Related gene-specific medical variations for Gene (Select 196527) - ClinVar

	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 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 1287551	NM_001025356.3(ANO6):c.70+252C>T	ANO6, LOC130007724	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 686413	GRCh37/hg19 12q12(chr12:45776307-45844256)x3	ANO6	Copy number gain	not provided	GUncertain significance
Select item 257144	NM_001025356.3(ANO6):c.1920T>G (p.Ser640=)	ANO6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 145014	GRCh38/hg38 12q12(chr12:45273857-45388630)x1	ANO6	Copy number loss	See cases	GBenign

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