ClinVar Miner

Variants from Genome Diagnostics Laboratory,VU University Medical Center Amsterdam

Location: Netherlands — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
20 1 9 165 237 432

Gene and significance breakdown #

Total genes and gene combinations: 92
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NPC1 0 1 0 19 9 29
FBN2 0 0 0 5 19 24
ZNF469 0 0 0 2 18 20
ATM 0 0 1 8 10 19
SPG11 0 0 0 14 4 18
MSH2 1 0 2 4 9 16
PMS2 0 0 0 4 12 16
MYH11 0 0 0 11 4 15
MYH11, NDE1 0 0 1 7 7 15
BIVM-ERCC5, ERCC5 1 0 1 5 6 13
CTSD 0 0 0 7 4 11
ADAMTS2 0 0 0 0 10 10
MSH6 0 0 1 5 4 10
ATXN2 0 0 0 6 3 9
ALK 0 0 0 2 6 8
CSF1R 0 0 0 3 5 8
NEFH 0 0 0 2 6 8
SLC20A2 0 0 0 8 0 8
BBS9 0 0 0 2 4 6
GIGYF2 0 0 0 2 4 6
SLC2A10 0 0 0 4 2 6
SQSTM1 0 0 0 4 2 6
TBK1 0 0 0 4 2 6
BBS12 0 0 0 1 4 5
EFEMP2 0 0 0 3 2 5
FBXO7 0 0 0 2 3 5
LTBP4 0 0 0 0 5 5
SLC6A3 0 0 0 2 3 5
ACVRL1 0 0 0 1 3 4
CBS 0 0 0 2 2 4
COL18A1, SLC19A1 0 0 0 0 4 4
CTSF 0 0 0 0 4 4
FA2H 0 0 0 1 3 4
TH 0 0 0 1 3 4
TREM2 1 0 0 3 0 4
VCAN 0 0 0 0 4 4
ATM, C11orf65 0 0 0 0 3 3
B4GALT7 0 0 0 1 2 3
BBS2 0 0 0 0 3 3
BRCA2 0 0 0 3 0 3
COL18A1 0 0 0 0 3 3
FAS 0 0 0 1 2 3
IRS1 0 0 0 2 1 3
MLH1 0 0 0 0 3 3
PDGFB 0 0 1 1 1 3
SCARF2 0 0 0 0 3 3
ANKRD11 2 0 0 0 0 2
BRCA1 1 0 0 1 0 2
C19orf12 0 0 0 1 1 2
CHST3 0 0 0 1 1 2
ITK 0 0 0 0 2 2
MRE11 0 0 0 1 1 2
PMM2 2 0 0 0 0 2
POLH 0 0 1 0 1 2
SBDS 0 0 0 0 2 2
SP7 0 0 0 0 2 2
TARDBP 0 0 0 1 1 2
TGFB2 0 0 0 0 2 2
ADAMTS10 0 0 0 0 1 1
ALDH18A1 0 0 0 0 1 1
ALDH7A1 1 0 0 0 0 1
ARID1B 1 0 0 0 0 1
B3GALNT2 1 0 0 0 0 1
BBS1 0 0 0 1 0 1
BBS10 0 0 0 0 1 1
BBS7 0 0 0 0 1 1
CAMK1, OGG1 0 0 0 1 0 1
CDKN1B 0 0 0 1 0 1
CSF1R, LOC111188154 0 0 0 0 1 1
CUBN 0 0 1 0 0 1
EFEMP2, MUS81 0 0 0 0 1 1
FANCA 0 0 0 1 0 1
FANCA, ZNF276 0 0 0 0 1 1
G6PC 1 0 0 0 0 1
IFITM5 0 0 0 0 1 1
INS, TH 0 0 0 1 0 1
OTOGL 1 0 0 0 0 1
PACS1 1 0 0 0 0 1
PAH 1 0 0 0 0 1
PDSS1 0 0 0 1 0 1
PKHD1 1 0 0 0 0 1
POLR3B 1 0 0 0 0 1
PRKRA 0 0 0 0 1 1
PSENEN 0 0 0 0 1 1
RAD50 0 0 0 1 0 1
RUNX1 0 0 0 0 1 1
SATB2 1 0 0 0 0 1
SPAST 1 0 0 0 0 1
SUOX 0 0 0 0 1 1
TUBA1A 1 0 0 0 0 1
TYROBP 0 0 0 1 0 1
UCHL1 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 79
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Aortic aneurysm, familial thoracic 4 0 0 1 18 11 30
Niemann-Pick disease type C1 0 1 0 19 9 29
Congenital contractural arachnodactyly 0 0 0 5 19 24
Ataxia-telangiectasia syndrome 0 0 1 8 13 22
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 0 0 0 2 18 20
Spastic paraplegia 11, autosomal recessive 0 0 0 14 4 18
Bardet-Biedl syndrome 1 0 0 0 4 13 17
Hereditary nonpolyposis colorectal cancer type 4 0 0 0 4 12 16
Lynch syndrome I 1 0 2 4 9 16
Xeroderma pigmentosum, group G 1 0 1 5 6 13
Ceroid lipofuscinosis neuronal 10 0 0 0 7 4 11
Ehlers-Danlos syndrome, type vii, autosomal recessive 0 0 0 0 10 10
Hereditary nonpolyposis colorectal cancer type 5 0 0 1 5 4 10
Hereditary diffuse leukoencephalopathy with spheroids 0 0 0 3 6 9
Spinocerebellar ataxia 2 0 0 0 6 3 9
