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Items: 98

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Jul 15, 2004)
no assertion criteria provided
2.
SURF1Cytochrome-c oxidase deficiency, Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Jun 1, 2001)
no assertion criteria provided
3.
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Dec 1, 1998)
no assertion criteria provided
4.
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Dec 1, 1998)
no assertion criteria provided
5.
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Dec 1, 1998)
no assertion criteria provided
6.
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Dec 1, 1998)
no assertion criteria provided
7.
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Dec 1, 1998)
no assertion criteria provided
8.
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Feb 1, 2000)
no assertion criteria provided
9.
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Dec 1, 1998)
no assertion criteria provided
10.
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Dec 1, 1998)
no assertion criteria provided
11.
GRCh37:
Chr9:136218782
GRCh38:
Chr9:133351927
SURF1not specifiedLikely benign
(Apr 30, 2012)
criteria provided, single submitter
12.
GRCh37:
Chr9:136218788
GRCh38:
Chr9:133351933
SURF1not specifiedLikely benign
(Jul 5, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr9:136218825-136218826
GRCh38:
Chr9:133351970-133351971
SURF1Leigh syndrome, Congenital myasthenic syndrome, acetazolamide-responsive, not provided,
Charcot-Marie-Tooth disease, type 4k, Leigh syndrome due to COX IV deficiency
Pathogenic
(Jan 27, 2017)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr9:136218850
GRCh38:
Chr9:133351995
SURF1not specifiedLikely benign
(Jul 9, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr9:136218903
GRCh38:
Chr9:133352048
SURF1not specifiedLikely benign
(Sep 6, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr9:136218913
GRCh38:
Chr9:133352058
SURF1not specifiedLikely benign
(Jul 19, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr9:136218927-136218941
GRCh38:
Chr9:133352072-133352086
SURF1not providedLikely pathogenic
(Jan 27, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr9:136218929
GRCh38:
Chr9:133352074
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Dec 1, 1999)
no assertion criteria provided
19.
GRCh37:
Chr9:136218931-136218936
GRCh38:
Chr9:133352076-133352081
SURF1not providedLikely pathogenic
(Jun 10, 2014)
criteria provided, single submitter
20.
GRCh37:
Chr9:136218949-136218950
GRCh38:
Chr9:133352094-133352095
SURF1Charcot-Marie-Tooth disease, type 4kPathogenic
(Oct 22, 2013)
no assertion criteria provided
21.
GRCh37:
Chr9:136218956-136218957
GRCh38:
Chr9:133352101-133352102
SURF1not providedPathogenic
(Jun 19, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr9:136218976-136218978
GRCh38:
Chr9:133352121-133352123
SURF1not providedLikely pathogenic
(May 24, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr9:136218990-136218991
GRCh38:
Chr9:133352135-133352136
SURF1not providedLikely pathogenic
(Dec 5, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr9:136218994-136218995
GRCh38:
Chr9:133352139-133352140
SURF1Leigh syndromeLikely pathogenic
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr9:136219295
GRCh38:
Chr9:133352440
SURF1not specified, not providedBenign
(Dec 30, 2016)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr9:136219296
GRCh38:
Chr9:133352441
SURF1not providedLikely pathogenic
(Nov 25, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr9:136219301
GRCh38:
Chr9:133352446
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Dec 1, 1999)
no assertion criteria provided
28.
GRCh37:
Chr9:136219307
GRCh38:
Chr9:133352452
SURF1not specifiedLikely benign
(May 8, 2013)
criteria provided, single submitter
29.
GRCh37:
Chr9:136219364
GRCh38:
Chr9:133352509
SURF1not providedPathogenic
(Jun 21, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr9:136219371
GRCh38:
Chr9:133352516
SURF1not providedPathogenic
(May 6, 2015)
criteria provided, single submitter
31.
GRCh37:
Chr9:136219373
GRCh38:
Chr9:133352518
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Sep 21, 2011)
no assertion criteria provided
32.
GRCh37:
Chr9:136219395
GRCh38:
Chr9:133352540
SURF1not specifiedLikely benign
(Sep 2, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr9:136219409
GRCh38:
Chr9:133352554
SURF1Leigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr9:136219448
GRCh38:
Chr9:133352593
SURF1Leigh syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr9:136219464
GRCh38:
Chr9:133352609
SURF1not providedPathogenic
(Apr 21, 2015)
criteria provided, single submitter
36.
