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Items: 16

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:35657801
GRCh38:
Chr9:35657804
RMRPnot providedPathogenic
(Mar 22, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr9:35657838
GRCh38:
Chr9:35657841
RMRPnot specifiedGMAF:0.15160(A)
GO-ESP:0.09905(A)
Benign
(Sep 11, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr9:35657859
GRCh38:
Chr9:35657862
RMRPnot specifiedGMAF:0.15160(G)
GO-ESP:0.09881(G)
Benign
(Feb 14, 2013)
criteria provided, single submitter
4.
GRCh37:
Chr9:35657869
GRCh38:
Chr9:35657872
RMRPnot providedPathogenic
(Mar 26, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr9:35657870
GRCh38:
Chr9:35657873
RMRPnot providedLikely pathogenic
(Jan 29, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr9:35657945
GRCh38:
Chr9:35657948
RMRPMetaphyseal chondrodysplasia, McKusick type, Metaphyseal dysplasia without hypotrichosis, not provided
GO-ESP:0.00047(C)Pathogenic
(Jul 1, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr9:35658020
GRCh38:
Chr9:35658023
RMRPnot specifiedLikely benign
(Jul 24, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr9:35658022
GRCh38:
Chr9:35658025
RMRPnot specifiedLikely benign
(Jun 24, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr9:35658028
GRCh38:
Chr9:35658031-35658037
RMRPnot providedPathogenic
(Jul 1, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr9:35658038
GRCh38:
Chr9:35658041
RMRPnot specifiedBenign
(Jul 11, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr9:35658062
GRCh38:
Chr9:35658065
RMRPnot specifiedGMAF:0.48680(T)
GO-ESP:0.47592(T)
Benign
(Oct 17, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr9:35658071
GRCh38:
Chr9:35658074
RMRPnot specifiedLikely benign
(Mar 22, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr9:213161-39092820
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr9:163131-38763958
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr9:213161-47212321
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, SPAG8, FBXO10, RANBP6, DNAI1, SIT1, SPINK4, CD274, STOML2, AK3, EXOSC3, UBAP1, CHMP5, TMEM8B, EQTN, BNC2, HAUS6, APTX, CNTLN, FOCAD, UBE2R2, SPATA6L, SMU1, CDC37L1, DENND4C, UBAP2, PLGRKT, KLHL9, OR2S2, KIAA1161, RIC1, GBA2, DMRT3, DMRTA1, POLR1E, LRRC19, NOL6, DCAF10, MOB3B, CAAP1, CNTNAP3, ERMP1, IFT74, FAM214B, PDCD1LG2, DOCK8, ZCCHC7, HINT2, C9orf24, PIGO, ARHGEF39, TPD52L3, IL33, TMEM261, SLC25A51, ADAMTSL1, UHRF2, TAF1L, ARID3C, RPP25L, C9orf131, RNF38, GLIPR2, C9orf66, LINGO2, TTC39B, TRMT10B, SAXO1, FREM1, KIAA2026, KCNV2, GLIS3, C9orf72, CCDC171, FAM219A, CCDC107, ANKRD18A, FAM205A, TUSC1, LURAP1L, IFNE, ZDHHC21, ACER2, KIF24, IGFBPL1, ENHO, SPATA31A6, FAM221B, OR13J1, HACD4, TMEM215, TOMM5, PLPP6, MIR101-2, MIR31, ANKRD20A3, ANKRD20A2, ANKRD18B, HRCT1, SPATA31A1, MSMP, FAM27D1, SPATA31A3, SPATA31A5, CBWD7, CNTNAP3B, FAM166B, CDKN2B-AS1, IZUMO3
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
16.
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
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