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+ Genes 408

Genes:
A1CF, ABCC2, ABLIM1, ACADSB, ACBD5, ADAM12, ADAM8, ADAMTS14, ADARB2, ADIRF, ADRA2A, ADRB1, AFAP1L2, AGAP4, AGAP6, AGAP7, AGAP8, AGAP9, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1CL1, AL133481.1, AL162407.1, AL359195.1, AL359878.1, AL450307.1, AL603965.1, ALOX5, ANK3, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANTXRL, ANXA11, ANXA8L2, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARMC3, ARMC4, ARMS2, ASAH2, ATE1, ATRNL1, AVPI1, BAG3, BEND7, BLNK, BLOC1S2, BMS1, BTBD16, C10ORF68, C10orf107, C10orf11, C10orf113, C10orf12, C10orf120, C10orf128, C10orf129, C10orf25, C10orf35, C10orf53, C10orf54, C10orf67, C10orf71, C10orf90, CALHM1, CALHM3, CALML3, CALML5, CAMK1D, CCAR1, CCDC147, CCDC3, CCDC6, CCDC7, CCSER2, CDH23, CDHR1, CELF2, CEP55, CHAT, CHST15, CHUK, CNNM1, COL13A1, COL17A1, COX15, CPEB3, CPXM2, CRTAC1, CTBP2, CUBN, CUL2, CWF19L1, CYP17A1, CYP2C18, CYP2C19, CYP2C8, CYP2E1, DCLRE1A, DCLRE1C, DDX50, DHTKD1, DIP2C, DKK1, DLG5, DMBT1, DNMBP, DNTT, DOCK1, DPYSL4, DUPD1, DUSP13, DUSP5, EBLN1, ECD, ECHDC3, ECHS1, EGR2, EIF3A, EIF4EBP2, ENO4, ERCC6, ERCC6-PGBD3, EXOC6, FAM107B, FAM149B1, FAM170B, FAM175B, FAM196A, FAM208B, FAM21A, FAM21B, FAM24B, FAM25A, FAM35A, FAM45A, FAS, FBXO18, FGFR2, FRA10AC1, FRG2B, FRMD4A, FRMPD2, GAD2, GBF1, GFRA1, GJD4, GPAM, GPR123, GPR158, GPR26, GPRIN2, GRID1, GSTO1, GSTO2, GTPBP4, HABP2, HECTD2, HELLS, HERC4, HK1, HKDC1, HPSE2, IDI1, IDI2, IFIT1, IFIT2, IL15RA, INPP5A, INPP5F, ITGA8, ITGB1, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAT6B, KAZALD1, KCNK18, KCNMA1, KIAA1217, KIAA1462, KIF20B, KNDC1, LARP4B, LDB3, LGI1, LHPP, LIPF, LIPJ, LIPK, LIPM, LIPN, LOXL4, LRIT1, LRIT2, LRRC18, LRRC27, LYZL1, LYZL2, LZTS2, MALRD1, MARCH8, MASTL, MAT1A, MBL2, MCM10, MCMBP, MEIG1, MGEA5, MGMT, MKI67, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRC1L1, MRPL43, MTG1, MTPAP, MYO3A, MYOF, MYPN, NAMPTL, NCOA4, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX2-3, NKX6-2, NOC3L, NODAL, NOLC1, NPFFR1, NPY4R, NRAP, NRG3, NRP1, NUTM2A, NUTM2B, NUTM2D, OAT, OBFC1, OGDHL, OPN4, OPTN, PALD1, PANK1, PAOX, PARD3, PAX2, PBLD, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDZD7, PFKP, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLR3A, PPRC1, PRAP1, PRDX3, PRF1, PRKCQ, PRLHR, PRPF18, PRR26, PSD, PSTK, PTCHD3, PTER, PTF1A, PTPLA, PTPRE, PYROXD2, R3HCC1L, RAB11FIP2, RASSF4, RBM20, RBP3, RET, RGR, RNLS, RP11-248J23.6, RP11-295P9.3, RP11-451M19.3, RPS24, RRP12, RSU1, RTKN2, RUFY2, SEC23IP, SEC31B, SEPHS1, SFMBT2, SFR1, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN4, SGPL1, SH3PXD2A, SIRT1, SKIDA1, SLC16A9, SLC18A3, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SORBS1, SORCS1, SORCS3, SPRN, ST8SIA6, STAM, STK32C, STOX1, SUFU, SUPV3L1, SVIL, SYT15, TACC2, TACR2, TAF3, TAF5, TBATA, TBC1D12, TCERG1L, TCF7L2, TECTB, TET1, TEX36, TFAM, TIMM23, TLL2, TLX1NB, TM9SF3, TMEM180, TMEM254, TNKS2, TRDMT1, TTC18, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UCMA, UCN3, UNC5B, UPF2, USP6NL, VENTX, VSTM4, VWA2, WAPAL, WBP1L, WDFY4, WDR37, WNT8B, ZDHHC6, ZFYVE27, ZMYND11, ZNF239, ZNF33B, ZNF365, ZNF438, ZNF485, ZNF487, ZNF511, ZRANB1, ZWINT,

