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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
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 . 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 . 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 . 6150828 1253.73 GC... GA... PASS 2/2 10 None None None None None None None None None RBM17|0.330513979|25.46%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 32307534 445.73 TAT TA... PASS 2/2 10 None None None None None None None None None KIF5B|0.527503346|14.67%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 114903859 164.9 CT... CT... PASS 2/1 11 None None None None None None None None None TCF7L2|0.99579985|0.77%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 104211800 136.76 AT... AT... PASS 2/1 14 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 106028154 1043.1 GTTG AT... PASS 1/2 41 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs111612004
dbSNP Clinvar 		135487565 80.75 C A,T PASS 1/2 5 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 5804471 110.87 GTTG GT... PASS 1/2 10 None None None None None None None None None FAM208B|0.026162013|71.24%

CALHM1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 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%
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 . 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 . 103753043 108.78 GA... GA... PASS 1/2 8 None None None None None None None None None C10orf76|0.73346918|7.54%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 77312183 59.62 TC... TC... PASS 1/2 10 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 7866268 451.32 CA GG,GA PASS 1/2 18 None None None None None None None None None TAF3|0.283307036|28.85%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 11789511 425.37 CAAGA GA... PASS 1/2 17 None None None None None None None None None ECHDC3|0.029496468|69.61%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 6258015 1420.12 TG CA,CG PASS 1/2 55 None None None None None None None None None PFKFB3|0.234155897|32.99%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 95395245 358.23 CCA TC... PASS 1/2 16 None None None None None None None None None PDE6C|0.166887105|40.7%
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 . 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 . 16737156 491.06 TG... TG... PASS 1/2 34 None None None None None None None None None RSU1|0.403242068|20.58%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 98901434 366.09 GTATT AT... PASS 1/2 19 None None None None None None None None None SLIT1|0.322819079|25.97%,ARHGAP19-SLIT1|0.508518585|15.45%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 134595754 139.75 GT... GT... PASS 1/2 15 None None None None None None None None None INPP5A|0.113063232|48.66%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 97964154 917.01 CGTA TG... PASS 1/2 35 None None None None None None None None None BLNK|0.20887815|35.7%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 97023979 492.66 CACAC TA... PASS 1/2 21 None None None None None None None None None PDLIM1|0.472918408|17.05%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 117856379 611.16 TG... TG... PASS 1/2 28 None None None None None None None None None GFRA1|0.934619361|2.66%

NRP1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 33552695 3192.96 CA TG,CG PASS 1/2 116 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None NRP1|0.938544834|2.53%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 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 . 115412686 783.25 GC AT,AC PASS 1/2 29 None None None None None None None None None NRAP|0.252539154|31.32%

AFAP1L2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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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 . 116085782 1280.73 GCCCA GC... PASS 1/2 101 CODON_INSERTION MODERATE None None None None None None None AFAP1L2|0.092781823|52.66%

GPRIN2
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 . 46999189 7473.69 CA TG,CG PASS 1/2 269 NON_SYNONYMOUS_CODING MODERATE None None None None None None None GPRIN2|0.008107767|82.54%
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 . 94541 1143.68 CGCCC AG... PASS 1/2 40 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 90362307 56.35 CT... CT... PASS 1/2 9 None None None None None None None None None LIPJ|0.007486151|83.09%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 81925795 402.91 CG... TG... PASS 1/2 29 None None None None None None None None None ANXA11|0.080075284|55.15%

GPRIN2
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 . 46999591 5920.19 CA... CA... PASS 1/2 213 NON_SYNONYMOUS_CODING MODERATE None None None None None None None GPRIN2|0.008107767|82.54%
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 . 118466662 1096.18 GC... GC... PASS 1/2 52 None None None None None None None None None HSPA12A|0.32170374|26.03%

