"Genetic Services Laboratory, University of Chicago"[submitter] AND "A - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 210508	NM_001372574.1(ATXN2):c.940G>A (p.Val314Ile)	ATXN2 (V185I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 128509	NM_001372574.1(ATXN2):c.42G>A (p.Gln14=)	ATXN2	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 128508	NM_001372574.1(ATXN2):c.-91C>T	LOC130008792, ATXN2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 128507	NM_001372574.1(ATXN2):c.-162C>G	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign

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