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+ Genes 232

Genes:
ABCA7, ABCC8, ADAMTS16, ADCYAP1, AFG3L2, ALDH16A1, ALDH9A1, ALOXE3, ALPL, AMACR, AMH, ANKRD9, ANKS4B, APOBEC3B, AQP3, AQP7, ARFRP1, ARHGEF11, ARVCF, ASGR2, ASPM, ATP2B4, ATP6V1G2-DDX39B, ATXN1, BCAM, BTN1A1, C1QL1, C1orf111, C3, C4A, C6orf222, C6orf47, C7orf60, C9, CACNA1E, CCNA2, CCT5, CD151, CD72, CDC42BPG, CDH12, CDH7, CDK10, CEACAM19, CER1, CFTR, CHRD, CIDEA, CLCN7, CLTCL1, CLUL1, COG7, COL4A3BP, COL6A3, DDX58, DNAH11, DNAH5, DNAI1, DOCK8, DRD4, DSP, DTNBP1, ECE1, ELANE, ELAVL2, ELMO2, EMC10, EXOSC3, FAM151A, FANCE, FBXO10, FGFR3, FLII, FNBP1L, FOXC1, FOXF2, FREM1, FUK, FUT3, FUT6, FYCO1, GAB3, GABARAPL1, GCNT2, GHR, GLDC, GLI4, GML, GOLGA2, GOLGA6L2, GPX4, GRHPR, GTPBP1, GUCY2C, HAS3, HAUS5, HCN2, HES2, HFE, HIP1R, HMCN1, HMHA1, HTR5A, HTT, HUS1B, IBA57, IFFO2, IFITM3, IFITM5, IFNA10, IFNA17, IL7R, INSR, INSRR, IRF7, IRX4, JAK2, KANK1, KCNV2, KDM4C, KIAA0319, KIAA1432, KISS1R, KLB, KLC2, KLHL9, KMT2A, KRT9, LAMA1, LARS2, LEPREL2, LIAS, LIFR, LILRB2, LLGL1, LMNB2, MAFA, MCAM, MCM7, MPP1, MUC2, MUC6, MYOM1, NDUFS7, NDUFV2, NEDD9, NELFCD, NEU1, NHLRC1, NR1H3, NR4A1, NUB1, NUDT8, NUP155, OAZ1, OR2H2, OR6V1, OXCT1, PAX5, PCDHGC3, PDE6C, PDHA1, PIEZO2, PIWIL2, PKD1L1, PLEKHH3, PLEKHM2, PLIN4, PLXNA3, PNPLA2, POLR2A, POLR2E, POLRMT, PPP2R5D, PRDM9, PRKG1, PRX, PSMC3, PTPN6, RAB1B, RAPGEF3, RP11-302B13.5, RPS15, RSPH10B, SCARA3, SDHA, SH3GL1, SHMT2, SHPK, SIGLEC7, SIRT5, SLC17A3, SLC1A1, SLC24A2, SLC25A22, SLC39A7, SLC6A5, SMARCA2, SPTA1, SRCAP, STK36, SURF6, SUSD1, TAF1L, TAS2R13, TBXA2R, TEK, TICAM1, TLR7, TMEM204, TNFRSF6B, TNFSF14, TNXB, TOPORS, TRIO, TRIT1, TRPC1, TRPM7, TRPV1, TUBB2B, TYRO3, UQCC2, USP47, UTP20, UTS2R, VCP, VLDLR, WDFY4, WNT3A, ZER1, ZNF106, ZNF564,

