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Genes:
A1BG, ABCA7, AC004076.9, AC006116.20, AC008686.1, AC010642.1, AC011500.1, AC012313.1, AC018755.1, AC020907.1, AC020922.1, AC024592.12, AC074212.3, ACPT, ACSBG2, ACTL9, ADAMTS10, ADAMTSL5, ADCK4, AES, AKAP8L, ALDH16A1, AMH, ANGPTL4, ANKLE1, ANKRD24, ANKRD27, AP1M1, AP2S1, AP3D1, APBA3, APC2, APLP1, APOC4, APOE, ARHGAP33, ARHGEF1, ARHGEF18, ARID3A, ARMC6, ASF1B, ASPDH, ATF5, ATP1A3, ATP4A, ATP5SL, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B9D2, BCAM, BCAT2, BCL3, BIRC8, BLOC1S3, BRD4, BSG, BSPH1, BTBD2, C19orf10, C19orf12, C19orf24, C19orf26, C19orf33, C19orf40, C19orf44, C19orf45, C19orf48, C19orf53, C19orf54, C19orf55, C19orf68, C19orf71, C19orf81, C19orf84, C2CD4C, C3, C5AR1, CABP5, CACNA1A, CACTIN, CALR3, CAMSAP3, CAPN12, CARD8, CATSPERD, CATSPERG, CBLC, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC155, CCDC159, CCDC61, CCDC8, CCL25, CCNE1, CD177, CD33, CD37, CD70, CD97, CDC34, CDKN2D, CEACAM18, CEACAM21, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CELF5, CEP89, CERS1, CERS4, CGB2, CHAF1A, CHERP, CIB3, CILP2, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC4G, CLEC4M, CLPTM1, CNN1, CNN2, CNOT3, COL5A3, COLGALT1, COPE, COX6B1, CPAMD8, CRTC1, CTB-129P6.11, CTB-133G6.1, CTD-2162K18.4, CTD-3193O13.9, CTU1, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DENND1C, DHDH, DHX34, DKKL1, DLL3, DMKN, DMRTC2, DMWD, DNAAF3, DNAJB1, DNASE2, DNMT1, DOCK6, DPY19L3, DYRK1B, ECH1, ECSIT, EEF2, EGLN2, EHD2, EID2, EID2B, EIF3G, ELAVL3, ELL, ELSPBP1, EMC10, EMR1, EMR2, EMR3, EPN1, EPS15L1, ERCC2, ERF, ETFB, ETV2, EVI5L, EXOC3L2, F2RL3, FAM129C, FAM71E2, FAM83E, FAM98C, FBN3, FBXO17, FCAR, FCER2, FCGBP, FCGRT, FCHO1, FDX1L, FFAR1, FFAR2, FFAR3, FGF21, FIZ1, FKBP8, FLT3LG, FOXA3, FPR1, FPR3, FSD1, FTL, FUT2, FUT3, FUT5, FUZ, FXYD5, GADD45B, GALP, GAPDHS, GATAD2A, GCDH, GDF1, GDF15, GFY, GGN, GLTSCR1, GLTSCR2, GNA15, GP6, GPATCH1, GPI, GPR108, GPR4, GPR42, GPX4, GRAMD1A, GRIN2D, GRIN3B, GRWD1, GSK3A, GYS1, GZMM, HAPLN4, HAS1, HAUS5, HAUS8, HCN2, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPM, HNRNPUL1, HOMER3, HRC, HSH2D, HSPBP1, ICAM3, ICAM5, IFI30, IFNL2, IGSF23, IL11, IL4I1, ILF3, ILVBL, INSL3, INSR, IRF3, IRGQ, ISYNA1, IZUMO1, IZUMO4, JAK3, JSRP1, KANK2, KCNC3, KCTD15, KDM4B, KHSRP, KIAA0355, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KISS1R, KLF1, KLF2, KLK1, KLK10, KLK13, KLK3, KLK4, KLK5, KLK7, KLK9, KMT2B, KPTN, KRI1, KXD1, LAIR1, LDLR, LGALS14, LGALS16, LGI4, LHB, LIG1, LILRA2, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LINGO3, LMNB2, LMTK3, LPAR2, LPHN1, LPPR3, LRG1, LRP3, LRRC25, LRRC4B, LRRC8E, LSM4, LSR, LTBP4, LYL1, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAP1S, MAP2K2, MAP2K7, MAP3K10, MAP4K1, MARK4, MAST1, MAST3, MAU2, MBD3L1, MBD3L3, MBOAT7, MED16, MED25, MEF2B, MEX3D, MFSD12, MIDN, MISP, MOB3A, MPND, MPV17L2, MRI1, MRPL4, MRPL54, MUC16, MUM1, MVB12A, MYBPC2, MYH14, MYO1F, MYO9B, MYPOP, NAPSA, NAT14, NCAN, NCLN, NCR1, NDUFA11, NDUFA3, NDUFB7, NDUFS7, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOSIP, NOTCH3, NOVA2, NPAS1, NPHS1, NR1H2, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, ODF3L2, OPA3, OR10H1, OR10H2, OR10H3, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, OSCAR, OVOL3, PALM, PALM3, PAPL, PCP2, PDE4A, PDE4C, PEG3, PEPD, PEX11G, PGLS, PGLYRP2, PHLDB3, PIAS4, PIH1D1, PIK3R2, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, PNMAL1, PNPLA6, POLD1, POLR2E, POLRMT, POP4, PPAN-P2RY11, PPAP2C, PPFIA3, PPP1R12C, PPP1R15A, PPP5C, PPP6R1, PRAM1, PRKCG, PRKD2, PRODH2, PRPF31, PRR12, PRRG2, PRSS57, PRTN3, PRX, PSG1, PSG11, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PSMD8, PTBP1, PTGIR, PTPRH, PTPRS, PVR, PVRL2, QPCTL, R3HDM4, RAB11B, RASGRP4, RAVER1, RDH13, RDH8, REXO1, RFPL4A, RFPL4AL1, RFX2, RGL3, RGS9BP, RHPN2, RINL, RNASEH2A, RPS16, RPSAP58, RRAS, RTBDN, RTN2, RUVBL2, RYR1, S1PR2, S1PR5, SAE1, SAMD1, SBK2, SBK3, SBNO2, SBSN, SCAF1, SCN1B, SDHAF1, SELV, SEMA6B, SERTAD3, SGTA, SHANK1, SHC2, SHD, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC9, SIN3B, SIPA1L3, SIX5, SLC1A5, SLC1A6, SLC27A1, SLC35E1, SLC39A3, SLC44A2, SNAPC2, SPHK2, SPIB, SPRED3, SPTBN4, SSBP4, SSC5D, STAP2, STXBP2, SUGP2, SULT2A1, SUPT5H, SUV420H2, SYMPK, SYNE4, SYT3, TBC1D17, TBXA2R, TCF3, TDRD12, TEX101, TGFB1, THAP8, THEG, TICAM1, TJP3, TLE6, TMC4, TMEM143, TMEM161A, TMEM221, TMEM238, TMEM259, TMEM86B, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNNI3, TNNT1, TRIP10, TSEN34, TSKS, TSSK6, TUBB4A, TYK2, U2AF2, UBA2, UBA52, UBE2S, UBXN6, UNC13A, UPK1A, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VN1R1, VN1R2, VN1R4, VSIG10L, VSTM1, WDR18, WDR62, WDR87, WDR88, WTIP, XAB2, XRCC1, YIF1B, ZFP28, ZFP82, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF112, ZNF114, ZNF132, ZNF135, ZNF146, ZNF155, ZNF175, ZNF177, ZNF180, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF256, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF382, ZNF404, ZNF414, ZNF417, ZNF419, ZNF429, ZNF430, ZNF431, ZNF432, ZNF44, ZNF440, ZNF441, ZNF443, ZNF45, ZNF468, ZNF470, ZNF471, ZNF480, ZNF492, ZNF497, ZNF506, ZNF507, ZNF524, ZNF525, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF543, ZNF544, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF554, ZNF555, ZNF559, ZNF562, ZNF565, ZNF567, ZNF568, ZNF57, ZNF571, ZNF573, ZNF574, ZNF577, ZNF578, ZNF579, ZNF581, ZNF585B, ZNF587B, ZNF600, ZNF607, ZNF610, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF628, ZNF66, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF701, ZNF708, ZNF71, ZNF714, ZNF724P, ZNF729, ZNF730, ZNF737, ZNF738, ZNF749, ZNF765, ZNF77, ZNF772, ZNF776, ZNF787, ZNF788, ZNF792, ZNF793, ZNF799, ZNF8, ZNF805, ZNF814, ZNF816, ZNF83, ZNF835, ZNF837, ZNF841, ZNF845, ZNF846, ZNF85, ZNF850, ZNF880, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN5C, ZSWIM4, hsa-mir-1199, hsa-mir-150,

+ Genes associated with diseases 119

Genes at Omim

ABCA7, ACPT, ADAMTS10, AMH, ANGPTL4, AP2S1, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, AURKC, B9D2, BCAT2, BCL3, BLOC1S3, BSG, C19orf12, C3, CACNA1A, CC2D1A, CCDC114, CCDC8, CERS1, CLEC4M, COLGALT1, COX6B1, CPAMD8, CRTC1, CYP2A6, CYP2B6, DLL3, DNAAF3, DNMT1, DOCK6, DYRK1B, EEF2, ERCC2, ERF, ETFB, FDX1L, FTL, FUT2, FUT3, FUZ, GCDH, GDF1, GP6, GPI, GPX4, GRIN2D, GYS1, INSL3, INSR, IRF3, JAK3, KANK2, KCNC3, KIR3DL1, KISS1R, KLF1, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LMNB2, LTBP4, LYL1, MAG, MAP2K2, MAST1, MBOAT7, MED25, MYH14, MYO9B, NDUFA11, NDUFS7, NLRP12, NOTCH3, NPHS1, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKCG, PRPF31, PRX, RAB11B, RGS9BP, RNASEH2A, RTN2, RYR1, S1PR2, SCN1B, SDHAF1, SIPA1L3, SIX5, SPTBN4, STXBP2, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TLE6, TNNI3, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, XRCC1,

