ClinVar Miner

Variants studied for FTDALS

Included ClinVar conditions (14):
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
55 2 76 38 54 1 214

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SQSTM1 5 1 22 10 14 0 48
VCP 5 0 13 13 10 0 41
TBK1 9 0 12 6 8 0 35
FUS 10 0 8 1 11 0 29
TARDBP 20 1 8 2 2 0 29
CHCHD10 4 0 13 6 6 1 27
C9orf72, LOC109504728 2 0 0 0 1 0 3
C9orf72 0 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 0 71 37 48 0 166
OMIM 37 0 0 0 0 0 37
GeneReviews 17 0 3 0 1 0 21
Athena Diagnostics Inc 0 0 0 0 2 0 2
Institute of Human Genetics,Cologne University 2 0 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 0 2
Fulgent Genetics 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1

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