C3554226[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2437176	NM_025077.4(TOE1):c.20A>G (p.Asp7Gly)	MUTYH, TOE1 (D7G)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 7	GUncertain significance
Select item 1474361	NM_025077.4(TOE1):c.940C>G (p.Gln314Glu)	TOE1 (Q314E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1325214	NM_025077.4(TOE1):c.1018C>T (p.Arg340Ter)	TOE1 (R340*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 7	GLikely pathogenic

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