ClinVar for MedGen (Select 167107) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664040	NM_001025356.3(ANO6):c.1622G>A (p.Arg541Lys)	ANO6 (R523K +3 more)	Single nucleotide variant (missense variant)	SCOTT SYNDROME	GUncertain significance
Select item 2627032	NM_001025356.3(ANO6):c.2660C>T (p.Thr887Met)	ANO6 (T869M +3 more)	Single nucleotide variant (missense variant +1 more)	SCOTT SYNDROME	GUncertain significance
Select item 2626770	NM_001025356.3(ANO6):c.1255C>T (p.Arg419Ter)	ANO6 (R401* +2 more)	Single nucleotide variant (nonsense)	SCOTT SYNDROME	GPathogenic
Select item 2584647	NM_001025356.3(ANO6):c.1219dup (p.Trp407fs)	ANO6 (W389fs +3 more)	Duplication (frameshift variant)	SCOTT SYNDROME	GPathogenic
Select item 2584646	NM_001025356.3(ANO6):c.747+1G>A	ANO6	Single nucleotide variant (splice donor variant)	SCOTT SYNDROME	GPathogenic
Select item 2584645	NC_000012.12:g.(?_45216094)_(45367794_45378052)del	ANO6, LOC130007724 +1 more	Deletion	SCOTT SYNDROME	GPathogenic
Select item 2584644	NM_001025356.3(ANO6):c.826C>T (p.Arg276Ter)	ANO6 (R297* +3 more)	Single nucleotide variant (nonsense)	SCOTT SYNDROME	GPathogenic
Select item 1323913	NM_001025356.3(ANO6):c.1914_1915del (p.Arg638fs)	ANO6 (R620fs +2 more)	Microsatellite (frameshift variant)	SCOTT SYNDROME	GLikely pathogenic
Select item 1323277	NM_001025356.3(ANO6):c.1308+2T>C	ANO6	Single nucleotide variant (splice donor variant)	SCOTT SYNDROME	GPathogenic
Select item 1323274	NM_001025356.3(ANO6):c.1880+1G>A	ANO6	Single nucleotide variant (splice donor variant)	ANO6-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 449565	NM_001025356.3(ANO6):c.1387-1G>T	ANO6	Single nucleotide variant (splice acceptor variant)	SCOTT SYNDROME +2 more	GPathogenic