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+ Genes 816

Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC006486.1, AC008686.1, AC010642.1, AC011500.1, AC012313.1, AC018755.1, AC020907.1, AC020922.1, AC024592.12, AC074212.3, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADCK4, AES, AKAP8L, ALDH16A1, AMH, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP3D1, APBA3, APC2, APOE, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASF1B, ASPDH, ATF5, ATP13A1, ATP1A3, ATP4A, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BAX, BCAM, BCAT2, BCKDHA, BIRC8, BRSK1, BSG, C19orf10, C19orf12, C19orf24, C19orf26, C19orf45, C19orf54, C19orf55, C19orf57, C19orf59, C19orf68, C19orf71, C19orf73, C19orf81, C19orf84, C2CD4C, C3, C5AR1, CA11, CABP5, CACNA1A, CACNG6, CACTIN, CALR, CALR3, CAMSAP3, CAPN12, CARD8, CATSPERG, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC124, CCDC151, CCDC155, CCDC159, CCDC61, CCL25, CD177, CD33, CD37, CD3EAP, CD97, CDC34, CDKN2D, CEACAM1, CEACAM18, CEACAM21, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEP89, CERS1, CERS4, CHAF1A, CHERP, CIB3, CIC, CILP2, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC4G, CLEC4M, CLPTM1, CNN2, CNOT3, CNTD2, COL5A3, COLGALT1, COPE, CPAMD8, CPT1C, CRB3, CRLF1, CRTC1, CSNK1G2, CTC-360G5.8, CTD-2368P22.1, CTD-3193O13.9, CYP2A6, CYP2A7, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DAPK3, DCAF15, DEDD2, DENND1C, DHDH, DKKL1, DLL3, DMKN, DMRTC2, DMWD, DNAAF3, DNASE2, DNMT1, DOCK6, DOT1L, DPY19L3, EBI3, ECH1, EEF2, EGLN2, EHD2, EID2, EID2B, EIF3G, ELAVL1, EMC10, EML2, EMR1, EMR2, EMR3, ERCC1, ERCC2, ERF, ERVV-2, ETFB, ETHE1, EVI5L, EXOSC5, FAM129C, FAM187B, FAM71E2, FBN3, FBXO17, FCAR, FCER2, FCGBP, FCGRT, FCHO1, FDX1L, FFAR1, FFAR3, FGF22, FIZ1, FLT3LG, FOSB, FOXA3, FPR1, FPR3, FSD1, FSTL3, FTL, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD3, FXYD5, FXYD7, GADD45B, GALP, GATAD2A, GCDH, GDF1, GDF15, GFY, GIPC1, GIPR, GLTSCR1, GLTSCR2, GNA11, GNA15, GNG8, GP6, GPATCH1, GPR108, GPX4, GRAMD1A, GRIN2D, GRIN3B, GRWD1, GSK3A, GTPBP3, GZMM, HAPLN4, HAS1, HAUS5, HCN2, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HRC, HSD17B14, HSH2D, HSPBP1, ICAM1, ICAM3, ICAM5, IFI30, IFNL3, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INSL3, INSR, IRF2BP1, IRF3, IRGQ, ITPKC, JAK3, JSRP1, KANK2, KANK3, KCNA7, KCNC3, KDM4B, KEAP1, KHSRP, KIAA0355, KIAA1683, KIR2DL1, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KLC3, KLF1, KLF2, KLHL26, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK7, KLK8, KLK9, KMT2B, KPTN, KRI1, KXD1, LAIR1, LDLR, LENG1, LENG8, LENG9, LGALS14, LGALS16, LGI4, LHB, LILRA3, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LIPE, LMNB2, LMTK3, LONP1, LPAR2, LPHN1, LPPR3, LRP3, LRRC25, LRRC4B, LRRC8E, LSR, LTBP4, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP3K10, MARCH2, MARK4, MAST1, MAST3, MAU2, MBD3L1, MBOAT7, MCOLN1, MED16, MEGF8, MFSD12, MIDN, MIER2, MISP, MPND, MRPL54, MUC16, MUM1, MVB12A, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