"Genome-Nilou Lab"[submitter] AND "TNRC6A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 769896	NM_014494.4(TNRC6A):c.339_350del (p.113_114PQ[1])	TNRC6A	Deletion (inframe_deletion)	Epilepsy, familial adult myoclonic, 6 +1 more	GBenign
Select item 1279086	NM_014494.4(TNRC6A):c.555T>A (p.Asn185Lys)	TNRC6A (N185K +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 6 +1 more	GBenign
Select item 1342237	NM_014494.4(TNRC6A):c.1774G>A (p.Ala592Thr)	TNRC6A (A592T +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 6 +1 more	GBenign
Select item 1342238	NM_014494.4(TNRC6A):c.2016C>T (p.Ser672=)	TNRC6A	Single nucleotide variant (synonymous variant)	Epilepsy, familial adult myoclonic, 6 +1 more	GBenign
Select item 1342239	NM_014494.4(TNRC6A):c.2362C>T (p.Pro788Ser)	TNRC6A (P788S +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 6 +1 more	GBenign
Select item 1342240	NM_014494.4(TNRC6A):c.4122+20A>G	TNRC6A	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 6 +1 more	GBenign

ClinVar