ABCA7	{Alzheimer disease 9, susceptibility to}, 608907 (3)
ACPT	Amelogenesis imperfecta, type IJ, 617297 (3)
ADAMTS10	Weill-Marchesani syndrome 1, recessive, 277600 (3)
AMH	Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4	Plasma triglyceride level QTL, low, 615881 (3)
AP2S1	Hypocalciuric hypercalcemia, type III, 600740 (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)
BCL3	Leukemia/lymphoma, B-cell, 3 (2)
BLOC1S3	Hermansky-Pudlak syndrome 8, 614077 (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)
CC2D1A	Mental retardation, autosomal recessive 3, 608443 (3)
CCDC114	Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC8	3-M syndrome 3, 614205 (3)
CERS1	?Epilepsy, progressive myoclonic, 8, 616230 (3)
CLEC4M	SARS infection, protection against (2)
COLGALT1	Brain small vessel disease 3, 618360 (3)
COX6B1	Mitochondrial complex IV deficiency, 220110 (3)
CPAMD8	Anterior segment dysgenesis 8, 617319 (3)
CRTC1	Mucoepidermoid salivary gland carcinoma (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)
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)
DYRK1B	Abdominal obesity-metabolic syndrome 3, 615812 (3)
EEF2	?Spinocerebellar ataxia 26, 609306 (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)
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)
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)
GP6	Bleeding disorder, platelet-type, 11, 614201 (3)
GPI	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)
GPX4	Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRIN2D	Epileptic encephalopathy, early infantile, 46, 617162 (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)
IRF3	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (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)
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)
LTBP4	Cutis laxa, autosomal recessive, type IC, 613177 (3)
LYL1	Leukemia, T-cell acute lymphoblastoid (2)
MAG	Spastic paraplegia 75, autosomal recessive, 616680 (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)
MED25	Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3) ?Charcot-Marie-Tooth disease, type 2B2, 605589 (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)
NPHS1	Nephrotic syndrome, type 1, 256300 (3)
NUP62	Striatonigral degeneration, infantile, 271930 (3)
OPA3	Optic atrophy 3 with cataract, 165300 (3) 3-methylglutaconic aciduria, type III, 258501 (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)
PRKCG	Spinocerebellar ataxia 14, 605361 (3)
PRPF31	Retinitis pigmentosa 11, 600138 (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)
RGS9BP	Bradyopsia, 608415 (3)
RNASEH2A	Aicardi-Goutieres syndrome 4, 610333 (3)
RTN2	Spastic paraplegia 12, autosomal dominant, 604805 (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)
SIPA1L3	?Cataract 45, 616851 (3)
SIX5	Branchiootorenal syndrome 2, 610896 (3)
SPTBN4	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
STXBP2	Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (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)
TLE6	Preimplantation embryonic lethality, 616814 (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)
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

