C0751783[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434353	NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)	NHLRC1 (L239P)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2434352	NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)	NHLRC1 (S216del)	Deletion (inframe_deletion)	Lafora disease	GUncertain significance
Select item 2689581	NM_198586.3(NHLRC1):c.621C>T (p.Ile207=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GUncertain significance
Select item 206189	NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)	NHLRC1 (C160R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2689580	NM_198586.3(NHLRC1):c.76T>G (p.Cys26Gly)	NHLRC1 (C26G)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 193518	NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)	NHLRC1 (M16V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 167350	NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)	NHLRC1 (A11E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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
Select item 1322827	NM_005670.4(EPM2A):c.322del (p.Arg108fs)	EPM2A (R108fs)	Deletion (frameshift variant +2 more)	Lafora disease	GPathogenic
Select item 419335	NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)	EPM2A, EPM2A-DT +1 more (Q55*)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy +2 more	GPathogenic/Likely pathogenic
Select item 1075527	NM_005670.4(EPM2A):c.108_139del (p.Ala37fs)	EPM2A, EPM2A-DT +1 more (A37fs)	Deletion (intron variant +2 more)	Lafora disease +1 more	GPathogenic