"Revvity Omics, Revvity"[submitter] AND "NHLRC1"[gene] - ClinVar

	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)	Inborn genetic diseases +2 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)	Lafora disease +3 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 +2 more	GConflicting classifications of pathogenicity

ClinVar