GRCh37:
Chr9:136219551
GRCh38:
Chr9:133352696
SURF1Leigh syndromePathogenic
(Aug 18, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr9:136219562-136219563
GRCh38:
Chr9:133352707-133352708
SURF1not providedPathogenic
(Feb 2, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr9:136219563
GRCh38:
Chr9:133352708
SURF1not provided, Charcot-Marie-Tooth disease, type 4kPathogenic
(Jan 6, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr9:136219564
GRCh38:
Chr9:133352709
SURF1Leigh syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr9:136219574
GRCh38:
Chr9:133352719
SURF1not providedLikely pathogenic
(Oct 1, 2013)
criteria provided, single submitter
41.
GRCh37:
Chr9:136219594
GRCh38:
Chr9:133352739
SURF1Leigh syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr9:136219602-136219603
GRCh38:
Chr9:133352747-133352748
SURF1not providedPathogenic
(Jun 9, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr9:136219602-136219605
GRCh38:
Chr9:133352747-133352750
SURF1not providedPathogenic
(Oct 10, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr9:136219629
GRCh38:
Chr9:133352774
SURF1not specifiedLikely benign
(Nov 3, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr9:136220672
GRCh38:
Chr9:133353817
SURF1not specifiedLikely benign
(Nov 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr9:136220710
GRCh38:
Chr9:133353855
SURF1not providedLikely pathogenic
(Oct 9, 2012)
criteria provided, single submitter
47.
GRCh37:
Chr9:136220737-136220739
GRCh38:
Chr9:133353882-133353884
SURF1not providedLikely pathogenic
(Jan 14, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr9:136220748
GRCh38:
Chr9:133353893
SURF1Congenital myasthenic syndrome, acetazolamide-responsivePathogenic
(Feb 1, 2000)
no assertion criteria provided
49.
GRCh37:
Chr9:136220753
GRCh38:
Chr9:133353898
SURF1Leigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr9:136220767
GRCh38:
Chr9:133353912
SURF1Leigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr9:136220769
GRCh38:
Chr9:133353914
SURF1not providedUncertain significance
(Jan 11, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr9:136220806
GRCh38:
Chr9:133353951
SURF1not providedPathogenic
(Mar 20, 2014)
criteria provided, single submitter
53.
GRCh37:
Chr9:136221515
GRCh38:
Chr9:133354660
SURF1not specifiedUncertain significance
(Apr 16, 2014)
criteria provided, single submitter
54.
GRCh37:
Chr9:136221516-136221525
GRCh38:
Chr9:133354661-133354670
SURF1Leigh syndrome, not providedPathogenic
(Jan 26, 2017)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr9:136221557
GRCh38:
Chr9:133354702
SURF1Leigh syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr9:136221568
GRCh38:
Chr9:133354713
SURF1not providedLikely pathogenic
(Jan 26, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr9:136221603
GRCh38:
Chr9:133354748
SURF1not specifiedLikely benign
(Sep 2, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr9:136221670
GRCh38:
Chr9:133354815
SURF1not specifiedBenign
(Sep 18, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr9:136221678
GRCh38:
Chr9:133354823
SURF1not providedPathogenic
(Apr 16, 2015)
criteria provided, single submitter
60.
GRCh37:
Chr9:136221708
GRCh38:
Chr9:133354853
SURF1Leigh syndrome, not specifiedUncertain significance
(May 5, 2017)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr9:136221752
GRCh38:
Chr9:133354897
SURF1not specified, not providedBenign
(Dec 30, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr9:136221814
GRCh38:
Chr9:133354959
SURF1Charcot-Marie-Tooth disease, type 4kPathogenic
(Oct 22, 2013)
no assertion criteria provided
63.
GRCh37:
Chr9:136221831
GRCh38:
Chr9:133354976
SURF1not specifiedLikely benign
(Dec 12, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr9:136223123
GRCh38:
Chr9:133356268
SURF1Leigh syndromeLikely pathogenic
(Jun 12, 2012)
criteria provided, single submitter
65.
GRCh37:
Chr9:136223222-136223242
GRCh38:
Chr9:133356346-133356366
SURF1not specifiedBenign
(Jul 23, 2013)
criteria provided, single submitter
66.
