Related gene-specific medical variations for Gene (Select 27327) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701693	NM_014494.4(TNRC6A):c.136AAG[1] (p.Lys47del)	TNRC6A (K47del +1 more)	Microsatellite (inframe_deletion)	Epilepsy, familial adult myoclonic, 6	GUncertain significance
Select item 1696478	NM_014494.4(TNRC6A):c.3838-10G>T	TNRC6A	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 6	GUncertain significance
Select item 559390	TNRC6A, 5-BP INS, TTTCA(n) REPEAT EXPANSION	TNRC6A	Microsatellite	Epilepsy, familial adult myoclonic, 6	GPathogenic

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