+ Genes associated with diseases 107

Genes at Omim

ABCA7, ABCC8, AFG3L2, ALOXE3, ALPL, AMACR, AMH, AQP3, AQP7, ASPM, ATXN1, C3, C4A, C9, CACNA1E, CCT5, CD151, CDK10, CFTR, CLCN7, COG7, COL4A3BP, COL6A3, DDX58, DNAH11, DNAH5, DNAI1, DOCK8, DRD4, DSP, DTNBP1, ECE1, ELANE, ELMO2, EXOSC3, FANCE, FGFR3, FOXC1, FREM1, FUT3, FUT6, FYCO1, GCNT2, GHR, GLDC, GPX4, GRHPR, GUCY2C, HFE, HMCN1, HTT, IBA57, IFITM3, IFITM5, IL7R, INSR, IRF7, JAK2, KANK1, KCNV2, KISS1R, KLC2, KMT2A, KRT9, LAMA1, LARS2, LIAS, LIFR, LMNB2, MAFA, NDUFS7, NDUFV2, NEU1, NHLRC1, NUP155, OXCT1, PAX5, PDE6C, PDHA1, PIEZO2, PKD1L1, PNPLA2, PPP2R5D, PRKG1, PRX, SDHA, SH3GL1, SHPK, SLC17A3, SLC1A1, SLC25A22, SLC6A5, SMARCA2, SPTA1, SRCAP, TBXA2R, TEK, TICAM1, TNXB, TOPORS, TRIO, TRIT1, TRPM7, TUBB2B, UQCC2, VCP, VLDLR,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
AFG3L2 Spastic ataxia 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
AQP3 [Blood group GIL], 607457 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
C9 C9 deficiency, 613825 (3)
{Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
CACNA1E Epileptic encephalopathy, early infantile, 69, 618285 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CDK10 Al Kaissi syndrome, 617694 (3)
CFTR {Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
COG7 Congenital disorder of glycosylation, type IIe, 608779 (3)
COL4A3BP Mental retardation, autosomal dominant 34, 616351 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
DDX58 Singleton-Merten syndrome 2, 616298 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DRD4 Autonomic nervous system dysfunction (3)
[Novelty seeking personality], 601696 (1)
{Attention deficit-hyperactivity disorder}, 143465 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DTNBP1 Hermansky-Pudlak syndrome 7, 614076 (3)
ECE1 {Hypertension, essential, susceptibility to}, 145500 (3)
?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
ELANE Neutropenia, cyclic, 162800 (3)
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
ELMO2 Vascular malformation, primary intraosseous, 606893 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FOXC1 Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)
Axenfeld-Rieger syndrome, type 3, 602482 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GCNT2 Adult i phenotype without cataract, 110800 (3)
Cataract 13 with adult i phenotype, 116700 (3)
[Blood group, Ii], 110800 (3)
GHR {Hypercholesterolemia, familial, modifier of}, 143890 (3)
Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone, 604271 (3)
Laron dwarfism, 262500 (3)
GLDC Glycine encephalopathy, 605899 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
HFE Hemochromatosis, 235200 (3)
{Microvascular complications of diabetes 7}, 612635 (3)
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
{Porphyria variegata, susceptibility to}, 176200 (3)
[Transferrin serum level QTL2], 614193 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IBA57 Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)
?Spastic paraplegia 74, autosomal recessive, 616451 (3)
IFITM3 {Influenza, severe, susceptibility to}, 614680 (3)
IFITM5 Osteogenesis imperfecta, type V, 610967 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (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)
IRF7 ?Immunodeficiency 39, 616345 (3)
JAK2 Leukemia, acute myeloid, somatic, 601626 (3)
Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600880 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNV2 Retinal cone dystrophy 3B, 610356 (3)
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)
?Precocious puberty, central, 1, 176400 (3)
KLC2 Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3)
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage (2)
Wiedemann-Steiner syndrome, 605130 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
Perrault syndrome 4, 615300 (3)
LIAS Hyperglycinemia, lactic acidosis, and seizures, 614462 (3)
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LMNB2 {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
?Epilepsy, progressive myoclonic, 9, 616540 (3)
MAFA Insulinomatosis and diabetes mellitus, 147630 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NDUFV2 Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NEU1 Sialidosis, type I, 256550 (3)
Sialidosis, type II, 256550 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NUP155 ?Atrial fibrillation 15, 615770 (3)
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PPP2R5D Mental retardation, autosomal dominant 35, 616355 (3)
PRKG1 Aortic aneurysm, familial thoracic 8, 615436 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SHPK [Sedoheptulokinase deficiency], 617213 (3)
SLC17A3 {Gout susceptibility 4}, 612671 (3)
[Uric acid concentration, serum, QTL4], 612671 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC25A22 Epileptic encephalopathy, early infantile, 3, 609304 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
SRCAP Floating-Harbor syndrome, 136140 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TOPORS Retinitis pigmentosa 31, 609923 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
TRIT1 Combined oxidative phosphorylation deficiency 35, 617873 (3)
TRPM7 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
TUBB2B Cortical dysplasia, complex, with other brain malformations 7, 610031 (3)
UQCC2 Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)
Charcot-Marie-Tooth disease, type 2Y, 616687 (3)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)
VLDLR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)

