"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC129997381"[ - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205433	NM_005670.4(EPM2A):c.209A>T (p.Glu70Val)	EPM2A, EPM2A-DT +1 more (E70V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 265122	NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)	LOC129997381, EPM2A +1 more (E70Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GUncertain significance
Select item 856564	NM_005670.4(EPM2A):c.164A>C (p.Gln55Pro)	LOC129997381, EPM2A +1 more (Q55P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 129003	NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys)	LOC129997381, EPM2A +1 more (Q55K)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +3 more	GBenign
Select item 95306	NM_005670.4(EPM2A):c.159C>G (p.Ala53=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
Select item 205424	NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg)	EPM2A, EPM2A-DT +1 more (G50R)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +3 more	GUncertain significance
Select item 137222	NM_005670.4(EPM2A):c.24G>A (p.Val8=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 137221	NM_005670.4(EPM2A):c.-15C>A	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign