"PreventionGenetics, part of Exact Sciences"[submitter] AND "EPM2A"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053538	NM_005670.4(EPM2A):c.*1731G>A	EPM2A	Single nucleotide variant (3 prime UTR variant +1 more)	EPM2A-related disorder	GLikely benign
Select item 137218	NM_005670.4(EPM2A):c.762G>A (p.Ala254=)	EPM2A (A174T)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 383679	NM_005670.4(EPM2A):c.744G>A (p.Ala248=)	EPM2A (G168S)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +2 more	GLikely benign
Select item 205435	NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)	EPM2A (R241Q +2 more)	Single nucleotide variant (missense variant +2 more)	Seizure +6 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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 205428	NM_005670.4(EPM2A):c.620G>A (p.Arg207His)	EPM2A (R207H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 129005	NM_005670.4(EPM2A):c.402G>A (p.Gly134=)	EPM2A	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +4 more	GBenign
Select item 167038	NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)	EPM2A (I126V)	Single nucleotide variant (missense variant +2 more)	EPM2A-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 95306	NM_005670.4(EPM2A):c.159C>G (p.Ala53=)	LOC129997381, EPM2A +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
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)	Seizure +5 more	GConflicting classifications of pathogenicity
Select item 162617	NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)	EPM2A, EPM2A-DT +1 more (A46P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2394183	NM_005670.4(EPM2A):c.133A>C (p.Thr45Pro)	EPM2A, EPM2A-DT +1 more (T45P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1750006	NM_005670.4(EPM2A):c.120G>C (p.Leu40=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
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