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Items: 51

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:107045119-113136644
GRCh38:
Chr2:106428663-112379067
See casesUncertain significance
(Jan 9, 2013)
no assertion criteria providedVCV000152239
2.
GRCh37:
Chr2:111335143-113089106
GRCh38:
Chr2:110577566-112331529
See casesUncertain significance
(Sep 27, 2013)
no assertion criteria providedVCV000152806
3.
GRCh37:
Chr2:111368832-113065779
GRCh38:
Chr2:110611255-112308202
See casesUncertain significance
(Apr 30, 2010)
no assertion criteria providedVCV000144476
4.
GRCh37:
Chr2:111388619-113111856
GRCh38:
Chr2:110631042-112354279
See casesUncertain significance
(Jul 18, 2014)
no assertion criteria providedVCV000154032
5.
GRCh37:
Chr2:111392197-113102594
GRCh38:
Chr2:110634620-112345017
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000059323
6.
GRCh37:
Chr2:111395819-113001628
GRCh38:
Chr2:110638242-112244051
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057565
7.
GRCh37:
Chr2:111395819-113075478
GRCh38:
Chr2:110638242-112317901
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057564
8.
GRCh37:
Chr2:111406838-113102594
GRCh38:
Chr2:110649261-112345017
not providedLikely pathogenic
(Oct 22, 2015)
criteria provided, single submitterVCV000223093
9.
GRCh37:
Chr2:111406838-113089106
GRCh38:
Chr2:110649261-112331529
See casesconflicting data from submitters
(Apr 4, 2013)
no assertion criteria providedVCV000148494
10.
GRCh37:
Chr2:111406838-113136644
GRCh38:
Chr2:110649261-112379067
See casesLikely benign
(Oct 24, 2012)
no assertion criteria providedVCV000148389
11.
GRCh37:
Chr2:111441930-113065920
GRCh38:
Chr2:110684353-112308343
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000059324
12.
GRCh37:
Chr2:111442130-113065779
GRCh38:
Chr2:110684553-112308202
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000161046
13.
GRCh37:
Chr2:111442130-113065779
GRCh38:
Chr2:110684553-112308202
See casesUncertain significance
(Aug 12, 2011)
criteria provided, multiple submitters, no conflictsVCV000160844
14.
GRCh37:
Chr2:111442130-113102535
GRCh38:
Chr2:110684553-112344958
See casesLikely pathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151397
15.
GRCh37:
Chr2:111442130-113065779
GRCh38:
Chr2:110684553-112308202
See casesUncertain significance
(Sep 16, 2011)
no assertion criteria providedVCV000032080
16.
GRCh37:
Chr2:111442175-113065741
GRCh38:
Chr2:110684598-112308164
See casesUncertain significance
(Aug 30, 2010)
no assertion criteria providedVCV000154416
17.
GRCh37:
Chr2:111881361
GRCh38:
Chr2:111123784
BCL2L11not providedBenign
(Jan 14, 2019)
criteria provided, single submitterVCV000775750
18.
GRCh37:
Chr2:111388619-113137529
BUB1, BCL2L11, MERTK, ACOXL, ANAPC1, ZC3H8, TMEM87B, FBLN7, ZC3H6, RGPD8not providedPathogenic
(Jul 20, 2018)
no assertion criteria providedVCV000688671
19.
GRCh37:
Chr2:111388619-113199850
BUB1, BCL2L11, MERTK, ACOXL, ANAPC1, ZC3H8, TMEM87B, FBLN7, ZC3H6, RGPD8not providedPathogenic
(Sep 13, 2018)
no assertion criteria providedVCV000687786
20.
GRCh37:
Chr2:111382460-113115979
BUB1, BCL2L11, MERTK, ACOXL, ANAPC1, ZC3H8, TMEM87B, FBLN7, ZC3H6not providedPathogenic
(Feb 28, 2018)
no assertion criteria providedVCV000686865
21.
GRCh37:
Chr2:111382460-113137975
BUB1, BCL2L11, MERTK, ACOXL, ANAPC1, ZC3H8, TMEM87B, FBLN7, ZC3H6, RGPD8not providedPathogenic
(Dec 12, 2017)
no assertion criteria providedVCV000686485
22.
GRCh37:
Chr2:111395603-113251000
not providedLikely pathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625831
23.
