"NxGen MDx"[submitter] AND "LOC106627981"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184271	NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)	GBA1, LOC106627981 (D332N +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 1065557	NM_000157.4(GBA1):c.914C>T (p.Pro305Leu)	GBA1, LOC106627981 (P218L +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic