ClinVar Miner

Variants studied for encephalomyelitis

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
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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 not provided total
39 55 873 610 84 19 3 1658

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
TLR3 0 1 260 125 21 9 0 409
TICAM1 0 0 198 142 11 4 0 352
UNC93B1 4 2 156 140 22 2 1 323
TRAF3 1 0 133 151 22 1 0 307
CPT2 28 48 72 23 6 1 0 169
LOC130006235, UNC93B1 0 0 20 10 1 0 1 31
LOC126862065, TRAF3 0 0 15 14 1 0 0 30
CPT2, LOC129930561 5 3 7 3 0 0 0 18
LOC130006234, UNC93B1 1 0 4 1 0 0 0 6
IRF3 0 0 0 1 0 2 0 3
ABCD1 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 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 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 0 0 1 0 0 0 0 1
AMN, LOC130056550, LOC130056551, LOC130056552, LOC130056553, TRAF3 0 0 1 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 1
CACNA1A 0 0 1 0 0 0 0 1
COL6A2 0 0 1 0 0 0 0 1
MT-ND4 0 0 1 0 0 0 0 1
TBK1 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 5 2 787 580 78 0 0 1452
Genome-Nilou Lab 0 0 75 23 6 0 0 104
Fulgent Genetics, Fulgent Genetics 11 8 51 18 1 0 0 89
Baylor Genetics 34 48 0 0 0 0 0 82
OMIM 0 0 0 0 0 19 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1

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