4665, MIR4475, MIR4474, MIR4476, RNU6-14P, PTENP1-AS, SNORD121B, DNAJB5-AS1, LOC101926948, LINC01231, RFX3-AS1, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, MIR6851, MIR6852, MIR6853, LINC01230, LOC105375972, SNORD137
See casesPathogenic
(Apr 29, 2013)
no assertion criteria provided
19.
GRCh37:
Chr9:204104-82492731
GRCh38:
Chr9:193412-79877816
ACO1, PLIN2, ALDH1A1, ALDH1B1, ANXA1, NUDT2, APBA1, AQP3, AQP7, BAG1, KLF9, CA9, CCIN, CD72, CDKN2A, CDKN2B, CLTA, CNTFR, DMRT1, ELAVL2, FANCG, MLANA, FXN, GALT, GCNT1, B4GALT1, GLDC, GNAQ, DNAJA1, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, MLLT3, MTAP, NDUFB6, NFIB, NFX1, NPR2, PAX5, PCSK5, PGM5, PRKACG, PRSS3, PTPRD, RFX3, RLN1, RLN2, RMRP, RORB, RPS6, CCL19, CCL21, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, TEK, TESK1, TLE4, TLN1, TPM2, TYRP1, VCP, VLDLR, ZFAND5, PIP5K1B, RECK, MPDZ, CER1, PLAA, GRHPR, FAM189A2, TJP2, GDA, GNA14, RGP1, MELK, RUSC2, ZBTB5, PUM3, GNE, RCL1, TOPORS, SIGMAR1, CREB3, UNC13B, DMRT2, RRAGA, CCL27, PSIP1, INSL6, PTENP1, DCTN3, FRMPD1, KDM4C, SMC5, KANK1, VPS13A, PHF24, DDX58, TMEM2, SLC24A2, DNAJB5, DCAF12, ZNF658, SPATA31A7, SPAG8, FBXO10, OSTF1, RANBP6, DNAI1, SIT1, SPINK4, CD274, PSAT1, STOML2, PCA3, AK3, EXOSC3, ABHD17B, CDKN2A-AS1, UBAP1, CHMP5, TMEM8B, EQTN, BNC2, HAUS6, APTX, CNTLN, FOCAD, UBE2R2, NMRK1, SPATA6L, C9orf40, SMU1, RFK, CDC37L1, DENND4C, UBAP2, PLGRKT, KLHL9, OR2S2, IFNK, KIAA1161, RIC1, GBA2, DMRT3, DMRTA1, POLR1E, LRRC19, NOL6, DCAF10, MOB3B, CAAP1, CNTNAP3, ERMP1, TRPM3, IFT74, FAM214B, PDCD1LG2, DOCK8, CEP78, ZCCHC7, ANKRD20A1, HINT2, C9orf24, PIGO, GLIS3-AS1, ARHGEF39, TPD52L3, IL33, TMEM261, SLC25A51, ADAMTSL1, LINC00950, UHRF2, FAM122A, TMC1, CARNMT1, C9orf57, C9orf85, C9orf135, TAF1L, ARID3C, RPP25L, C9orf131, TRPM6, RNF38, GLIPR2, C9orf66, LINC00032, LINGO2, TTC39B, FAM201A, TRMT10B, SAXO1, FREM1, KIAA2026, LINC00961, PRUNE2, KCNV2, TMEM252, GLIS3, C9orf72, CCDC171, FAM219A, CCDC107, LINC00537, CBWD5, ANKRD18A, MAMDC2, FAM205A, LOC286297, TUSC1, LURAP1L, FOXD4L3, IFNE, ZDHHC21, ACER2, KIF24, IGFBPL1, FOXD4L4, ENHO, PTAR1, SPATA31A6, GLIDR, FAM221B, OR13J1, VLDLR-AS1, LINC01235, HACD4, LINC01242, TMEM215, TOMM5, FAM74A1, FAM74A4, PLPP6, LOC403323, MIR101-2, MIR204, MIR31, CNTFR-AS1, LOC440896, LINC01239, ANKRD20A3, ANKRD20A2, ANKRD18B, FOXB2, CBWD3, C9orf135-AS1, MIR31HG, LOC554249, PGM5-AS1, MIR491, LINC01189, CBWD6, HRCT1, SPATA31A1, FAM74A6, FOXD4L6, FOXD4L5, SCARNA8, MSMP, FAM27D1, SPATA31A3, SPATA31A5, CBWD7, FAM74A3, CNTNAP3B, LOC728673, ANKRD20A4, LOC730098, FAM166B, TRH-GTG1-6, CDKN2B-AS1, SNORD121A, LINC00583, MIR876, MIR873, TOPORS-AS1, C9orf92, IZUMO3, FAM205C, FAM27E3, LOC100132249, FAM27C, FAM95B1, FAM27B, VPS13A-AS1, FAM27E2, FAM95C, LOC100289279, MIR1299