SIB Swiss Institute of Bioinformatics

General information

SIB Swiss Institute of Bioinformatics

1, rue Michel Servet
Geneva
Switzerland - 1211
http://www.sib.swiss/
Organization ID: 506146

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 271

Gene

GeneSubmissionsLast Updated
AAAS1Jun 13, 2018
ABCB41Jun 13, 2018
ABCD11Jun 13, 2018
ABCG82Jun 13, 2018
ACAD91Jun 13, 2018
ACADVL1Jun 13, 2018
AGXT1Jun 13, 2018
AHI12Jun 13, 2018
ALDH18A11Jun 13, 2018
ALDOB1Jun 13, 2018
ALG81Jun 13, 2018
ALOX12B1Jun 13, 2018
ALPL1Jun 13, 2018
AMACR1Jun 13, 2018
ANK11Jun 13, 2018
ANO54Jun 13, 2018
AP3B11Jun 13, 2018
APC1Jun 13, 2018
ARSB4Jun 13, 2018
ASAH11Apr 18, 2018
ASL1Jun 13, 2018
ASPA1Jun 13, 2018
ASPM1Jun 13, 2018
ASS11Jun 13, 2018
ATL11Jun 13, 2018
ATM2Jun 13, 2018
ATP1A31Jun 13, 2018
ATP6V0A21Jun 13, 2018
ATP7B2Jun 13, 2018
BBS121Jun 13, 2018
BCKDHA3Jun 13, 2018
BEST11Jun 13, 2018
BRAF1Jun 13, 2018
BSCL21Jun 13, 2018
BSND1Jun 13, 2018
C19orf122Jun 13, 2018
C1QTNF3-AMACR1Jun 13, 2018
CACNA1S2Jun 13, 2018
CAPN32Jun 13, 2018
CAV31Jun 13, 2018
CBS3Jun 13, 2018
CCDC1031Jun 13, 2018
CCDC391Jun 13, 2018
CDKL52Jun 13, 2018
CEP2901Jun 13, 2018
CFL21Apr 18, 2018
CFTR2Jun 13, 2018
CHD73Jun 13, 2018
CLN61Jun 13, 2018
CLN81Jun 13, 2018
CNNM21Apr 18, 2018
COL4A32Jun 13, 2018
COL5A11Jun 13, 2018
COL7A12Jun 13, 2018
CPLANE11Jun 13, 2018
DENND5A1Apr 18, 2018
DES1Apr 18, 2018
DHTKD11Apr 18, 2018
DMD1Jun 13, 2018
DSP1Jun 13, 2018
DYSF1Jun 13, 2018
ENG1Jun 13, 2018
ESR11Jul 6, 2017
FBN13Jun 13, 2018
FGFR11Jun 13, 2018
FGFR21Apr 18, 2018
FLNA1Jun 13, 2018
GAA1Jun 13, 2018
GALC1Jun 13, 2018
GALT1Jun 13, 2018
GHR1Jun 13, 2018
GLA1Jun 13, 2018
GLI31Jun 13, 2018
GP91Jun 13, 2018
HAAO2Apr 18, 2018
HFE1Jun 13, 2018
HMGCS21Apr 18, 2018
HNF1B1Jun 13, 2018
HNRNPUL2-BSCL21Jun 13, 2018
JAG11Jun 13, 2018
KCNE11Jun 13, 2018
KCNH22Jun 13, 2018
KCNQ21Jun 13, 2018
KIF5C1Jun 13, 2018
KIF71Jun 13, 2018
KMT2B11Jul 27, 2018
KMT2C3Apr 18, 2018
