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
65 63 913 643 95 2 19 8 1764

Gene and significance breakdown #

Total genes and gene combinations: 18
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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 1 260 125 21 0 9 0 409
TICAM1 0 0 198 142 11 0 4 0 352
UNC93B1 4 2 156 140 22 0 2 1 323
TRAF3 1 0 133 151 22 0 1 0 307
CPT2 28 48 72 23 6 0 1 0 169
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 3 7 3 0 0 0 0 18
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
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CKB, CLBA1, COA8, EIF5, EXOC3L4, GPR132, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, XRCC3, ZBTB42, ZFYVE21 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 5 824 610 89 2 0 0 1544
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 34 48 0 0 0 0 0 0 82
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
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 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
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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