ClinVar Miner

Variants from UniProtKB/Swiss-Prot

Location: Switzerland — Primary collection method: not provided
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 not provided total
0 1 2 2 0 916 921

Gene and significance breakdown #

Total genes and gene combinations: 62
Download table as spreadsheet
Gene or gene combination likely pathogenic uncertain significance likely benign not provided total
LOC102724058, SCN1A 0 1 0 106 107
SCN1A 0 1 0 85 86
NF1 0 0 0 73 73
CYBB 0 0 0 61 61
ARSA 0 0 0 60 60
CACNA1A 0 0 1 40 41
F11 0 0 0 41 41
OCRL 0 0 0 35 35
ADAMTS13 0 0 0 33 33
SLC37A4 0 0 0 32 32
SMARCA2 0 0 0 28 28
ADA 0 0 0 27 27
TPP1 0 0 0 23 23
DKC1 0 0 0 22 22
INS, INS-IGF2 0 0 1 20 21
RAG1 0 0 0 20 20
NCF2 0 0 0 17 17
AIRE 0 0 0 15 15
SERPING1 0 0 0 15 15
CARD14 0 0 0 13 13
IKBKG 0 0 0 10 10
ACTG1 0 0 0 9 9
MLC1 0 0 0 9 9
ERCC8 0 0 0 7 7
SEMA3A 0 0 0 7 7
SLC46A1 0 0 0 7 7
SMAD4 0 0 0 7 7
CYBA 0 0 0 6 6
FREM1 0 0 0 6 6
WDR11 0 0 0 6 6
CCBE1 0 0 0 5 5
CFHR5 0 0 0 5 5
SMARCA4 0 0 0 5 5
ACTB 0 0 0 4 4
GPR179 0 0 0 4 4
ITGB2 0 0 0 4 4
RAB7A 0 0 0 4 4
CARD14, SGSH 0 0 0 3 3
HAX1 0 0 0 3 3
PYCR1 0 0 0 3 3
SARM1, SLC46A1 0 0 0 3 3
TRPV3 0 0 0 3 3
WNT10A 0 0 0 3 3
ADA, LOC107303343 0 0 0 2 2
CBX2 0 0 0 2 2
CHST14 0 0 0 2 2
CYP26B1 0 0 0 2 2
ENPP1 0 0 0 2 2
HTRA1 0 0 0 2 2
RTTN 0 0 0 2 2
TACR3 0 0 0 2 2
VAPB 0 0 0 2 2
ABCD4 0 0 0 1 1
BMP1 0 0 0 1 1
GFER 0 0 0 1 1
HCFC1 0 0 0 1 1
ITK 0 0 0 1 1
MATR3 1 0 0 0 1
PRX 0 0 0 1 1
SKIV2L 0 0 0 1 1
SLC33A1 0 0 0 1 1
TAC3 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 31
Download table as spreadsheet
Condition likely pathogenic uncertain significance likely benign not provided total
not provided 0 0 2 534 536
Severe myoclonic epilepsy in infancy 0 0 0 150 150
Lowe syndrome 0 0 0 32 32
Severe combined immunodeficiency due to ADA deficiency 0 0 0 29 29
Generalized epilepsy with febrile seizures plus, type 1 0 0 0 23 23
Ceroid lipofuscinosis neuronal 2 0 0 0 22 22
Dyskeratosis congenita X-linked 0 0 0 22 22
Episodic ataxia type 2 0 0 0 20 20
Permanent neonatal diabetes mellitus 0 0 0 16 16
Familial hemiplegic migraine type 1 0 0 0 15 15
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 0 0 0 14 14
Hennekam lymphangiectasia-lymphedema syndrome 0 0 0 5 5
Familial hemiplegic migraine type 3 0 0 0 4 4
Generalized epilepsy 0 0 0 4 4
Dent disease 2 0 0 0 3 3
Focal epilepsy 0 0 0 3 3
Maturity-onset diabetes of the young, type 10 0 0 0 3 3
46,XY sex reversal, type 5 0 0 0 2 2
Autistic disorder of childhood onset 0 2 0 0 2
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 0 0 0 2 2
Ehlers-Danlos syndrome, musculocontractural type 0 0 0 2 2
Hypophosphatemic rickets, autosomal recessive, 2 0 0 0 2 2
Spinocerebellar ataxia 6 0 0 0 2 2
Amyotrophic lateral sclerosis 21 1 0 0 0 1
Diabetes mellitus, insulin-dependent, 2 0 0 0 1 1
Epileptic encephalopathy Lennox-Gastaut type 0 0 0 1 1
Generalized epilepsy with febrile seizures plus, type 2 0 0 0 1 1
Lymphoproliferative syndrome 1 0 0 0 1 1
Myoclonic encephalopathy 0 0 0 1 1
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 0 0 0 1 1
West syndrome 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.