LDLR1Jun 13, 2018
LIPT23Apr 18, 2018
LMNA1Jun 13, 2018
LRP51Jun 13, 2018
MCCC21Jun 13, 2018
MECP22Jun 13, 2018
MEFV1Jun 13, 2018
MFN23Jun 13, 2018
MKKS2Jun 13, 2018
MRPS342Apr 18, 2018
MRPS71Apr 18, 2018
MYBPC32Jun 13, 2018
MYH71Jun 13, 2018
MYLK1Jun 13, 2018
MYO7A3Jun 13, 2018
NF12Jun 13, 2018
NLRP11Apr 18, 2018
NOTCH21Apr 18, 2018
NPC11Jun 13, 2018
NPHS11Jun 13, 2018
NTRK11Jun 13, 2018
OPA11Jun 13, 2018
ORC41Jun 13, 2018
PANK21Jun 13, 2018
PATL28Apr 18, 2018
PDGFRB1Jun 13, 2018
PEX12Jun 13, 2018
PEX31Apr 18, 2018
PFKM1Jun 13, 2018
PGM11Jun 13, 2018
PHEX1Jun 13, 2018
PHYH1Jun 13, 2018
PIK3CD1Jun 13, 2018
PKD11Jun 13, 2018
PKHD19Jun 13, 2018
PKP21Jun 13, 2018
PMM23Jun 13, 2018
POLG3Jun 13, 2018
POLH1Jun 13, 2018
POLR1C1Jun 13, 2018
POMT22Jun 13, 2018
PRICKLE11Jun 13, 2018
PRKAG21Jun 13, 2018
PSEN21Jun 13, 2018
PTPRQ1Apr 18, 2018
PYGM1Jun 13, 2018
RAB181Jun 13, 2018
RASA11Jun 13, 2018
RNASEH2B1Jun 13, 2018
RNASEH2C1Jun 13, 2018
RPL36A-HNRNPH21Jun 13, 2018
RS12Jun 13, 2018
RUNX21Jun 13, 2018
RYR11Jun 13, 2018
RYR21Jun 13, 2018
SBDS6Jun 13, 2018
SCN1A1Jun 13, 2018
SCN5A1Jun 13, 2018
SCN8A1Jun 13, 2018
SEC61A11Apr 18, 2018
SELENBP13Apr 18, 2018
SEMA4A1Jun 13, 2018
SERAC11Apr 18, 2018
SETBP12Jun 13, 2018
SGCB2Jun 13, 2018
SGCG1Jun 13, 2018
SGSH2Jun 13, 2018
SIX61Jun 13, 2018
SKI1Jun 13, 2018
SLC16A21Jun 13, 2018
SLC17A52Jun 13, 2018
SLC1A21Apr 18, 2018
SLC22A51Jun 13, 2018
SLC26A41Jun 13, 2018
SLC39A41Jun 13, 2018
SOHLH11Apr 18, 2018
SPAST1Jun 13, 2018
SPATA221Jun 13, 2018
SPG71Jun 13, 2018
SRD5A21Jun 13, 2018
SRPX21Jun 13, 2018
SSUH21Jun 13, 2018
STAMBP1Jun 13, 2018
SYNE21Jun 13, 2018
SYNGAP11Jun 13, 2018
TARDBP1Jun 13, 2018
TCIRG11Jun 13, 2018
TCN21Jun 13, 2018
TCOF11Jun 13, 2018
TECPR21Jun 13, 2018
TECTA1Jun 13, 2018
TMEM171Apr 18, 2018
TMEM671Jun 13, 2018
TSC21Jun 13, 2018
UBTF1Apr 18, 2018
USH2A3Jun 13, 2018
VIM1Apr 18, 2018
WFS11Jun 13, 2018
YWHAG5Apr 18, 2018
ZSWIM61Jun 13, 2018