NANOS3, NCLN, NDUFA11, NDUFA3, NDUFA7, NDUFS7, NFIC, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOTCH3, NPAS1, NR1H2, NR2F6, NTF4, NTN5, NUCB1, NUDT19, NUP62, NWD1, NXNL1, OCEL1, ODF3L2, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A17, OR7C1, OR7C2, OR7E24, OR7G2, OR7G3, OSCAR, OVOL3, PAK4, PALM, PALM3, PAPL, PCP2, PDCD2L, PDE4C, PEG3, PEX11G, PGLS, PHLDB3, PIAS4, PIH1D1, PIK3R2, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, PNMAL1, PNMAL2, PNPLA6, POLD1, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPFIA3, PPM1N, PPP1R15A, PPP1R37, PPP5C, PRAM1, PRKCG, PRKCSH, PRKD2, PRR12, PRRG2, PRSS57, PRX, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PTBP1, PTGER1, PTGIR, PTH2, PTOV1, PTPRH, PTPRS, PVR, PVRL2, RAB11B, RAB3A, RAB3D, RAB4B, RAB8A, RASIP1, RAVER1, RCN3, RDH13, RDH8, REXO1, RFPL4A, RFPL4AL1, RFX1, RFX2, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RNF126, RPL28, RPS16, RPS5, RRAS, RSPH6A, RTBDN, RYR1, S1PR2, S1PR4, S1PR5, SAE1, SAMD1, SBK2, SBK3, SBNO2, SBSN, SCAF1, SDHAF1, SELV, SERTAD1, SERTAD3, SH3GL1, SHANK1, SHD, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC39A3, SLC44A2, SLC6A16, SLC7A9, SLC8A2, SMARCA4, SNAPC2, SNRPA, SPIB, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SYDE1, SYMPK, SYNE4, SYT3, TARM1, TBC1D17, TBXA2R, TCF3, TDRD12, TEX101, TGFB1, THAP8, THEG, THOP1, TICAM1, TIMM44, TIMM50, TJP3, TMC4, TMEM143, TMEM150B, TMEM161A, TMEM221, TMEM238, TMEM259, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNI3, TNNT1, TOMM40, TPGS1, TPRX1, TPRX2P, TRAPPC5, TRIM28, TRPM4, TSEN34, TSHZ3, TSKS, TSSK6, TUBB4A, TYROBP, U2AF2, UBA2, UBA52, UBE2S, UBXN6, UNC13A, UPF1, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VN1R2, VN1R4, VSIG10L, WDR18, WDR62, WDR87, WDR88, WTIP, XAB2, XRCC1, YIPF2, ZBTB32, ZFP28, ZFP82, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF112, ZNF132, ZNF134, ZNF135, ZNF14, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF180, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF227, ZNF229, ZNF233, ZNF235, ZNF256, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF358, ZNF382, ZNF404, ZNF414, ZNF415, ZNF416, ZNF417, ZNF429, ZNF432, ZNF433, ZNF439, ZNF440, ZNF441, ZNF443, ZNF446, ZNF45, ZNF460, ZNF470, ZNF471, ZNF480, ZNF486, ZNF490, ZNF493, ZNF497, ZNF507, ZNF524, ZNF526, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF552, ZNF554, ZNF555, ZNF557, ZNF559, ZNF564, ZNF565, ZNF567, ZNF568, ZNF57, ZNF571, ZNF573, ZNF577, ZNF578, ZNF579, ZNF580, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587B, ZNF600, ZNF606, ZNF607, ZNF610, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF66, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF69, ZNF701, ZNF708, ZNF709, ZNF714, ZNF724P, ZNF729, ZNF730, ZNF737, ZNF765, ZNF77, ZNF787, ZNF788, ZNF792, ZNF793, ZNF799, ZNF8, ZNF808, ZNF813, ZNF83, ZNF837, ZNF845, ZNF85, ZNF850, ZNF865, ZNF880, ZNF91, ZNF98, ZNRF4, ZSCAN1, ZSCAN4, ZSCAN5B, ZSCAN5C, ZSCAN5D, ZSWIM4, hsa-mir-1199, hsa-mir-150,