GRCh37:
Chr9:136223254-136223267
GRCh38:
Chr9:133356378-133356391
SURF1not specifiedLikely benign
(Feb 1, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr9:136223266
GRCh38:
Chr9:133356390
SURF1Leigh syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr9:136223267
GRCh38:
Chr9:133356391
SURF1Leigh syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr9:136223290
GRCh38:
Chr9:133356414
SURF1not specifiedLikely benign
(Aug 3, 2012)
criteria provided, single submitter
70.
GRCh37:
Chr9:136223313
GRCh38:
Chr9:133356437
SURF1not specifiedLikely benign
(Aug 14, 2013)
criteria provided, single submitter
71.
GRCh37:
Chr9:136223317-136223340
GRCh38:
Chr9:133356441-133356464
SURF1Leigh syndrome, not providedPathogenic/Likely pathogenic
(Dec 28, 2015)
criteria provided, single submitter
72.
GRCh37:
Chr9:136223354
GRCh38:
Chr9:133356478
SURF1not specifiedLikely benign
(Feb 1, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr9:136223366
GRCh38:
Chr9:133356490
SURF1Leigh syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
74.
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
75.
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
76.
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
77.
GRCh37:
Chr9:128652785-141044751
ABCA2, ABL1, ABO, AK1, ASS1, C8G, CACNA1B, KYAT1, ENTPD2, CDK9, CEL, COL5A1, CRAT, DBH, SARDH, DNM1, TOR1A, ENDOG, ENG, FCN1, FCN2, FPGS, FUT7, GLE1, GOLGA2, RAPGEF1, GRIN1, LCN1, LCN2, LMX1B, NOTCH1, ODF2, PAEP, PBX3, PTPA, PTGDS, RALGDS, RPL7A, RPL12, RXRA, SET, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, TRAF2, TSC1, TTF1, VAV2, ZNF79, BRD3, NUP214, LHX3, GFI1B, SSNA1, EDF1, DPM2, FUBP3, CLIC3, GTF3C5, GTF3C4, MED27, PTGES, RALGPS1, ADAMTSL2, PPP1R26, SEC16A, SH2D3C, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, AGPAT2, POMT1, SDCCAG3, NOXA1, USP20, SLC27A4, WDR5, SPACA9, ADAMTS13, CACFD1, SLC2A6, MAN1B1, DOLK, FNBP1, SETX, ZBTB43, PMPCA, EXOSC2, NCS1, ANGPTL2, NUP188, CIZ1, NELFB, NSMF, GPSM1, GBGT1, TRUB2, ST6GALNAC4, NDOR1, TOR1B, TOR2A, NTMT1, PHPT1, ANAPC2, PKN3, DPP7, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, MRPS2, COQ4, CERCAM, EGFL7, PRRX2, SPOUT1, C9orf78, FBXW5, TBC1D13, TOR4A, EXD3, RABL6, LRRC8A, INPP5E, NPDC1, BARHL1, SH3GLB2, REXO4, DOLPP1, KCNT1, GPR107, PRDM12, CARD9, DDX31, FAM129B, MRPL41, C9orf16, EHMT1, PTGES2, URM1, AIF1L, UCK1, GARNL3, NTNG2, PRRC2B, PLPP7, ZDHHC12, MIGA2, FIBCD1, CCDC183, SNHG7, TMEM141, MVB12B, WDR34, SAPCD2, TMEM250, LRSAM1, UAP1L1, ARRDC1, DPH7, TMEM203, SLC25A25, ZMYND19, NACC2, C9orf116, LCN8, FAM69B, PTRH1, PIP5KL1, ASB6, SLC34A3, CAMSAP1, C9orf62, C9orf163, MAMDC4, LCN6, AK8, TTC16, STKLD1, QSOX2, NAIF1, PHYHD1, HMCN2, CFAP157, LCN12, PAXX, TPRN, FAM78A, QRFP, GLT6D1, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, IER5L, CFAP77, LCN15, C9orf172, LRRC26, MYMK, LCN9, FAM102A, LCNL1, C9orf139, FAM166A, SOHLH1, ZBTB34, MIR126, MIR199B, C9orf106, LCN10, STPG3, NRARP, NRON, FAM163B, RNF224, LOC651337, RNF208, DNLZ, RNU6ATAC, MIR2861, TMEM210
See casesPathogenicno assertion criteria provided
78.