GRCh37:
Chr2:111395351-113102594
BUB1, BCL2L11, MERTK, ACOXL, ANAPC1, ZC3H8, TMEM87B, FBLN7, ZC3H6not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625548
24.
GRCh37:
Chr2:15672-243101834
AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS1, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPTIN2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDCD1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, ITPRID2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCHF4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCHF7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, CYRIA, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, SLC66A3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, RTP5, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, FAM166C, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, MSH2-OT1, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000616168
25.
GRCh37:
Chr2:14238-243048760
STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, FAM166C, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, MSH2-OT1, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570, AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS1, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DPP4, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPTIN2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDCD1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, ITPRID2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCHF4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCHF7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, CYRIA, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, SLC66A3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, RTP5, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000616166
26.
GRCh37:
Chr2:111392259-113217630
BUB1, BCL2L11, MERTK, ACOXL, ANAPC1, ZC3H8, TMEM87B, FBLN7, ZC3H6, RGPD8not providedUncertain significance
(Jan 3, 2011)
no assertion criteria providedVCV000603930
27.
GRCh37:
Chr2:111382540-113104247
BUB1, BCL2L11, MERTK, ACOXL, ANAPC1, ZC3H8, TMEM87B, FBLN7, ZC3H6not providedUncertain significance
(Dec 20, 2011)
no assertion criteria providedVCV000603929
28.
GRCh37:
Chr2:96353030-114045463
not providedPathogenic
(Mar 19, 2018)
no assertion criteria providedVCV000562679
29.
GRCh37:
Chr2:110980294-113137529
not providedPathogenic
(Jan 17, 2018)
no assertion criteria providedVCV000562655
30.
GRCh37:
Chr2:111366255-113111856
BUB1, BCL2L11, MERTK, ACOXL, ANAPC1, ZC3H8, TMEM87B, FBLN7, ZC3H6not providedPathogenic
(Dec 27, 2017)
no assertion criteria providedVCV000562650
31.
GRCh37:
Chr2:111388618-113127751
RGPD8, BUB1, BCL2L11, MERTK, ACOXL, ANAPC1, ZC3H8, TMEM87B, FBLN7, ZC3H6not providedLikely pathogenic
(May 25, 2018)
no assertion criteria providedVCV000562649
32.
GRCh37:
Chr2:111872164-112530684
BCL2L11, ACOXL, ANAPC1not providedUncertain significance
(Apr 16, 2018)
no assertion criteria providedVCV000562607
33.
GRCh37:
Chr2:107096423-112235727
not providedLikely pathogenic
(Mar 30, 2018)
criteria provided, single submitterVCV000560135
34.
GRCh37:
Chr2:40607042-146902764
