"Athena Diagnostics"[submitter] AND "EPM2A"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 660962	NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)	EPM2A (E169K +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 430074	NM_005670.4(EPM2A):c.815G>A (p.Arg272His)	EPM2A (R272H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 411297	NM_005670.4(EPM2A):c.743C>T (p.Ala248Val)	EPM2A (A248V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 205435	NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)	EPM2A (R241Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 196413	NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)	EPM2A (A227V +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 205429	NM_005670.4(EPM2A):c.644A>T (p.Asp215Val)	EPM2A (D215V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 585849	NM_005670.4(EPM2A):c.634A>G (p.Met212Val)	EPM2A (M212V +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1806900	NM_005670.4(EPM2A):c.553G>C (p.Gly185Arg)	EPM2A (G185R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 567836	NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)	EPM2A (I164V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 129005	NM_005670.4(EPM2A):c.402G>A (p.Gly134=)	EPM2A	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign
Select item 129004	NM_005670.4(EPM2A):c.393G>A (p.Glu131=)	EPM2A	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
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 377829	NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp)	EPM2A-DT, LOC129997381 +1 more (G48D)	Single nucleotide variant (missense variant +2 more)	not provided +3 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
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