+ Genes associated with diseases 88

Genes at Omim

ABCC2, ACADSB, ADRB1, AKR1C2, AKR1C4, ALOX5, ANK3, ANKRD26, ANXA11, ARMC4, BAG3, BLNK, BMS1, CDH23, CDHR1, CEP55, CHAT, CHUK, COL13A1, COL17A1, COX15, CUBN, CWF19L1, CYP17A1, CYP2C8, DCLRE1C, DHTKD1, ECHS1, EGR2, ERCC6, FAS, FGFR2, FRMD4A, HABP2, HELLS, HK1, HPSE2, ITGA8, KAT6B, KCNK18, KCNMA1, LDB3, LGI1, LIPN, MAT1A, MBL2, MMP21, MTPAP, MYO3A, MYPN, NEUROG3, NFKB2, NHLRC2, NKX6-2, NODAL, OAT, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, PNLIP, POLR3A, PRF1, PTF1A, RBM20, RBP3, RET, RGR, RPS24, SFTPA2, SFXN4, SGPL1, SLC18A3, SLC29A3, SMC3, STOX1, SUFU, TCF7L2, TFAM, TUBB8, ZFYVE27, ZMYND11, ZNF365,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
ACADSB 2-methylbutyrylglycinuria, 610006 (3)
ADRB1 [Resting heart rate], 607276 (3)
{Congestive heart failure and beta-blocker response, modifier of} (3)
AKR1C2 46XY sex reversal 8, 614279 (3)
AKR1C4 {46XY sex reversal 8, modifier of}, 614279 (3)
ALOX5 {Asthma, diminished response to antileukotriene treatment in}, 600807 (3)
{Atherosclerosis, susceptibility to} (3)
ANK3 ?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26 Thrombocytopenia 2, 188000 (3)
ANXA11 Amytrophic lateral sclerosis 23, 617839 (3)
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)
BAG3 Cardiomyopathy, dilated, 1HH, 613881 (3)
Myopathy, myofibrillar, 6, 612954 (3)
BLNK ?Agammaglobulinemia 4, 613502 (3)
BMS1 ?Aplasia cutis congenita, nonsyndromic, 107600 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CDHR1 Cone-rod dystrophy 15, 613660 (3)
Retinitis pigmentosa 65, 613660 (3)
CEP55 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHUK Cocoon syndrome, 613630 (3)
COL13A1 Myasthenic syndrome, congenital, 19, 616720 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CWF19L1 Spinocerebellar ataxia, autosomal recessive 17, 616127 (3)
CYP17A1 17,20-lyase deficiency, isolated, 202110 (3)
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP2C8 {Drug metabolism, altered, CYP2C8-related}, 618018 (3)
DCLRE1C Omenn syndrome, 603554 (3)
Severe combined immunodeficiency, Athabascan type, 602450 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
EGR2 Charcot-Marie-Tooth disease, type 1D, 607678 (3)
Hypomyelinating neuropathy, congenital, 1, 605253 (3)
Dejerine-Sottas disease, 145900 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
FAS Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)
Squamous cell carcinoma, burn scar-related, somatic (3)
{Autoimmune lymphoproliferative syndrome}, 601859 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
FRMD4A ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
HABP2 {Venous thromboembolism, susceptibility to}, 188050 (3)
{?Thyroid cancer, nonmedullary, 5}, 616535 (3)
HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3)
HK1 Hemolytic anemia due to hexokinase deficiency, 235700 (3)
Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Retinitis pigmentosa 79, 617460 (3)
HPSE2 Urofacial syndrome 1, 236730 (3)
ITGA8 Renal hypodysplasia/aplasia 1, 191830 (3)
KAT6B Genitopatellar syndrome, 606170 (3)
SBBYSS syndrome, 603736 (3)
KCNK18 {Migraine, with or without aura, susceptibility to, 13}, 613656 (3)
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)
?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)
Cardiomyopathy, hypertrophic, 24, 601493 (3)
Left ventricular noncompaction 3, 601493 (3)
Myopathy, myofibrillar, 4, 609452 (3)
LGI1 Epilepsy, familial temporal lobe, 1, 600512 (3)
LIPN Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MBL2 {Chronic infections, due to MBL deficiency}, 614372 (3)
