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Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC024592.12, ACP5, ACPT, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADCK4, AKAP8L, ALDH16A1, AMH, ANGPTL4, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP3D1, APBA3, APC2, APLP1, APOE, ARHGAP33, ARHGEF18, ARID3A, ARRDC5, ASPDH, ATF5, ATP1A3, ATP4A, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BCAT2, BCKDHA, BIRC8, BRSK1, BTBD2, C19orf10, C19orf12, C19orf24, C19orf26, C19orf40, C19orf44, C19orf45, C19orf48, C19orf53, C19orf54, C19orf55, C19orf57, C19orf71, C19orf73, C2CD4C, C3, C5AR1, CABP5, CACNA1A, CACTIN, CALR3, CAPN12, CAPS, CARD8, CATSPERD, CATSPERG, CBLC, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC124, CCDC61, CCDC8, CCDC9, CCDC94, CCL25, CCNE1, CD177, CD209, CD320, CD33, CD37, CDKN2D, CEACAM1, CEACAM18, CEACAM21, CEACAM5, CEACAM6, CEACAM8, CEBPA, CEP89, CERS4, CGB, CGB2, CGB5, CGB8, CHAF1A, CHERP, CHST8, CIB3, CIRBP, CKM, CLASRP, CLDND2, CLEC17A, CLEC4G, CLEC4M, CLPTM1, CNN2, CNOT3, COL5A3, COLGALT1, COPE, CPAMD8, CRB3, CTB-102L5.4, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, DENND1C, DKFZP761J1410, DMKN, DMRTC2, DMWD, DNAAF3, DNAJB1, DNASE2, DNM2, DNMT1, DOCK6, DOT1L, DPF1, DPY19L3, DUS3L, EBI3, ECH1, EEF2, EHD2, EIF3G, ELSPBP1, EML2, EMR1, EMR2, EMR3, EPN1, EPS8L1, ERCC1, ETFB, EVI5L, EXOSC5, F2RL3, FAM129C, FAM187B, FAM71E2, FAM83E, FBN3, FBXL12, FBXO17, FCAR, FCER2, FCGBP, FCHO1, FDX1L, FFAR1, FFAR3, FIZ1, FLT3LG, FOXA3, FPR1, FPR3, FSTL3, FTL, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD3, GALP, GCDH, GDF15, GGN, GIPC1, GLTSCR1, GLTSCR2, GNA11, GNA15, GNG8, GP6, GPATCH1, GPR108, GPX4, GRAMD1A, GRIN3B, GRWD1, GSK3A, GTPBP3, GYS1, GZMM, HAUS8, HCN2, HCST, HDGFRP2, HIF3A, HIPK4, HMHA1, HNRNPM, HNRNPUL1, HOMER3, HSD17B14, HSH2D, HSPBP1, ICAM3, IFI30, IL11, IL27RA, IL4I1, ILF3, ILVBL, INSL3, INSR, IRGQ, JSRP1, KANK3, KCNA7, KCNK6, KCTD15, KDM4B, KEAP1, KHSRP, KIAA0355, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIRREL2, KISS1R, KLF1, KLF16, KLHL26, KLK1, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KMT2B, KPTN, KRI1, LAIR1, LAIR2, LDLR, LENG8, LENG9, LGI4, LHB, LIG1, LILRA1, LILRA2, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LMNB2, LMTK3, LONP1, LPAR2, LPPR3, LRFN3, LRP3, LRRC25, LRRC4B, LRRC8E, LSR, LTBP4, LYPD4, LYPD5, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP3K10, MARCH2, MARK4, MAST1, MAST3, MATK, MAU2, MBD3L1, MBD3L2, MBD3L4, MBD3L5, MBOAT7, MCOLN1, MEGF8, MIDN, MOB3A, MPND, MRPL4, MRPL54, MUC16, MUM1, MVB12A, MYBPC2, MYH14, MYO9B, MYPOP, NACC1, NANOS3, NAPSA, NCLN, NCR1, NDUFB7, NDUFS7, NFIC, NFKBID, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOTCH3, NPAS1, NPHS1, NR1H2, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, ODF3L2, OLFM2, OR10H1, OR10H2, OR10H3, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OR7G3, OSCAR, PALM, PAPL, PDE4C, PEG3, PEPD, PEX11G, PGLS, PIAS4, PIH1D1, PIK3R2, PIP5K1C, PKN1, PLA2G4C, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, PNPLA6, POLD1, POLR2E, POLRMT, PPAP2C, PPP1R12C, PPP1R15A, PPP2R1A, PRAM1, PRKCG, PRKD2, PRR12, PRR22, PRR24, PRSS57, PRX, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PTGER1, PTPRH, PTPRS, PVR, PVRL2, QPCTL, RAB3A, RAB8A, RASGRP4, RASIP1, RAVER1, RDH13, REXO1, RFPL4A, RFX1, RFX2, RGL3, RGS9BP, RHPN2, RNF126, RPS15, RPSAP58, RUVBL2, RYR1, S1PR2, S1PR5, SAE1, SAFB2, SBK2, SBNO2, SCAF1, SCN1B, SDHAF1, SEMA6B, SGTA, SH3GL1, SHANK1, SHC2, SHD, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC1A6, SLC35E1, SLC39A3, SLC44A2, SLC7A9, SMARCA4, SNAPC2, SPIB, SPINT2, SPTBN4, SSC5D, STAP2, STK11, STRN4, STXBP2, SUGP2, SULT2A1, SULT2B1, SYMPK, SYNE4, SYT3, TARM1, TBC1D17, TBXA2R, TCF3, TECR, TEX101, TGFB1, THEG, TICAM1, TJP3, TLE2, TLE6, TMC4, TMEM143, TMEM145, TMEM150B, TMEM161A, TMEM259, TMEM38A, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNT1, TOMM40, TRAPPC5, TRAPPC6A, TRMT1, TSEN34, TSHZ3, TSKS, TTYH1, TUBB4A, TULP2, TYK2, U2AF2, UBA2, UBE2S, UBXN6, UNC13A, UQCRFS1, URI1, USE1, USHBP1, USP29, VAV1, VN1R1, VN1R4, VRK3, VSIG10L, VSTM1, WDR18, WDR62, WDR83, WDR87, WDR88, WTIP, XAB2, XRCC1, YIF1B, ZC3H4, ZFP28, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF101, ZNF112, ZNF132, ZNF135, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF180, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF229, ZNF233, ZNF234, ZNF235, ZNF256, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF317, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF358, ZNF382, ZNF404, ZNF414, ZNF415, ZNF417, ZNF418, ZNF419, ZNF426, ZNF429, ZNF432, ZNF44, ZNF440, ZNF441, ZNF443, ZNF446, ZNF45, ZNF470, ZNF471, ZNF480, ZNF490, ZNF492, ZNF497, ZNF507, ZNF524, ZNF525, ZNF527, ZNF529, ZNF530, ZNF534, ZNF543, ZNF544, ZNF548, ZNF549, ZNF550, ZNF552, ZNF554, ZNF555, ZNF557, ZNF561, ZNF565, ZNF566, ZNF567, ZNF57, ZNF573, ZNF577, ZNF578, ZNF579, ZNF583, ZNF585A, ZNF587, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF625, ZNF628, ZNF653, ZNF665, ZNF667, ZNF675, ZNF676, ZNF681, ZNF69, ZNF699, ZNF700, ZNF701, ZNF708, ZNF709, ZNF714, ZNF737, ZNF738, ZNF749, ZNF763, ZNF765, ZNF77, ZNF772, ZNF787, ZNF788, ZNF792, ZNF799, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF83, ZNF836, ZNF837, ZNF841, ZNF844, ZNF846, ZNF880, ZNF90, ZNF91, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN5A, ZSCAN5B,