+ Genes associated with diseases 131

Genes at Omim

ABCA7, ACTN4, ADAMTS10, ADAT3, AMH, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, AURKC, B9D2, BAX, BCAT2, BCKDHA, BSG, C19orf12, C3, CACNA1A, CALR, CC2D1A, CCDC114, CCDC151, CERS1, CIC, CLEC4M, COLGALT1, CPAMD8, CPT1C, CRLF1, CRTC1, CYP2A6, DLL3, DNAAF3, DNMT1, DOCK6, EEF2, ERCC1, ERCC2, ERF, ETFB, ETHE1, FDX1L, FTL, FUT2, FUT3, FUT6, FUZ, GCDH, GDF1, GIPR, GNA11, GP6, GPX4, GRIN2D, GTPBP3, ICAM1, IFNL3, IL12RB1, INSL3, INSR, IRF3, ITPKC, JAK3, KANK2, KCNC3, KIR3DL1, KLF1, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LIPE, LMNB2, LONP1, LTBP4, MAG, MAN2B1, MAP2K2, MAST1, MBOAT7, MCOLN1, MEGF8, MYH14, MYO9B, NDUFA11, NDUFS7, NLRP12, NOTCH3, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKCG, PRKCSH, PRX, RAB11B, RFXANK, RGS9BP, RYR1, S1PR2, SDHAF1, SH3GL1, SIPA1L3, SIX5, SLC7A9, SMARCA4, SPTBN4, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TIMM50, TNNI3, TNNT1, TRPM4, TSEN34, TUBB4A, TYROBP, WDR62, XRCC1,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADAT3 Mental retardation, autosomal recessive 36, 615286 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
APC2 ?Sotos syndrome 3, 617169 (3)
APOE Alzheimer disease-2, 104310 (3)
Hyperlipoproteinemia, type III, 617347 (3)
Lipoprotein glomerulopathy, 611771 (3)
Sea-blue histiocyte disease, 269600 (3)
{?Macular degeneration, age-related}, 603075 (3)
{Coronary artery disease, severe, susceptibility to}, 617347 (3)
ARHGEF18 Retinitis pigmentosa 78, 617433 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
AURKC Spermatogenic failure 5, 243060 (3)
B9D2 Joubert syndrome 34, 614175 (3)
?Meckel syndrome 10, 614175 (3)
BAX Colorectal cancer, somatic, 114500 (3)
T-cell acute lymphoblastic leukemia, somatic, 613065 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BSG [Blood group, OK], 111380 (3)
C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 (3)
?Spastic paraplegia 43, autosomal recessive, 615043 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CALR Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC151 Ciliary dyskinesia, primary, 30, 616037 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
CIC Mental retardation, autosomal dominant 45, 617600 (3)
CLEC4M SARS infection, protection against (2)
COLGALT1 Brain small vessel disease 3, 618360 (3)
CPAMD8 Anterior segment dysgenesis 8, 617319 (3)
CPT1C ?Spastic paraplegia 73, autosomal dominant, 616282 (3)
CRLF1 Cold-induced sweating syndrome 1, 272430 (3)
CRTC1 Mucoepidermoid salivary gland carcinoma (3)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (3)
{Nicotine addiction, protection from}, 188890 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC2 ?Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ERF Chitayat syndrome, 617180 (3)
Craniosynostosis 4, 600775 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
ETHE1 Ethylmalonic encephalopathy, 602473 (3)
FDX1L Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)
FTL Hyperferritinemia-cataract syndrome, 600886 (3)
L-ferritin deficiency, dominant and recessive, 615604 (3)
Neurodegeneration with brain iron accumulation 3, 606159 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FUZ {Neural tube defects, susceptibility to}, 182940 (3)
GCDH Glutaricaciduria, type I, 231670 (3)
GDF1 Congenital heart defects, multiple types, 6, 613854 (3)
Right atrial isomerism (Ivemark), 208530 (3)
GIPR [Plasma glucose, 2-hour, QTL 2] (2)
GNA11 Hypocalcemia, autosomal dominant 2, 615361 (3)
Hypocalciuric hypercalcemia, type II, 145981 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRIN2D Epileptic encephalopathy, early infantile, 46, 617162 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
ICAM1 {Malaria, cerebral, susceptibility to}, 611162 (3)
IFNL3 {Hepatitis C virus infection, response to therapy of}, 609532 (3)
IL12RB1 Immunodeficiency 30, 614891 (3)
INSL3 Cryptorchidism, 219050 (3)
INSR Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Rabson-Mendenhall syndrome, 262190 (3)
IRF3 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3)
ITPKC {Kawasaki disease, susceptibility to}, 611775 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
KANK2 Nephrotic syndrome, type 16, 617783 (3)
Palmoplantar keratoderma and woolly hair, 616099 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KLF1 Blood group--Lutheran inhibitor, 111150 (3)
Dyserythropoietic anemia, congenital, type IV, 613673 (3)
[Hereditary persistence of fetal hemoglobin], 613566 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KLK4 Amelogenesis imperfecta, type IIA1, 204700 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
KPTN Mental retardation, autosomal recessive 41, 615637 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LHB Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
LIPE Lipodystrophy, familial partial, type 6, 615980 (3)
LMNB2 {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
?Epilepsy, progressive myoclonic, 9, 616540 (3)
LONP1 CODAS syndrome, 600373 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAG Spastic paraplegia 75, autosomal recessive, 616680 (3)
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MBOAT7 Mental retardation, autosomal recessive 57, 617188 (3)
MCOLN1 Mucolipidosis IV, 252650 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11 Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
?Myofibromatosis, infantile 2, 615293 (3)
NTF4 Glaucoma 1, open angle, 1O, 613100 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 Optic atrophy 3 with cataract, 165300 (3)
3-methylglutaconic aciduria, type III, 258501 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PNPLA6 Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
?Laurence-Moon syndrome, 245800 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RAB11B Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3)
RFXANK MHC class II deficiency, complementation group B, 209920 (3)
RGS9BP Bradyopsia, 608415 (3)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
S1PR2 Deafness, autosomal recessive 68, 610419 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC7A9 Cystinuria, 220100 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SULT2B1 Ichthyosis, congenital, autosomal recessive 14, 617571 (3)
SYNE4 Deafness, autosomal recessive 76, 615540 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TIMM50 3-methylglutaconic aciduria, type IX, 617698 (3)
TNNI3 Cardiomyopathy, dilated, 1FF, 613286 (3)
Cardiomyopathy, familial restrictive, 1, 115210 (3)
Cardiomyopathy, hypertrophic, 7, 613690 (3)
?Cardiomyopathy, dilated, 2A, 611880 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TRPM4 Progressive familial heart block, type IB, 604559 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (3)
TYROBP Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
XRCC1 ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3)