, PIRC43, MIR3152, LOC100506422, MAMDC2-AS1, SMC5-AS1, LINC01504, MIR4477A, MIR4477B, MIR4667, MIR4473, MIR4540, MIR4665, MIR4475, MIR4474, MIR4476, RNU6-14P, BANCR, FAM74A7, PTENP1-AS, SNORD121B, DNAJB5-AS1, LOC101926948, LINC01506, LOC101927069, LINC01474, LOC101927358, C9orf41-AS1, GNA14-AS1, LOC101927450, LINC01507, LOC101927827, LOC101928381, LINC01231, RFX3-AS1, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, MIR6851, MIR6852, MIR6853, LOC102723709, LOC102724238, LINC01230, LINC01410, RORB-AS1, LOC103908605, LOC105375972, LOC105376064, LOC105379252, LOC105379450, XLOC_007697, SNORD137
See casesPathogenic
(Aug 20, 2012)
no assertion criteria provided
20.
GRCh37:
Chr9:204090-15260598
GRCh38:
Chr9:204090-15260600
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
21.
GRCh37:
Chr9:12449564-12739192
GRCh38:
Chr9:12449564-12739193
TYRP1, LURAP1L-AS1See casesUncertain significance
(Sep 18, 2013)
no assertion criteria provided
22.
GRCh37:
Chr9:203861-90745359
GRCh38:
Chr9:203861-88130444
ACO1, PLIN2, ALDH1A1, ALDH1B1, ANXA1, NUDT2, APBA1, AQP3, AQP7, BAG1, KLF9, CA9, CCIN, CD72, CDKN2A, CDKN2B, CLTA, CNTFR, CTSL, DAPK1, DMRT1, ELAVL2, FANCG, MLANA, FXN, GALT, GAS1, GCNT1, B4GALT1, GLDC, GNAQ, HNRNPK, DNAJA1, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, MLLT3, MTAP, NDUFB6, NFIB, NFX1, NPR2, NTRK2, PAX5, PCSK5, PGM5, PRKACG, PRSS3, PTPRD, RFX3, RLN1, RLN2, RMRP, RORB, RPS6, CCL19, CCL21, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, TEK, TESK1, TLE1, TLE4, TLN1, TPM2, TYRP1, VCP, VLDLR, ZFAND5, PIP5K1B, RECK, MPDZ, CER1, PLAA, GRHPR, FAM189A2, TJP2, GDA, GNA14, RGP1, MELK, RUSC2, ZBTB5, PUM3, GNE, RCL1, TOPORS, SIGMAR1, CREB3, UNC13B, DMRT2, RRAGA, CCL27, PSIP1, INSL6, PTENP1, DCTN3, FRMPD1, KDM4C, SMC5, KANK1, VPS13A, AGTPBP1, PHF24, CDK20, DDX58, TMEM2, SLC24A2, DNAJB5, DCAF12, ZNF658, SPATA31A7, SPAG8, FBXO10, OSTF1, RANBP6, DNAI1, SIT1, SPINK4, CD274, PSAT1, UBQLN1, STOML2, PCA3, AK3, EXOSC3, ABHD17B, CDKN2A-AS1, UBAP1, GOLM1, CHMP5, TMEM8B, EQTN, BNC2, HAUS6, APTX, CNTLN, FOCAD, UBE2R2, NMRK1, SPATA6L, C9orf40, SMU1, RFK, KIF27, CDC37L1, DENND4C, UBAP2, PLGRKT, KLHL9, OR2S2, IFNK, KIAA1161, RIC1, GBA2, DMRT3, NAA35, DMRTA1, SLC28A3, POLR1E, LRRC19, NOL6, DCAF10, ZCCHC6, MOB3B, CAAP1, CNTNAP3, ERMP1, RMI1, TRPM3, IFT74, FAM214B, GKAP1, PDCD1LG2, ISCA1, DOCK8, CEP78, ZCCHC7, ANKRD20A1, C9orf64, HINT2, C9orf24, PIGO, GLIS3-AS1, ARHGEF39, TPD52L3, IL33, TMEM261, SLC25A51, ADAMTSL1, LINC00950, UHRF2, FAM122A, TMC1, CARNMT1, C9orf57, C9orf85, C9orf135, TAF1L, ARID3C, RPP25L, C9orf131, TRPM6, RNF38, GLIPR2, C9orf66, LINC00032, LINGO2, RASEF, TTC39B, FAM201A, TRMT10B, SAXO1, FREM1, KIAA2026, LINC00961, PRUNE2, KCNV2, TMEM252, GLIS3, C9orf72, CCDC171, FAM219A, CCDC107, LINC00537, CBWD5, ANKRD18A, MAMDC2, FRMD3, FAM205A, SPATA31E1, LOC286297, TUSC1, LURAP1L, FOXD4L3, IFNE, ZDHHC21, ACER2, KIF24, IGFBPL1, FOXD4L4, ENHO, PTAR1, SPATA31A6, GLIDR, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, FAM221B, OR13J1, VLDLR-AS1, LINC01235, HACD4, LINC01242, TMEM215, TOMM5, FAM74A1, FAM74A4, C9orf170, PLPP6, LOC403323, SPATA31B1P, MIR101-2, MIR204, MIR31, MIR7-1, IDNK, CNTFR-AS1, LOC440173, LOC440896, LINC01239, ANKRD20A3, ANKRD20A2, SPATA31C1, ANKRD18B, FOXB2, CBWD3, C9orf135-AS1, MIR31HG, LOC554249, PGM5-AS1, MIR491, LINC01189, CBWD6, SPATA31C2, HRCT1, SPATA31A1, FAM74A6, FOXD4L6, FOXD4L5, SCARNA8, MSMP, FAM27D1, SPATA31A3, SPATA31A5, CBWD7, FAM74A3, CNTNAP3B, LOC728673, ANKRD20A4, LOC730098, FAM166B, TRH-GTG1-6, CDKN2B-AS1, SNORD121A, LINC00583, MIR876, MIR873, TOPORS-AS1, C9orf92, IZUMO3, FAM205C, FAM27E3, LOC100132249, FAM27C, FAM95B1, FAM27B, VPS13A-AS1, FAM27E2, FAM95C, LOC100289279, MIR1299, PIRC43, MIR3152, LOC100506422, GAS1RR, DAPK1-IT1, MAMDC2-AS1, SMC5-AS1, LINC01504, MIR4477A, MIR4477B, MIR4667, MIR4473, MIR4540, MIR4665, MIR4475, MIR4474, MIR4476, RNU6-14P, BANCR, FAM74A7, PTENP1-AS, SNORD121B, DNAJB5-AS1, LOC101926948, LINC01506, LOC101927069, LINC01474, LOC101927358, C9orf41-AS1, GNA14-AS1, LOC101927450, LINC01507, LOC101927502, LOC101927575, LOC101927623, LOC101927827, LOC101928381, LINC01231, RFX3-AS1, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, MIR6851, MIR6852, MIR6853, LOC102723709, LOC102724156, LOC102724238, LINC01230, LINC01410, RORB-AS1, LOC103908605, LOC105375972, LOC105376064, LOC105376114, LOC105379252, LOC105379450, XLOC_007697, SNORD137
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
23.
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, C9orf114, 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, FAM73B, 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, C9orf91, 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, 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, C9orf173-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, 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, LOC105376064, LOC105376114, LOC105376194, TTLL11-IT1, LOC105376271, LOC105376306, LOC105376331, LOC105379252, LOC105379450, XLOC_007697, LINC01613, SNORD137, SNORD141A, LOC107987013
See casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
24.
GRCh37:
Chr9:203861-31423871
GRCh38:
Chr9:203861-31423873
See casesPathogenic
(Mar 24, 2014)
no assertion criteria provided
25.
GRCh37:
Chr9:322690-16401654
GRCh38:
Chr9:322690-16401656
See casesPathogenic
(Oct 15, 2012)
no assertion criteria provided
26.
GRCh37:
Chr9:204104-27963367
GRCh38:
Chr9:204104-27963369
See casesPathogenic
(Sep 4, 2012)
no assertion criteria provided
27.
