Variants studied for Progressive myoclonic epilepsy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
78	14	678	474	66	1304

Gene and significance breakdown #

Total genes and gene combinations: 19

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SCARB2	16	5	170	179	11	381
GOSR2, LRRC37A2	6	2	106	75	12	197
EPM2A	18	2	94	74	7	195
EPM2A, EPM2A-DT, LOC129997381	13	2	80	65	3	163
PRICKLE2	0	0	116	12	25	153
GOSR2, LOC126862578, LRRC37A2	10	2	47	23	4	84
CSTB	8	0	40	31	1	80
CSTB, LOC130066788	1	0	14	15	1	31
LOC122965327, PRICKLE2	0	0	4	0	1	5
KCTD7	0	1	2	0	1	4
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
AGPAT3, CBS, CRYAA, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10, U2AF1	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: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	78	12	526	454	31	1101
Illumina Laboratory Services, Illumina	0	0	153	20	36	209
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	0	0	0	2

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