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria1Apr 18, 2018
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Jun 13, 2018
3-methylcrotonyl CoA carboxylase 2 deficiency1Jun 13, 2018
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Apr 18, 2018
Acromelic frontonasal dysostosis1Jun 13, 2018
Acyl-CoA dehydrogenase family, member 9, deficiency of1Jun 13, 2018
Adrenoleukodystrophy1Jun 13, 2018
Adult hypophosphatasia1Jun 13, 2018
Aicardi Goutieres syndrome 21Jun 13, 2018
Aicardi Goutieres syndrome 31Jun 13, 2018
Alagille syndrome 11Jun 13, 2018
Allan-Herndon-Dudley syndrome1Jun 13, 2018
Alport syndrome, autosomal dominant1Jun 13, 2018
Alternating hemiplegia of childhood 21Jun 13, 2018
Alzheimer disease, type 41Jun 13, 2018
Amyotrophic lateral sclerosis type 101Jun 13, 2018
Aortic aneurysm, familial thoracic 71Jun 13, 2018
Argininosuccinate lyase deficiency1Jun 13, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 81Jun 13, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 91Jun 13, 2018
Ataxia-telangiectasia syndrome2Jun 13, 2018
Autoinflammation with arthritis and dyskeratosis1Apr 18, 2018
Autosomal recessive congenital ichthyosis 21Jun 13, 2018
Autosomal recessive polycystic kidney disease9Jun 13, 2018
Bardet-Biedl syndrome 121Jun 13, 2018
Bardet-Biedl syndrome 62Jun 13, 2018
Bernard Soulier syndrome1Jun 13, 2018
Bestrophinopathy, autosomal recessive1Jun 13, 2018
Brugada syndrome 11Jun 13, 2018
CHARGE association2Jun 13, 2018
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 322Apr 18, 2018
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 341Apr 18, 2018
Capillary malformation-arteriovenous malformation1Jun 13, 2018
Carbohydrate-deficient glycoprotein syndrome type I3Jun 13, 2018
Cataract 301Apr 18, 2018
Catecholaminergic polymorphic ventricular tachycardia type 11Jun 13, 2018
Ceroid lipofuscinosis neuronal 61Jun 13, 2018
Ceroid lipofuscinosis neuronal 81Jun 13, 2018
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B3Jun 13, 2018
Ciliary dyskinesia, primary, 141Jun 13, 2018
Ciliary dyskinesia, primary, 171Jun 13, 2018
Citrullinemia type I1Jun 13, 2018
Cleidocranial dysostosis1Jun 13, 2018
Congenital disorder of glycosylation type 1H1Jun 13, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21Jun 13, 2018
Cortical dysplasia, complex, with other brain malformations 21Jun 13, 2018
Crouzon syndrome1Apr 18, 2018
Cutis laxa-corneal clouding-oligophrenia syndrome1Jun 13, 2018
Cystic fibrosis2Jun 13, 2018
DEAFNESS, AUTOSOMAL DOMINANT 731Apr 18, 2018
Decreased antibody level in blood1Apr 18, 2018
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Jun 13, 2018
Dilated cardiomyopathy 1A1Jun 13, 2018
Dilated cardiomyopathy 1S1Jun 13, 2018
Dilated cardiomyopathy 3B1Jun 13, 2018
Dominant hereditary optic atrophy1Jun 13, 2018
Dystonia 28, childhood-onset11Jul 27, 2018
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES3Apr 18, 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 565Apr 18, 2018
Early infantile epileptic encephalopathy 131Jun 13, 2018
Early infantile epileptic encephalopathy 71Jun 13, 2018
Ehlers-Danlos syndrome, classic type1Jun 13, 2018
Enlarged vestibular aqueduct1Jun 13, 2018
Epileptic encephalopathy, early infantile, 411Apr 18, 2018
Epileptic encephalopathy, early infantile, 491Apr 18, 2018
Estrogen resistance1Jul 6, 2017
Extra oral halitosis3Apr 18, 2018
Exudative vitreoretinopathy 41Jun 13, 2018
Fabry disease1Jun 13, 2018
Familial Mediterranean fever1Jun 13, 2018
Familial X-linked hypophosphatemic vitamin D refractory rickets1Jun 13, 2018
Familial adenomatous polyposis 11Jun 13, 2018
Familial hypercholesterolemia1Jun 13, 2018
Familial hypertrophic cardiomyopathy 42Jun 13, 2018
Familial hypertrophic cardiomyopathy 61Jun 13, 2018
Familial hypoplastic, glomerulocystic kidney1Jun 13, 2018
Farber disease1Apr 18, 2018
Finnish congenital nephrotic syndrome1Jun 13, 2018
Galactosylceramide beta-galactosidase deficiency1Jun 13, 2018
Glucocorticoid deficiency with achalasia1Jun 13, 2018
