Known Familial Copy Number Variant(s)

Genes

A2ML1, AAAS, AAGAB, AARS, AARS2, ABAT, ABCA1, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCB6, ABCB7, ABCC6, ABCC8, ABCC9, ABCD, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD5, ACD, ACE, ACER3, ACO2, ACOX1, ACP5, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTN2, ACTN4, ACVR1, ACVR2B, ACVRL1, ACY1, ADA, ADA2, ADAM17, ADAM9, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, ADAR, ADCK3 (CABC1; COQ8), ADCK4, ADCY1, ADCY5, ADGRG1, ADGRG2, ADNP, ADSL, AEBP1, AFF2, AFF4, AFG3L2, AGA, AGK, AGL, AGPS, AGRN, AGT, AGTR1, AGTR2, AGXT, AHDC1, AHI1, AICDA, AIFM1, AIMP1, AIP, AIPL1, AIRE, AK1, AK2, AK7, AKAP9, AKR1C2, AKR1C4, AKR1E2, AKT3, ALAS2, ALDH181, ALDH18A1, ALDH1A3, ALDH1B1, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALK, ALMS1, ALOX12, ALOX12B, ALOXE3, ALPK3, ALPL, ALS2, ALX4, AMACR, AMH, AMHR2, AMN, AMPD2, ANG, ANGPTL3, ANK1, ANK2, ANK3, ANKH, ANKLE2, ANKRD1, ANKRD11, ANKRD26, ANKS6, ANKZF1, ANLN, ANO3, ANO5, ANOS1, AP1S1, AP1S2, AP2S1, AP3B1, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC, APOA1, APOA5, APOB, APOC2, APOC3, APOE, APOL1, APOPT1, APP, APPL1, APTX, AQP5, AR, ARFGEF2, ARG1, ARHGAP24, ARHGAP31, ARHGDIA, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC4, ARMC5, ARNT2, ARPC1B, ARSA, ARSB, ARSL (ARSE), ARX, ASAH1, ASL, ASNS, ASPA, ASPH, ASPM, ASS1, ASXL1, ASXL3, ATL1, ATM, ATP11C, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2C1, ATP5A1, ATP5E, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V0D2, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATPAF2, ATPAF2 (ATP12), ATR, ATRX, AUH, AURKC, AUTS2, AXIN2, B3GALNT2, B3GALT6, B3GALTL, B3GALTN2, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B9D1, B9D2, BACH2, BAG3, BAP1, BARD1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCL9L, BCO1, BCOR, BCS1L, BDP1, BEST1, BFSP1, BFSP2, BGN, BHLHA9, BICC1, BICD2, BIN1, BLANK, BLK, BLM, BLNK, BLOC1S3, BLOC1S6, BMP1, BMP15, BMP2, BMP4, BMP7, BMPR1A, BMPR1B, BMPR2, BOD1, BOLA3, BRAF, BRAT1, BRCA1, BRCA2, BRDT, BRIP1, BRWD3, BSCL2, BSND, BTD, BTK, BTRC, BVES, C10orf2, C12orf65, C150rf41, C16orf72, C19orf12, C1GALT1C1, C21orf2, C5orf42, C8orf37, C9orf72, CA5A, CABP2, CABP4, CACNA1A, CACNA1C, CACNA1D, CACNA1F, CACNA1S, CACNA2D1, CACNB2, CACNB4, CALM1, CALM2, CALM3, CALR, CALR3, CANT1, CAPN12, CAPN3, CARD11, CARD14, CARS2, CASK, CASP10, CASP14, CASP8, CASQ1, CASQ2, CASR, CAST, CATSPER1, CATSPER2, CAV1, CAV3, CAVIN4, CBL, CBLN2, CBS, CBX2, CC2D1A, CC2D2A, CCDC103, CCDC114, CCDC115, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC50, CCDC65, CCDC78, CCDC88A, CCM2, CCND2, CCNO, CD151, CD164, CD19, CD247, CD27, CD2AP, CD320, CD3D, CD3E, CD3G, CD3Z, CD40, CD40LG, CD46, CD59, CD79A, CD79B, CD81, CDAN1, CDC14A, CDC45, CDC5L, CDC73 (HRPT2), CDH1, CDH23, CDH3, CDHR1, CDK4, CDK5RAP2, CDKL5, CDKN1B, CDKN1C, CDKN2A, CDON, CDSN, CEACAM16, CEBPA, CEL, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP19, CEP290, CEP41, CERKL, CERS3, CETP, CFAP43, CFAP44, CFAP53, CFAP69, CFC1, CFH, CFL2, CFTR, CHAT, CHCHD10, CHD1L, CHD2, CHD7, CHD8, CHEK2, CHKB, CHM, CHMP1A, CHMP2B, CHMP4B, CHRM2, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNA7, CHRNB1, CHRNB2, CHRND, CHRNE, CHST14, CHST3, CHST6, CHST8, CHSY1, CHUK, CIB2, CISD2, CIT, CKAP2L, CLCN1, CLCN2, CLCN4, CLCN5, CLDN1, CLDN10, CLDN14, CLIC5, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CNBP, CNGA1, CNGA3, CNGB3, CNTN1, CNTNAP2, COA5 (C2ORF64), COA6, COASY, COCH, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COH1 (VPS13B), COL10A1, COL11A1, COL11A2, COL12A1, COL14A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, COLQ, COMP, COPA, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, CORO1A, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX4I2, COX6A1, COX6B1, COX7B, COX8A, CP, CPLX1, CPS1, CPT1A, CPT2, CR2, CRB1, CRB2, CRBN, CREB3L1, CREBBP, CRELD1, CRH, CRTAP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYGC, CRYGD, CRYGS, CRYM, CSF1R, CSF2RA, CSF2RB, CSF3R, CSNK2A1, CSPP1, CSRP3, CSTA, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTF1, CTLA4, CTNNA3, CTNNB1, CTNND1, CTNND2, CTNS, CTRC, CTSA, CTSC, CTSD, CTSF, CUBN, CUL4B, CXCR4, CYB5A, CYBA, CYBB, CYC1, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP1B1, CYP26B1, CYP27A1, CYP27B1, CYP2R1, CYP2U1, CYP4F22, CYP51A1, CYP7A1, CYP7B1, D2HGDH, DAG1, DARS, DARS2, DBT, DCAF17, DCDC1, DCDC2, DCHS1, DCLRE1B, DCLRE1C (ARTEMIS), DCTN1, DCX, DDHD1, DDHD2, DDOST, DDR2, DDX3X, DDX41, DEAF1, DEPDC5, DES, DFNA5, DFNB31 (WHRN), DFNB59, DGAT1, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHH, DHODH, DIABLO, DIAPH1, DIAPH3, DICER1, DISP1, DKC1, DLAT, DLD, DLL1, DLL3, DLL4, DLX5, DLX6, DMD, DMGDH, DMP1, DMPK, DMRT1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAJB2, DNAJB6, DNAJC12, DNAJC19, DNAJC21, DNAJC5, DNAJC6, DNAL1, DNASE1, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DOCK6, DOCK8, DOK7, DOLK, DPAGT1, DPCD, DPM1, DPM2, DPM3, DPY19L2, DPYS, DRAM2, DRC1, DSC2, DSC3, DSE, DSG1, DSG2, DSG3, DSG4, DSP, DSPP, DST, DSTYK, DTNA, DTNBP1, DUOX2, DUSP6, DUT, DVL1, DVL3, DYNC1H1, DYNC1I1, DYNC2H1, DYNC2LI1, DYRK1A, DYRK1B, DYSF, DZIP1L, EARS2, EBP, ECHS1, EDA, EDA1, EDA2R, EDAR, EDARADD, EDN3, EDNRB, EEF1A2, EFEMP2, EFHC1, EFNB1, EFTUD2, EGFR, EGR2, EHMT1, EIF2AK4, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, ELAC2, ELANE (ELA2), ELMOD3, ELN, ELOVL4, ELP4, EMD, EMP2, EMX2, ENG, ENO3, ENPP1, ENTPD1, EOGT, EOMES, EP300, EPB41, EPB42, EPCAM, EPHA2, EPM2A, EPO, EPS8, ERCC2, ERCC3, ERCC4, ERCC6, ERCC6L2, ERCC8, ERF, ERLIN2, ERMARD, ESCO2, ESPN, ESR1, ESRRB, ETFA, ETFB, ETFDH, ETHE1, ETV6, EVC, EVC2, EXOC8, EXOSC3, EXPH5, EXT1, EXT2, EYA1, EYA4, EYS, EZH2, F12, F2, F5, FA2H, FADD, FAH, FAM111B, FAM126A, FAM134B, FAM175A, FAM189A2, FAM20C, FAM65B, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FARS2, FASLG, FASTKD2, FAS (TNFRSF6), FAT1, FAT4, FBLN5, FBN1, FBN2, FBP1, FBXL4, FBXO7, FBXW4, FCGR2B, FDX1L, FDX2, FERMT1, FEZF1, FGD1, FGD4, FGF10, FGF12, FGF16, FGF17, FGF20, FGF23, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FH, FHL1, FHL2, FHOD3, FIG4, FIGLA, FITM2, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLCN, FLG, FLG2, FLNA, FLNB, FLNC, FMR1, FOLR1, FOXA2, FOXC1, FOXC2, FOXE3, FOXF1, FOXF2, FOXG1, FOXH1, FOXI1, FOXI3, FOXL2, FOXN1, FOXP1, FOXP3, FOXRED1, FRAS1, FREM1, FREM2, FRMD7, FRRS1L, FSHR, FT140, FTKN, FTL, FUCA1, FUS, FUT8, FYCO1, FZD4, G6PC, G6PC3, G6PD, GAA, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GALC, GALK1, GALNS, GALNT3, GALT, GAMT, GAN, GANAB, GARS, GAS1, GAS8, GATA1, GATA2, GATA3, GATA4, GATA5, GATA6, GATAD1, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GCKR, GCLC, GCNT2, GCSH, GDAP1, GDF1, GDF2, GDF3, GDF5, GDF6, GDF9, GFAP, GFAT1, GFER, GFI1, GFM1 (EFG1), GFM2, GFPT1, GH1, GHRHR, GIPC3, GJA1, GJA3, GJA5, GJA8, GJB1, GJB2, GJB2 (Cx26), GJB3, GJB3 (Cx31), GJB4, GJB4 (Cx30.3), GJB6, GJB6 (Cx30), GJC2, GJE1, GK, GLA, GLB1, GLDC, GLI2, GLI3, GLIS2, GLIS3, GLRA1, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GMPS, GNA11, GNAI3, GNAL, GNAO1, GNAS, GNAT1, GNB4, GNB5, GNE, GNPAT, GNPTAB, GNPTG, GNRH1, GNRHR, GNS, GOSR2, GP1BA, GPC3, GPD1, GPD1L, GPI, GPIHBP1, GPR143, GPR56, GPR98, GPSM2, GPX1, GRHL2, GRHL3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM6, GRM7, GRN, GRXCR1, GSN, GSR, GSS, GTDC2, GTF2H5, GTPBP3, GUCA1A, GUCY2C, GUCY2D, GUSB, GYG1, GYG2, GYS1, GYS2, H6PD, HAAO, HACE1, HADH, HADHA, HADHB, HARS, HARS2, HAX1, HBA1, HBA2, HBB, HCCS, HCFC1, HCN4, HDAC4, HDAC8, HEPACAM, HERC1, HES7, HESX1, HEXA, HEXB, HFE, HGF, HGSNAT, HIBCH, HINT1, HK1, HLCS, HLRCC, HMBS, HMGCL, HMGCS2, HMX1, HNF1A, HNF1B, HNF4A, HNRNPA2B1, HNRNPU, HOMER2, HOXA10, HOXA11, HOXA13, HOXB13, HOXD13, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HR, HRAS, HS6ST1, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSF4, HSPA1L, HSPB1, HSPB8, HSPD1, HSPG2, HTRA2, HUWE1, HYAL1, IARS2, IBA57, ICK, ICOS, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFNGR1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IGF1R, IGHMBP2, IGLL1, IHH, IKBKAP, IKBKG (NEMO), IKZF1, IL10, IL10RA, IL10RB, IL11RA, IL17RD, IL1RAPL1, IL21, IL21R, IL2RA, IL2RG, IL7R, ILDR1, ILK, IMPDH1, INAVA, INF2, INPP5E, INPPL1, INS, INSL3, INSR, INTU, INVS, IQSEC2, IRAK4, IRF2BP2, IRF6, ISCA2, ISCU, ISPD, ITCH, ITGA3, ITGA6, ITGA7, ITGA8, ITGB2, ITGB4, ITK, ITPA, ITPR1, IVD, JAG1, JAGN1, JAK2, JAK3, JAM3, JPH2, JUP, KAL1, KANK1, KANK2, KANK4, KANSL1, KARS, KAT6A, KAT6B, KATNB1, KBTBD13, KCNA2, KCNA5, KCNB1, KCNB2, KCNC1, KCND3, KCNE1, KCNE1L(KCNE5), KCNE2, KCNE3, KCNE5, KCNH1, KCNH2, KCNJ10, KCNJ11, KCNJ16, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNMA1, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KCNT1, KCTD10, KCTD7, KDM5C, KDM6A, KDSR, KIAA0196, KIAA0586, KIAA1279 (KIF1BP), KIAA2022 (NEXMIF), KIDINS220, KIF11, KIF1A, KIF1BP, KIF1C, KIF23, KIF2A, KIF5A, KIF5C, KIF7, KISS1, KISS1R, KIT, KITLG, KLF1, KLF10, KLF11, KLF4, KLHL10, KLHL24, KLHL40, KLHL41, KMT2A (MLL), KMT2B, KMT2D, KNL1, KRAS, KRIT1, KRT1, KRT10, KRT13, KRT14, KRT16, KRT17, KRT2, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT8, KRT85, KRT9, KYNU, L1CAM, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB2, LAMB3, LAMC2, LAMC3, LAMP2, LAMTOR2, LARGE, LARGE1, LARS, LARS2, LAS1L, LAT, LBR, LBX1, LCAT, LCT, LDB3, LDHA, LDLR, LDLRAP1, LEF1, LEFTY2, LEP, LEPR, LEPRE1(P3H1), LETM1, LFNG, LGI1, LHB, LHCGR, LHFPL5, LHL40, LHX1, LHX3, LIAS, LIFR, LIG4, LIM2, LIPA, LIPC, LIPH, LIPN, LIPT1, LITAF, LMBR1, LMBRD1, LMF1, LMNA, LMNB1, LMOD3, LMX1B, LONP1, LOR, LOX, LOXHD1, LPAR6, LPIN1, LPIN2, LPL, LPP, LRBA, LRMDA, LRP4, LRP5, LRP6, LRPPRC, LRRC10, LRRC6, LRRC8A, LRRK2, LRSAM1, LRTOMT, LSS, LTBP2, LTBP3, LTBP4, LYRM4, LYRM7, LYST, LZTFL1, LZTR1, LZTS1, MAD2L2, MAF, MAGEL2, MAGI2, MAGT1, MAMLD1, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MAP3K1, MAP3K20, MAP3K8, MAPT, MARS, MARS2, MARVELD2, MASP1, MASTL, MAT1A, MAT2A, MATR3, MAX, MBD5, MBL2, MBTPS2, MC1R, MC4R, MCCC1, MCCC2, MCEE, MCM2, MCOLN1, MCPH1, MECP2, MED12, MED13L, MED17, MEF2C, MEFV, MEGF10, MEGF8, MEIOB, MEN1, MET, MFAP5, MFF, MFN2, MFSD8, MGAM, MGAT2, MGME1, MGP, MIB1, MICU1, MID1, MIP, MIR184, MIR96, MITF, MKKS, MKRN3, MKS1, MLC1, MLH1, MLL2, MLPH, MLYCD, MMAA, MMAB, MMACHC, MME, MMP1, MMP13, MMP21, MMP9, MNX1, MOCS1, MOCS2, MOG, MOGS, MORC2, MPC1 (BRP44L), MPDU1, MPI, MPL, MPV17, MPZ, MRE11, MRE11A, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MS4A1, MSH2, MSH6, MSRB3, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTMR2, MTO1, MTOR, MTPAP, MTR, MT-RNR1, MTRR, MTTD, MT-TL1, MTTP, MT-TS1, MUSK, MUT, MUTYH, MVK, MY06, MYBPC3, MYCN, MYH11, MYH14, MYH2, MYH6, MYH7, MYH9, MYL2, MYL3, MYL4, MYLK, MYLK2, MYO15A, MYO1A, MYO1C, MYO1E, MYO1F, MYO3A, MYO5A, MYO5B, MYO6, MYO7A, MYOC, MYOM1, MYOT, MYOZ2, MYPN, MYT1L, NAA10, NAA15, NADK2, NADSYN1, NAGA, NAGLU, NAGS, NALCN, NANOS1, NARS2, NAXE, NBN, NCF2, NCF4, NDE1, NDP, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFAF7 (C2ORF56), NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NEBL, NECTIN1, NECTIN4, NEDD4L, NEFL, NEK1, NEK8, NEU1, NEUROD1, NEUROG3, NEXMIF, NEXN, NF1, NF2, NFAT5, NFIA, NFIX, NFKB1, NFKB2, NFKBIA, NFS1, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NID1, NIPA1, NIPAL4, NIPBL, NKX2-1, NKX2-5, NKX2.5, NKX2-6, NKX3-2, NLRC4, NLRP1, NLRP12, NLRP3 (CIAS1), NME8, NOBOX, NOD2 (CARD15), NODAL, NOG, NOP10, NOS1AP, NOTCH1, NOTCH2, NOTCH3, NOX1, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NPPA, NPRL3, NR0B1, NR0B2, NR2E3, NR2F1, NR5A1, NRAS, NRXN1, NSD1, NSD2, NSDHL, NSMF (NELF), NSUN2, NT5C2, NT5C3A, NTF4, NTHL1, NTRK1, NTRK2, NUBPL, NUP107, NUP205, NUP93, NYX, OAT, OCA2, OCLN, OCRL, OFD1 (CXORF5), ONLY), OPA1, OPA3, OPHN1, OPTC, OPTN, ORAI1, OSBPL2, OTC, OTOA, OTOF, OTOG, OTOGL, OTX2, P2RX2, P3H1(LEPRE1), P3H2, P4HB, PABPN1, PACRG, PACS1, PADI3, PAFAH1B1, PAH, PALB2, PALLD, PANK2, PAPSS2, PARK2, PARK7, PARN, PARS2, PASK, PAX2, PAX3, PAX4, PAX5, PAX6, PAX9, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH15, PCDH19, PCNT, PCSK1, PCSK5, PCSK9, PDCD10, PDE11A, PDE4D, PDE6A, PDE6B, PDE6D, PDGFB, PDHA1, PDHB, PDHX, PDK3, PDLIM3, PDP1, PDSS1, PDSS2, PDX1, PDYN, PDZD7, PEO1, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKL, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHEX, PHF6, PHGDH, PHIP, PHKA1, PHKA2, PHKB, PHKG2, PHOX2B, PHYH, PI4KA, PIEZO1, PIFO, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PIH1D3, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PINK1, PITPNM3, PITX2, PITX3, PKD1, PKD2, PKHD1, PKLR, PKP1, PKP2, PLA2G6, PLCB1, PLCD1, PLCE1, PLCG2, PLCZ1, PLEC, PLEC1, PLEKHG2, PLEKHG5, PLEKHM2, PLN, PLOD1, PLOD2, PLOD3, PLP1, PLS3, PLVAP, PMM2, PMP22, PMS2, PNKD, PNKP, PNP, PNPLA1, PNPLA2, PNPLA6, PNPO, PNPT1, POC1A, POC1B, POFUT1, POGLUT1, POGZ, POLD1, POLE, POLG, POLG2, POLL, POLR1C, POLR1D, POLR3A, POLR3B, POMC, POMGNT1, POMGNT2, POMK, POMP, POMT1, POMT2, POR, PORCN, POT1, POU3F4, POU4F3, PP1B, PPA2, PPIB, PPP1CB, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRDM12, PRDM16, PRDM5, PRF1, PRICKLE1, PRKAG2, PRKAR1A, PRKCD, PRKDC, PRKG1, PRKRA, PRMT7, PRNP, PRODH, PROK2, PROKR2, PROM1, PROP1, PRPF3, PRPF31, PRPF8, PRPH, PRPS1, PRRT2, PRSS1, PRSS56, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSMC3IP, PSTPIP1, PTCH1, PTCHD1, PTEN, PTH1R, PTHLH, PTPN11, PTPRC, PTPRO, PTPRQ, PTRH2, PTS, PURA, PUS1, PXDN, PYCR1, PYCR2, PYGM, QARS, QDPR, QKI, RAB18, RAB23, RAB27A, RAB28, RAB39B, RAB3GAP1, RAB3GAP2, RAB7A, RAC2, RAD21, RAD50, RAD51, RAD51C, RAD51D, RAF1, RAG1, RAG2, RAI1, RANBP2, RANGRF, RAPSN, RARS, RARS2, RASA1, RASA2, RAX, RAX2 (QRX), RB1, RBBP6, RBBP8, RBCK1, RBFOX1, RBM20, RBM8A, RBMX, RBPJ, RDH5, RDS (PRPH2), RDX, RECQL, RECQL2, RECQL4, REEP1, REL, RELA, RELB, RELN, REN, RESIDUE, RET, RETREG1, RFT1, RFWD3, RFX5, RFX6, RFXANK, RFXAP, RGS6, RHAG, RHBDF2, RHO, RIMS1, RIN2, RIPK4, RIT1, RLBP1, RMND1, RMRP, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF135, RNF216, RNLS, ROBO2, ROR2, RP1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPN2, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS6KC1, RPS7, RRAGA, RRAS, RRM2B, RSK2 (RPS6KA3), RSPH1, RSPH3, RSPH4A, RSPH9, RSPO1, RSPO4, RTEL1, RTN2, RTTN, RUNX1, RUNX2, RXYLT1, RYR1, RYR2, S1PR2, SACS, SAG, SALL1, SALL4, SAMD9, SAMD9L, SAMHD1, SAR1B, SARS2, SASH1, SATB2, SBDS, SBF1, SBF2, SC5D, SCARB1, SCARB2, SCARF2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCNN1A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SDR9C7, SEC23A, SEC23B, SEC24D, SEMA3A, SEMA3E, SEMA4A, SEPN1, SEPSECS, SEPT12, SEPT9, SERAC1, SERPINA1, SERPINB4, SERPINB6, SERPINB7, SERPINB8, SERPINF1, SERPING1 (C1INH), SERPINH1, SETBP1, SETD2, SETD5, SETX, SF3B4, SFTPB, SFTPC, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGPL1, SGSH, SH2B3, SH2D1A, SH3BP2, SH3PXD2B, SH3TC2, SHANK3, SHBG, SHH, SHPK, SI, SIAE, SIGMAR1, SIL1, SIM1, SIPA1L3, SIX1, SIX2, SIX3, SIX5, SIX6, SKI, SKIV2L, SLC12A6, SLC13A5, SLC16A12, SLC16A2, SLC17A5, SLC17A8, SLC19A2, SLC19A3, SLC1A4, SLC20A2, SLC22A5, SLC24A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A3 (PHC), SLC25A4, SLC25A46, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8, SLC27A4, SLC2A1, SLC2A10, SLC2A2, SLC2A5, SLC30A10, SLC33A1, SLC34A1, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A13, SLC39A4, SLC39A8, SLC45A2, SLC46A1, SLC4A1, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A7, SLC6A1, SLC6A3, SLC6A8, SLC7A7, SLC9A3, SLC9A3R1, SLC9A6, SLITRK6, SLMAP, SLURP1, SLX4, SMAD1, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SMARCA2, SMARCA4, SMARCAD1, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMN1, SMN2, SMPD1, SMPX, SMS, SNAI2, SNAP29, SNCA, SNIP1, SNTA1, SNX14, SOCS4, SOD1, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX9, SP7, SPAG1, SPARC, SPAST, SPATA16, SPATA5, SPECC1L, SPG11, SPG20, SPG21, SPG7, SPINK1, SPINK5, SPINT2, SPR, SPRED1, SPRX2, SPRY1, SPRY4, SPTA1, SPTAN1, SPTB, SPTLC1, SPTLC2, SQSTM1, SRD5A2, SRD5A3, SRP54, SRP72, SRPX2, SRY, SSR4, ST14, ST3GAL3, ST3GAL5, STAMBP, STAP1, STAR, STAT1, STAT3, STAT5B, STIL, STIM1, STK11, STN1, STRA6, STRC, STS, STT3A, STT3B, STX11, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUN5, SURF1, SYCE1, SYCP3, SYN1, SYNE1, SYNE2, SYNE4, SYNGAP1, SYNJ1, SYT2, SZT2, TAB2, TAC3, TACO1, TACR3, TAF15, TAF2, TAF4B, TALDO1, TANGO2, TAPT1, TARDBP, TARS2, TAT, TAZ, TBC1D20, TBC1D24, TBC1D7, TBK1, TBL1XR1, TBX1, TBX15, TBX20, TBX3, TBX5, TCAP, TCF12, TCF4, TCIRG1, TCN2, TCOF1, TCTEX1D2, TCTN1, TCTN2, TCTN3, TDGF1, TDRD7, TECPR2, TECRL, TECTA, TENM3, TERC, TERF2IP, TERT, TET2, TEX11, TEX14, TEX15, TFAM, TFAP2A, TFG, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF, TGIF1, TGM1, TGM5, TH, THAP1, THOC2, THPO, TIMM44, TIMM8A, TINF2, TJP2, TK2, TM4SF20, TMC1, TMCO1, TMEM126A, TMEM126B, TMEM127, TMEM138, TMEM165, TMEM17, TMEM173, TMEM187, TMEM199, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM43, TMEM5, TMEM67, TMEM70, TMIE, TMPO, TMPRSS3, TMPRSS5, TNC, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF6, TNFRSF6B, TNFSF12, TNNC1, TNNI2, TNNI3, TNNI3K, TNNT1, TNNT2, TNPO3, TNXB, TOR1A, TOR1AIP1, TP53, TP63, TPI1, TPK1, TPM1, TPM2, TPM3, TPP1 (CLN2), TPP2, TPRN, TRAF3IP1, TRAF6, TRAP1, TRAPPC11, TRAPPC9, TRDN, TREM2, TREX1, TRIM2, TRIM22, TRIM32, TRIM37, TRIM63, TRIM71, TRIO, TRIOBP, TRIP11, TRIP4, TRIT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRNT1, TRPC6, TRPM1, TRPM4, TRPV3, TRPV4, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSGA10, TSPAN, TSPAN12, TSPEAR, TSPYL1, TSR2, TTC19, TTC21B, TTC37, TTC7A, TTC8, TTLL5, TTN, TTR, TUB, TUBA1A, TUBA4A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TWIST2, TWNK, TXNRD2, TYK2, TYMP, TYR, TYROBP, TYRP1, UBA1, UBE2A, UBE2T, UBE3A, UBQLN2, UBR1, UCP3, UMOD, UNC13D, UNC45B, UNG, UPB1, UPF3B, UPK3A, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, USB1, USH1C, USH1G, USH2A, USP9X, USP9Y, VAMP7, VAPB, VARS2, VAV1, VCL, VCP, VDR, VHL, VIM, VIPAS39, VLDLR, VPS11, VPS13A, VPS13B, VPS13B (COH1), VPS33A, VPS33B, VPS35, VPS37A, VPS45, VPS53, VRK1, VSX2 (CHX10), WAC, WAS, WDPCP, WDR11, WDR19, WDR34, WDR35, WDR36, WDR45, WDR60, WDR62, WDR87, WFS1, WHRN, WHRN/DFNB31, WIPF1, WNK1, WNT1, WNT10A, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WNT9B, WRAP53, WRN, WT1, WWOX, XIAP, XK, XLRS1 (RS1), XPO5, XPR1, XRCC2, XRCC4, XYLT1, XYZ, YARS, YARS2, ZAP70, ZC4H2, ZEB2, ZFPM2, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYND10, ZMYND10., ZMYND15, ZNF335, ZNF423, ZNF469, ZNF711, ZNF750

Conditions

• Carrier/Variant-Specific Testing
• Carrier/Variant-Specific Testing - Nuclear Variants

Lab Method

• Deletion/Duplication Analysis