GRCh37:
Chr9:204104-66516698
GRCh38:
Chr9:204104-67549861
ACO1, PLIN2, ALDH1B1, NUDT2, AQP3, AQP7, BAG1, CA9, CCIN, CD72, CDKN2A, CDKN2B, CLTA, CNTFR, DMRT1, ELAVL2, FANCG, MLANA, GALT, B4GALT1, GLDC, DNAJA1, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, MLLT3, MTAP, NDUFB6, NFIB, NFX1, NPR2, PAX5, PRSS3, PTPRD, RFX3, RLN1, RLN2, RMRP, RPS6, CCL19, CCL21, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, TEK, TESK1, TLN1, TPM2, TYRP1, VCP, VLDLR, RECK, MPDZ, CER1, PLAA, GRHPR, RGP1, MELK, RUSC2, ZBTB5, PUM3, GNE, RCL1, TOPORS, SIGMAR1, CREB3, UNC13B, DMRT2, RRAGA, CCL27, PSIP1, INSL6, PTENP1, DCTN3, FRMPD1, KDM4C, KANK1, PHF24, DDX58, SLC24A2, DNAJB5, DCAF12, ZNF658, SPATA31A7, SPAG8, FBXO10, RANBP6, DNAI1, SIT1, SPINK4, CD274, STOML2, AK3, EXOSC3, CDKN2A-AS1, UBAP1, CHMP5, TMEM8B, EQTN, BNC2, HAUS6, APTX, CNTLN, FOCAD, UBE2R2, SPATA6L, SMU1, CDC37L1, DENND4C, UBAP2, PLGRKT, KLHL9, OR2S2, IFNK, KIAA1161, RIC1, GBA2, DMRT3, DMRTA1, POLR1E, LRRC19, NOL6, DCAF10, MOB3B, CAAP1, CNTNAP3, ERMP1, IFT74, FAM214B, PDCD1LG2, DOCK8, ZCCHC7, HINT2, C9orf24, PIGO, GLIS3-AS1, ARHGEF39, TPD52L3, IL33, TMEM261, SLC25A51, ADAMTSL1, LINC00950, UHRF2, TAF1L, ARID3C, RPP25L, C9orf131, RNF38, GLIPR2, C9orf66, LINC00032, LINGO2, TTC39B, FAM201A, TRMT10B, SAXO1, FREM1, KIAA2026, LINC00961, KCNV2, GLIS3, C9orf72, CCDC171, FAM219A, CCDC107, CBWD5, ANKRD18A, FAM205A, LOC286297, TUSC1, LURAP1L, IFNE, ZDHHC21, ACER2, KIF24, IGFBPL1, FOXD4L4, ENHO, SPATA31A6, GLIDR, FAM221B, OR13J1, VLDLR-AS1, LINC01235, HACD4, LINC01242, TMEM215, TOMM5, FAM74A1, FAM74A4, PLPP6, LOC403323, MIR101-2, MIR31, CNTFR-AS1, LOC440896, LINC01239, ANKRD20A3, ANKRD20A2, ANKRD18B, MIR31HG, LOC554249, MIR491, LINC01189, CBWD6, HRCT1, SPATA31A1, FAM74A6, FOXD4L6, FOXD4L5, SCARNA8, MSMP, FAM27D1, SPATA31A3, SPATA31A5, CBWD7, FAM74A3, CNTNAP3B, LOC728673, ANKRD20A4, LOC730098, FAM166B, TRH-GTG1-6, CDKN2B-AS1, SNORD121A, LINC00583, MIR876, MIR873, TOPORS-AS1, C9orf92, IZUMO3, FAM205C, LOC100132249, FAM27C, FAM95B1, FAM27E2, FAM95C, LOC100289279, MIR1299, PIRC43, MIR3152, LOC100506422, MIR4477A, MIR4477B, MIR4667, MIR4473, MIR4540, MIR4665, MIR4475, MIR4474, MIR4476, RNU6-14P, FAM74A7, PTENP1-AS, SNORD121B, DNAJB5-AS1, LOC101926948, LOC101927827, LOC101928381, LINC01231, RFX3-AS1, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, MIR6851, MIR6852, MIR6853, LOC102724238, LINC01230, LINC01410, LOC103908605, LOC105375972, LOC105376064, LOC105379252, LOC105379450, XLOC_007697, SNORD137
See casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
28.
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, C9orf114, 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,