+ Genes associated with diseases 120

Genes at Omim

ABCA7, ACP5, ACPT, ACTN4, ADAMTS10, ADAT3, AMH, ANGPTL4, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, AURKC, B9D2, BCAT2, BCKDHA, C19orf12, C3, CACNA1A, CC2D1A, CCDC114, CCDC8, CD209, CD320, CEBPA, CHST8, CLEC4M, COLGALT1, CPAMD8, CYP2A6, CYP2B6, CYP4F22, DNAAF3, DNM2, DNMT1, DOCK6, EEF2, ERCC1, ETFB, FDX1L, FTL, FUT2, FUT3, FUT6, FUZ, GCDH, GNA11, GP6, GPX4, GTPBP3, GYS1, INSL3, INSR, KIR3DL1, KISS1R, KLF1, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LMNB2, LONP1, LTBP4, MAN2B1, MAP2K2, MAST1, MBOAT7, MCOLN1, MEGF8, MYH14, MYO9B, NACC1, NDUFS7, NLRP12, NOTCH3, NPHS1, NTF4, NUP62, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PPP2R1A, PRKCG, PRX, RGS9BP, RYR1, S1PR2, SCN1B, SDHAF1, SH3GL1, SIPA1L3, SIX5, SLC7A9, SMARCA4, SPINT2, SPTBN4, STK11, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TECR, TGFB1, TICAM1, TLE6, TNNT1, TRMT1, TSEN34, TUBB4A, TYK2, WDR62, XRCC1,

