ATXN8OS[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036741	NR_185841.1(ATXN8OS):n.521C>T	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GLikely benign
Select item 2643840	NR_185841.1(ATXN8OS):n.816C>T	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 3036411	NR_002717.3(ATXN8OS):n.758T>C	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GLikely benign
Select item 3038111	NR_002717.3(ATXN8OS):n.805G>A	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GLikely benign
Select item 3045936	NR_002717.3(ATXN8OS):n.947T>A	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GLikely benign
Select item 3056715	NR_002717.3(ATXN8OS):n.1004C>T	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GBenign
Select item 3057207	NR_002717.3(ATXN8OS):n.1256A>G	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GLikely benign
Select item 2643841	NR_185838.1(ATXN8OS):n.983T>C	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2643842	NR_185838.1(ATXN8OS):n.1114G>A	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 157283	Single allele	ATXN8OS	Deletion	Normal pregnancy	Gnot provided
Select item 3257724	NR_002717.2:n.894CTA[(3)]CTG[(317_330)]	ATXN8OS	Microsatellite	Spinocerebellar ataxia type 8	GLikely pathogenic