Genes at Clinical Genomics Database

ACTN4, ADAMTS10, ADCK4, AMH, APOE, ATP1A3, AURKC, B9D2, BCAM, BCKDHA, BSG, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CCDC151, CERS1, CPT1C, CRLF1, CYP2A6, CYP4F2, DLL3, DNMT1, DOCK6, ERCC1, ERCC2, ERF, ETFB, ETHE1, FTL, FUT3, FUT6, FUZ, GCDH, GDF1, GNA11, GP6, GPX4, GTPBP3, IFNL3, IL12RB1, INSL3, INSR, IRF3, JAK3, KANK2, KCNC3, KLF1, KLK4, KPTN, LDLR, LHB, LIPE, LMNB2, LONP1, LTBP4, MAG, MAN2B1, MAP2K2, MCOLN1, MEGF8, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKCG, PRKCSH, PRX, RFXANK, RGS9BP, RYR1, S1PR2, SDHAF1, SIPA1L3, SIX5, SLC7A9, SMARCA4, STXBP2, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TNNI3, TNNT1, TRPM4, TSEN34, TUBB4A, TYROBP, WDR62, ZIM2, ZNF480, ZNF565,
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AMH Persistent Mullerian duct syndrome, type I
APOE Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
Lipoprotein glomerulopathy
Sea-blue histiocyte disease
ATP1A3 Alternating hemiplegia of childhood 2
AURKC Spermatogenic failure 5
B9D2 Meckel syndrome 10
BCAM Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
BCKDHA Maple syrup urine disease, type Ia
BSG Blood group, OK
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CALR3 Cardiomyopathy, familial hypertrophic, 19
CC2D1A Mental retardation, autosomal recessive 3
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary,30
CERS1 Epilepsy, progressive myoclonic 8
CPT1C Spastic paraplegia 73, autosomal dominant
CRLF1 Crisponi syndrome
Cold-induced sweating syndrome, type 1
CYP2A6 CYP2A6-related drug metabolism
CYP4F2 Warfarin metabolism
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNMT1 Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DOCK6 Adams-Oliver syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
ERF Craniosynostosis 4
ETFB Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
ETHE1 Ethylmalonic encephalopathy
FTL L-ferritin deficiency
Neurodegeneration with brain iron accumulation 3
Hyperferritinemia-cataract syndrome
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
FUZ Neural tube defects, susceptibility to
GCDH Glutaric aciduria, type I
GDF1 Transposition of the great arteries, dextro-looped 3
Double-outlet right ventricle
GNA11 Hypocalcemia 2, autosomal dominant
Hypocalciuric hypercalcemia, autosomal dominant
GP6 Bleeding disorder, platelet-type, 11
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3 Combined oxidative phosphorylation deficiency 23
IFNL3 Drug metabolism, IL28B-related
IL12RB1 Immunodeficiency 30
INSL3 Cryptorchidism
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
IRF3 Herpes simplex encephalitis, susceptibility to, 7
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
KANK2 Palmoplantar keratoderma and woolly hair
KCNC3 Spinocerebellar ataxia 13
KLF1 Anemia, dyserythropoietic congenital, type IV
Blood group, Lutheran inhibitor
KLK4 Amelogenesis imperfecta, type IIA1
KPTN Mental retardation, autosomal recessive 41
LDLR Hypercholesterolemia, familial
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
LIPE Abdominal obesity-metabolic syndrome 4
LMNB2 Liopdystrophy, partial, acquired
Epilepsy, progressive myoclonic, 9
LONP1 Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAG Spastic paraplegia, autosomal recessive 75
MAN2B1 Mannosidosis, alpha B, lysosomal
MAP2K2 Cardiofaciocutaneous syndrome
MCOLN1 Mucolipidosis IV
MEGF8 Carpenter syndrome 2
MYH14 Deafness, autosomal dominant 4
Deafness, autosomal dominant 4B
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
NDUFA11 Mitochondrial complex I deficiency
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
NTF4 Glaucoma 1, open angle, O
NUP62 Striatonigral degeneration, infantile
OPA3 3-methylglutaconic aciduria, type III
Optic atrophy 3, autosomal dominant
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PNPLA6 Boucher-Neuhauser syndrome
Laurence-Moon syndrome
Oliver-McFarlane syndrome
POLD1 Colorectal cancer, susceptibility to, 10
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
RFXANK MHC class II deficiency
RGS9BP Bradyopsia
RYR1 Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
S1PR2 Deafness, autosomal recessive 68
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
SLC7A9 Cystinuria
SMARCA4 Rhabdoid tumor predisposition syndrome 2
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF3 Agammaglobulinemia 8, autosomal dominant
TGFB1 Camurati-Engelmann disease
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TNNI3 Cardiomyopathy, familial hypertrophic 7
Cardiomyopathy, dilated 1FF
Cardiomyopathy, dilated, 2A
Cardiomyopathy, familial restrictive
TNNT1 Nemaline myopathy 5
TRPM4 Progressive familial heart block, type IB
TSEN34 Pontocerebellar hypoplasia type 2C
TUBB4A Dystonia 4, torsion, autosomal dominant
Leukodystrophy, hypomyelinating, 6
TYROBP Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Nasu-Hakola disease
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 8628
Number of Genes: 816

Export to: CSV
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs999815
dbSNP Clinvar 		18368988 1523311.74 G A PASS 0/1 80 None None None 0.16733 0.16730 None None None None None None KIAA1683|0.000297901|99.41%
View 94533-0209701724_ms_onbait 19 rs999814
dbSNP Clinvar 		18368969 1728668.76 G A PASS 0/1 74 None None None 0.18550 0.18550 None None None None None None KIAA1683|0.000297901|99.41%