ABCA7	{Alzheimer disease 9, susceptibility to}, 608907 (3)
ACP5	Spondyloenchondrodysplasia with immune dysregulation, 607944 (3)
ACPT	Amelogenesis imperfecta, type IJ, 617297 (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)
ANGPTL4	Plasma triglyceride level QTL, low, 615881 (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)
BCAT2	?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA	Maple syrup urine disease, type Ia, 248600 (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)
CC2D1A	Mental retardation, autosomal recessive 3, 608443 (3)
CCDC114	Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC8	3-M syndrome 3, 614205 (3)
CD209	{HIV type 1, susceptibility to}, 609423 (3) {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) {Dengue fever, protection against}, 614371 (3)
CD320	Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3)
CEBPA	Leukemia, acute myeloid, somatic, 601626 (3) ?Leukemia, acute myeloid, 601626 (3)
CHST8	?Peeling skin syndrome 3, 616265 (3)
CLEC4M	SARS infection, protection against (2)
COLGALT1	Brain small vessel disease 3, 618360 (3)
CPAMD8	Anterior segment dysgenesis 8, 617319 (3)
CYP2A6	{Lung cancer, resistance to}, 211980 (3) Coumarin resistance, 122700 (3) {Nicotine addiction, protection from}, 188890 (3)
CYP2B6	Efavirenz, poor metabolism of, 614546 (3) {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP4F22	Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
DNAAF3	Ciliary dyskinesia, primary, 2, 606763 (3)
DNM2	Centronuclear myopathy 1, 160150 (3) Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3) Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3) Lethal congenital contracture syndrome 5, 615368 (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)
ETFB	Glutaric acidemia IIB, 231680 (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)
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)
GTPBP3	Combined oxidative phosphorylation deficiency 23, 616198 (3)
GYS1	Glycogen storage disease 0, muscle, 611556 (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)
KIR3DL1	{AIDS, delayed/rapid progression to}, 609423 (3)
KISS1R	Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3) ?Precocious puberty, central, 1, 176400 (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)
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)
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)
NACC1	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (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)
NPHS1	Nephrotic syndrome, type 1, 256300 (3)
NTF4	Glaucoma 1, open angle, 1O, 613100 (3)
NUP62	Striatonigral degeneration, infantile, 271930 (3)
PEPD	Prolidase deficiency, 170100 (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)
PPP2R1A	Mental retardation, autosomal dominant 36, 616362 (3)
PRKCG	Spinocerebellar ataxia 14, 605361 (3)
PRX	Charcot-Marie-Tooth disease, type 4F, 614895 (3) Dejerine-Sottas disease, 145900 (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)
SCN1B	Atrial fibrillation, familial, 13, 615377 (3) Brugada syndrome 5, 612838 (3) Cardiac conduction defect, nonspecific, 612838 (3) Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3) Epileptic encephalopathy, early infantile, 52, 617350 (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)
SPINT2	Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)
SPTBN4	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
STK11	Melanoma, malignant, somatic (3) Pancreatic cancer, somatic, 260350 (3) Peutz-Jeghers syndrome, 175200 (3) Testicular tumor, somatic, 273300 (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)
TECR	Mental retardation, autosomal recessive 14, 614020 (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)
TLE6	Preimplantation embryonic lethality, 616814 (3)
TNNT1	Nemaline myopathy 5, Amish type, 605355 (3)
TRMT1	Mental retardation, autosomal recessive 68, 618302 (3)
TSEN34	?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A	Leukodystrophy, hypomyelinating, 6, 612438 (3) Dystonia 4, torsion, autosomal dominant, 128101 (3)
TYK2	Immunodeficiency 35, 611521 (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

ACP5, ACTN4, ADAMTS10, ADCK4, AMH, APOE, ATP1A3, AURKC, B9D2, BCKDHA, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CCDC8, CD320, CEBPA, CHST8, CYP2A6, CYP2B6, CYP4F2, CYP4F22, DNM2, DNMT1, DOCK6, ERCC1, ETFB, FTL, FUT3, FUT6, FUZ, GCDH, GNA11, GP6, GPX4, GTPBP3, GYS1, INSL3, INSR, KISS1R, KLF1, KLK4, KPTN, LDLR, LHB, LMNB2, LONP1, LTBP4, MAN2B1, MAP2K2, MCOLN1, MEGF8, MYH14, NDUFS7, NLRP12, NLRP7, NOTCH3, NPHS1, NTF4, NUP62, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PPP2R1A, PRKCG, PRX, RGS9BP, RYR1, S1PR2, SCN1B, SDHAF1, SIPA1L3, SIX5, SLC7A9, SMARCA4, SPINT2, STK11, STXBP2, SYNE4, TBXA2R, TCF3, TECR, TGFB1, TICAM1, TLE6, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, ZIM2, ZNF480, ZNF565,

