"GeneDx"[submitter] AND "ANO6"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1287551	NM_001025356.3(ANO6):c.70+252C>T	ANO6, LOC130007724	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280858	NM_001025356.3(ANO6):c.71-31584G>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 145014	GRCh38/hg38 12q12(chr12:45273857-45388630)x1	ANO6	Copy number loss	See cases	GBenign
Select item 1253693	NM_001025356.3(ANO6):c.71-8817A>C	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263239	NM_001025356.3(ANO6):c.71-62C>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257139	NM_001025356.3(ANO6):c.102C>T (p.Pro34=)	ANO6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1290375	NM_001025356.3(ANO6):c.151-289G>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248414	NM_001025356.3(ANO6):c.747+103A>G	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273514	NM_001025356.3(ANO6):c.1165+138G>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278877	NM_001025356.3(ANO6):c.1386+242dup	ANO6	Duplication (intron variant)	not provided	GBenign
Select item 1228600	NM_001025356.3(ANO6):c.1387-66C>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449565	NM_001025356.3(ANO6):c.1387-1G>T	ANO6	Single nucleotide variant (splice acceptor variant)	ANO6-related disorder +2 more	GPathogenic
Select item 257143	NM_001025356.3(ANO6):c.1783-13T>C	ANO6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1279091	NM_001025356.3(ANO6):c.1880+104T>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272450	NM_001025356.3(ANO6):c.1881-31G>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241515	NM_001025356.3(ANO6):c.2011+300A>G	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262129	NM_001025356.3(ANO6):c.2217+247G>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258071	NM_001025356.3(ANO6):c.2218-262_2218-249del	ANO6	Microsatellite (intron variant)	not provided	GBenign
Select item 1273771	NM_001025356.3(ANO6):c.2218-84G>C	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249369	NM_001025356.3(ANO6):c.2421-289G>A	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220656	NM_001025356.3(ANO6):c.2421-258A>G	ANO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2166115	NM_001025356.3(ANO6):c.2572G>A (p.Asp858Asn)	ANO6 (D847N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1253221	NM_001142679.2(ANO6):c.2527-8del	ANO6	Deletion (intron variant)	not provided	GBenign
Select item 1279291	NM_001142679.2(ANO6):c.*34G>A	ANO6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 24