KIAA1683
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs999813
dbSNP Clinvar 		18368810 3945117.86 G T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.55112 0.55110 0.47119 0.17 0.00 None None None None None None KIAA1683|0.000297901|99.41%

NUP62
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs999583
dbSNP Clinvar 		50412417 2495225.2 G A PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.86042 0.86040 0.19245 None None None None None None IL4I1|0.005777959|84.86%,NUP62|0.0234097|72.45%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs998732
dbSNP Clinvar 		19378671 111622.59 A G PASS 0/1 29 None None None 0.12360 0.12360 None None None None None None TM6SF2|0.023055148|72.68%

PLIN3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9973235
dbSNP Clinvar 		4847713 1170996.43 A G PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.89517 0.89520 0.12677 0.80 0.00 None None None None None None PLIN3|0.015570736|76.73%

USP29
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9973206
dbSNP Clinvar 		57642782 2100040.49 C A PASS 1/1 19 STOP_GAINED HIGH None 0.95208 0.95210 0.11704 None None None None None None USP29|0.000863165|96.27%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9967607
dbSNP Clinvar 		42126448 250720.79 T C PASS 1/1 10 None None None 0.83846 0.83850 None None None None None None CEACAM4|0.00038728|99.02%

ZNF132
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9941466
dbSNP Clinvar 		58945962 6210714.64 C T PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.95567 0.95570 0.03937 None None None None None None ZNF132|0.002376035|89.95%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs984692
dbSNP Clinvar 		16006074 90776.46 T A PASS 0/1 12 None None None 0.21306 0.21310 None None None None None None CYP4F2|0.005649881|85.05%
View 94533-0209701724_ms_onbait 19 rs982389326
dbSNP Clinvar 		30205727 48583.76 A C PASS 0/1 8 None None None None None None None None None C19orf12|0.015097362|77.08%

MIDN
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9823
dbSNP Clinvar 		1256998 592039.88 C T PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.30192 0.30190 0.26783 None None None None None None MIDN|0.022282915|73.04%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9807898
dbSNP Clinvar 		49902990 842670.33 A C PASS 0/1 12 None None None 0.52895 0.52900 None None None None None None CCDC155|0.038242754|66.37%
View 94533-0209701724_ms_onbait 19 rs9789253
dbSNP Clinvar 		58301946 622070.87 G A PASS 0/1 30 None None None 0.16434 0.16430 None None None None None None ZNF586|0.001021821|95.31%
View 94533-0209701724_ms_onbait 19 rs9783983
dbSNP Clinvar 		33240570 1597136.15 G A PASS 0/1 17 None None None 0.47863 0.47860 None None None None None None TDRD12|0.059882976|59.89%
View 94533-0209701724_ms_onbait 19 rs978253831
dbSNP Clinvar 		6955007 365.52 TG T PASS 0/1 22 None None None None None None None None None None

NLRP13
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs977070
dbSNP Clinvar 		56423074 2448883.05 C G PASS 0/1 62 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.55152 0.55150 0.46609 None None None None None None NLRP13|0.000496245|98.45%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9749567
dbSNP Clinvar 		8657166 128767.44 C A PASS 1/1 5 None None None 0.94709 0.94710 None None None None None None ADAMTS10|0.099701531|51.23%

ZNF211
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9749449
dbSNP Clinvar 		58144715 322547.14 A G PASS 1/1 24 START_LOST HIGH None 0.21446 0.21450 0.15526 1.00 0.00 None None None None None None ZNF211|0.001054755|95.15%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9749144
dbSNP Clinvar 		8201249 1132021.63 C A PASS 0/1 48 None None None 0.00120 0.32550 0.21555 None None None None None None FBN3|0.011258615|79.83%
View 94533-0209701724_ms_onbait 19 rs970101
dbSNP Clinvar 		1013021 124103.51 A G PASS 0/1 8 None None None 0.67392 0.67390 None None None None None None TMEM259|0.017070109|75.8%
View 94533-0209701724_ms_onbait 19 rs968491
dbSNP Clinvar 		52002488 4323633.96 C A PASS 1/1 75 None None None 0.82548 0.82550 0.11533 None None None None None None SIGLEC12|0.000634247|97.66%
View 94533-0209701724_ms_onbait 19 rs9677009
dbSNP Clinvar 		7999874 556483.17 C T PASS 0/1 27 None None None 0.07009 0.07009 None None None None None None TIMM44|0.163638215|41.07%

ZNF530
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9677004
dbSNP Clinvar 		58117083 726723.81 A G PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.29752 0.29750 0.25934 1.00 0.00 None None None None None None ZNF530|0.000552199|98.17%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9676996
dbSNP Clinvar 		58116929 148053.04 A C PASS 1/1 12 None None None 0.29673 0.29670 None None None None None None ZNF530|0.000552199|98.17%
View 94533-0209701724_ms_onbait 19 rs9676886
dbSNP Clinvar 		46511617 83338.95 C T PASS 0/1 14 None None None 0.23522 0.23520 None None None None None None CCDC61|0.034771259|67.54%
View 94533-0209701724_ms_onbait 19 rs9676693
dbSNP Clinvar 		2116400 1011694.11 C T PASS 0/1 39 None None None 0.32668 0.32670 None None None None None None AP3D1|0.055098943|61.17%