ACP5	Spondyloenchondrodysplasia with immune dysregulation
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
BCKDHA	Maple syrup urine disease, type Ia
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
CCDC8	Three M syndrome 3
CD320	Methylmalonic aciduria due to transcobalamin receptor defect
CEBPA	Acute myeloid leukemia, familial
CHST8	Peeling skin syndrome 3
CYP2A6	CYP2A6-related drug metabolism
CYP2B6	Efavirenz, poor metabolism of
CYP4F2	Warfarin metabolism
CYP4F22	Ichthyosis, congenital, autosomal recessive 5
DNM2	Charcot-Marie-Tooth disease, dominant intermediate B Charcot-Marie-Tooth disease, axonal, type 2M Myopathy, centronuclear Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
DNMT1	Neuropathy, hereditary sensory, type IE Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DOCK6	Adams-Oliver syndrome 2
ERCC1	Cerebrooculofacioskeletal syndrome 4
ETFB	Multiple acyl-CoA dehydrogenase deficiency Glutaric aciduria II
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
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
GYS1	Glycogen storage disease, type 0, muscle
INSL3	Cryptorchidism
INSR	Hyperinsulinemic hypoglycemia, familial, 5 Rabson-Mendenhall syndrome Donohoe syndrome
KISS1R	Hypogonadotropic hypogonadism 8 with or without anosmia
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
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
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
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)
NPHS1	Nephrotic syndrome, type 1
NTF4	Glaucoma 1, open angle, O
NUP62	Striatonigral degeneration, infantile
PEPD	Prolidase deficiency
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
PPP2R1A	Mental retardation, autosomal dominant 36
PRKCG	Spinocerebellar ataxia 14
PRX	Dejerine-Sottas disease Charcot-Marie-Tooth disease, type 4F
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
SCN1B	Atrial fibrillation, familial 13 Brugada syndrome 5
SDHAF1	Mitochondrial complex II deficiency
SIPA1L3	Cataract 45
SIX5	Branchiootorenal syndrome 2
SLC7A9	Cystinuria
SMARCA4	Rhabdoid tumor predisposition syndrome 2
SPINT2	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies
STK11	Peutz-Jeghers syndrome
STXBP2	Hemophagocytic lymphohistiocytosis, familial 5
SYNE4	Deafness, autosomal recessive, 76
TBXA2R	Bleeding disorder, platelet-type 13, susceptibility to
TCF3	Agammaglobulinemia 8, autosomal dominant
TECR	Mental retardation, autosomal recessive 14
TGFB1	Camurati-Engelmann disease
TICAM1	Herpes simplex encephalitis, susceptibility to, 4
TLE6	Preimplantation embryonic lethality
TNNT1	Nemaline myopathy 5
TSEN34	Pontocerebellar hypoplasia type 2C
TUBB4A	Dystonia 4, torsion, autosomal dominant Leukodystrophy, hypomyelinating, 6
TYK2	Immunodeficiency 35
WDR62	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2	Schizophrenia
ZNF480	Schizophrenia
ZNF565	Schizophrenia