Genes at Clinical Genomics Database

ABCC8, AFG3L2, ALOXE3, ALPL, AMACR, AMH, AQP3, ASPM, ATXN1, BCAM, C3, C4A, C9, CCT5, CD151, CFTR, CLCN7, COG7, COL4A3BP, COL6A3, DDX58, DNAH11, DNAH5, DNAI1, DOCK8, DSP, DTNBP1, ECE1, ELANE, EXOSC3, FANCE, FGFR3, FOXC1, FREM1, FUT3, FUT6, FYCO1, GCNT2, GHR, GLDC, GPX4, GRHPR, GUCY2C, HFE, HMCN1, HTT, IBA57, IFITM5, IL7R, INSR, IRF7, JAK2, KANK1, KCNV2, KISS1R, KLC2, KMT2A, KRT9, LAMA1, LARS2, LIAS, LIFR, LMNB2, NDUFS7, NDUFV2, NEU1, NHLRC1, NUP155, OXCT1, PAX5, PDE6C, PDHA1, PIEZO2, PNPLA2, PPP2R5D, PRKG1, PRX, SDHA, SLC1A1, SLC25A22, SLC6A5, SMARCA2, SPTA1, SRCAP, TBXA2R, TEK, TICAM1, TNXB, TOPORS, TUBB2B, UQCC2, VCP, VLDLR,
ABCC8 Diabetes mellitus, transient neonatal, 2
Diabetes, permanent neonatal
Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia, leucine-induced
AFG3L2 Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
ALPL Hypophosphatasia, infantile
Odontohypophosphatasia
AMACR Bile acid synthesis defect, congenital, 4
Alpha-methylacyl-CoA racemase deficiency
AMH Persistent Mullerian duct syndrome, type I
AQP3 Blood group, GIL
ASPM Microcephaly, primary autosomal recessive, 5
ATXN1 Spinocerebellar ataxia 1
BCAM Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
C4A Blood group, Chido/Rodgers system
C9 Complement component 9 deficiency
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CD151 Raph blood group
CFTR Cystic fibrosis
CLCN7 Osteopetrosis, autosomal dominant 2
Osteopetrosis, autosomal recessive 4
COG7 Congenital disorder of glycosylation, type IIe
COL4A3BP Mental retardation, autosomal dominant 34
COL6A3 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
Dystonia 27
DDX58 Singleton-Merten syndrome 2
DNAH11 Ciliary dyskinesia, primary, 7
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI1 Ciliary dyskinesia, primary, 1
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DTNBP1 Hermansky-Pudlak syndrome 7
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
ELANE Neutropenia, severe congenital 1, autosomal dominant
Neutropenia, cyclic
EXOSC3 Pontocerebellar hypoplasia type 1B
FANCE Fanconi anemia, complementation group E
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
FOXC1 Peters anomaly
Axenfeld-Rieger syndrome, type 3
Iridogoiodysgenesis, type 1
FREM1 Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
FYCO1 Cataract, autosomal recessive congenital 2
GCNT2 Blood group, Ii
Adult i phenotype without cataract
Cataract 13 with adult i phenotype
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GLDC Glycine encephalopathy
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GRHPR Hyperoxaluria, primary, type II
GUCY2C Diarrhea 6
Meconium ileus
HFE Hemochromatosis
HMCN1 Macular degeneration, age-related, 1
HTT Huntington disease
IBA57 Multiple mitochondrial dysfunctions syndrome 3
Spastic paraplegia 74, autosomal recessive
IFITM5 Osteogenesis imperfecta, type V
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
IRF7 Immunodeficiency 39
JAK2 Thrombocythemia 3
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNV2 Retinal cone dystrophy 3B
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
KLC2 Spastic paraplegia, optic atrophy, and neuropathy
KMT2A Wiedemann-Steiner syndrome
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
LAMA1 Poretti-Boltshauser syndrome
LARS2 Perrault syndrome 4
LIAS Pyruvate dehydrogensae lipoic acid synthetase deficiency
LIFR Stuve-Wiedemann syndrome
LMNB2 Liopdystrophy, partial, acquired
Epilepsy, progressive myoclonic, 9
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NDUFV2 Mitochondrial complex I deficiency
NEU1 Sialidosis, type I
Sialidosis, type II
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NUP155 Atrial fibrillation 15
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
PAX5 Pre-B cell acute lymphoblastic leukemia
PDE6C Cone dystrophy 4
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome, X-linked
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PNPLA2 Neutral lipid storage disease with myopathy
PPP2R5D Mental retardation, autosomal dominant 35
PRKG1 Aortic aneurysm, familial thoracic 8
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
SDHA Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SLC1A1 Dicarboxylic aminoaciduria
SLC25A22 Epileptic encephalopathy, early infantile, 3
SLC6A5 Hyperekplexia 3
SMARCA2 Nicolaides-Baraitser syndrome
SPTA1 Spherocytosis, type 3
Pyropoikilocytosis , hereditary
Ellipsocytosis 2
SRCAP Floating-Harbor syndrome
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TEK Venous malformations, multiple cutaneous and mucosal
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TOPORS Retitinis pigmentosa 31
TUBB2B Polymicrogyria, asymmetric
UQCC2 Mitochondrial complex III deficiency, nuclear type 7
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
Charcot-Marie-Tooth disease type, axonal type, 2Y
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
VLDLR Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1

