ClinVar Miner

Variants studied for Huntington disease-like syndrome

Included ClinVar conditions (16):
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 risk factor total
62 2 131 93 29 1 306

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
VPS13A 10 0 84 45 6 0 135
PANK2 21 1 22 9 4 0 57
NKX2-1, SFTA3 7 0 15 8 2 0 32
FTL, GYS1 0 0 0 17 2 0 19
FTL 5 0 7 4 0 0 15
ATXN2 1 0 0 6 4 1 12
XK 8 0 0 0 0 0 8
ATN1, LOC109461484 2 0 0 0 2 0 4
ATXN1, LOC108663993 1 0 0 0 3 0 4
ATXN3, LOC108663987 2 0 0 0 1 0 3
JPH3, LOC109029536 1 0 0 1 2 0 3
LOC108663996, TBP 0 0 1 1 1 0 3
NKX2-1 0 0 1 1 1 0 3
​intergenic 1 0 0 0 0 0 1
ATN1 1 0 0 0 0 0 1
ATXN1 0 0 0 1 0 0 1
ATXN3 0 0 0 0 1 0 1
JPH3 0 0 1 0 0 0 1
MBIP, MIPOL1, NKX2-1, NKX2-8, PAX9, PTCSC3, SFTA3, SLC25A21 1 0 0 0 0 0 1
PSEN2 0 1 0 0 0 0 1
TBP 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 111 65 13 0 189
OMIM 45 0 0 0 0 1 46
Invitae 10 0 12 3 1 0 26
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 15 2 0 18
GeneReviews 5 0 0 0 4 0 9
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 6 3 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 6 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 2 0 5
Counsyl 0 0 3 2 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 5
Fulgent Genetics 0 0 4 0 0 0 4
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Human Genetics Group at Institute of Prion Diseases London,University College London 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 1

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