ADAMTS10, ADCK4, AMH, AP2S1, APOE, ATP1A3, AURKC, B9D2, BCAM, BLOC1S3, BSG, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CCDC8, CERS1, COX6B1, CYP2A6, CYP2B6, CYP4F2, DLL3, DNMT1, DOCK6, DYRK1B, ERCC2, ERF, ETFB, FTL, FUT3, FUZ, GCDH, GDF1, GP6, GPI, GPX4, GYS1, INSL3, INSR, IRF3, JAK3, KANK2, KCNC3, KISS1R, KLF1, KLK4, KPTN, LDLR, LHB, LMNB2, LTBP4, MAG, MAP2K2, MED25, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NPHS1, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKCG, PRPF31, PRX, RGS9BP, RNASEH2A, RTN2, RYR1, S1PR2, SCN1B, SDHAF1, SIPA1L3, SIX5, STXBP2, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TLE6, TNNI3, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, ZIM2, ZNF480, ZNF565,

ADAMTS10	Weill-Marchesani syndrome 1
ADCK4	Nephrotic syndrome, type 9
AMH	Persistent Mullerian duct syndrome, type I
AP2S1	Hypocalciuric hypercalcemia, familial, type III
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
BLOC1S3	Hermansky-Pudlak syndrome 8
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
CCDC8	Three M syndrome 3
CERS1	Epilepsy, progressive myoclonic 8
COX6B1	Mitochondrial complex IV deficiency
CYP2A6	CYP2A6-related drug metabolism
CYP2B6	Efavirenz, poor metabolism of
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
DYRK1B	Abdominal obesity-metabolic syndrome 3
ERCC2	Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D
ERF	Craniosynostosis 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
FUZ	Neural tube defects, susceptibility to
GCDH	Glutaric aciduria, type I
GDF1	Transposition of the great arteries, dextro-looped 3 Double-outlet right ventricle
GP6	Bleeding disorder, platelet-type, 11
GPI	Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency
GPX4	Sedaghatian-type spondylometaphyseal dysplasia
GYS1	Glycogen storage disease, type 0, muscle
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
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
LTBP4	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAG	Spastic paraplegia, autosomal recessive 75
MAP2K2	Cardiofaciocutaneous syndrome
MED25	Basel-Vanagait-Smirin-Yosef syndrome Charcot-Marie-Tooth disease, axonal, tybe 2B2
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)
NPHS1	Nephrotic syndrome, type 1
NUP62	Striatonigral degeneration, infantile
OPA3	3-methylglutaconic aciduria, type III Optic atrophy 3, autosomal dominant
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
PRKCG	Spinocerebellar ataxia 14
PRPF31	Retinitis pigmentosa 11
PRX	Dejerine-Sottas disease Charcot-Marie-Tooth disease, type 4F
RGS9BP	Bradyopsia
RNASEH2A	Aicardi-Goutieres syndrome 4
RTN2	Spastic paraplegia 12, autosomal dominant
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
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
TLE6	Preimplantation embryonic lethality
TNNI3	Cardiomyopathy, familial hypertrophic 7 Cardiomyopathy, dilated 1FF Cardiomyopathy, dilated, 2A Cardiomyopathy, familial restrictive
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: 6033
Number of Genes: 792

Export to: CSV

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A1BG
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs893184 dbSNP Clinvar	58864479	3420.77	T	C	PASS	1/1	86	None	None	None	0.84844	0.84840	0.10849	0.91	0.00	-0.13	None None	None None None None	A1BG\|0.00221541\|90.38%