GRCh37:
Chr9:124642754-141146461
ABCA2, ABL1, ABO, AK1, ASS1, C8G, CACNA1B, KYAT1, ENTPD2, CDK9, CEL, COL5A1, CRAT, DBH, SARDH, DNM1, TOR1A, ENDOG, ENG, FCN1, FCN2, FPGS, NR5A1, FUT7, NR6A1, GLE1, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, HSPA5, LCN1, LCN2, LMX1B, NDUFA8, NOTCH1, ODF2, PAEP, PDCL, PBX3, PTPA, PPP6C, PSMB7, PTGDS, PTGS1, RALGDS, RPL7A, RPL12, RXRA, SET, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, TRAF2, TSC1, TTF1, VAV2, ZNF79, BRD3, NUP214, LHX3, GFI1B, SSNA1, EDF1, DPM2, FUBP3, CLIC3, GTF3C5, GTF3C4, LHX2, MED27, PTGES, RALGPS1, ADAMTSL2, PPP1R26, SEC16A, SH2D3C, RABEPK, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, AGPAT2, POMT1, ZBTB6, NEK6, SDCCAG3, NOXA1, USP20, SLC27A4, WDR5, SPACA9, ADAMTS13, CACFD1, SLC2A6, RPL35, MAN1B1, DOLK, FNBP1, SETX, ZBTB43, PMPCA, EXOSC2, NCS1, ANGPTL2, NUP188, RABGAP1, CIZ1, NELFB, NSMF, GPSM1, GAPVD1, OR1J4, GBGT1, LHX6, OR1L3, OR1L1, OR1J2, TRUB2, ST6GALNAC4, NDOR1, TOR1B, TOR2A, NTMT1, PHPT1, ANAPC2, PKN3, DPP7, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, MRPS2, COQ4, CERCAM, EGFL7, PRRX2, SPOUT1, C9orf78, FBXW5, RC3H2, TBC1D13, TOR4A, EXD3, STRBP, RABL6, LRRC8A, INPP5E, NPDC1, BARHL1, SH3GLB2, REXO4, DOLPP1, KCNT1, ZBTB26, DENND1A, GPR107, PRDM12, CARD9, DDX31, FAM129B, MRPL41, C9orf16, MAPKAP1, EHMT1, PTGES2, URM1, ARPC5L, AIF1L, UCK1, GARNL3, NTNG2, PRRC2B, PLPP7, ZDHHC12, MIGA2, FIBCD1, CCDC183, SNHG7, TMEM141, MVB12B, WDR34, SAPCD2, TMEM250, LRSAM1, UAP1L1, MRRF, RBM18, ARRDC1, DPH7, TMEM203, SLC25A25, ZMYND19, NACC2, C9orf116, LCN8, FAM69B, PTRH1, PIP5KL1, OR1L8, OR1N2, OR1N1, ASB6, SLC34A3, CAMSAP1, C9orf62, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, TTC16, STKLD1, OLFML2A, QSOX2, NAIF1, PHYHD1, MORN5, OR1L4, HMCN2, CRB2, SCAI, CFAP157, LCN12, PAXX, TPRN, FAM78A, ADGRD2, QRFP, OR1J1, OR1B1, GLT6D1, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, IER5L, CFAP77, LCN15, C9orf172, LRRC26, MYMK, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, TTLL11-IT1, WDR38, LCNL1, C9orf139, FAM166A, SOHLH1, ZBTB34, MIR126, MIR181A2, MIR181B2, MIR199B, C9orf106, LCN10, STPG3, NRARP, NRON, FAM163B, RNF224, LOC651337, RNF208, DNLZ, FAM157B, RNU6ATAC, MIR181A2HG, MIR2861, TMEM210
See casesPathogenicno assertion criteria provided
79.
GRCh37:
Chr9:135797171-136245956
See casesUncertain significanceno assertion criteria provided
80.
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
81.