ZSCAN4
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9676604
dbSNP Clinvar 		58189287 616698.97 C T PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.15935 0.15930 0.16208 None None None None None None ZSCAN4|0.001202144|94.4%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9676447
dbSNP Clinvar 		49424247 100725.73 C T PASS 0/1 9 None None None 0.79533 0.79530 None None None None None None NUCB1|0.059659467|59.96%
View 94533-0209701724_ms_onbait 19 rs9676422
dbSNP Clinvar 		51890765 196374.1 G A PASS 0/1 39 None None None 0.11142 0.11140 None None None None None None LIM2|0.294702633|28.07%
View 94533-0209701724_ms_onbait 19 rs967591
dbSNP Clinvar 		45909934 321768.45 G A PASS 0/1 19 None None None 0.26158 0.26160 0.14714 None None None None None None CD3EAP|0.001466541|92.96%

ZNF557
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs966591
dbSNP Clinvar 		7083629 1715432.93 A G PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.44569 0.44570 0.42598 None None None None None None ZNF557|0.001498664|92.79%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9653123
dbSNP Clinvar 		55054014 18018.44 G A PASS 1/1 2 None None None 0.14996 0.15000 None None None None None None KIR3DX1|0.000180892|99.81%
View 94533-0209701724_ms_onbait 19 rs9653103
dbSNP Clinvar 		34904539 128015.06 C G PASS 1/1 3 None None None 0.87460 0.87460 None None None None None None PDCD2L|0.116986639|47.95%
View 94533-0209701724_ms_onbait 19 rs9636197
dbSNP Clinvar 		11258123 105943.62 A G PASS 1/1 2 None None None 0.89756 0.89760 None None None None None None SPC24|0.019919442|74.22%
View 94533-0209701724_ms_onbait 19 rs9636153
dbSNP Clinvar 		55660537 5637934.89 T C PASS 1/1 115 None None None 0.81010 0.81010 None None None None None None TNNT1|0.135858719|44.99%
View 94533-0209701724_ms_onbait 19 rs9636145
dbSNP Clinvar 		53005407 19841.12 G A PASS 0/1 26 None None None 0.07089 0.07089 None None None None None None ZNF578|0.000673776|97.4%

ZNF614
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9636139
dbSNP Clinvar 		52521296 1286276.02 G A PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.54293 0.54290 0.41865 0.68 0.00 None None None None None None ZNF614|0.003283614|88.11%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs963352
dbSNP Clinvar 		54964019 246962.19 C T PASS 0/1 16 None None None 0.54413 0.54410 None None None None None None LENG8|0.0609729|59.6%
View 94533-0209701724_ms_onbait 19 rs962919
dbSNP Clinvar 		17301863 4516498.33 G A PASS 0/1 119 None None None 0.63598 0.63600 0.49560 None None None None None None MYO9B|0.037345575|66.66%
View 94533-0209701724_ms_onbait 19 rs962918
dbSNP Clinvar 		17302056 2367320.01 A G PASS 0/1 128 None None None 0.75359 0.75360 0.30454 None None None None None None MYO9B|0.037345575|66.66%

ZNF256
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs959231
dbSNP Clinvar 		58453342 2379981.18 T C PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.26677 0.26680 0.25496 None None None None None None ZNF256|0.000363545|99.18%

ZNF607
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs958305
dbSNP Clinvar 		38189440 7355693.03 T C PASS 0/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.58087 0.58090 0.26849 0.05 0.40 None None None None None None ZNF607|0.002324929|90.11%

ZNF283
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs957569
dbSNP Clinvar 		44351836 4900813.12 G A PASS 1/1 111 SYNONYMOUS_CODING LOW None 0.68231 0.68230 0.21024 None None None None None None ZNF283|0.014136174|77.77%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs956301652
dbSNP Clinvar 		50299165 151.65 C T PASS 0/1 9 None None None None None None None None None AP2A1|0.216585171|34.79%

ZNF180
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs954314
dbSNP Clinvar 		44981375 1269314.22 T C PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.16054 0.16050 0.28049 None None None None None None ZNF180|0.010965062|80.09%

WDR87
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs953370
dbSNP Clinvar 		38382328 2556664.53 C T PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.64617 0.64620 0.49474 None None None None None None WDR87|0.001537054|92.59%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs945828
dbSNP Clinvar 		5707204 2571032.57 T C PASS 0/1 51 None None None 0.78215 0.78210 0.22215 None None None None None None LONP1|0.337568028|24.99%
View 94533-0209701724_ms_onbait 19 rs941407
dbSNP Clinvar 		2812153 1430001.17 A G PASS 0/1 62 None None None 0.45667 0.45670 None None None None None None THOP1|0.184950551|38.36%
View 94533-0209701724_ms_onbait 19 rs940863905
dbSNP Clinvar 		37641928 7081.36 CT C PASS 0/1 10 None None None None None None None None None ZNF585A|0.004630211|86.29%

CAPN12
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs936524
dbSNP Clinvar 		39233146 1698790.28 A G PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.67113 0.67110 0.32277 None None None None None None CAPN12|0.032054241|68.58%