C10ORF68
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 rs1762526
dbSNP Clinvar 		32974969 346.77 A G PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.91653 0.91650 0.08776 1.00 0.00 -3.05 None None None None None None None
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 . 92638707 632.73 CAGTA CA... PASS 1/1 12 None None None None None None None None None RPP30|0.317019873|26.31%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2778650
dbSNP Clinvar 		32106851 520.77 A G PASS 1/1 16 None None None 0.50739 0.50740 0.47078 None None None None None None ARHGAP12|0.284417118|28.76%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2738208
dbSNP Clinvar 		38306128 1164.77 A G PASS 1/1 36 None None None 0.78395 0.78390 None None None None None None ZNF33A|0.004191644|86.74%

ARHGAP12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 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 rs2808100
dbSNP Clinvar 		32120678 369.77 C T PASS 1/1 11 SYNONYMOUS_CODING LOW None 0.24181 0.24180 0.17105 None None None None None None ARHGAP12|0.284417118|28.76%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2808096
dbSNP Clinvar 		32128611 1925.77 A G PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.23183 0.23180 0.16877 0.49 0.00 1.88 None None None None None None ARHGAP12|0.284417118|28.76%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2799021
dbSNP Clinvar 		32141460 664.77 T C PASS 1/1 18 SYNONYMOUS_CODING LOW None 0.23183 0.23180 0.16892 None None None None None None ARHGAP12|0.284417118|28.76%
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 rs176924
dbSNP Clinvar 		32311969 321.78 A G PASS 1/1 9 None None None 0.96705 0.96710 0.03229 None None None None None None KIF5B|0.527503346|14.67%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1010929
dbSNP Clinvar 		81266411 4806.77 T C PASS 1/1 125 None None None 0.37939 0.37940 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1250778
dbSNP Clinvar 		81267591 4076.77 C T PASS 1/1 106 None None None 0.37979 0.37980 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 92678740 1281.73 AA... AATA PASS 1/1 17 None None None None None None None None None ANKRD1|0.375758485|22.32%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs11253565
dbSNP Clinvar 		1054007 163.9 G T PASS 1/1 5 None None None 0.07468 0.07468 None None None None None None GTPBP4|0.204407833|36.18%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 81284645 66.45 ACC AC PASS 1/1 3 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs61860491
dbSNP Clinvar 		81284783 21.87 C G PASS 1/1 2 None None None 0.19509 0.19510 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1250962
dbSNP Clinvar 		81286374 2042.55 A C PASS 1/1 68 None None None 0.29852 0.29850 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1250961
dbSNP Clinvar 		81286427 301.04 G C PASS 1/1 13 None None None 0.44689 0.44690 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1250960
dbSNP Clinvar 		81286437 398.71 T G PASS 1/1 15 None None None 0.44728 0.44730 None None None None None None None

HECTD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 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 rs7081569
dbSNP Clinvar 		93170250 4452.77 C G PASS 1/1 129 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 0.12 None None None None None None HECTD2|0.478353371|16.83%
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 . 93170365 3645.73 CGG CG PASS 1/1 101 None None None None None None None None None HECTD2|0.478353371|16.83%

SFTPA2
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 rs1965708
dbSNP Clinvar 		81317045 8300.77 G T PASS 1/1 245 NON_SYNONYMOUS_CODING MODERATE None 0.25479 0.25480 0.25342 1.00 0.00 -2.45 None None None None None None SFTPA2|0.00560902|85.09%

GPRIN2
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 rs3127683
dbSNP Clinvar 		46999604 7185.77 A G PASS 1/1 343 NON_SYNONYMOUS_CODING MODERATE None 0.03934 0.80730 1.00 0.00 None None None None None None GPRIN2|0.008107767|82.54%
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 . 93579003 106.56 CT... CT... PASS 1/1 7 None None None None None None None None None TNKS2|0.624081341|11.01%

SFTPA2
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 rs1965707
dbSNP Clinvar 		81317292 2356.31 G A PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.34884 0.34880 None None None None None None SFTPA2|0.00560902|85.09%

