"PreventionGenetics, part of Exact Sciences"[submitter] AND "TOP1"[gen - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035753	NM_003286.4(TOP1):c.585G>A (p.Pro195=)	TOP1	Single nucleotide variant (synonymous variant)	TOP1-related disorder	GLikely benign
Select item 713745	NM_003286.4(TOP1):c.594A>G (p.Glu198=)	TOP1	Single nucleotide variant (synonymous variant)	TOP1-related disorder +1 more	GBenign
Select item 3046725	NM_003286.4(TOP1):c.1446C>T (p.Ile482=)	PLCG1-AS1, TOP1	Single nucleotide variant (synonymous variant)	TOP1-related disorder	GLikely benign
Select item 3039907	NM_003286.4(TOP1):c.1875T>C (p.Ala625=)	PLCG1-AS1, TOP1	Single nucleotide variant (synonymous variant)	TOP1-related disorder	GLikely benign
Select item 749280	NM_003286.4(TOP1):c.2040G>A (p.Thr680=)	PLCG1-AS1, TOP1	Single nucleotide variant (synonymous variant)	TOP1-related disorder +1 more	GBenign/Likely benign

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