Genes at HGMD

Summary

Number of Variants: 8483
Number of Genes: 232

Export to: CSV

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 552217_ngs_ex annotated mendelmd 19 . 1049270 0.0 G A PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.33 0.15 None None None None None None ABCA7|0.007770288|82.8%
View 552217_ngs_ex annotated mendelmd 19 . 1047162 0.0 A G PASS 0/1 114 SYNONYMOUS_CODING LOW None None None None None None None ABCA7|0.007770288|82.8%
View 552217_ngs_ex annotated mendelmd 19 . 1047003 0.0 A G PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ABCA7|0.007770288|82.8%

ABCC8
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 552217_ngs_ex annotated mendelmd 11 . 17498195 0.0 C G sbF 0/1 39 SYNONYMOUS_CODING LOW None None None None None None None ABCC8|0.967482639|1.79%

ADAMTS16
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 552217_ngs_ex annotated mendelmd 5 . 5239808 0.0 C T PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.79 None None None None None None ADAMTS16|0.017832591|75.4%
View 552217_ngs_ex annotated mendelmd 5 . 5146282 0.0 A G PASS 0/1 107 SYNONYMOUS_CODING LOW None None None None None None None ADAMTS16|0.017832591|75.4%
View 552217_ngs_ex annotated mendelmd 5 . 5239889 0.0 C A PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.41 0.06 None None None None None None ADAMTS16|0.017832591|75.4%
View 552217_ngs_ex annotated mendelmd 5 . 5146264 0.0 T C sbF 0/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.07 1.00 None None None None None None ADAMTS16|0.017832591|75.4%

ADCYAP1
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 552217_ngs_ex annotated mendelmd 18 . 909560 0.0 A G PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.61 None None None None None None ADCYAP1|0.147854671|43.32%
View 552217_ngs_ex annotated mendelmd 18 . 907674 0.0 G A PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.10 None None None None None None ADCYAP1|0.147854671|43.32%

AFG3L2
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 552217_ngs_ex annotated mendelmd 18 . 12348286 0.0 T C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.94 None None None None None None AFG3L2|0.258891122|30.83%
View 552217_ngs_ex annotated mendelmd 18 . 12351343 0.0 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None AFG3L2|0.258891122|30.83%

ALDH16A1
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 552217_ngs_ex annotated mendelmd 19 . 49973614 0.0 C G PASS 0/1 80 SYNONYMOUS_CODING LOW None None None None None None None ALDH16A1|0.021103617|73.62%

