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Items: 1 to 100 of 128

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:35091479
GRCh38:
Chr9:35091482
PIGOnot specifiedUncertain significance
(Jun 16, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr9:35091687
GRCh38:
Chr9:35091690
PIGOnot specifiedUncertain significance
(Jun 14, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr9:35095079
GRCh38:
Chr9:35095082
PIGOnot specifiedUncertain significance
(May 16, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr9:35092762
GRCh38:
Chr9:35092765
PIGOnot specifiedUncertain significance
(May 16, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr9:35093133
GRCh38:
Chr9:35093136
PIGOnot specifiedUncertain significance
(Dec 12, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr9:35095405
GRCh38:
Chr9:35095408
PIGOnot specifiedUncertain significance
(May 12, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr9:35090224
GRCh38:
Chr9:35090227
PIGOnot specifiedUncertain significance
(Feb 23, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr9:35090455
GRCh38:
Chr9:35090458
PIGOnot specifiedLikely benign
(Nov 30, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr9:35090061
GRCh38:
Chr9:35090064
PIGOnot providedLikely pathogenic
(Oct 6, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr9:35095199
GRCh38:
Chr9:35095202
PIGOnot providedLikely pathogenic
(Jun 10, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr9:35089078-35089079
GRCh38:
Chr9:35089081-35089082
PIGOnot specifiedLikely benign
(Feb 18, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr9:35096133-35096136
GRCh38:
Chr9:35096136-35096139
PIGOnot specifiedLikely benign
(Jan 18, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr9:35093025
GRCh38:
Chr9:35093028
PIGOnot providedLikely pathogenic
(Jun 15, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr9:35094278
GRCh38:
Chr9:35094281
PIGOnot providedLikely pathogenic
(Jun 15, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr9:203861-141020389
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, ELP1, 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, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, SH3GLB2, REXO4, DOLPP1, MYORG, 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, TMEM250, LRSAM1, IL33, DMAC1, 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, PAXX, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, C9orf172, LRRC26, MYMK, 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, LOC651337, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, ANKRD20A4, FAM166B, CDKN2B-AS1, IZUMO3, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, C9orf41-AS1
See casesPathogenicno assertion criteria provided
16.
GRCh37:
Chr9:203861-67983174
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, 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, ANKRD20A1, HINT2, C9orf24, PIGO, ARHGEF39, TPD52L3, IL33, DMAC1, 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 casesPathogenicno assertion criteria provided
17.
GRCh37:
Chr9:203861-69002883
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, 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, ANKRD20A1, HINT2, C9orf24, PIGO, ARHGEF39, TPD52L3, IL33, DMAC1, SLC25A51, ADAMTSL1, UHRF2, TAF1L, ARID3C, RPP25L, C9orf131, RNF38, GLIPR2, C9orf66, LINGO2, TTC39B, TRMT10B, SAXO1, FREM1, KIAA2026, KCNV2, GLIS3, C9orf72, CCDC171, FAM219A, CCDC107, LINC00537, 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 casesPathogenicno assertion criteria provided
18.
GRCh37:
Chr9:203864-141020389
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, ELP1, 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, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, SH3GLB2, REXO4, DOLPP1, MYORG, 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, TMEM250, LRSAM1, IL33, DMAC1, 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, PAXX, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, C9orf172, LRRC26, MYMK, 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, LOC651337, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, ANKRD20A4, FAM166B, CDKN2B-AS1, IZUMO3, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, C9orf41-AS1
See casesPathogenicno assertion criteria provided
19.
GRCh37:
Chr9:203861-68188391
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, 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, ANKRD20A1, HINT2, C9orf24, PIGO, ARHGEF39, TPD52L3, IL33, DMAC1, 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 casesPathogenicno assertion criteria provided
20.
GRCh37:
Chr9:62525-141006407
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, FOXD4, 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, ELP1, 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, MYORG, 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, TMEM250, LRSAM1, IL33, DMAC1, 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, PAXX, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, C9orf172, LRRC26, MYMK, 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, LOC651337, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, ANKRD20A4, FAM166B, CDKN2B-AS1, IZUMO3, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, C9orf41-AS1
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
21.
GRCh37:
Chr9:32396-39140211
See casesPathogenicno assertion criteria provided
22.
