"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATXN2"[ge - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2643319	NM_001372574.1(ATXN2):c.2848C>T (p.Pro950Ser)	ATXN2 (P843S +2 more)	Single nucleotide variant (missense variant +2 more)	ATXN2-related disorder +1 more	GLikely benign
Select item 210509	NM_001372574.1(ATXN2):c.2526A>G (p.Val842=)	ATXN2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3044160	NM_001372574.1(ATXN2):c.2525-7del	ATXN2	Deletion (intron variant)	ATXN2-related disorder	GBenign
Select item 3047600	NM_001372574.1(ATXN2):c.2448A>G (p.Pro816=)	ATXN2	Single nucleotide variant (synonymous variant +1 more)	ATXN2-related disorder	GLikely benign
Select item 3039293	NM_001372574.1(ATXN2):c.2097G>A (p.Pro699=)	ATXN2	Single nucleotide variant (synonymous variant +1 more)	ATXN2-related disorder	GLikely benign
Select item 1048831	NM_001372574.1(ATXN2):c.992A>G (p.Asn331Ser)	ATXN2 (N202S +2 more)	Single nucleotide variant (missense variant +1 more)	ATXN2-related disorder	GLikely benign
Select item 3050481	NM_001372574.1(ATXN2):c.789-8T>C	ATXN2	Single nucleotide variant (intron variant)	ATXN2-related disorder	GLikely benign
Select item 3045503	NM_001372574.1(ATXN2):c.60del (p.Gln20fs)	ATXN2, LOC130008791 (Q20fs)	Deletion (frameshift variant +2 more)	ATXN2-related disorder	GLikely benign
Select item 3043122	NM_001372574.1(ATXN2):c.42_58del (p.Gln15fs)	ATXN2, LOC130008791 (Q15fs)	Deletion (frameshift variant +2 more)	ATXN2-related disorder	GLikely benign
Select item 3055440	NM_001372574.1(ATXN2):c.42del (p.Gln14fs)	ATXN2 (Q14fs)	Deletion (frameshift variant +2 more)	ATXN2-related disorder	GLikely benign
Select item 3039238	NM_001372574.1(ATXN2):c.36_40del (p.Gln13fs)	ATXN2 (Q13fs)	Deletion (frameshift variant +2 more)	ATXN2-related disorder	GLikely benign
Select item 3043166	NM_001372574.1(ATXN2):c.-154C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	ATXN2-related disorder	GBenign