ABCA7
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs3745842 dbSNP Clinvar	1055191	2679.77	G	A	PASS	1/1	63	None	None	None	0.39058	0.39060	0.40647	0.54	0.00	-0.16	None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs78320196 dbSNP Clinvar	1061804	1645.77	T	C	PASS	0/1	103	None	None	None	0.05970	0.05970	0.03914				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs3752243 dbSNP Clinvar	1054060	6360.77	A	G	PASS	1/1	143	None	None	None	0.53614	0.53610	0.47355				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs881768 dbSNP Clinvar	1056065	2457.77	A	G	PASS	1/1	65	None	None	None	0.44209	0.44210	0.45937				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs3752246 dbSNP Clinvar	1056492	1500.77	G	C	PASS	1/1	35	None	None	None	0.82548	0.82550	0.12788	1.00	0.00	-1.16	None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs3752237 dbSNP Clinvar	1047161	1668.77	A	G	PASS	1/1	40	None	None	None	0.69529	0.69530	0.37591				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs3752234 dbSNP Clinvar	1047002	889.77	A	G	PASS	0/1	49	None	None	None	0.57887	0.57890	0.46635				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs4147934 dbSNP Clinvar	1065018	782.77	G	T	PASS	0/1	58	None	None	None	0.60503	0.60500	0.25026	0.88	0.03	-1.19	None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs3764645 dbSNP Clinvar	1042809	1327.77	A	G	PASS	1/1	33	None	None	None	0.39956	0.39960	0.38867	0.48	0.04	0.62	None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs4147914 dbSNP Clinvar	1049269	388.77	G	A	PASS	0/1	24	None	None	None	0.24062	0.24060	0.15286				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs4147915 dbSNP Clinvar	1049305	372.77	C	A	PASS	0/1	33	None	None	None	0.19988	0.19990	0.13185				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs4147930 dbSNP Clinvar	1064193	420.77	G	A	PASS	0/1	44	None	None	None	0.60643	0.60640	0.29566				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs3764652 dbSNP Clinvar	1052005	1528.77	C	T	PASS	1/1	37	None	None	None	0.37939	0.37940	0.40154				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs3752241 dbSNP Clinvar	1053524	1214.77	C	G	PASS	0/1	74	None	None	None	0.18271	0.18270	0.16388				None None	None None None None	ABCA7\|0.007770288\|82.8%
AC004076.9
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs4801481 dbSNP Clinvar	57949426	2001.77	A	G	PASS	1/1	48	None	None	None	0.90915	0.90910		0.00	0.00	1.03	None None	None None None None	ZNF749\|0.000341563\|99.24%
AC006116.20
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs3205192 dbSNP Clinvar	56797879	244.77	G	A	PASS	0/1	28	None	None	None	0.37640	0.37640			0.00	-0.19	None None	None None None None	ZSCAN5A\|0.000278912\|99.5%
AC008686.1
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs8104574 dbSNP Clinvar	13892285	389.77	G	T	PASS	0/1	16	None	None	None	0.36721	0.36720		0.01	0.95	2.54	None None	None None None None	None
AC010642.1
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs437229 dbSNP Clinvar	58790675	3334.77	T	C	PASS	1/1	86	None	None	None	0.64477	0.64480					None None	None None None None	ZNF8\|0.004857832\|86%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	19	rs374431 dbSNP Clinvar	58790713	2139.77	G	C	PASS	1/1	43	None	None	None	0.60623	0.60620		0.00	0.00		None None	None None None None	ZNF8\|0.004857832\|86%
AC011500.1
Omim - GeneCards - NCBI