ALDH9A1
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 552217_ngs_ex annotated mendelmd 1 . 165649842 0.0 C T sbF 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ALDH9A1|0.055569137|61.04%

ALOXE3
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 552217_ngs_ex annotated mendelmd 17 . 8012602 0.0 G A PASS 0/1 30 SYNONYMOUS_CODING LOW None None None None None None None ALOXE3|0.073088496|56.77%

ALPL
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 552217_ngs_ex annotated mendelmd 1 . 21890615 0.0 G A PASS 1/1 61 SYNONYMOUS_CODING LOW None None None None None None None ALPL|0.999977593|0.11%
View 552217_ngs_ex annotated mendelmd 1 . 21887634 0.0 A G PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ALPL|0.999977593|0.11%

AMACR
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 552217_ngs_ex annotated mendelmd 5 . 33998778 0.0 A G PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.92 None None None None None None AMACR|0.038358163|66.34%
View 552217_ngs_ex annotated mendelmd 5 . 34007995 0.0 C T PASS 0/1 73 SYNONYMOUS_CODING LOW None None None None None None None AMACR|0.038358163|66.34%
View 552217_ngs_ex annotated mendelmd 5 . 33989413 0.0 C T PASS 1/1 112 SYNONYMOUS_CODING LOW None None None None None None None AMACR|0.038358163|66.34%

AMH
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 552217_ngs_ex annotated mendelmd 19 . 2251818 0.0 T C PASS 1/1 69 SYNONYMOUS_CODING LOW None None None None None None None AMH|0.062219269|59.26%
View 552217_ngs_ex annotated mendelmd 19 . 2251513 0.0 T A PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.52 0.02 None None None None None None AMH|0.062219269|59.26%
View 552217_ngs_ex annotated mendelmd 19 . 2249478 0.0 G T PASS 1/1 67 SYNONYMOUS_CODING LOW None None None None None None None AMH|0.062219269|59.26%

ANKRD9
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 552217_ngs_ex annotated mendelmd 14 . 102974136 0.0 G C PASS 1/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.05 None None None None None None ANKRD9|0.023646247|72.35%

ANKS4B
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 552217_ngs_ex annotated mendelmd 16 . 21261270 0.0 G C PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ANKS4B|0.081800274|54.79%,CRYM|0.245016591|32%

APOBEC3B
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 552217_ngs_ex annotated mendelmd 22 . 39381817 0.0 C CCAA PASS 1/1 68 CODON_CHANGE_PLUS_CODON_INSERTION+SPLICE_SITE_REGION MODERATE None None None None None None None APOBEC3B|0.000325736|99.32%

AQP3
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 552217_ngs_ex annotated mendelmd 9 . 33442954 0.0 G A PASS 1/1 75 SYNONYMOUS_CODING LOW None None None None None None None AQP3|0.497451011|15.96%
View 552217_ngs_ex annotated mendelmd 9 . 33447426 0.0 C G sbF 1/1 59 SYNONYMOUS_CODING LOW None None None None None None None AQP3|0.497451011|15.96%

AQP7
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 552217_ngs_ex annotated mendelmd 9 . 33395198 0.0 A G PASS 1/1 57 None None None None None None None None None AQP7|0.012677613|78.76%

ARFRP1
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 552217_ngs_ex annotated mendelmd 20 . 62338071 0.0 A G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None ARFRP1|0.101604996|50.84%
View 552217_ngs_ex annotated mendelmd 20 . 62332619 0.0 G A sbF 1/1 63 None None None None None None None None None ARFRP1|0.101604996|50.84%
View 552217_ngs_ex annotated mendelmd 20 . 62332725 0.0 G C PASS 0/1 92 None None None None None None None None None ARFRP1|0.101604996|50.84%

ARHGEF11
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 552217_ngs_ex annotated mendelmd 1 . 156913754 0.0 A G PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.85 None None None None None None ARHGEF11|0.107056542|49.78%

ARVCF
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 552217_ngs_ex annotated mendelmd 22 . 19968739 0.0 G GC PASS 1/1 25 FRAME_SHIFT HIGH None None None None None None None ARVCF|0.083030294|54.56%

