"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379956	NM_025233.7(COASY):c.164C>A (p.Ser55Tyr)	COASY (S55Y +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1251793	NM_025233.7(COASY):c.915+42C>T	COASY	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 379957	NM_025233.7(COASY):c.972A>G (p.Thr324=)	COASY	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia, type 12 +3 more	GBenign

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