Genome Diagnostics Laboratory (VU University Medical Center Amsterdam)

General information

Genome Diagnostics Laboratory
VU University Medical Center Amsterdam
van der Boechorststraat 7
Amsterdam
Noord-Holland
Netherlands - 1081 BT
http://www.vumc.nl
Organization ID: 506453

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 433

Gene

GeneSubmissionsLast Updated
ACVRL14Apr 9, 2018
ADAMTS101Apr 9, 2018
ADAMTS210Apr 9, 2018
ALDH18A11Apr 9, 2018
ALDH7A11Apr 9, 2018
ALK8Apr 9, 2018
ANKRD112Apr 9, 2018
ARID1B1Apr 9, 2018
ATM22Apr 9, 2018
ATXN29Apr 9, 2018
B3GALNT21Apr 9, 2018
B4GALT73Apr 9, 2018
BBS11Apr 9, 2018
BBS101Apr 9, 2018
BBS125Apr 9, 2018
BBS23Apr 9, 2018
BBS71Apr 9, 2018
BBS96Apr 9, 2018
BIVM-ERCC513Apr 9, 2018
BRCA12Apr 9, 2018
BRCA23Apr 9, 2018
C11orf653Apr 9, 2018
C19orf122Apr 9, 2018
CAMK11Apr 9, 2018
CBS4Apr 9, 2018
CDKN1B1Apr 9, 2018
CHST32Apr 9, 2018
COL18A17Apr 9, 2018
CSF1R9Apr 9, 2018
CTSD11Apr 9, 2018
CTSF4Apr 9, 2018
CUBN1Apr 9, 2018
EFEMP26Apr 9, 2018
ERCC513Apr 9, 2018
FA2H4Apr 9, 2018
FANCA2Apr 9, 2018
FAS3Apr 9, 2018
FBN224Apr 9, 2018
FBXO75Apr 9, 2018
G6PC11Apr 9, 2018
GIGYF26Apr 9, 2018
IFITM51Apr 9, 2018
INS1Apr 9, 2018
IRS13Apr 9, 2018
ITK2Apr 9, 2018
LOC1111881541Apr 9, 2018
LTBP45Apr 9, 2018
MLH13Apr 9, 2018
MRE112Apr 9, 2018
MSH216Apr 9, 2018
MSH610Apr 9, 2018
MUS811Apr 9, 2018
MYH1130Apr 9, 2018
NDE115Apr 9, 2018
NEFH8Apr 9, 2018
NPC130Apr 9, 2018
OGG11Apr 9, 2018
OTOGL1Apr 9, 2018
PACS11Apr 9, 2018
PAH1Apr 9, 2018
PDGFB3Apr 9, 2018
PDSS11Apr 9, 2018
PKHD11Apr 9, 2018
PMM22Apr 9, 2018
PMS216Apr 9, 2018
POLH2Apr 9, 2018
POLR3B1Apr 9, 2018
PRKRA1Apr 9, 2018
PSENEN1Apr 9, 2018
RAD501Apr 9, 2018
RUNX11Apr 9, 2018
SATB21Apr 9, 2018
SBDS2Apr 9, 2018
SCARF23Apr 9, 2018
SLC19A14Apr 9, 2018
SLC20A28Apr 9, 2018
SLC2A106Apr 9, 2018
SLC6A35Apr 9, 2018
SP72Apr 9, 2018
SPAST1Apr 9, 2018
SPG1118Apr 9, 2018
SQSTM16Apr 9, 2018
SUOX1Apr 9, 2018
TARDBP2Apr 9, 2018
TBK16Apr 9, 2018
TGFB22Apr 9, 2018
TH5Apr 9, 2018
TREM24Apr 9, 2018
TUBA1A1Apr 9, 2018
TYROBP1Apr 9, 2018
UCHL11Apr 9, 2018
VCAN4Apr 9, 2018
VCAN-AS11Apr 9, 2018
ZNF2761Apr 9, 2018
ZNF46920Apr 9, 2018