ASGR2
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 552217_ngs_ex annotated mendelmd 17 . 7010333 0.0 G A PASS 1/1 41 SYNONYMOUS_CODING LOW None None None None None None None ASGR2|0.003649861|87.52%

ASPM
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 552217_ngs_ex annotated mendelmd 1 . 197061071 0.0 T C PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.99 None None None None None None ASPM|0.161871432|41.31%

ATP2B4
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 552217_ngs_ex annotated mendelmd 1 . 203683316 0.0 A G PASS 1/1 132 SYNONYMOUS_CODING LOW None None None None None None None ATP2B4|0.129216879|45.98%

ATP6V1G2-DDX39B
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 552217_ngs_ex annotated mendelmd 6 . 31509904 0.0 A G PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.28 0.00 None None None None None None DDX39B|0.561131797|13.31%

ATXN1
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 552217_ngs_ex annotated mendelmd 6 . 16327684 0.0 A C PASS 0/1 113 SYNONYMOUS_CODING LOW None None None None None None None ATXN1|0.832563526|5.05%
View 552217_ngs_ex annotated mendelmd 6 . 16327633 0.0 G GTGC sbF 0/1 110 CODON_INSERTION MODERATE None None None None None None None ATXN1|0.832563526|5.05%
View 552217_ngs_ex annotated mendelmd 6 . 16306627 0.0 G A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ATXN1|0.832563526|5.05%
View 552217_ngs_ex annotated mendelmd 6 . 16327384 0.0 A G PASS 1/1 71 SYNONYMOUS_CODING LOW None None None None None None None ATXN1|0.832563526|5.05%
View 552217_ngs_ex annotated mendelmd 6 . 16327675 0.0 CTGA C PASS 0/1 82 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATXN1|0.832563526|5.05%

BCAM
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 552217_ngs_ex annotated mendelmd 19 . 45315577 0.0 A G PASS 1/1 66 SYNONYMOUS_CODING LOW None None None None None None None BCAM|0.011093426|79.98%

BTN1A1
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 552217_ngs_ex annotated mendelmd 6 . 26505175 0.0 C A PASS 0/1 67 SYNONYMOUS_CODING LOW None None None None None None None BTN1A1|0.010791735|80.28%

C1orf111
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 552217_ngs_ex annotated mendelmd 1 . 162343945 0.0 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.55 None None None None None None NOS1AP|0.368787002|22.78%,C1orf226|0.034731923|67.54%,C1orf111|0.035704326|67.23%

C1QL1
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 552217_ngs_ex annotated mendelmd 17 . 43045257 0.0 C A PASS 0/1 48 STOP_GAINED HIGH None None None None None None None C1QL1|0.127695322|46.23%

C3
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 552217_ngs_ex annotated mendelmd 19 . 6690731 0.0 A G PASS 0/1 57 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21 0.03 None None None None None None C3|0.038713281|66.19%
View 552217_ngs_ex annotated mendelmd 19 . 6681980 0.0 G A sbF 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None C3|0.038713281|66.19%
View 552217_ngs_ex annotated mendelmd 19 . 6690735 0.0 A G PASS 0/1 56 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None C3|0.038713281|66.19%
View 552217_ngs_ex annotated mendelmd 19 . 6702587 0.0 G A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.16 None None None None None None C3|0.038713281|66.19%
View 552217_ngs_ex annotated mendelmd 19 . 6709837 0.0 C T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.18 0.01 None None None None None None C3|0.038713281|66.19%
View 552217_ngs_ex annotated mendelmd 19 . 6690733 0.0 A G PASS 0/1 58 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None C3|0.038713281|66.19%
View 552217_ngs_ex annotated mendelmd 19 . 6697395 0.0 A G sbF 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.24 0.00 None None None None None None C3|0.038713281|66.19%

C4A
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 552217_ngs_ex annotated mendelmd 6 . 31961237 0.0 A C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None C4A|0.012992445|78.51%
View 552217_ngs_ex annotated mendelmd 6 . 31968891 0.0 T C PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 None None None None None None C4A|0.012992445|78.51%

C6orf222
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 552217_ngs_ex annotated mendelmd 6 . 36293081 0.0 C T PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.18 0.65 None None None None None None C6orf222|0.001542596|92.56%