MMP21 Heterotaxy, visceral, 7, autosomal, 616749 (3)
MTPAP ?Spastic ataxia 4, autosomal recessive, 613672 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
MYPN Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
Nemaline myopathy 11, autosomal recessive, 617336 (3)
NEUROG3 Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NHLRC2 FINCA syndrome, 618278 (3)
NKX6-2 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
NODAL Heterotaxy, visceral, 5, 270100 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
OPTN {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Amyotrophic lateral sclerosis 12, 613435 (3)
Glaucoma 1, open angle, E, 137760 (3)
PAX2 Glomerulosclerosis, focal segmental, 7, 616002 (3)
Papillorenal syndrome, 120330 (3)
PCDH15 Deafness, autosomal recessive 23, 609533 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
Usher syndrome, type 1F, 602083 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PDZD7 Deafness, autosomal recessive 57, 618003 (3)
{Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3)
Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
PHYH Refsum disease, 266500 (3)
PITX3 Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)
Cataract 11, multiple types, 610623 (3)
Cataract 11, syndromic, autosomal recessive, 610623 (3)
PLAU Quebec platelet disorder, 601709 (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PLCE1 Nephrotic syndrome, type 3, 610725 (3)
PNLIP ?Pancreatic lipase deficiency, 614338 (3)
POLR3A Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)
Wiedemann-Rautenstrauch syndrome, 264090 (3)
PRF1 Aplastic anemia, 609135 (3)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Lymphoma, non-Hodgkin, 605027 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (3)
RBP3 ?Retinitis pigmentosa 66, 615233 (3)
RET {Hirschsprung disease, protection against}, 142623 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
RGR Retinitis pigmentosa 44, 613769 (3)
RPS24 Diamond-blackfan anemia 3, 610629 (3)
SFTPA2 Pulmonary fibrosis, idiopathic, 178500 (3)
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 (3)
SGPL1 Nephrotic syndrome, type 14, 617575 (3)
SLC18A3 Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3 Cornelia de Lange syndrome 3, 610759 (3)
STOX1 Preeclampsia/eclampsia 4, 609404 (3)
SUFU Basal cell nevus syndrome, 109400 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
Joubert syndrome 32, 617757 (3)
Medulloblastoma, desmoplastic, 155255 (3)
TCF7L2 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
TFAM ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3)
TUBB8 Oocyte maturation defect 2, 616780 (3)
ZFYVE27 Spastic paraplegia 33, autosomal dominant, 610244 (3)
ZMYND11 Mental retardation, autosomal dominant 30, 616083 (3)
ZNF365 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, ACADSB, ADRB1, AKR1C2, ALOX5, ANKRD26, ARMC4, BAG3, BLNK, BMS1, CDH23, CDHR1, CHAT, CHUK, COL13A1, COL17A1, COX15, CUBN, CWF19L1, CYP17A1, CYP2C19, CYP2C8, DCLRE1C, DHTKD1, ECHS1, EGR2, ERCC6, FAS, FGFR2, FRMD4A, HABP2, HELLS, HK1, HPSE2, ITGA8, KAT6B, KCNK18, KCNMA1, LDB3, LGI1, LIPN, MASTL, MAT1A, MBL2, MMP21, MTPAP, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, OAT, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, POLR3A, PRF1, PTF1A, RBM20, RBP3, RET, RGR, RPS24, SFTPA2, SFXN4, SLC29A3, SMC3, SUFU, TUBB8, ZFYVE27, ZMYND11,
ABCC2 Dubin-Johnson syndrome
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ADRB1 Beta-blocker response, association with
AKR1C2 46,XY sex reversal 8