Genes at HGMD

Summary

Number of Variants: 3700
Number of Genes: 718

Export to: CSV

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CD33
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs35112940 dbSNP Clinvar	51738917	1484.13	G	A	.	0/1	125	NON_SYNONYMOUS_CODING	MODERATE	None	0.07129	0.07129	0.14939	0.23	0.01		None None	None None None None	CD33\|0.000465895\|98.6%
ADCK4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs3865452 dbSNP Clinvar	41211056	1484.13	T	C	.	0/1	145	NON_SYNONYMOUS_CODING	MODERATE	None	0.47744	0.47740	0.45248	0.53	0.00		None None	None None None None	ADCK4\|0.043749388\|64.59%
GP6
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs1654416 dbSNP Clinvar	55530035	1484.13	C	T	.	0/1	93	NON_SYNONYMOUS_CODING	MODERATE	None	0.74361	0.74360	0.23382	1.00	0.01		None None	None None None None	GP6\|0.001463632\|92.98%
	View	grc14378018_exome	19	rs1613662 dbSNP Clinvar	55536595	1484.13	G	A	.	0/1	131	NON_SYNONYMOUS_CODING	MODERATE	None	0.84265	0.84270	0.17496	0.40	0.00		None None	None None None None	GP6\|0.001463632\|92.98%
	View	grc14378018_exome	19	rs1654425 dbSNP Clinvar	55538980	17.9224	T	C	.	0/1	10	SYNONYMOUS_CODING	LOW	None	0.90715	0.90710	0.11990				None None	None None None None	GP6\|0.001463632\|92.98%
	View	grc14378018_exome	19	rs892089 dbSNP Clinvar	55539061	37.8914	A	G,T	.	0/1	22	NON_SYNONYMOUS_CODING	MODERATE	None	0.73243	0.73240	0.24976	0.01	0.92		None None	None None None None	GP6\|0.001463632\|92.98%
	View	grc14378018_exome	19	rs892090 dbSNP Clinvar	55539072	30.6641	T	G	.	0/1	23	SYNONYMOUS_CODING	LOW	None	0.84265	0.84270	0.18208				None None	None None None None	GP6\|0.001463632\|92.98%
TNNT1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs890868 dbSNP Clinvar	55644325	1484.13	A	C	.	1/1	31	SYNONYMOUS_CODING	LOW	None	0.98043	0.98040	0.00015				None None	None None None None	TNNT1\|0.135858719\|44.99%
FAM71E2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs12976922 dbSNP Clinvar	55870351	1484.13	T	C	.	0/1	126	NON_SYNONYMOUS_CODING	MODERATE	None	0.87560	0.87560	0.13688	0.10	0.00		None None	None None None None	FAM71E2\|0.000423071\|98.82%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs982058479 dbSNP Clinvar	51869659	14.0181	G	C	.	0/1	10	None	None	None							None None	None None None None	ETFB\|0.136969237\|44.88%
	View	grc14378018_exome	19	.	51869661	13.9933	G	C	.	0/1	10	None	None	None							None None	None None None None	ETFB\|0.136969237\|44.88%
SIGLEC10
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs61741679 dbSNP Clinvar	51920619	1484.13	G	C	.	0/1	100	SYNONYMOUS_CODING	LOW	None	0.08586	0.08586	0.06643				None None	None None None None	SIGLEC10\|0.000531451\|98.27%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs753493063 dbSNP Clinvar	39221476	15.2712	C	T	.	0/1	7	None	None	None							None None	None None None None	ACTN4\|0.387377198\|21.58%,CAPN12\|0.032054241\|68.58%
	View	grc14378018_exome	19	rs4803932 dbSNP Clinvar	46846078	1484.13	A	G	.	1/1	32	None	None	None	0.96665	0.96670				3.71	0.04 0.57824 D	None None None None	HIF3A\|0.050459352\|62.51%
SLC1A5
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs3027961 dbSNP Clinvar	47278859	785.653	C	G	.	0/1	33	NON_SYNONYMOUS_CODING	MODERATE	None	0.13179	0.13180	0.23243	0.65	0.00		None None	None None None None	FKRP\|0.059076183\|60.13%,SLC1A5\|0.021096068\|73.63%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs200059426 dbSNP Clinvar	47333840	27.4001	TTA	T	.	0/1	27	None	None	None							None None	None None None None	None
	View	grc14378018_exome	19	.	47333844	21.47	T	A	.	0/1	26	None	None	None							None None	None None None None	None
	View	grc14378018_exome	19	.	47922766	22.8959	T	G	.	1/1	8	None	None	None							None None	None None None None	MEIS3\|0.01854645\|74.94%
	View	grc14378018_exome	19	.	47922769	25.7249	C	A	.	1/1	10	None	None	None							None None	None None None None	MEIS3\|0.01854645\|74.94%
	View	grc14378018_exome	19	.	47922771	40.6415	G	C	.	1/1	9	None	None	None							None None	None None None None	MEIS3\|0.01854645\|74.94%
	View	grc14378018_exome	19	.	47922773	40.7699	T	G	.	1/1	9	None	None	None							None None	None None None None	MEIS3\|0.01854645\|74.94%
	View	grc14378018_exome	19	.	47922775	40.7293	C	T	.	1/1	9	None	None	None							None None	None None None None	MEIS3\|0.01854645\|74.94%
	View	grc14378018_exome	19	.	47922776	39.6726	C	T	.	1/1	9	None	None	None							None None	None None None None	MEIS3\|0.01854645\|74.94%
	View	grc14378018_exome	19	rs903573995 dbSNP Clinvar	47922777	40.7395	G	C	.	1/1	9	None	None	None							None None	None None None None	MEIS3\|0.01854645\|74.94%