EXOC6
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 rs1326331
dbSNP Clinvar 		94695617 1630.77 C T PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.88858 0.88860 0.22736 1.00 0.00 1.81 None None None None None None EXOC6|0.727371277|7.76%
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 rs1572933
dbSNP Clinvar 		93588201 2721.77 G C PASS 1/1 63 None None None 0.81010 0.81010 0.33016 None None None None None None TNKS2|0.624081341|11.01%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1572934
dbSNP Clinvar 		93588208 2386.77 G A PASS 1/1 50 None None None 0.81010 0.81010 0.32982 None None None None None None TNKS2|0.624081341|11.01%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2986931
dbSNP Clinvar 		32575793 1540.77 A G PASS 1/1 45 None None None 0.59405 0.59400 0.38767 None None None None None None EPC1|0.577103839|12.71%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs17884396
dbSNP Clinvar 		81318621 1099.77 C T PASS 1/1 30 None None None 0.34625 0.34620 0.33382 None None None None None None SFTPA2|0.00560902|85.09%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1650232
dbSNP Clinvar 		81319267 3123.5 C T PASS 1/1 108 None None None 0.01238 0.01238 0.39756 None None None None None None SFTPA2|0.00560902|85.09%

WDR37
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 rs10794716
dbSNP Clinvar 		1142208 3093.77 T C PASS 1/1 86 None None None 0.98762 0.98760 0.00877 0.01 None None None None None None WDR37|0.315194706|26.42%
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 rs1340420
dbSNP Clinvar 		93617306 841.77 A G PASS 1/1 24 None None None 0.81010 0.81010 0.32993 None None None None None None TNKS2|0.624081341|11.01%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs3814640
dbSNP Clinvar 		93702405 1241.77 C T PASS 1/1 33 None None None 0.37081 0.37080 None None None None None None BTAF1|0.83441814|5%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 93719497 119.58 GT... GT... PASS 1/1 9 None None None None None None None None None BTAF1|0.83441814|5%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1711842
dbSNP Clinvar 		93767797 624.77 G A PASS 1/1 18 None None None 0.00060 0.34460 None None None None None None BTAF1|0.83441814|5%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2676802
dbSNP Clinvar 		93771192 325.78 T A PASS 1/1 9 None None None 0.34545 0.34540 0.14753 None None None None None None BTAF1|0.83441814|5%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs17882203
dbSNP Clinvar 		81319400 1600.46 A T PASS 1/1 59 None None None 0.25659 0.25660 None None None None None None SFTPA2|0.00560902|85.09%

CPEB3
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 rs2676811
dbSNP Clinvar 		93841227 1700.77 A G PASS 1/1 53 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CPEB3|0.570636811|12.96%
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 rs1975008
dbSNP Clinvar 		81319423 2144.05 C T PASS 1/1 74 None None None 0.94050 0.94050 None None None None None None SFTPA2|0.00560902|85.09%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs17883613
dbSNP Clinvar 		81319458 2460.69 C T PASS 1/1 80 None None None 0.26937 0.26940 None None None None None None SFTPA2|0.00560902|85.09%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1975007
dbSNP Clinvar 		81319483 2417.77 A G PASS 1/1 72 None None None 0.91933 0.91930 None None None None None None SFTPA2|0.00560902|85.09%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs11253567
dbSNP Clinvar 		1054444 2058.77 A G PASS 1/1 62 None None None 0.16194 0.16190 None None None None None None GTPBP4|0.204407833|36.18%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs34032311
dbSNP Clinvar 		81342369 3216.77 G T PASS 1/1 108 None None None 0.00300 0.00300 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2678654
dbSNP Clinvar 		81342469 323.64 A G PASS 1/1 13 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs3855862
dbSNP Clinvar 		81343036 1583.88 G A PASS 1/1 59 None None None 0.93451 0.93450 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs4253511
dbSNP Clinvar 		81371049 3464.77 C T PASS 1/1 92 None None None 0.15875 0.15870 None None None None None None SFTPA1|0.006227543|84.37%