GRCh37:
Chr9:13997-70919878
ACO1, PLIN2, ALDH1B1, NUDT2, AQP3, AQP7, BAG1, CA9, CCIN, CD72, CDKN2A, CDKN2B, CLTA, CNTFR, DMRT1, ELAVL2, FANCG, FOXD4, 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, UBAP1, CHMP5, TMEM8B, EQTN, BNC2, HAUS6, APTX, CNTLN, FOCAD, UBE2R2, SPATA6L, SMU1, CDC37L1, DENND4C, UBAP2, PLGRKT, CBWD1, KLHL9, OR2S2, KIAA1161, RIC1, GBA2, DMRT3, DMRTA1, POLR1E, LRRC19, NOL6, DCAF10, MOB3B, CAAP1, CNTNAP3, ERMP1, IFT74, FAM214B, PDCD1LG2, DOCK8, ZCCHC7, ANKRD20A1, HINT2, C9orf24, PIGO, ARHGEF39, TPD52L3, IL33, DMAC1, SLC25A51, ADAMTSL1, UHRF2, TAF1L, ARID3C, RPP25L, C9orf131, RNF38, GLIPR2, C9orf66, LINGO2, TTC39B, TRMT10B, SAXO1, FREM1, KIAA2026, KCNV2, GLIS3, C9orf72, CCDC171, FAM219A, CCDC107, LINC00537, CBWD5, ANKRD18A, FAM205A, TUSC1, LURAP1L, FOXD4L3, IFNE, ZDHHC21, ACER2, KIF24, IGFBPL1, FOXD4L4, ENHO, SPATA31A6, FAM221B, OR13J1, HACD4, TMEM215, TOMM5, PLPP6, MIR101-2, MIR31, ANKRD20A3, ANKRD20A2, ANKRD18B, CBWD3, CBWD6, HRCT1, SPATA31A1, FOXD4L6, FOXD4L5, MSMP, FAM27D1, SPATA31A3, SPATA31A5, CBWD7, CNTNAP3B, ANKRD20A4, FAM166B, CDKN2B-AS1, IZUMO3, WASHC1
See casesPathogenicno assertion criteria provided
23.
GRCh37:
Chr9:35095094
GRCh38:
Chr9:35095097
PIGOnot specifiedUncertain significance
(Jan 17, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr9:35091719
GRCh38:
Chr9:35091722
PIGOnot specifiedUncertain significance
(Jan 11, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr9:35092108
GRCh38:
Chr9:35092111
PIGOnot specifiedLikely benign
(Jan 6, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr9:35091257
GRCh38:
Chr9:35091260
PIGOnot specifiedUncertain significance
(Dec 23, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr9:35090453
GRCh38:
Chr9:35090456
PIGOnot specifiedLikely benign
(Dec 5, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr9:35090243
GRCh38:
Chr9:35090246
PIGOnot specifiedLikely benign
(Dec 1, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr9:35096176
GRCh38:
Chr9:35096179
PIGOnot specifiedLikely benign
(Oct 24, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr9:35095461
GRCh38:
Chr9:35095464
PIGOnot specifiedLikely benign
(Sep 21, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr9:35090456
GRCh38:
Chr9:35090459
PIGOnot specifiedLikely benign
(Mar 24, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr9:35090554
GRCh38:
Chr9:35090557
PIGOnot specifiedLikely benign
(Aug 29, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr9:35091597
GRCh38:
Chr9:35091600
PIGOnot specifiedUncertain significance
(Jul 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr9:35091364
GRCh38:
Chr9:35091367
PIGOnot specifiedLikely benign
(Jul 15, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr9:35091568
GRCh38:
Chr9:35091571
PIGOnot specifiedLikely benign
(Jun 9, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr9:35092492
GRCh38:
Chr9:35092495
PIGOnot specifiedLikely benign
(May 27, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr9:35093478
GRCh38:
Chr9:35093481
PIGOnot specifiedLikely benign
(May 24, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr9:35093177
GRCh38:
Chr9:35093180
PIGOnot specifiedLikely benign
(May 9, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr9:35089233
GRCh38:
Chr9:35089236
PIGOnot specifiedLikely benign
(May 5, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr9:35092222
GRCh38:
Chr9:35092225
PIGOnot specifiedLikely benign
(Apr 12, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr9:35093457
GRCh38:
Chr9:35093460
PIGOnot specifiedLikely benign
(Mar 31, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr9:35090638
GRCh38:
Chr9:35090641
PIGOnot specifiedLikely benign
(Mar 29, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr9:35091862
GRCh38:
Chr9:35091865
PIGOnot specifiedLikely benign
(Mar 24, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr9:35094206
GRCh38:
Chr9:35094209
PIGOnot specifiedLikely benign
(Mar 8, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr9:35094029
GRCh38:
Chr9:35094032
PIGOnot specifiedLikely benign
(Apr 3, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr9:35095263
GRCh38:
Chr9:35095266
PIGOnot specifiedLikely benign
(Mar 3, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr9:35093963
GRCh38:
Chr9:35093966
PIGOnot specifiedLikely benign
(Jan 23, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr9:35094363
GRCh38:
Chr9:35094366
PIGOnot specifiedLikely benign
(Feb 12, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr9:35091859
GRCh38:
Chr9:35091862
PIGOnot specifiedLikely benign
(May 1, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr9:35091586
GRCh38:
Chr9:35091589
PIGOnot specifiedLikely benign
(Jan 26, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr9:35091760
GRCh38:
Chr9:35091763
PIGOnot specifiedLikely benign
(Feb 4, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr9:35091452
GRCh38:
Chr9:35091455
PIGOnot specifiedBenign
(Jan 28, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr9:35093406
GRCh38:
Chr9:35093409
PIGOnot specifiedLikely benign
(Feb 21, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr9:35091322
GRCh38:
Chr9:35091325
PIGOnot specifiedLikely benign
(Jan 28, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr9:35092411
GRCh38:
Chr9:35092414
PIGOnot specifiedBenign
(Jul 19, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr9:35089196
GRCh38:
Chr9:35089199
PIGOnot specifiedUncertain significance
(May 4, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr9:35090595
GRCh38:
Chr9:35090598
