Related gene-specific medical variations for Gene (Select 55689) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191457	NM_018023.5(YEATS2):c.4046G>A (p.Arg1349Lys)	YEATS2, YEATS2-AS1 (R1350K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2665022	NM_018023.5(YEATS2):c.1671G>C (p.Leu557Phe)	YEATS2 (L557F +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 4	GUncertain significance
Select item 2598361	NM_018023.5(YEATS2):c.4022C>T (p.Thr1341Ile)	YEATS2, YEATS2-AS1 (T1341I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312235	NM_018023.5(YEATS2):c.4033G>A (p.Val1345Met)	YEATS2, YEATS2-AS1 (V1345M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2239252	NM_018023.5(YEATS2):c.4162A>G (p.Ile1388Val)	LOC126806889, YEATS2 (I1388V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701748	NM_018023.5(YEATS2):c.4087G>A (p.Ala1363Thr)	YEATS2, YEATS2-AS1 (A1363T +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 4	GUncertain significance
Select item 1701735	NM_018023.5(YEATS2):c.444C>G (p.Asp148Glu)	YEATS2 (D148E)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 4	GUncertain significance
Select item 694503	NG_054747.1:g.(19392_19426)TTTTA[(7_?)]TTTCA[(n)]	YEATS2	Microsatellite	Epilepsy, familial adult myoclonic, 4	GPathogenic