"GeneDx"[submitter] AND "ATXN2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 382319	NM_001372574.1(ATXN2):c.1856A>T (p.Glu619Val)	ATXN2 (E514V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1317079	NM_001372574.1(ATXN2):c.-89C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 253882	GRCh37/hg19 12q24.12(chr12:111965765-112147523)x1	ATXN2, BRAP +1 more	Copy number loss	See cases	GUncertain significance

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