	View	grc14378018_exome	19	.	47922778	40.6616	G	T	.	1/1	9	None	None	None							None None	None None None None	MEIS3\|0.01854645\|74.94%
	View	grc14378018_exome	19	.	47922779	40.7699	T	C	.	1/1	9	None	None	None							None None	None None None None	MEIS3\|0.01854645\|74.94%
	View	grc14378018_exome	19	.	47922781	40.689	T	G	.	1/1	9	None	None	None							None None	None None None None	None
	View	grc14378018_exome	19	.	47922783	40.1518	T	C	.	1/1	9	None	None	None							None None	None None None None	None
	View	grc14378018_exome	19	rs3835132,rs879099764,rs67312116 dbSNP Clinvar	54378453	166.316	CG...	C	.	1/1	16	None	None	None							None None	None None None None	MYADM\|0.006940461\|83.56%
VSTM1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs2433724 dbSNP Clinvar	54545531	1484.13	T	C,A	.	1/1	238	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.32408	0.32410	0.42096	1.00	0.00		None None	None None None None	VSTM1\|0.000623601\|97.75%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs201347231 dbSNP Clinvar	49547143	1484.13	G	A,T	.	0/1	357	START_GAINED	LOW	None							None None	None None None None	CGB1\|0.00401329\|87.01%,CGB5\|0.009664781\|81.1%
KCNA7
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs1017219 dbSNP Clinvar	49573438	1484.13	A	G,T	.	0/1	171	NON_SYNONYMOUS_CODING	MODERATE	None	0.36601	0.36600	0.38528	0.86	0.00		None None	None None None None	KCNA7\|0.090421752\|53.13%
SIGLEC5
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs3829655 dbSNP Clinvar	52115645	1484.13	G	C	.	0/1	53	NON_SYNONYMOUS_CODING	MODERATE	None	0.43530	0.43530	0.39797	0.02	0.37	0.81	0.00 0.00432 T	None None None None	SIGLEC5\|0.000613659\|97.84%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs571304371 dbSNP Clinvar	47922785	40.7648	C	T	.	1/1	9	None	None	None	0.99381	0.99380					None None	None None None None	None
ZNF808
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	.	53058058	1484.13	C	T	.	0/1	61	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.80		None None	None None None None	ZNF808\|0.000610214\|97.88%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs3926 dbSNP Clinvar	30192738	28.5591	C	T	.	1/1	7	None	None	None	0.61861	0.61860					None None	None None None None	C19orf12\|0.015097362\|77.08%
SLC7A9
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs12150889 dbSNP Clinvar	33355055	1484.13	A	G	.	0/1	114	NON_SYNONYMOUS_CODING	MODERATE	None	0.30611	0.30610	0.35714	0.19	0.00		None None	None None None None	SLC7A9\|0.055622359\|61.03%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs3556 dbSNP Clinvar	33878039	1484.13	A	G	.	0/1	49	None	None	None	0.28135	0.28130					None None	None None None None	PEPD\|0.402462965\|20.61%
	View	grc14378018_exome	19	rs73924681 dbSNP Clinvar	20722726	1484.13	C	T	.	0/1	89	None	None	None	0.10703	0.10700					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs73924682 dbSNP Clinvar	20722743	1484.13	T	A	.	0/1	64	None	None	None	0.10883	0.10880					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs190749471 dbSNP Clinvar	20722780	21.8121	A	T	.	0/1	38	None	None	None	0.00839	0.00839					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs79941077 dbSNP Clinvar	20723540	65.1134	G	A	.	0/1	19	None	None	None	0.02556	0.02556					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	.	20723566	23.5007	GA	G,...	.	0/1	54	None	None	None							None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs115371910 dbSNP Clinvar	20723645	1484.13	T	A,G	.	0/1	94	None	None	None	0.01937	0.01937					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs367818120,rs368165063 dbSNP Clinvar	20723670	1484.13	CTA	C,CTT	.	0/1	114	None	None	None	0.00899	0.00899					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs34579625,rs55934970 dbSNP Clinvar	20723794	1484.13	A	AT	.	0/1	84	None	None	None	0.53055	0.53060					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs33934 dbSNP Clinvar	20723943	1484.13	G	C	.	0/1	88	None	None	None	0.06190	0.06190					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs73924684 dbSNP Clinvar	20724776	19.9335	A	G	.	1/1	10	None	None	None	0.02536	0.02536					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs33932 dbSNP Clinvar	20724818	124.147	A	G	.	1/1	15	None	None	None	0.08726	0.08726					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs33931 dbSNP Clinvar	20725093	58.9202	C	G	.	1/1	11	None	None	None	0.64237	0.64240					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs143370381,rs367622249 dbSNP Clinvar	20725774	46.931	TT...	T	.	0/1	18	None	None	None	0.02536	0.02536					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs10410284 dbSNP Clinvar	20725833	17.5458	T	A	.	