ClinVar Miner

Variants studied for Progressive myoclonic epilepsy

Coded as:
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 total
75 11 683 422 66 1252

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 total
SCARB2 16 4 175 160 11 366
GOSR2, LRRC37A2 6 1 106 66 12 188
EPM2A 18 2 95 62 7 184
EPM2A, EPM2A-DT, LOC129997381 13 2 80 58 3 156
PRICKLE2 0 0 116 12 25 153
CSTB 8 0 40 29 1 78
GOSR2, LOC126862578, LRRC37A2 8 2 46 20 4 78
CSTB, LOC130066788 1 0 14 15 1 31
LOC122965327, PRICKLE2 0 0 4 0 1 5
KCTD7 0 0 2 0 1 3
AGPAT3, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10 1 0 1 0 0 2
GOSR2 1 0 1 0 0 2
GOSR2, WNT3, WNT9B 1 0 1 0 0 2
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 1 0 0 0 0 1
ART3, CCDC158, CDKL2, CXCL10, CXCL11, CXCL9, FAM47E, FAM47E-STBD1, G3BP2, NAAA, NUP54, ODAPH, PPEF2, SCARB2, SDAD1, SHROOM3, STBD1, USO1 1 0 0 0 0 1
CSTB, HSF2BP, PDXK, RRP1B, SIK1 0 0 1 0 0 1
LOC129992690, SCARB2 0 0 1 0 0 1
LOC129992692, LOC129992693, SCARB2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 75 11 531 402 31 1050
Illumina Laboratory Services, Illumina 0 0 153 20 36 209

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