ACTG2, ACYP2, ADD2, ADRA2B, BIN1, ANXA4, ATP6V1B1, AUP1, BCYRN1, ZFP36L2, BUB1, CALM2, CAPG, CCNT2, CD8A, CD8B, CNGA3, COX5B, CTNNA2, DARS1, DBI, DCTN1, DGUOK, DNAH6, DOK1, DUSP2, EGR4, EMX1, EN1, EPAS1, ERCC3, FABP1, EFEMP1, FHL2, FSHR, GFPT1, GGCX, GLI2, GPR17, GPR39, MSH6, GYPC, HK2, HNMT, TLX2, FOXN2, IGKC, IL1A, IL1B, IL1R1, IL1RN, INHBB, INPP4A, AFF3, LCT, LHCGR, LIMS1, EPCAM, MXD1, MAL, MAT2A, MCM6, MDH1, MEIS1, MGAT5, MSH2, MTIF2, MYO7B, NPAS2, NPHP1, OTX1, REG3A, PCBP1, PEX13, PIGF, PLEK, PLGLB1, POLR2D, POU3F3, PPM1B, PPP3R1, PRKCE, PROC, PTPN4, RAB1A, RALB, RANBP2, REL, REG1A, REG1B, RPL31, RPS27A, RTKN, SCTR, SFTPB, SIX3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC20A1, SNRPG, SPR, SPTBN1, SULT1C2, TACR1, GCFC2, TGFA, TIA1, TSN, UGP2, VRK2, XPO1, ZAP70, ZNF2, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, DYSF, NCK2, DUSP11, VAMP8, MARCO, SUCLG1, IL18RAP, IL1RL2, IL18R1, ST3GAL5, DDX18, KYNU, NAT8, COX7A2L, TMSB10, IL1RL1, NRXN1, CIAO1, TGFBRAP1, HS6ST1, CRIPT, MAP4K4, EIF2AK3, CHST10, PREPL, GCC2, SOCS5, EIF5B, USP34, SERTAD2, MRPL19, ZEB2, ARHGAP25, BCL2L11, ACTR3, ACTR2, ACTR1B, LRPPRC, TXNDC9, MPHOSPH10, SMYD5, C1D, MERTK, SEMA4F, CCT7, CCT4, GNLY, STAMBP, TGOLN2, B3GNT2, USP39, SIX2, MAP3K2, VAMP5, MTHFD2, ARID5A, PROKR1, EDAR, GPR75, IMMT, SNRNP27, GTF2A1L, STON1, TBC1D8, RABL2A, NXPH2, GPR45, MGAT4A, AAK1, RAB3GAP1, RPIA, SNRNP200, CEP68, UBXN4, PSME4, EXOC6B, EHBP1, CLASP1, NCAPH, RHOQ, HAAO, TMEM131, R3HDM1, PSD4, WBP1, VAX2, POLR1A, CNRIP1, UNC50, RAB11FIP5, PTPN18, CNNM4, CNNM3, IL36RN, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, BMP10, ZNF638, HTRA2, EML4, LGALSL, C2orf27A, TFCP2L1, KCNIP3, CD207, ARHGEF4, TPRKB, FAHD2A, WDPCP, ASB3, INSIG2, ANKRD39, FAM178B, RNF181, MRPL30, KRCC1, MRPL35, PCYOX1, REV1, NAT8B, VPS54, LIPT1, DYNC2LI1, CHMP3, BCL11A, LRP1B, ETAA1, CCDC93, AFTPH, RETSAT, SEMA4C, C2orf42, PTCD3, PLEKHB2, FANCL, SRBD1, MOB1A, STEAP3, THNSL2, ACOXL, WDR33, CNOT11, NAGK, SMPD4, TMEM127, IWS1, LIMS2, KANSL3, CCDC88A, KDM3A, ARHGAP15, CFC1, GKN1, IL36G, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, PNO1, STARD7, RTN4, PELI1, TTC7A, PPP4R3B, MTA3, DPP10, EPB41L5, ANKRD36B, SLC4A5, SLC5A7, THADA, ABCG5, ABCG8, GMCL1, TTC31, ANAPC1, RMND5A, PAPOLG, MRPS9, MRPS5, REEP1, SOWAHC, PDCL3, C2orf49, TMEM185B, SAP130, GTDC1, CAMKMT, ANKRD53, LRRTM4, MZT2B, MAP3K19, UXS1, FBXO11, SLC35F5, TSGA10, THSD7B, TMEM177, LMAN2L, TMEM163, TCF7L1, INO80B, AMMECR1L, WDR54, ZRANB3, RAB6C, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, CHCHD5, PRADC1, CCDC115, NIFK, ECRG4, ZC3H8, KIAA1841, ST6GAL2, IL1F10, MCEE, LOXL3, PCGF1, MFSD9, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, LBX2, PNPT1, FER1L5, MCFD2, ATP6V1E2, CCDC74A, CCDC74B, PKDCC, IMP4, SFXN5, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, CCDC85A, WDR92, LYPD1, MRPL53, PPP1R21, TRABD2A, TMEM150A, NMS, LYG1, MITD1, CNTNAP5, FBLN7, C2orf73, TRIM43, ACMSD, FAM168B, REG3G, CLHC1, PLEKHH2, C2orf76, TMEM182, M1AP, TMEM37, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, COMMD1, PROM2, FBXO41, GPAT2, ITPRIPL1, PUS10, SEPTIN10, FAHD2B, ASPRV1, LONRF2, CCDC138, OXER1, C1QL2, CLEC4F, DQX1, KCNG3, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, TMEM17, SPRED2, AMER3, LYG2, SH2D6, NT5DC4, RNF149, STPG4, RGPD4, STON1-GTF2A1L, SPOPL, CYP27C1, C2orf74, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, GPR148, LRRTM1, ANKRD36, ZC3H6, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, MIR128-1, MIR216A, MIR217, C2orf27B, ASTL, SULT1C3, POTEE, COA5, CHAC2, FBXO48, MSH2-OT1, ZNF806, TRIM43B, POTEI, CFC1B, RGPD3, POTEJ, MZT2A, RGPD8, POTEF, LINC01873, RGPD6, RGPD2, RFX8, RNU4ATAC, LIMS4, GPR75-ASB3, RNF103-CHMP3
not providedLikely pathogenic
(Feb 2, 2018)
no assertion criteria providedVCV000524189
35.