0/1	8	None	None	None	0.02536	0.02536					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs146092302 dbSNP Clinvar	20726010	1484.13	G	GA	.	0/1	40	None	None	None	0.10923	0.10920					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs57449077 dbSNP Clinvar	20726011	1369.81	G	A	.	0/1	40	None	None	None	0.10943	0.10940					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs181659855 dbSNP Clinvar	20726443	1484.13	G	A	.	0/1	40	None	None	None	0.00839	0.00839					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs377259342 dbSNP Clinvar	20726934	17.636	CA	C	.	0/1	8	None	None	None							None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs138007347 dbSNP Clinvar	20727046	792.545	G	A	.	0/1	33	None	None	None	0.00938	0.00939					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs33928 dbSNP Clinvar	20727133	1484.13	G	C	.	1/1	87	None	None	None	0.77496	0.77500					None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs33927 dbSNP Clinvar	20727211	1484.13	C	T	.	0/1	105	None	None	None	0.11442	0.11440					None None	None None None None	ZNF737\|0.001725803\|91.77%
ZNF737
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs146779645 dbSNP Clinvar	20727659	1484.13	C	T	.	0/1	167	SYNONYMOUS_CODING	LOW	None	0.02536	0.02536	0.02190				None None	None None None None	ZNF737\|0.001725803\|91.77%
	View	grc14378018_exome	19	rs33926 dbSNP Clinvar	20727932	1484.13	G	A	.	1/1	205	SYNONYMOUS_CODING	LOW	None	0.55771	0.55770	0.49343				None None	None None None None	ZNF737\|0.001725803\|91.77%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs77355912 dbSNP Clinvar	20804952	133.058	G	A	.	0/1	21	None	None	None	0.08486	0.08486					None None	None None None None	ZNF626\|0.001400717\|93.33%
ZNF737
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs61742876 dbSNP Clinvar	20728770	1484.13	T	C	.	0/1	54	NON_SYNONYMOUS_CODING	MODERATE	None	0.00839	0.00839	0.00723	0.03	0.83		None None	None None None None	ZNF737\|0.001725803\|91.77%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs113656649 dbSNP Clinvar	20803036	1484.13	C	T	.	0/1	58	None	None	None	0.08486	0.08486					None None	None None None None	ZNF626\|0.001400717\|93.33%
	View	grc14378018_exome	19	rs1366647 dbSNP Clinvar	20803155	1484.13	C	T	.	1/1	131	None	None	None	1.00000	1.00000					None None	None None None None	ZNF626\|0.001400717\|93.33%
	View	grc14378018_exome	19	rs113267605 dbSNP Clinvar	20804498	171.978	A	G	.	0/1	40	None	None	None	0.08486	0.08486					None None	None None None None	ZNF626\|0.001400717\|93.33%
	View	grc14378018_exome	19	rs113761621 dbSNP Clinvar	20804772	16.4375	C	T	.	0/1	13	None	None	None	0.08486	0.08486					None None	None None None None	ZNF626\|0.001400717\|93.33%
	View	grc14378018_exome	19	rs112700497 dbSNP Clinvar	20807053	1484.13	T	G	.	0/1	38	None	None	None	0.08486	0.08486	0.08123				None None	None None None None	ZNF626\|0.001400717\|93.33%
	View	grc14378018_exome	19	rs3217340,rs71174729 dbSNP Clinvar	20844340	1484.13	G	GA...	.	1/1	77	None	None	None	0.77556	0.77560	0.19351				None None	None None None None	ZNF626\|0.001400717\|93.33%
	View	grc14378018_exome	19	rs35802891,rs74192363 dbSNP Clinvar	21133283	1484.13	TTAAA	T	.	0/1	98	None	None	None	0.11661	0.11660					None None	None None None None	ZNF85\|0.001076203\|95.02%
	View	grc14378018_exome	19	rs2081054 dbSNP Clinvar	21203552	1484.13	C	T	.	1/1	98	START_GAINED	LOW	None	0.91893	0.91890	0.05497				None None	None None None None	ZNF430\|0.001266666\|94.07%
	View	grc14378018_exome	19	rs10409844 dbSNP Clinvar	21241537	1484.13	T	A	.	1/1	161	None	None	None	0.67412	0.67410					None None	None None None None	ZNF430\|0.001266666\|94.07%
ZNF714
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs36125838,rs57999210 dbSNP Clinvar	21299774	1484.13	T	TATA	.	1/1	74	CODON_INSERTION	MODERATE	None	0.84145	0.84150	0.14029				None None	None None None None	ZNF714\|0.001187991\|94.48%
	View	grc14378018_exome	19	rs2884554 dbSNP Clinvar	21300462	1484.13	A	G,T	.	1/1	137	NON_SYNONYMOUS_CODING	MODERATE	None	0.66953	0.66950	0.32263	0.06	0.01		None None	None None None None	ZNF714\|0.001187991\|94.48%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs7253950 dbSNP Clinvar	21302906	70.9575	A	G	.	1/1	12	None	None	None	0.78514	0.78510					None None	None None None None	ZNF714\|0.001187991\|94.48%
	View	grc14378018_exome	19	rs7254302 dbSNP Clinvar	21302948	14.9768	G	A	.	0/1	6	None	None	None	0.50839	0.50840					None None	None None None None	ZNF714\|0.001187991\|94.48%
	View	grc14378018_exome	19	rs35730141 dbSNP Clinvar	30190828	1484.13	G	GA	.	1/1	37	None	None	None	0.26318	0.26320					None None	None None None None	None