ALOX5 Asthma, diminished response to antileukotriene treatment in
ANKRD26 Thrombocytopenia 2
ARMC4 Ciliary dyskinesia, primary, 23
BAG3 Cardiomyopathy, dilated, 1HH
Myopathy, myofibrillar 6
BLNK Agammaglobulinemia 4
BMS1 Aplasia cutis congenita, nonsyndromic
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CDHR1 Cone-rod dystrophy 15
Retinitis pigmentosa 65
CHAT Myasthenic syndrome, congenital 6, presynaptic
CHUK Cocoon syndrome
COL13A1 Myasthenic syndrome, congenital, 19
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COX15 Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
CUBN Megaloblastic anemia-1, Finnish type
CWF19L1 Spinocerebellar ataxia, autosomal recessive 17
CYP17A1 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP2C19 Drug metabolism, CYP2C19-related
CYP2C8 Rhabdomyolysis, cerivastatin-induced
DCLRE1C Omenn syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
DHTKD1 Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGR2 Charcot-Marie-Tooth disease, demyelinating, type 1D
Neuropathy, congenital hypomyelinating, 1
Dejerine-Sottas disease
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
FAS Autoimmune lymphoproliferative syndrome, type IA
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
FRMD4A Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
HABP2 Thyroid cancer, nonmedullary 5
HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HPSE2 Ochoa syndrome
Urofacial syndrome 1
ITGA8 Renal agenesis, bilateral
KAT6B Ohdo syndrome, SBBYS variant
Genitopatellar syndrome
KCNK18 Migraine, with or without aura, susceptibility to, 13
KCNMA1 Generalized epilepsy and paroxysmal dyskinesia
LDB3 Cardiomyopathy, dilated 1C, with or without ventricular noncompaction
Myopathy, myofibrillar 4
LGI1 Epilepsy, familial temporal lobe, 1
LIPN Ichthyosis, congenital, autosomal recessive 8
MASTL Thrombocytopenia 2
MAT1A Methionine adenosyltransferase deficiency
MBL2 Mannose-binding protein deficiency
MMP21 Heterotaxy, visceral, 7
MTPAP Spastic ataxia 4, autosomal recessive
MYO3A Deafness, autosomal recessive 30
MYPN Cardiomyopathy, dilated, 1KK
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, familial restrictive, 4
NEUROG3 Diarrhea 4, malabsorptive, congenital
NFKB2 Immunodeficiency, common variable, 10
NODAL Heterotaxy, visceral, 5
OAT Gyrate atrophy of choroid and retina
OPTN Glaucoma, normal tension, susceptibility to
Glaucoma 1, open angle, E
PAX2 Isolated renal hypoplasia
Papillorenal syndrome
PCDH15 Deafness, autosomal recessive 23
Usher syndrome, type 1F
Usher syndrome, type 1D/F, digenic
PDE6C Cone dystrophy 4
PDZD7 Usher syndrome, type IIC
PHYH Refsum disease
PITX3 Cataract, posterior polar, 4
Cataract, congenital
Cataract, posterior polar 4, syndromic
Anterior segment mesenchymal dysgenesis
PLAU Quebec platelet disorder
PLCE1 Nephrotic syndrome, type 3
POLR3A Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2
Lymphoma, non-Hodgkin
Aplastic anemia, adult-onset
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
RBM20 Cardiomyopathy, dilated, 1DD
RBP3 Retinitis pigmentosa 66
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
RGR Retinitis pigmentosa 44
RPS24 Diamond-Blackfan anemia 3
SFTPA2 Pulmonary fibrosis, idiopathic
SFXN4 Combined oxidative phosphorylation deficiency 18
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SMC3 Cornelia de Lange syndrome 3
SUFU Medulloblastoma
Basal cell nevus syndrome
TUBB8 Oocyte maturation defect 2
ZFYVE27 Spastic paraplegia 33, autosomal dominant
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 3862
Number of Genes: 408