GRCh37:
Chr2:104172062-168223828
ACVR1, ACVR2A, BIN1, RND3, BUB1, CACNB4, CCNT2, DARS1, DBI, DPP4, EN1, ERCC3, FAP, FHL2, GALNT3, GCG, GLI2, GPD2, GPR17, GPR39, GRB14, GYPC, HNMT, IL1A, IL1B, IL1RN, INHBB, ITGB6, KCNJ3, LCT, LIMS1, LY75, MCM6, MGAT5, MYO7B, NEB, NPHP1, NR4A2, ORC4, POLR2D, POU3F3, PROC, PTPN4, RALB, RANBP2, RBMS1, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, SLC20A1, SULT1C2, TNFAIP6, TSN, PAX8, MALL, CXCR4, NCK2, PKP4, MARCO, DDX18, KYNU, NMI, TGFBRAP1, HS6ST1, CYTIP, GCC2, ZEB2, CD302, TANK, BCL2L11, ACTR3, PSMD14, STAM2, MERTK, TBR1, MAP3K2, EDAR, RABL2A, GALNT5, NXPH2, GPR45, COBLL1, PLA2R1, RAB3GAP1, UBXN4, CLASP1, R3HDM1, PSD4, GCA, EPC2, ARL5A, PTPN18, IL36RN, IL36B, IL37, IL36A, SULT1C4, MMADHC, C2orf27A, TFCP2L1, BAZ2B, ARHGEF4, INSIG2, LRP1B, CCDC93, PLEKHB2, FIGN, RIF1, STEAP3, ACOXL, WDR33, SMPD4, PRPF40A, IWS1, LIMS2, MBD5, ARHGAP15, CFC1, IL36G, RPRM, UGGT1, SLC4A10, ERMN, DPP10, EPB41L5, SLC5A7, IFIH1, ANAPC1, MARCHF7, MRPS9, SOWAHC, C2orf49, TMEM185B, SAP130, GTDC1, TTC21B, CSRNP3, MZT2B, MAP3K19, UXS1, SLC35F5, THSD7B, TMEM177, TMEM163, AMMECR1L, ZRANB3, RAB6C, POLR1B, RGPD5, CHCHD5, CCDC115, NIFK, ECRG4, ZC3H8, ST6GAL2, IL1F10, SFT2D3, TMEM87B, TANC1, KCNH7, CCDC74A, CCDC74B, DAPL1, IMP4, LIMS3, TUBA3E, TUBA3D, FMNL2, GALNT13, LYPD1, XIRP2, CNTNAP5, FBLN7, ACMSD, FAM168B, C2orf76, ACVR1C, LYPD6, LYPD6B, CCDC148, TMEM37, TTL, CKAP2L, CBWD2, SEPTIN10, ARL6IP6, SLC38A11, WDSUB1, UPP2, CCDC138, C1QL2, FOXD4L1, AMER3, NT5DC4, RGPD4, SPOPL, CYP27C1, NCKAP5, GPR148, RBM43, ZC3H6, MIR128-1, C2orf27B, SULT1C3, POTEE, ZNF806, POTEI, CFC1B, RGPD3, POTEJ, MZT2A, RGPD8, POTEF, RGPD6, RNU4ATAC, LIMS4, LY75-CD302
PARP Inhibitor responsedrug response
(Nov 27, 2017)
no assertion criteria providedVCV000523163
36.
GRCh37:
Chr2:111388618-113111870
BUB1, BCL2L11, MERTK, ACOXL, ANAPC1, ZC3H8, TMEM87B, FBLN7, ZC3H6See casesUncertain significance
(Aug 1, 2014)
no assertion criteria providedVCV000443191
37.
GRCh37:
Chr2:12771-242783384
TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, CYRIA, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, SLC66A3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, FAM166C, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, MSH2-OT1, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570, AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS1, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPTIN2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, ITPRID2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCHF4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCHF7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000442998
38.
GRCh37:
Chr2:12771-242783384
MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCHF4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCHF7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, CYRIA, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, SLC66A3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, FAM166C, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, MSH2-OT1, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570, AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2,