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, 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, DKFZP434A062, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, SNORA65, SNORD62A, SNORD36C, SNORD36B, SNORD36A, SNORD24, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, LOC51145, CERCAM, EGFL7, CDKN2A-AS1, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, PLPPR1, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, IFNK, SH3GLB2, GSN-AS1, REXO4, DOLPP1, MYORG, 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, MFSD14C, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, GLIS3-AS1, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, ARRDC1-AS1, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, TMEM250, LRSAM1, IL33, DMAC1, 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, SPAAR, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, LOC158434, LOC158435, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, AAED1, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, CUTALP, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, BRD3OS, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LOC286238, LCN12, PAXX, TPRN, LOC286297, TUSC1, FAM225A, FAM78A, LURAP1L, LOC286359, OR13C9, OR13D1, LOC286367, MIR4290HG, FOXD4L3, IFNE, ZDHHC21, ACER2, LOC340512, LINC01501, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, GLIDR, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, PTGES2-AS1, IER5L, CFAP77, LCN15, AJM1, LRRC26, MYMK, 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, LOC497256, DNAJC25, DNAJC25-GNG10, MIR31HG, LOC554249, PGM5-AS1, MIR491, LOC613206, MIR455, NRON, PRRT1B, FAM163B, EHMT1-IT1, RNF224, LINC01189, CBWD6, SPATA31C2, HRCT1, SPATA31A1, LOC651337, 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, SMIM27, LOC100129316, LINC00484, C9orf92, IZUMO3, STPG3-AS1, FAM205C, LOC100130548, LINC01502, CCDC183-AS1, FAM27E3, LOC100132077, LOC100132249, FAM27C, FAM95B1, LOC100133077, FAM27B, C9orf147, RNU6ATAC, LINC00092, TRR-TCG6-1, TRR-TCT3-1, LOC100272217, VPS13A-AS1, SLC25A25-AS1, FAM27E2, FAM95C, LOC100289279, MAN1B1-AS1, MIR1299, MIR1302-8, MIR2278, PIRC43, MIR181A2HG, MIR3074, MIR4292, MIR3152, MIR3154, MIR2861, MIR4291, MIR3153, MIR4290, MIR4289, CCDC180, MIR3621, MIR3910-1, MIR3689A, MIR3911, MIR3927, MIR3910-2, MIR3689B, MIR3651, TEX48, LOC100505588, TMEM210, LOC100506100, LINC01503, LINC00963, LOC100506422, PPP1R26-AS1, GAS1RR, DAPK1-IT1, MAMDC2-AS1, SMC5-AS1, LOC100507346, LINC01504, MSANTD3-TMEFF1, ERVFRD-3, MIR4668, MIR3689D1, MIR4477A, MIR4477B, MIR3689F, MIR4667, MIR4473, MIR4669, MIR4673, MIR3960, MIR4540, MIR4665, MIR4475, MIR4674, MIR4478, MIR3689C, MIR219B, MIR3689D2, MIR4670, MIR4672, MIR4474, MIR4476, MIR3689E, MIR4479, MIR548AW, MIR548AU, RNU6-14P, BANCR, NAMA, FAM74A7, LINC01505, PTENP1-AS, SNORD121B, LOC101448202, DNAJB5-AS1, LOC101926948, LINC01506, LOC101927069, LINC01474, LOC101927358, C9orf41-AS1, GNA14-AS1, LOC101927450, LINC01507, LOC101927502, LOC101927575, LOC101927623, LOC101927827, LOC101927847, LINC01508, LOC101927954, BARX1-AS1, PCAT7, LOC101928119, PTCSC2, LOC101928381, LOC101928438, TMEM246-AS1, NALT1, LINC01492, LOC101928523, LOC101928525, SMC2-AS1, HSPC324, PRR31, LINC01509, LOC101928748, LOC101928775, LOC101928786, LOC101928797, LOC101929116, LINC01231, RFX3-AS1, LOC101929331, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, PRRX2-AS1, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, LOC101929748, MIR6722, MIR6851, MIR6852, MIR6854, MIR6856, MIR6877, MIR7150, MIR7702, MIR8081, MIR6853, MIR7114, MIR6081, MIR6855, LOC102723566, LOC102723709, LOC102723971, LOC102724156, LOC102724238, LINC01230, LINC01410, RORB-AS1, LOC103908605, LOC105375972, LINC01627, LOC105376064, LOC105376114, HSD17B3-AS1, LOC105376194, TEX53, TTLL11-IT1, LOC105376271, LOC105376306, LINC02247, LOC105376331, LOC105379252, LOC105379450, LOC105379807, XLOC_007697, LINC01613, SNORD137, SNORD141A, LOC107984035, FAM27E4, LOC107987013
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts
82.
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, 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, DKFZP434A062, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, SNORA65, SNORD62A, SNORD36C, SNORD36B, SNORD36A, SNORD24, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, LOC51145, CERCAM, EGFL7, CDKN2A-AS1, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, PLPPR1, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, IFNK, SH3GLB2, GSN-AS1, REXO4, DOLPP1, MYORG, 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, MFSD14C, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, GLIS3-AS1, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, ARRDC1-AS1, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, TMEM250, LRSAM1, IL33, DMAC1, 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,