ZNF568
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs935707
dbSNP Clinvar 		37487723 2934422.17 G A PASS 0/1 63 None None None 0.49681 0.49680 0.66 0.00 None None None None None None ZNF568|0.003037748|88.58%
View 94533-0209701724_ms_onbait 19 rs935706
dbSNP Clinvar 		37487632 2761884.98 G A PASS 0/1 55 None None None 0.49661 0.49660 0.00 0.02 None None None None None None ZNF568|0.003037748|88.58%

CHAF1A
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9352
dbSNP Clinvar 		4442336 1327696.37 C T PASS 0/1 38 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.56789 0.56790 0.48109 0.05 0.07 None None None None None None CHAF1A|0.043730551|64.6%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs934832657
dbSNP Clinvar 		3772009 3126.27 CTG C PASS 0/1 16 None None None None None None None None None RAX2|0.00640035|84.16%

ARHGEF18
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9329368
dbSNP Clinvar 		7533850 3590728.87 A G PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.83427 0.83430 0.18783 1.00 0.00 None None None None None None ARHGEF18|0.021386843|73.49%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9305088
dbSNP Clinvar 		17298724 2044560.69 G C PASS 0/1 150 None None None 0.63918 0.63920 0.49264 None None None None None None MYO9B|0.037345575|66.66%

CALR3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9305079
dbSNP Clinvar 		16591464 3382398.68 G A PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.65056 0.65060 0.34607 None None None None None None CALR3|0.020967658|73.69%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9304996
dbSNP Clinvar 		22486535 3327673.23 A G PASS 0/1 189 None None None 0.72624 0.72620 None None None None None None ZNF729|0.000879851|96.15%
View 94533-0209701724_ms_onbait 19 rs9304929
dbSNP Clinvar 		6147743 3841119.59 G C PASS 0/1 48 None None None 0.73223 0.73220 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%
View 94533-0209701724_ms_onbait 19 rs9304927
dbSNP Clinvar 		6141809 117783.99 G A PASS 0/1 10 None None None 0.57009 0.57010 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%
View 94533-0209701724_ms_onbait 19 rs9304926
dbSNP Clinvar 		6141758 711114.7 G T PASS 0/1 18 None None None 0.62660 0.62660 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%
View 94533-0209701724_ms_onbait 19 rs9304921
dbSNP Clinvar 		5214533 6503784.03 A G PASS 1/1 70 None None None 0.79573 0.79570 0.20275 None None None None None None PTPRS|0.038665727|66.22%

PLIN3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9304915
dbSNP Clinvar 		4847874 2787815.43 A G PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.86582 0.86580 0.14709 None None None None None None PLIN3|0.015570736|76.73%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9304809
dbSNP Clinvar 		58514475 1248478.87 G T PASS 0/1 115 None None None 0.12240 0.12240 None None None None None None ZNF606|0.007782601|82.77%

CTD-2368P22.1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9304808
dbSNP Clinvar 		58514183 649454.41 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None None None None None None None ZNF606|0.007782601|82.77%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9304729
dbSNP Clinvar 		53005249 272695.74 A G PASS 0/1 71 None None None 0.06030 0.06030 None None None None None None ZNF578|0.000673776|97.4%
View 94533-0209701724_ms_onbait 19 rs9304688
dbSNP Clinvar 		49900877 1458906.88 A G PASS 1/1 51 None None None 0.57189 0.57190 0.42926 None None None None None None CCDC155|0.038242754|66.37%
View 94533-0209701724_ms_onbait 19 rs9304640
dbSNP Clinvar 		44721699 1097129.21 C T PASS 0/1 121 None None None 0.64697 0.64700 None None None None None None ZNF227|0.005958044|84.62%
View 94533-0209701724_ms_onbait 19 rs9304602
dbSNP Clinvar 		42804471 33470.25 G C PASS 0/1 89 None None None 0.01817 0.01817 0.01745 None None None None None None PAFAH1B3|0.279523854|29.13%
View 94533-0209701724_ms_onbait 19 rs9304596
dbSNP Clinvar 		42126339 138391.98 T C PASS 1/1 6 None None None 0.80691 0.80690 None None None None None None CEACAM4|0.00038728|99.02%
View 94533-0209701724_ms_onbait 19 rs930232
dbSNP Clinvar 		1036018 1242796.01 G A PASS 0/1 24 None None None 0.43670 0.43670 None None None None None None CNN2|0.028130209|70.37%
View 94533-0209701724_ms_onbait 19 rs930227
dbSNP Clinvar 		46498899 58167.53 C T PASS 0/1 4 None None None 0.41554 0.41550 None None None None None None CCDC61|0.034771259|67.54%
View 94533-0209701724_ms_onbait 19 rs930086
dbSNP Clinvar 		50771635 5268151.71 T C PASS 1/1 32 None None None 0.86462 0.86460 0.12474 None None None None None None MYH14|0.042775687|64.86%
View 94533-0209701724_ms_onbait 19 rs929807
dbSNP Clinvar 		7710040 987761.31 T C PASS 0/1 45 None None None 0.52696 0.52700 0.41943 None None None None None None STXBP2|0.060993304|59.59%
View 94533-0209701724_ms_onbait 19 rs929743
dbSNP Clinvar 		48949766 5831428.48 C G PASS 1/1 83 None None None 0.66354 0.66350 0.24166 None None None None None None GRWD1|0.143044926|43.98%
View 94533-0209701724_ms_onbait 19 rs924485
dbSNP Clinvar 		21560456 676081.41 G A PASS 1/1 10 None None None 0.89796 0.89800 None None None None None None ZNF738|0.001415309|93.26%
View 94533-0209701724_ms_onbait 19 rs921938
dbSNP Clinvar 		50982086 820762.22 C A PASS 1/1 14 None None None 0.79074 0.79070 None None None None None None EMC10|0.019082394|74.63%
View 94533-0209701724_ms_onbait 19 rs919798
dbSNP Clinvar 		4498154 885038.69 G A PASS 0/1 16 None None None 0.38938 0.38940 None None None None None None None
View 94533-0209701724_ms_onbait 19 rs919797
dbSNP Clinvar 		4498157 218324.22 G A PASS 0/1 15 None None None 0.38658 0.38660 None None None None None None None
View 94533-0209701724_ms_onbait 19 rs919781
dbSNP Clinvar 		38924814 91232.2 T C PASS 1/1 8 None None None 0.80691 0.80690 None None None None None None RYR1|0.508975831|15.43%
View 94533-0209701724_ms_onbait 19 rs919778
dbSNP Clinvar 		19772722 400731.52 G A PASS 0/1 26 None None None 0.17093 0.17090 None None None None None None ATP13A1|0.111550115|48.93%