Export to: CSV

PLXDC2
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 20105996 970.73 TG... TG... PASS 0/1 62 None None None None None None None None None PLXDC2|0.401730057|20.65%
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 102770293 1028.73 TG... TG... PASS 0/1 62 None None None None None None None None None PDZD7|0.166478765|40.77%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 71000540 1122.94 GG AT PASS 0/1 124 None None None None None None None None None HKDC1|0.10791713|49.6%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 90484420 461.21 CA... AA... PASS 0/1 37 None None None None None None None None None LIPK|0.030635989|69.13%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 106970848 830.73 AGC AC PASS 0/1 48 None None None None None None None None None SORCS3|0.835692413|4.96%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 5200739 1302.73 TAG TA... PASS 1/1 28 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 106974123 308.73 AA... AA... PASS 0/1 37 None None None None None None None None None SORCS3|0.835692413|4.96%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 135491351 14.45 C A PASS 0/1 8 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 13789527 313.73 CA... CA... PASS 1/1 15 None None None None None None None None None FRMD4A|0.388201473|21.52%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 135491321 31.7 C T PASS 0/1 13 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 13789975 258.0 GA TT PASS 0/1 24 None None None None None None None None None FRMD4A|0.388201473|21.52%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 102750621 1027.24 CGT TGC PASS 0/1 77 None None None None None None None None None C10orf2|0.31065851|26.77%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 106602496 362.73 CT... CT... PASS 0/1 31 None None None None None None None None None SORCS3|0.835692413|4.96%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 108371571 1369.73 AG... AG... PASS 1/1 31 None None None None None None None None None SORCS1|0.758861489|6.87%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 102780354 771.73 TGGG TGG PASS 0/1 72 None None None None None None None None None PDZD7|0.166478765|40.77%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 104214080 46.73 CT... CT... PASS 0/1 22 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 101486644 51.23 CA... CA... PASS 0/1 14 None None None None None None None None None CUTC|0.443820393|18.49%,COX15|0.173446292|39.87%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 101480604 575.73 CAGG CA... PASS 0/1 27 None None None None None None None None None CUTC|0.443820393|18.49%,COX15|0.173446292|39.87%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 135472959 1674.74 GC TG PASS 0/1 120 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 135472911 822.92 ATTGC CTCGA PASS 0/1 77 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 28151604 144.73 AT... AT... PASS 0/1 18 None None None None None None None None None ARMC4|0.02617115|71.23%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 135439822 90.92 GG... AG... PASS 0/1 25 None None None None None None None None None FRG2B|0.002165263|90.54%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 17164760 1390.73 ACT ACCT PASS 1/1 43 None None None None None None None None None CUBN|0.033721807|67.86%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 17164772 170.73 CA... CA... PASS 0/1 48 None None None None None None None None None CUBN|0.033721807|67.86%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 101420283 228.19 GC... GC... PASS 1/1 8 None None None None None None None None None ENTPD7|0.209407283|35.63%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 71851429 192.68 CA... CA... PASS 0/1 34 None None None None None None None None None H2AFY2|0.622928652|11.03%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 104230930 874.73 TT... TTC PASS 0/1 34 None None None None None None None None None TMEM180|0.184381022|38.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 112360689 74.78 G T PASS 0/1 23 None None None None None None None None None SMC3|0.940083987|2.48%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 100991971 32.25 TA... TG... PASS 0/1 7 None None None None None None None None None HPSE2|0.895466364|3.52%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 105797045 163.65 AT... AT... PASS 1/2 31 None None None None None None None None None COL17A1|0.220252717|34.39%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 17202186 43.73 CAGT CA... PASS 0/1 3 None None None None None None None None None TRDMT1|0.109811287|49.24%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 27821259 199.73 AA... AA... PASS 0/1 10 None None None None None None None None None RAB18|0.540343194|14.2%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 17203598 53.7 AA... AAAAG PASS 1/1 2 None None None None None None None None None TRDMT1|0.109811287|49.24%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 71914712 462.73 GA... GAAG PASS 0/1 25 None None None None None None None None None SAR1A|0.865484194|4.37%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 100250019 922.73 GA... GA... PASS 0/1 40 None None None None None None None None None HPSE2|0.895466364|3.52%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 17204246 383.25 TA... TA... PASS 2/3 12 None None None None None None None None None TRDMT1|0.109811287|49.24%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 100219683 1207.73 AC... AC... PASS 1/1 40 None None None None None None None None None HPSE2|0.895466364|3.52%

