ClinVar Miner

Variants studied for central nervous system infectious disorder

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 pathogenic, low penetrance risk factor not provided total
62 50 906 643 95 2 19 8 1741

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
TLR3 0 1 257 125 21 0 9 0 406
TICAM1 0 0 198 142 11 0 4 0 352
UNC93B1 4 2 156 140 22 0 2 1 323
TRAF3 0 0 131 151 22 0 1 0 304
CPT2 26 36 72 23 6 0 1 0 155
PRNP 26 9 42 33 11 2 0 5 109
LOC130006235, UNC93B1 0 0 20 10 1 0 0 1 31
LOC126862065, TRAF3 0 0 15 14 1 0 0 0 30
CPT2, LOC129930561 5 2 7 3 0 0 0 0 17
LOC130006234, UNC93B1 1 0 4 1 0 0 0 0 6
IRF3 0 0 0 1 0 0 2 0 3
ADAM33, ADISSP, ADRA1D, AP5S1, ATRN, AVP, BMP2, C20orf141, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, DDRGK1, DNAAF9, EBF4, FASTKD5, FERMT1, GFRA4, GNRH2, GPCPD1, HSPA12B, IDH3B, ITPA, LRRN4, LZTS3, MAVS, MCM8, MIR103A2, MIR1292, MRPS26, NOP56, OXT, PANK2, PCED1A, PCNA, PDYN, PRND, PRNP, PROKR2, PTPRA, RASSF2, RNF24, SHLD1, SIGLEC1, SLC23A2, SLC4A11, SMOX, SNRPB, SPEF1, STK35, TGM3, TGM6, TMC2, TMEM230, TMEM239, TRMT6, UBOX5, VPS16, ZNF343 0 0 1 0 0 0 0 0 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 0 0 1 0 0 0 0 0 1
AMN, LOC130056550, LOC130056551, LOC130056552, LOC130056553, TRAF3 0 0 1 0 0 0 0 0 1
ANKRD37, CCDC110, CFAP96, CFAP97, CYP4V2, F11, FAM149A, FAT1, KLKB1, LRP2BP, MTNR1A, PDLIM3, SLC25A4, SNX25, SORBS2, TLR3, UFSP2 0 0 1 0 0 0 0 0 1
TBK1 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
Invitae 14 5 818 610 89 2 0 0 1538
Genome-Nilou Lab 0 0 75 23 6 0 0 0 104
Fulgent Genetics, Fulgent Genetics 12 9 54 22 2 0 0 0 99
Baylor Genetics 31 34 0 0 0 0 0 0 65
OMIM 23 0 3 0 0 0 19 0 45
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 0 0 6
Mendelics 1 0 1 1 2 0 0 0 5
GeneReviews 0 0 0 0 0 0 0 5 5
Centogene AG - the Rare Disease Company 0 3 0 0 0 0 0 0 3
3billion 1 1 1 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 2 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 0 1

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