SFTPA1
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 rs72659390
dbSNP Clinvar 		81371698 5374.77 C T PASS 1/1 164 SYNONYMOUS_CODING LOW None 0.15096 0.15100 None None None None None None SFTPA1|0.006227543|84.37%
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 rs1054053
dbSNP Clinvar 		81682645 6651.77 A G PASS 1/1 194 None None None 0.74401 0.74400 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2490505
dbSNP Clinvar 		32742256 1112.77 T G PASS 1/1 29 None None None 0.79713 0.79710 0.16205 None None None None None None CCDC7|0.005449004|85.28%

GPAM
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 rs2277207
dbSNP Clinvar 		113920465 5011.77 G A PASS 1/1 133 SYNONYMOUS_CODING LOW None 0.55351 0.55350 0.44157 None None None None None None GPAM|0.215163179|34.97%
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 rs1980869
dbSNP Clinvar 		112764594 767.77 T C PASS 1/1 20 None None None 0.84325 0.84330 0.17745 None None None None None None SHOC2|0.804300841|5.7%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1250991
dbSNP Clinvar 		81374651 988.77 C T PASS 1/1 26 None None None 0.66853 0.66850 None None None None None None SFTPA1|0.006227543|84.37%

GPRIN2
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 rs3127822
dbSNP Clinvar 		47000004 5278.77 T C PASS 1/1 340 NON_SYNONYMOUS_CODING MODERATE None 0.94589 0.94590 0.04859 1.00 0.00 None None None None None None GPRIN2|0.008107767|82.54%
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 rs2297991
dbSNP Clinvar 		113913222 717.77 T C PASS 1/1 20 None None None 0.73063 0.73060 None None None None None None GPAM|0.215163179|34.97%

NUTM2B
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 rs451438
dbSNP Clinvar 		81472107 34.19 T C PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.63 0.00 -1.88 0.00 0.05548 T None None None None NUTM2B|0.000639797|97.61%

GPAM
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 rs2254537
dbSNP Clinvar 		113917085 2727.77 T A PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.75759 0.75760 0.27879 None None None None None None GPAM|0.215163179|34.97%
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 rs3824626
dbSNP Clinvar 		113920652 2242.77 T C PASS 1/1 64 None None None 0.55411 0.55410 0.44094 None None None None None None GPAM|0.215163179|34.97%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2250802
dbSNP Clinvar 		113921354 2550.77 G A PASS 1/1 72 None None None 0.80970 0.80970 None None None None None None GPAM|0.215163179|34.97%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs10736219
dbSNP Clinvar 		113923595 1017.77 C G PASS 1/1 27 None None None 0.55312 0.55310 0.44333 None None None None None None GPAM|0.215163179|34.97%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2803613
dbSNP Clinvar 		113925940 232.78 C T PASS 1/1 8 None None None 0.97903 0.97900 None None None None None None GPAM|0.215163179|34.97%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs10749108
dbSNP Clinvar 		113926012 478.77 G A PASS 1/1 14 None None None 0.55351 0.55350 None None None None None None GPAM|0.215163179|34.97%

GPAM
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 rs10787428
dbSNP Clinvar 		113935379 1879.77 T C PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.55471 0.55470 0.44072 0.03 0.06 4.43 None None None None None None GPAM|0.215163179|34.97%
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 rs2487294
dbSNP Clinvar 		113937941 689.77 G T,A PASS 1/1 21 None None None 0.78754 0.78750 None None None None None None GPAM|0.215163179|34.97%

GPAM
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 rs2792751
dbSNP Clinvar 		113940329 1644.77 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.80691 0.80690 0.21905 1.00 0.00 -1.79 None None None None None None GPAM|0.215163179|34.97%
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 rs373574710
dbSNP Clinvar 		81610371 466.93 G A PASS 1/1 22 None None None 0.50000 0.50000 None None None None None None NUTM2E|0.000952793|95.77%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs10904597
dbSNP Clinvar 		1055271 1322.77 C T PASS 1/1 42 None None None 0.07987 0.07987 None None None None None None GTPBP4|0.204407833|36.18%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2244153
dbSNP Clinvar 		32745396 156.9 A G PASS 1/1 5 None None None 0.91853 0.91850 None None None None None None CCDC7|0.005449004|85.28%