ClinVar Miner

Variants studied for encephalomyelitis

Included ClinVar conditions (12):
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 not provided total
46 69 975 710 84 18 3 1871

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 1 304 145 21 9 0 472
TICAM1 0 0 203 163 11 4 0 378
UNC93B1 5 3 148 173 22 2 1 350
TRAF3 3 0 144 169 22 0 0 337
CPT2 31 59 117 23 6 1 0 222
LOC130006235, UNC93B1 1 0 18 16 1 0 1 36
LOC126862065, TRAF3 0 0 18 16 1 0 0 35
CPT2, LOC129930561 5 5 10 3 0 0 0 21
LOC130006234, UNC93B1 1 0 4 1 0 0 0 6
IRF3 0 0 1 1 0 2 0 4
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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 3 839 680 78 0 0 1607
Fulgent Genetics, Fulgent Genetics 16 30 111 18 1 0 0 176
Genome-Nilou Lab 0 0 75 23 6 0 0 104
Baylor Genetics 34 48 0 0 0 0 0 82
OMIM 2 0 0 0 0 18 0 20
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
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 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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