Glycogen storage disease, type II1Jun 13, 2018
Glycogen storage disease, type V1Jun 13, 2018
Glycogen storage disease, type VII1Jun 13, 2018
Greig cephalopolysyndactyly syndrome1Jun 13, 2018
Hajdu-Cheney syndrome1Apr 18, 2018
Hemochromatosis type 11Jun 13, 2018
Hereditary acrodermatitis enteropathica1Jun 13, 2018
Hereditary fructosuria1Jun 13, 2018
Hereditary insensitivity to pain with anhidrosis1Jun 13, 2018
Homocystinuria due to CBS deficiency3Jun 13, 2018
Hydrolethalus syndrome 21Jun 13, 2018
Hypokalemic periodic paralysis 11Jun 13, 2018
Hypomagnesemia, seizures, and mental retardation1Apr 18, 2018
Immunodeficiency 141Jun 13, 2018
Infantile myofibromatosis 11Jun 13, 2018
Joubert syndrome 32Jun 13, 2018
Joubert syndrome 51Jun 13, 2018
Joubert syndrome 61Jun 13, 2018
Juvenile retinoschisis2Jun 13, 2018
KLEEFSTRA SYNDROME 23Apr 18, 2018
Kallmann syndrome 21Jun 13, 2018
Kallmann syndrome 51Jun 13, 2018
Laron-type isolated somatotropin defect1Jun 13, 2018
Limb-girdle muscular dystrophy, type 1C1Jun 13, 2018
Limb-girdle muscular dystrophy, type 2A2Jun 13, 2018
Limb-girdle muscular dystrophy, type 2B1Jun 13, 2018
Limb-girdle muscular dystrophy, type 2E2Jun 13, 2018
Limb-girdle muscular dystrophy, type 2L3Jun 13, 2018
Long QT syndrome 22Jun 13, 2018
Long QT syndrome 51Jun 13, 2018
Malignant hyperthermia, susceptibility to, 11Jun 13, 2018
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive1Jun 13, 2018
Maple syrup urine disease2Jun 13, 2018
Marfan syndrome3Jun 13, 2018
Meier-Gorlin syndrome 21Jun 13, 2018
Mental retardation, autosomal dominant 12Apr 18, 2018
Mental retardation, autosomal dominant 51Jun 13, 2018
Microcephaly-capillary malformation syndrome1Jun 13, 2018
Mucopolysaccharidosis type VI4Jun 13, 2018
Mucopolysaccharidosis, MPS-III-A1Jun 13, 2018
Muscular dystrophy1Apr 18, 2018
Myofibrillar myopathy 11Apr 18, 2018
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY1Apr 18, 2018
Nemaline myopathy 71Apr 18, 2018
Neurodegeneration with brain iron accumulation 41Jun 13, 2018
Neurofibromatosis, type 12Jun 13, 2018
Niemann-Pick disease type C11Jun 13, 2018
Noonan syndrome 71Jun 13, 2018
OOCYTE MATURATION DEFECT 48Apr 18, 2018
OVARIAN DYSGENESIS 51Apr 18, 2018
Oral-facial-digital syndrome1Apr 18, 2018
Orofaciodigital syndrome 61Jun 13, 2018
Osler hemorrhagic telangiectasia syndrome1Jun 13, 2018
Periventricular nodular heterotopia 11Jun 13, 2018
Peroxisome biogenesis disorder 10b1Apr 18, 2018
Phytanic acid storage disease1Jun 13, 2018
Pigmentary pallidal degeneration1Jun 13, 2018
Polycystic kidney disease, adult type1Jun 13, 2018
Primary hyperoxaluria, type I1Jun 13, 2018
Progressive familial intrahepatic cholestasis 31Jun 13, 2018
Progressive sclerosing poliodystrophy1Jun 13, 2018
Recessive dystrophic epidermolysis bullosa2Jun 13, 2018
Retinitis pigmentosa 391Jun 13, 2018
Rett syndrome2Jun 13, 2018
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked1Jun 13, 2018
Salla disease1Jun 13, 2018
Schinzel-Giedion syndrome1Jun 13, 2018
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1Jun 13, 2018
Severe autosomal recessive muscular dystrophy of childhood - North African type1Jun 13, 2018
Severe myoclonic epilepsy in infancy1Jun 13, 2018
Shprintzen-Goldberg syndrome1Jun 13, 2018
Shwachman syndrome6Jun 13, 2018
Sitosterolemia2Jun 13, 2018
Spastic paraplegia 171Jun 13, 2018
Spastic paraplegia 31Jun 13, 2018
Spastic paraplegia 4, autosomal dominant1Jun 13, 2018
Spastic paraplegia 71Jun 13, 2018
Spongy degeneration of central nervous system1Jun 13, 2018
Tuberous sclerosis 21Jun 13, 2018
Usher syndrome, type 13Jun 13, 2018
Usher syndrome, type 2A2Jun 13, 2018
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 12Apr 18, 2018
Very long chain acyl-CoA dehydrogenase deficiency1Jun 13, 2018
WFS1-Related Disorders1Jun 13, 2018
Wilson disease2Jun 13, 2018
Xeroderma pigmentosum, variant type1Jun 13, 2018
Zellweger syndrome2Jun 13, 2018
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Apr 18, 2018
not specified27Jun 13, 2018
Support Center