ClinVar for MedGen (Select 1844054) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340091	NM_005670.4(EPM2A):c.301+1G>C	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant +1 more)	Myoclonic epilepsy of Lafora 1	GLikely pathogenic
Select item 3241989	NM_198586.3(NHLRC1):c.130C>G (p.Leu44Val)	NHLRC1 (L44V)	Single nucleotide variant (missense variant)	Myoclonic epilepsy of Lafora 1	GUncertain significance
Select item 3234973	NM_005670.4(EPM2A):c.82_154del (p.Glu28fs)	EPM2A, EPM2A-DT +1 more (E28fs)	Deletion (frameshift variant +2 more)	Myoclonic epilepsy of Lafora 1	GLikely pathogenic
Select item 3065607	NM_005670.4(EPM2A):c.177del (p.Trp60fs)	EPM2A, EPM2A-DT +1 more (W60fs)	Deletion (frameshift variant +2 more)	Myoclonic epilepsy of Lafora 1	GLikely pathogenic
Select item 3065483	NM_005670.4(EPM2A):c.263T>A (p.Phe88Tyr)	EPM2A, EPM2A-DT +1 more (F88Y)	Single nucleotide variant (missense variant +2 more)	Myoclonic epilepsy of Lafora 1	GLikely pathogenic
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 205431	NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter)	LOC129997381, EPM2A +1 more (E56*)	Single nucleotide variant (nonsense +2 more)	Myoclonic epilepsy of Lafora 1 +1 more	GPathogenic
Select item 3107	NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)	EPM2A, EPM2A-DT +1 more (W32G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3106	NM_005670.4(EPM2A):c.953dup (p.Gln319fs)	EPM2A (Q319fs +2 more)	Duplication (3 prime UTR variant +3 more)	Myoclonic epilepsy of Lafora 1	GPathogenic
Select item 3102	NM_005670.4(EPM2A):c.512G>A (p.Arg171His)	EPM2A (R171H +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GLikely pathogenic
Select item 3101	NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter)	EPM2A (Y112*)	Duplication (nonsense +2 more)	Myoclonic epilepsy of Lafora 1	GPathogenic
Select item 3100	NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)	EPM2A (R108C)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 3099	NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)	EPM2A (G279S +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 3098	NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	EPM2A (R241* +3 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +3 more	GPathogenic