PTCHD3
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 27702256 1374.73 GC... GC... PASS 0/1 125 FRAME_SHIFT HIGH None None None None None None None PTCHD3|0.001856639|91.39%
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 72037687 1200.73 TGGGG TG... PASS 0/1 92 None None None None None None None None None NPFFR1|0.097248408|51.68%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 17365012 129.54 TT AA PASS 0/1 13 None None None None None None None None None ST8SIA6|0.025484766|71.57%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 100157329 725.73 AC... AC... PASS 0/1 71 None None None None None None None None None PYROXD2|0.061661589|59.4%

KAT6B
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 76781905 803.73 GG... GG... PASS 0/1 31 CODON_DELETION MODERATE None None None None None None None KAT6B|0.719816483|7.97%
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 72207517 592.73 ACC AC PASS 1/1 17 None None None None None None None None None NODAL|0.249574119|31.54%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 75016364 81.81 TT AA PASS 0/1 12 None None None None None None None None None CFAP70|0.092854189|52.64%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 75874166 716.19 CG... CG... PASS 1/2 35 None None None None None None None None None VCL|0.962713666|1.9%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 112044553 550.74 GT... GT... PASS 1/1 29 None None None None None None None None None MXI1|0.818546253|5.35%

FRG2B
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 135438951 2197.21 GGCCC AGCCT PASS 0/1 294 NON_SYNONYMOUS_CODING MODERATE None None None None None None None FRG2B|0.002165263|90.54%
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 75410558 2065.73 AA... AA... PASS 1/1 41 None None None None None None None None None SYNPO2L|0.0660965|58.34%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 112044842 455.73 TA... TA... PASS 0/1 28 None None None None None None None None None MXI1|0.818546253|5.35%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 27461964 344.77 T C PASS 0/1 29 None None None None None None None None None MASTL|0.148437905|43.23%

DUSP5
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 112266822 1953.48 GC AT PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.00 None None None None None None DUSP5|0.355332181|23.78%
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 112327678 2632.73 CC CAC PASS 1/1 67 None None None None None None None None None SMC3|0.940083987|2.48%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 18834797 91.73 TA... TA... PASS 1/1 10 None None None None None None None None None NSUN6|0.06690049|58.17%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 105759749 943.73 ATCT AT... PASS 0/1 33 None None None None None None None None None SLK|0.612576684|11.37%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 105727656 526.73 AAGAG AAG PASS 0/1 35 None None None None None None None None None SLK|0.612576684|11.37%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 18828721 392.73 CAAA CA... PASS 0/1 35 None None None None None None None None None CACNB2|0.445418011|18.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 18795613 100.56 TGC ACT PASS 0/1 21 None None None None None None None None None CACNB2|0.445418011|18.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 104268858 1266.73 AGC AC,AA PASS 0/2 89 None None None None None None None None None SUFU|0.829061661|5.1%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 75053202 520.73 GTTT GTT PASS 0/1 42 None None None None None None None None None CFAP70|0.092854189|52.64%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 18937579 396.73 AA... AA... PASS 0/1 18 None None None None None None None None None NSUN6|0.06690049|58.17%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 18940185 42.0 GT... GT... PASS 0/1 12 None None None None None None None None None NSUN6|0.06690049|58.17%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 112657916 40.75 GT... GT... PASS 0/1 19 None None None None None None None None None PDCD4|0.925395579|2.86%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 74928317 176.73 AGGG AGG PASS 0/1 12 None None None None None None None None None ECD|0.174349852|39.75%,FAM149B1|0.135151937|45.08%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 72509364 168.2 AG... AG... PASS 3/2 9 None None None None None None None None None ADAMTS14|0.04385867|64.56%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 104415093 1104.73 CTG CG PASS 0/1 63 None None None None None None None None None TRIM8|0.61494137|11.29%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 19641239 1064.73 CT... CT... PASS 1/1 11 None None None None None None None None None MALRD1|0.023114919|72.62%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 26825149 17.99 C A PASS 1/1 3 None None None None None None None None None APBB1IP|0.030225745|69.31%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 104415810 2534.73 GC... GCT PASS 0/1 125 None None None None None None None None None TRIM8|0.61494137|11.29%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 26991067 341.73 CGT CT PASS 0/1 22 None None None None None None None None None PDSS1|0.538893405|14.24%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 74886392 946.73 GCC GC PASS 0/1 69 None None None None None None None None None NUDT13|0.121776978|47.18%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 74885409 206.38 TT... TT... PASS 1/2 11 None None None None None None None None None NUDT13|0.121776978|47.18%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 74879757 343.73 GA... GATTT PASS 0/1 16 None None None None None None None None None NUDT13|0.121776978|47.18%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 135270837 910.73 TCCCC TCCC PASS 0/1 64 None None None None None None None None None SPRN|0.004340936|86.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 72532106 1426.73 AT... ATAAA PASS 0/1 64 None None None None None None None None None TBATA|0.008990743|81.69%

