"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 256871	NM_000157.4(GBA1):c.1225-34C>A	GBA1, LOC106627981	Single nucleotide variant (intron variant)	Gaucher disease type I +3 more	GBenign
Select item 828082	NM_000157.4(GBA1):c.1000-81A>C	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 256873	NM_000157.4(GBA1):c.454+47G>A	GBA1, LOC106627981	Single nucleotide variant (intron variant)	Gaucher disease type I +2 more	GBenign

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