PIGOnot providedLikely pathogenic
(Dec 16, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr9:35092532
GRCh38:
Chr9:35092535
PIGOnot providedLikely pathogenic
(Dec 16, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr9:35095151
GRCh38:
Chr9:35095154
PIGOnot specifiedUncertain significance
(Dec 6, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr9:35092752
GRCh38:
Chr9:35092755
PIGOnot specifiedUncertain significance
(Dec 6, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr9:35096363
GRCh38:
Chr9:35096366
PIGOHyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr9:35096244
GRCh38:
Chr9:35096247
PIGOHyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr9:35095095
GRCh38:
Chr9:35095098
PIGOHyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr9:35094242
GRCh38:
Chr9:35094245
PIGOHyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr9:35093963
GRCh38:
Chr9:35093966
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeConflicting interpretations of pathogenicity
(Aug 16, 2016)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr9:35092607
GRCh38:
Chr9:35092610
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr9:35091853
GRCh38:
Chr9:35091856
PIGOHyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr9:35091819
GRCh38:
Chr9:35091822
PIGOHyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr9:35091718
GRCh38:
Chr9:35091721
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeConflicting interpretations of pathogenicity
(Oct 6, 2016)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr9:35090510
GRCh38:
Chr9:35090513
PIGOHyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr9:35089459
GRCh38:
Chr9:35089462
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr9:35089399
GRCh38:
Chr9:35089402
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jul 25, 2016)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr9:35089182
GRCh38:
Chr9:35089185
PIGOHyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr9:35089048
GRCh38:
Chr9:35089051
PIGOHyperphosphatasia with Intellectual Disability SyndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr9:35089028
GRCh38:
Chr9:35089031
PIGOHyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr9:35088822
GRCh38:
Chr9:35088825
PIGOHyperphosphatasia with Intellectual Disability SyndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr9:35088717
GRCh38:
Chr9:35088720
PIGOHyperphosphatasia with Intellectual Disability SyndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr9:35092074
GRCh38:
Chr9:35092077
PIGOHyperphosphatasia with mental retardation syndrome 2Pathogenic
(Feb 22, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr9:35094373
GRCh38:
Chr9:35094376
PIGOnot specifiedBenign
(Jan 9, 2016)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr9:35095102
GRCh38:
Chr9:35095105
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeConflicting interpretations of pathogenicity
(Feb 13, 2017)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr9:35095140
GRCh38:
Chr9:35095143
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeBenign/Likely benign
(Jul 6, 2016)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr9:35089403
GRCh38:
Chr9:35089406
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr9:35091844
GRCh38:
Chr9:35091847
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeConflicting interpretations of pathogenicity
(Feb 22, 2017)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr9:35092480
GRCh38:
Chr9:35092483
PIGOnot specifiedBenign
(Jan 7, 2016)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr9:35092779
GRCh38:
Chr9:35092782
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr9:35093020
GRCh38:
Chr9:35093023
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr9:213161-39092820
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr9:163131-38763958
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
89.
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, MYORG, RIC1, GBA2, DMRT3, DMRTA1, POLR1E, LRRC19, NOL6, DCAF10, MOB3B, CAAP1, CNTNAP3, ERMP1, IFT74, FAM214B, PDCD1LG2, DOCK8, ZCCHC7, HINT2, C9orf24, PIGO, ARHGEF39, TPD52L3, IL33, DMAC1, 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
90.
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, ELP1, 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, MYORG, 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, TMEM250, LRSAM1, IL33, DMAC1, 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, PAXX, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, C9orf172, LRRC26, MYMK, 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, LOC651337, 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
91.
GRCh37:
Chr9:35091686
GRCh38:
Chr9:35091689
PIGOnot specifiedBenign
(Aug 3, 2016)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr9:35091616
GRCh38:
Chr9:35091619
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeConflicting interpretations of pathogenicity
(Jan 17, 2017)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr9:35091880
GRCh38:
Chr9:35091883
PIGOnot specified, Hyperphosphatasia with Intellectual Disability SyndromeBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
94.
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, SPAAR, 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, SMIM27, C9orf92, IZUMO3, FAM205C, FAM95C, MIR3152, LOC100506422, ERVFRD-3, 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, LINC01627, SNORD137
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
95.
GRCh37:
Chr9:204193-141073897
GRCh38:
Chr9:193412-138179445