"Fulgent Genetics, Fulgent Genetics"[submitter] AND "EPM2A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 429342	NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)	EPM2A (A116fs +3 more)	Indel (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 3098	NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	EPM2A (R241* +3 more)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy +3 more	GPathogenic
Select item 205426	NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)	EPM2A (N163S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 193326	NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)	EPM2A, EPM2A-DT +1 more (G79R)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +3 more	GUncertain significance
Select item 205444	NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)	EPM2A, EPM2A-DT +1 more (A46T)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 162617	NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)	EPM2A-DT, LOC129997381 +1 more (A46P)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign/Likely benign

ClinVar