Amyotrophic lateral sclerosis type 1 0 0 0 2 6 8
Idiopathic basal ganglia calcification 1 0 0 0 8 0 8
Neuroblastoma 3 0 0 0 2 6 8
Knobloch syndrome 1 0 0 0 0 7 7
Arterial tortuosity syndrome 0 0 0 4 2 6
Autosomal recessive cutis laxa type 1B 0 0 0 3 3 6
Glaucoma 1, open angle, p 0 0 0 4 2 6
Paget disease of bone 2, early-onset 0 0 0 4 2 6
Parkinson disease 11 0 0 0 2 4 6
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 0 0 0 0 5 5
Infantile Parkinsonism-dystonia 0 0 0 2 3 5
Parkinson disease 15 0 0 0 2 3 5
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 0 0 4 0 5
Segawa syndrome, autosomal recessive 0 0 0 2 3 5
Ceroid lipofuscinosis, neuronal, 13 0 0 0 0 4 4
Hereditary hemorrhagic telangiectasia type 2 0 0 0 1 3 4
Homocystinuria due to CBS deficiency 0 0 0 2 2 4
Spastic paraplegia 35 0 0 0 1 3 4
Wagner syndrome 0 0 0 0 4 4
Autoimmune lymphoproliferative syndrome 0 0 0 1 2 3
Breast-ovarian cancer, familial 2 0 0 0 3 0 3
Dermatofibrosarcoma protuberans 0 0 1 1 1 3
Diabetes mellitus type 2 0 0 0 2 1 3
Ehlers-Danlos syndrome progeroid type 0 0 0 1 2 3
Lynch syndrome II 0 0 0 0 3 3
Marden Walker like syndrome 0 0 0 0 3 3
Amyotrophic lateral sclerosis type 10 0 0 0 1 1 2
Ataxia-telangiectasia-like disorder 1 0 0 0 1 1 2
Breast-ovarian cancer, familial 1 1 0 0 1 0 2
Carbohydrate-deficient glycoprotein syndrome type I 2 0 0 0 0 2
Fanconi anemia, complementation group A 0 0 0 1 1 2
KBG syndrome 2 0 0 0 0 2
Loeys-Dietz syndrome 4 0 0 0 0 2 2
Lymphoproliferative syndrome 1 0 0 0 0 2 2
Neurodegeneration with brain iron accumulation 4 0 0 0 1 1 2
Osteogenesis imperfecta type 12 0 0 0 0 2 2
Shwachman syndrome 0 0 0 0 2 2
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 0 0 1 1 2
Xeroderma pigmentosum, variant type 0 0 1 0 1 2
Acne inversa, familial, 2 0 0 0 0 1 1
Autosomal recessive polycystic kidney disease 1 0 0 0 0 1
Cleft palate, isolated 1 0 0 0 0 1
Coenzyme Q10 deficiency, primary, 2 0 0 0 1 0 1
Coffin-Siris syndrome 1 1 0 0 0 0 1
Cutis laxa-corneal clouding-oligophrenia syndrome 0 0 0 0 1 1
Deafness, autosomal recessive 84b 1 0 0 0 0 1
Dystonia 16 0 0 0 0 1 1
Familial platelet disorder with associated myeloid malignancy 0 0 0 0 1 1
Glycogen storage disease type 1A 1 0 0 0 0 1
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 1 0 0 0 0 1
Lissencephaly 3 1 0 0 0 0 1
Megaloblastic anemia due to inborn errors of metabolism 0 0 1 0 0 1
Multiple endocrine neoplasia, type 4 0 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 1 0 0 0 0 1
Nijmegen breakage syndrome-like disorder 0 0 0 1 0 1
Osteogenesis imperfecta type 5 0 0 0 0 1 1
Parkinson disease 5 0 0 0 0 1 1
Phenylketonuria 1 0 0 0 0 1
Pyridoxine-dependent epilepsy 1 0 0 0 0 1
Renal cell carcinoma, nonpapillary 0 0 0 1 0 1
Schuurs-hoeijmakers syndrome 1 0 0 0 0 1
Spastic paraplegia 4, autosomal dominant 1 0 0 0 0 1
Sulfite oxidase deficiency 0 0 0 0 1 1
Weill-Marchesani syndrome 1 0 0 0 0 1 1

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