"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATXN8OS"[ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059673	NM_020866.3(KLHL1):c.234A>G (p.Ser78=)	ATXN8OS, KLHL1	Single nucleotide variant (synonymous variant +1 more)	KLHL1-related disorder	GBenign
Select item 3039641	NM_020866.3(KLHL1):c.183G>C (p.Glu61Asp)	ATXN8OS, KLHL1 (E61D)	Single nucleotide variant (missense variant +1 more)	KLHL1-related disorder	GBenign
Select item 3052204	NM_020866.3(KLHL1):c.91G>T (p.Gly31Cys)	ATXN8OS, KLHL1 (G31C)	Single nucleotide variant (missense variant +1 more)	KLHL1-related disorder	GLikely benign
Select item 3039726	NM_020866.3(KLHL1):c.87C>G (p.Thr29=)	ATXN8OS, KLHL1	Single nucleotide variant (synonymous variant +1 more)	KLHL1-related disorder	GLikely benign
Select item 3036741	NR_002717.2(ATXN8OS):n.856C>T	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GLikely benign
Select item 3036411	NR_002717.2(ATXN8OS):n.966T>C	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GLikely benign
Select item 3038111	NR_002717.2(ATXN8OS):n.1013G>A	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GLikely benign
Select item 3039106	NR_002717.2(ATXN8OS):n.1099_1116del18	ATXN8OS, LOC109461478	Deletion (non-coding transcript variant)	ATXN8OS-related disorder	GBenign
Select item 3037996	NR_002717.2(ATXN8OS):n.1108G>A	ATXN8OS, LOC109461478	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GBenign
Select item 3055690	NR_002717.2(ATXN8OS):n.1109_1110delCT	ATXN8OS, LOC109461478	Deletion (non-coding transcript variant)	ATXN8OS-related disorder	GBenign
Select item 3059813	NR_002717.2(ATXN8OS):n.1111G>A	ATXN8OS, LOC109461478	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GBenign
Select item 3045936	NR_002717.2(ATXN8OS):n.1155T>A	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GLikely benign
Select item 3056715	NR_002717.2(ATXN8OS):n.1212C>T	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GBenign
Select item 3057207	NR_002717.2(ATXN8OS):n.1464A>G	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related disorder	GLikely benign