TBATA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 72541621 1642.77 G T PASS 0/1 138 SYNONYMOUS_CODING LOW None None None None None None None TBATA|0.008990743|81.69%
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 105428453 2882.73 CA... CA... PASS 1/1 72 None None None None None None None None None SH3PXD2A|0.240518285|32.38%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 72635143 1109.73 AT... AT... PASS 0/1 54 None None None None None None None None None SGPL1|0.324655534|25.82%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 74874097 34.73 CT... CT... PASS 0/1 13 None None None None None None None None None NUDT13|0.121776978|47.18%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 26359200 345.73 TAA TAAA PASS 0/1 36 None None None None None None None None None MYO3A|0.317182273|26.3%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 74237247 496.73 CTA CTTA PASS 0/1 35 None None None None None None None None None MICU1|0.490182281|16.31%

MYO3A
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 26357747 574.96 CG TA PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None None None None None None None MYO3A|0.317182273|26.3%
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 21141440 1889.73 AGGG AGG PASS 1/1 56 None None None None None None None None None NEBL|0.384110937|21.79%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 105254565 727.73 CGTGT CGT PASS 1/1 17 None None None None None None None None None NEURL1|0.384836574|21.72%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 104495560 592.77 G A PASS 0/1 50 None None None None None None None None None SFXN2|0.225894118|33.77%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 73571581 1774.73 CC CCTC PASS 1/1 41 None None None None None None None None None CDH23|0.499757104|15.83%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 26356014 93.33 CA TG PASS 0/1 13 None None None None None None None None None MYO3A|0.317182273|26.3%

C10orf113
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 21435340 580.73 AC... AC PASS 0/1 32 FRAME_SHIFT HIGH None None None None None None None NEBL|0.384110937|21.79%,C10orf113|0.004367738|86.51%
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 21461410 130.73 GA... GA... PASS 0/1 23 None None None None None None None None None NEBL|0.384110937|21.79%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 21660350 54.25 GA... GA... PASS 0/1 4 None None None None None None None None None None

CALHM1
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 105218252 6901.23 AGC GG... PASS 1/2 247 NON_SYNONYMOUS_CODING MODERATE None None None None None None None CALHM1|0.140063286|44.38%

SKIDA1
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 21805466 1367.73 CC... CC... PASS 0/1 30 CODON_INSERTION MODERATE None None None None None None None SKIDA1|0.439515262|18.69%
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 104849738 507.73 TCC TCCC PASS 0/1 34 None None None None None None None None None CNNM2|0.39099659|21.34%,NT5C2|0.724460719|7.86%

SLC29A3
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 73115941 2529.37 TG CA PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE None None None None None None None SLC29A3|0.036742016|66.89%
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 73122409 2102.73 TG... TGAGA PASS 0/1 85 None None None None None None None None None SLC29A3|0.036742016|66.89%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 26310403 662.92 CA TG PASS 0/1 46 None None None None None None None None None MYO3A|0.317182273|26.3%

PCGF6
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 105110740 744.73 AG... AG... PASS 0/1 39 CODON_INSERTION MODERATE None None None None None None None PCGF6|0.176496571|39.45%

CDH23
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 73157033 254.73 CC... CC... PASS 0/1 18 None None None None None None None None None CDH23|0.499757104|15.83%
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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 24918827 120.73 AT... AT... PASS 0/1 14 None None None None None None None None None ARHGAP21|0.073197055|56.74%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 24884779 395.73 GA... GA... PASS 0/1 47 None None None None None None None None None ARHGAP21|0.073197055|56.74%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 24498289 67.81 GA... GA... PASS 1/1 11 None None None None None None None None None KIAA1217|0.163143499|41.11%