C6orf47
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 552217_ngs_ex annotated mendelmd 6 . 31626851 0.0 T A PASS 0/1 71 STOP_GAINED HIGH None None None None None None None C6orf47|0.057785703|60.46%

C7orf60
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 552217_ngs_ex annotated mendelmd 7 . 112462300 0.0 T G PASS 0/1 65 SYNONYMOUS_CODING LOW None None None None None None None C7orf60|0.553008383|13.59%

C9
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 552217_ngs_ex annotated mendelmd 5 rs779251528
dbSNP Clinvar 		39342206 0.0 C T PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None C9|0.0053859|85.32%

CACNA1E
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 552217_ngs_ex annotated mendelmd 1 . 181732663 0.0 T A PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None CACNA1E|0.552106709|13.63%

CCNA2
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 552217_ngs_ex annotated mendelmd 4 . 122743764 0.0 A G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.23 0.00 None None None None None None CCNA2|0.718963702|7.99%

CCT5
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 552217_ngs_ex annotated mendelmd 5 . 10262628 0.0 C A PASS 1/1 25 SYNONYMOUS_CODING LOW None None None None None None None CCT5|0.365250197|23.05%

CD151
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 552217_ngs_ex annotated mendelmd 11 rs1130663
dbSNP Clinvar 		837582 0.0 G A PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.64217 0.64220 0.36542 None None None None None None CD151|0.194924934|37.28%,POLR2L|0.30502837|27.25%

CD72
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 552217_ngs_ex annotated mendelmd 9 . 35612981 0.0 G A PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None CD72|0.003265069|88.17%

CDC42BPG
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 552217_ngs_ex annotated mendelmd 11 . 64607727 0.0 G T PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None CDC42BPG|0.040902186|65.46%

CDH12
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 552217_ngs_ex annotated mendelmd 5 . 21751941 0.0 A G PASS 1/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.68 None None None None None None CDH12|0.569953447|12.98%
View 552217_ngs_ex annotated mendelmd 5 . 21751947 0.0 A G sbF 1/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.66 None None None None None None CDH12|0.569953447|12.98%
View 552217_ngs_ex annotated mendelmd 5 . 21817138 0.0 A G PASS 0/1 68 SYNONYMOUS_CODING LOW None None None None None None None CDH12|0.569953447|12.98%

CDH7
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 552217_ngs_ex annotated mendelmd 18 . 63489373 0.0 G C sbF 1/1 27 SYNONYMOUS_CODING LOW None None None None None None None CDH7|0.157743367|41.9%

CDK10
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 552217_ngs_ex annotated mendelmd 16 . 89762029 0.0 A G PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None CDK10|0.099233006|51.33%

CEACAM19
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 552217_ngs_ex annotated mendelmd 19 . 45179566 0.0 G A PASS 0/1 47 SYNONYMOUS_CODING LOW None None None None None None None CEACAM19|0.005460316|85.26%

CER1
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 552217_ngs_ex annotated mendelmd 9 . 14720363 0.0 T C PASS 0/1 78 SYNONYMOUS_CODING LOW None None None None None None None CER1|0.039368778|65.99%
View 552217_ngs_ex annotated mendelmd 9 . 14722479 0.0 G C PASS 0/1 103 SYNONYMOUS_CODING LOW None None None None None None None CER1|0.039368778|65.99%

CFTR
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 552217_ngs_ex annotated mendelmd 7 . 117170983 0.0 T C PASS 0/1 76 SYNONYMOUS_CODING LOW None None None None None None None CFTR|0.947527653|2.33%

CHRD
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 552217_ngs_ex annotated mendelmd 3 . 184105788 0.0 T C sbF 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.27 0.17 None None None None None None EIF2B5|0.736636231|7.47%,CHRD|0.912759797|3.17%

CIDEA
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 552217_ngs_ex annotated mendelmd 18 . 12274105 0.0 G T sbF 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None CIDEA|0.01791692|75.33%

CLCN7
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 552217_ngs_ex annotated mendelmd 16 . 1524862 0.0 G A PASS 1/1 118 SYNONYMOUS_CODING LOW None None None None None None None CLCN7|0.061996172|59.31%