Condition

NameSubmissionsLast Updated
Acne inversa, familial, 21Apr 9, 2018
Amyotrophic lateral sclerosis type 18Apr 9, 2018
Amyotrophic lateral sclerosis type 102Apr 9, 2018
Aortic aneurysm, familial thoracic 430Apr 9, 2018
Arterial tortuosity syndrome6Apr 9, 2018
Ataxia-telangiectasia syndrome22Apr 9, 2018
Ataxia-telangiectasia-like disorder 12Apr 9, 2018
Autoimmune lymphoproliferative syndrome3Apr 9, 2018
Autosomal recessive DOPA responsive dystonia5Apr 9, 2018
Autosomal recessive cutis laxa type 1B6Apr 9, 2018
Autosomal recessive polycystic kidney disease1Apr 9, 2018
Bardet-Biedl syndrome 117Apr 9, 2018
Breast-ovarian cancer, familial 12Apr 9, 2018
Breast-ovarian cancer, familial 23Apr 9, 2018
Brittle cornea syndrome 120Apr 9, 2018
Ceroid lipofuscinosis, neuronal, 134Apr 9, 2018
Classic homocystinuria4Apr 9, 2018
Cleft palate, isolated1Apr 9, 2018
Coenzyme Q10 deficiency, primary, 21Apr 9, 2018
Coffin-Siris syndrome 11Apr 9, 2018
Congenital contractural arachnodactyly24Apr 9, 2018
Congenital disorder of glycosylation, type Ia2Apr 9, 2018
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities5Apr 9, 2018
Cutis laxa, autosomal recessive IIIA1Apr 9, 2018
Deafness, autosomal recessive 84b1Apr 9, 2018
Dermatofibrosarcoma protuberans3Apr 9, 2018
Dystonia 161Apr 9, 2018
Ehlers-Danlos syndrome dermatosparaxis type10Apr 9, 2018
Ehlers-Danlos syndrome progeroid type3Apr 9, 2018
Familial platelet disorder with associated myeloid malignancy1Apr 9, 2018
Fanconi anemia, complementation group A2Apr 9, 2018
Glaucoma 1, open angle, p6Apr 9, 2018
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Apr 9, 2018
Hereditary diffuse leukoencephalopathy with spheroids9Apr 9, 2018
Hereditary nonpolyposis colorectal cancer type 416Apr 9, 2018
Hereditary nonpolyposis colorectal cancer type 510Apr 9, 2018
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1Apr 9, 2018
Idiopathic basal ganglia calcification 18Apr 9, 2018
Imerslund-Gräsbeck syndrome1Apr 9, 2018
Isolated sulfite oxidase deficiency1Apr 9, 2018
KBG syndrome2Apr 9, 2018
Knobloch syndrome 17Apr 9, 2018
Lissencephaly 31Apr 9, 2018
Loeys-Dietz syndrome 42Apr 9, 2018
Lymphoproliferative syndrome 12Apr 9, 2018
Lynch syndrome I16Apr 9, 2018
Lynch syndrome II3Apr 9, 2018
Multiple endocrine neoplasia, type 41Apr 9, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Apr 9, 2018
Neuroblastoma 38Apr 9, 2018
Neurodegeneration with brain iron accumulation 42Apr 9, 2018
Neuronal ceroid lipofuscinosis 1011Apr 9, 2018
Niemann-Pick disease type C130Apr 9, 2018
Nijmegen breakage syndrome-like disorder1Apr 9, 2018
Osteogenesis imperfecta type 122Apr 9, 2018
Osteogenesis imperfecta type 51Apr 9, 2018
Paget disease of bone 2, early-onset6Apr 9, 2018
Parkinson disease 116Apr 9, 2018
Parkinson disease 155Apr 9, 2018
Parkinson disease 51Apr 9, 2018
Parkinsonism-dystonia, infantile, 15Apr 9, 2018
Phenylketonuria1Apr 9, 2018
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 15Apr 9, 2018
Pyridoxine-dependent epilepsy1Apr 9, 2018
Renal cell carcinoma, nonpapillary1Apr 9, 2018
Schuurs-hoeijmakers syndrome1Apr 9, 2018
Shwachman-Diamond syndrome 12Apr 9, 2018
Spastic paraplegia 11, autosomal recessive18Apr 9, 2018
Spastic paraplegia 354Apr 9, 2018
Spastic paraplegia 4, autosomal dominant1Apr 9, 2018
Spinocerebellar ataxia type 29Apr 9, 2018
Spondyloepiphyseal dysplasia with congenital joint dislocations2Apr 9, 2018
Telangiectasia, hereditary hemorrhagic, type 24Apr 9, 2018
Type 2 diabetes mellitus3Apr 9, 2018
Van den Ende-Gupta syndrome3Apr 9, 2018
Wagner syndrome4Apr 9, 2018
Weill-Marchesani syndrome 11Apr 9, 2018
Xeroderma pigmentosum variant type2Apr 9, 2018
Xeroderma pigmentosum, group G13Apr 9, 2018
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