	View	grc14378018_exome	19	rs71176815 dbSNP Clinvar	21303346	617.824	T	TATA	.	1/1	21	None	None	None	0.78035	0.78040					None None	None None None None	ZNF714\|0.001187991\|94.48%
	View	grc14378018_exome	19	rs11412088 dbSNP Clinvar	21303570	594.333	A	AT	.	1/1	34	None	None	None							None None	None None None None	ZNF714\|0.001187991\|94.48%
	View	grc14378018_exome	19	rs8111827 dbSNP Clinvar	21303743	17.2475	G	A	.	1/1	4	None	None	None	0.78974	0.78970					None None	None None None None	ZNF714\|0.001187991\|94.48%
	View	grc14378018_exome	19	rs10405406 dbSNP Clinvar	21305337	58.9202	A	G	.	1/1	11	None	None	None	0.78075	0.78080					None None	None None None None	ZNF714\|0.001187991\|94.48%
	View	grc14378018_exome	19	rs9304982 dbSNP Clinvar	21305560	1484.13	G	A	.	1/1	68	None	None	None	0.78994	0.78990					None None	None None None None	ZNF714\|0.001187991\|94.48%
	View	grc14378018_exome	19	rs10413226 dbSNP Clinvar	21306251	20.3329	G	A	.	1/1	5	None	None	None	0.66933	0.66930					None None	None None None None	ZNF714\|0.001187991\|94.48%
	View	grc14378018_exome	19	rs11085431 dbSNP Clinvar	21306913	1484.13	T	C	.	1/1	29	None	None	None	0.72824	0.72820					None None	None None None None	ZNF714\|0.001187991\|94.48%
	View	grc14378018_exome	19	rs10423541 dbSNP Clinvar	21307318	1484.13	G	C	.	1/1	116	None	None	None	0.78075	0.78080					None None	None None None None	ZNF714\|0.001187991\|94.48%
	View	grc14378018_exome	19	rs11411736,rs397797325 dbSNP Clinvar	21367562	1484.13	A	AC	.	1/1	82	None	None	None	1.00000	1.00000					None None	None None None None	ZNF431\|0.001324122\|93.74%
	View	grc14378018_exome	19	rs79406182,rs3051927 dbSNP Clinvar	21474019	582.147	G	GT...	.	1/1	30	None	None	None	0.86222	0.86220					None None	None None None None	ZNF708\|0.000897854\|96.04%
	View	grc14378018_exome	19	rs487991 dbSNP Clinvar	21474131	1484.13	C	T	.	1/1	126	None	None	None	0.86222	0.86220					None None	None None None None	ZNF708\|0.000897854\|96.04%
	View	grc14378018_exome	19	rs488125 dbSNP Clinvar	21474173	1484.13	G	A	.	0/1	134	None	None	None	0.18790	0.18790					None None	None None None None	ZNF708\|0.000897854\|96.04%
	View	grc14378018_exome	19	rs489845 dbSNP Clinvar	21474314	1484.13	A	T	.	1/1	177	None	None	None	0.89776	0.89780					None None	None None None None	ZNF708\|0.000897854\|96.04%
	View	grc14378018_exome	19	rs8112775 dbSNP Clinvar	21474389	1484.13	C	T	.	1/1	160	None	None	None	0.86202	0.86200					None None	None None None None	ZNF708\|0.000897854\|96.04%
	View	grc14378018_exome	19	rs598959 dbSNP Clinvar	21475420	1484.13	T	C	.	1/1	35	None	None	None	0.90296	0.90300					None None	None None None None	ZNF708\|0.000897854\|96.04%
ZNF708
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs504280 dbSNP Clinvar	21477379	1484.13	C	T,A	.	0/1	134	NON_SYNONYMOUS_CODING	MODERATE	None	0.18550	0.18550	0.22336	1.00	0.00		None None	None None None None	ZNF708\|0.000897854\|96.04%
	View	grc14378018_exome	19	rs1781873 dbSNP Clinvar	21477431	1484.13	T	C	.	0/1	57	NON_SYNONYMOUS_CODING	MODERATE	None	0.62101	0.62100	0.41596	0.45	0.01		None None	None None None None	ZNF708\|0.000897854\|96.04%
	View	grc14378018_exome	19	rs547516 dbSNP Clinvar	21492062	1484.13	G	A	.	1/1	50	NON_SYNONYMOUS_CODING	MODERATE	None	0.89896	0.89900	0.02546	1.00	0.00		None None	None None None None	ZNF708\|0.000897854\|96.04%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs2012013 dbSNP Clinvar	21541806	1484.13	T	C	.	0/1	139	START_GAINED	LOW	None	0.60204	0.60200					None None	None None None None	ZNF738\|0.001415309\|93.26%
ZNF738
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs1142653 dbSNP Clinvar	21544571	1484.13	G	A,T	.	0/1	40	NON_SYNONYMOUS_CODING	MODERATE	None	0.60204	0.60200		0.85	0.00		None None	None None None None	ZNF738\|0.001415309\|93.26%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	grc14378018_exome	19	rs2937157 dbSNP Clinvar	21560805	24.0469	G	A	.	1/1	6	None	None	None	0.87560	0.87560					None None	None None None None	ZNF738\|0.001415309\|93.26%
	View	grc14378018_exome	19	rs35081700,rs398034249 dbSNP Clinvar	21561862	17.9713	AT	A	.	1/1	2	None	None	None	0.87600	0.87600					None None	None None None None	ZNF738\|0.001415309\|93.26%
	View	grc14378018_exome	19	rs7248601 dbSNP Clinvar	21563398	17.5454	A	G	.	0/1	8	None	None	None	0.63059	0.63060					None None	None None None None	None

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Summary

CD33

ADCK4

GP6

TNNT1

FAM71E2

SIGLEC10

SLC1A5

VSTM1

KCNA7

SIGLEC5

ZNF808

SLC7A9

ZNF737

ZNF737

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ZNF738

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