CLTCL1
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 552217_ngs_ex annotated mendelmd 22 . 19196584 0.0 T C PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.03 1.00 None None None None None None CLTCL1|0.022666116|72.86%

CLUL1
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 552217_ngs_ex annotated mendelmd 18 rs765777001
dbSNP Clinvar 		645050 0.0 C T PASS 0/1 79 SYNONYMOUS_CODING LOW None None None None None None None None

COG7
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 552217_ngs_ex annotated mendelmd 16 . 23445969 0.0 TA T PASS 0/1 16 FRAME_SHIFT HIGH None None None None None None None COG7|0.033337163|68.01%

COL4A3BP
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 552217_ngs_ex annotated mendelmd 5 . 74685445 0.0 T C PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.91 None None None None None None COL4A3BP|0.526131539|14.73%

COL6A3
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 552217_ngs_ex annotated mendelmd 2 . 238256995 0.0 C T PASS 0/1 87 SYNONYMOUS_CODING LOW None None None None None None None COL6A3|0.068829768|57.76%

DDX58
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 552217_ngs_ex annotated mendelmd 9 . 32457191 0.0 T C PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.76 0.05 None None None None None None DDX58|0.150707503|42.88%

DNAH11
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 552217_ngs_ex annotated mendelmd 7 . 21784504 0.0 G A PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.42 0.04 None None None None None None DNAH11|0.38215847|21.9%
View 552217_ngs_ex annotated mendelmd 7 . 21600743 0.0 T C sbF 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.83 None None None None None None DNAH11|0.38215847|21.9%
View 552217_ngs_ex annotated mendelmd 7 . 21600787 0.0 A G sbF 1/1 66 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None None None None None None None DNAH11|0.38215847|21.9%

DNAH5
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 552217_ngs_ex annotated mendelmd 5 . 13867994 0.0 TA T PASS 0/1 19 FRAME_SHIFT HIGH None None None None None None None DNAH5|0.235040337|32.91%
View 552217_ngs_ex annotated mendelmd 5 . 13776582 0.0 C A PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None DNAH5|0.235040337|32.91%
View 552217_ngs_ex annotated mendelmd 5 . 13762863 0.0 T C PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.49 None None None None None None DNAH5|0.235040337|32.91%
View 552217_ngs_ex annotated mendelmd 5 . 13844998 0.0 A G PASS 0/1 56 SYNONYMOUS_CODING LOW None None None None None None None DNAH5|0.235040337|32.91%
View 552217_ngs_ex annotated mendelmd 5 . 13864619 0.0 C A PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.97 None None None None None None DNAH5|0.235040337|32.91%
View 552217_ngs_ex annotated mendelmd 5 . 13701416 0.0 T C PASS 0/1 66 SYNONYMOUS_CODING LOW None None None None None None None DNAH5|0.235040337|32.91%
View 552217_ngs_ex annotated mendelmd 5 . 13865871 0.0 T C sbF 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.16 None None None None None None DNAH5|0.235040337|32.91%
View 552217_ngs_ex annotated mendelmd 5 . 13894785 0.0 T A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.73 0.16 None None None None None None DNAH5|0.235040337|32.91%
View 552217_ngs_ex annotated mendelmd 5 . 13829690 0.0 G A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.47 0.36 None None None None None None DNAH5|0.235040337|32.91%
View 552217_ngs_ex annotated mendelmd 5 . 13701427 0.0 T C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None DNAH5|0.235040337|32.91%

DNAI1
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 552217_ngs_ex annotated mendelmd 9 . 34500823 0.0 G A PASS 0/1 46 SYNONYMOUS_CODING LOW None None None None None None None DNAI1|0.605349786|11.63%

DOCK8
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 552217_ngs_ex annotated mendelmd 9 rs529208
dbSNP Clinvar 		286593 0.0 C A PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.52975 0.52980 0.46425 0.01 0.46 None None None None None None None
View 552217_ngs_ex annotated mendelmd 9 rs2039045
dbSNP Clinvar 		312124 0.0 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.16434 0.16430 0.21675 None None None None None None None