ClinVar for MedGen (Select 340621) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1013606	NM_198586.3(NHLRC1):c.254C>G (p.Pro85Arg)	NHLRC1 (P85R)	Single nucleotide variant (missense variant)	Myoclonic epilepsy of Lafora 2	GUncertain significance
Select item 162618	NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn)	NHLRC1 (D146N)	Single nucleotide variant (missense variant)	not specified +4 more	GPathogenic/Likely pathogenic
Select item 2592	NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala)	NHLRC1 (D308A)	Single nucleotide variant (missense variant)	Myoclonic epilepsy of Lafora 2	GPathogenic
Select item 2591	NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)	NHLRC1 (I198N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2590	NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter)	NHLRC1 (R265*)	Single nucleotide variant (nonsense)	Myoclonic epilepsy of Lafora 2	GPathogenic
Select item 2589	NM_198586.3(NHLRC1):c.992del (p.Gly331fs)	NHLRC1 (G331fs)	Deletion (frameshift variant)	Myoclonic epilepsy of Lafora 2	GPathogenic
Select item 2588	NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)	NHLRC1 (G158fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2587	NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)	NHLRC1 (P69A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2586	NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)	NHLRC1 (C26S)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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