"Clinical Genetics, Academic Medical Center"[submitter] AND "ACO2"[gen - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 377425	NM_001098.3(ACO2):c.231C>T (p.Pro77=)	ACO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 509931	NM_001098.3(ACO2):c.282C>T (p.Asp94=)	ACO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 797910	NM_001098.3(ACO2):c.1113A>G (p.Glu371=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748700	NM_001098.3(ACO2):c.1986C>T (p.Asp662=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

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