ATP1A3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs919390
dbSNP Clinvar 		42471050 1591409.86 G C PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.71945 0.71940 0.28832 0.00 None None None None None None ATP1A3|0.149065263|43.12%

DKKL1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs919364
dbSNP Clinvar 		49867913 1064983.91 G A PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.25959 0.25960 0.31962 1.00 0.00 None None None None None None DKKL1|0.011993172|79.25%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs919307
dbSNP Clinvar 		41116251 181902.33 G C PASS 0/1 14 None None None 0.49101 0.49100 None None None None None None LTBP4|0.091127701|53.01%

CLPTM1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs9193
dbSNP Clinvar 		45496303 2732247.9 T C PASS 1/1 21 None None None 0.87260 0.87260 0.10868 0.00 0.00 None None None None None None CLPTM1|0.232022949|33.2%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs919265
dbSNP Clinvar 		17514440 333845.64 G C PASS 1/1 11 None None None 0.00040 0.87620 None None None None None None BST2|0.000364798|99.17%
View 94533-0209701724_ms_onbait 19 rs918542
dbSNP Clinvar 		10071634 203218.73 T C PASS 0/1 27 None None None 0.67832 0.67830 None None None None None None COL5A3|0.039580114|65.88%

MUC16
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs918535
dbSNP Clinvar 		9056930 2629287.76 T G PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.24321 0.24320 0.30999 None None None None None None MUC16|0.001379523|93.47%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs918164
dbSNP Clinvar 		46258024 1970868.68 A G PASS 1/1 12 None None None None None None None None None None
View 94533-0209701724_ms_onbait 19 rs917652
dbSNP Clinvar 		56934111 80873.65 A G PASS 1/1 5 None None None 0.64916 0.64920 None None None None None None ZNF583|0.001129298|94.79%
View 94533-0209701724_ms_onbait 19 rs916791
dbSNP Clinvar 		18724157 14164.01 G A PASS 1/1 4 None None None 0.46066 0.46070 None None None None None None TMEM59L|0.018167734|75.19%
View 94533-0209701724_ms_onbait 19 rs916147
dbSNP Clinvar 		35757250 1370710.22 G A PASS 0/1 68 None None None 0.23842 0.23840 0.33500 None None None None None None LSR|0.042036693|65.11%

XRCC1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs915927
dbSNP Clinvar 		44057227 1218858.92 T C PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.32129 0.32130 0.42032 None None None None None None XRCC1|0.147793973|43.33%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs915915
dbSNP Clinvar 		46274972 4243664.84 A C PASS 1/1 47 None None None 0.57608 0.57610 0.47824 None None None None None None DMPK|0.106803159|49.83%
View 94533-0209701724_ms_onbait 19 rs914217826
dbSNP Clinvar 		48537819 192.58 A T PASS 0/1 10 None None None None None None None None None CABP5|0.074903985|56.31%
View 94533-0209701724_ms_onbait 19 rs911384556
dbSNP Clinvar 		35433347 5995.12 CA C PASS 0/1 7 None None None None None None None None None ZNF30|0.001463415|92.98%

DMKN
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs909072
dbSNP Clinvar 		35991442 3038838.77 T G PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.99840 0.99840 0.00584 1.00 0.00 None None None None None None DMKN|0.003521347|87.74%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs909010
dbSNP Clinvar 		49691822 1766877.21 T C PASS 0/1 59 None None None None None None None None None TRPM4|0.032654157|68.31%
View 94533-0209701724_ms_onbait 19 rs908668
dbSNP Clinvar 		56134038 455011.95 C T PASS 0/1 47 None None None 0.21006 0.21010 0.17495 None None None None None None ZNF784|0.012627322|78.79%