"Revvity Omics, Revvity"[submitter] AND "NEU1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324798	NM_000434.4(NEU1):c.947del (p.Pro316fs)	NEU1 (P316fs)	Deletion (frameshift variant)	Sialidosis type 2	GLikely pathogenic
Select item 2434328	NM_000434.4(NEU1):c.539C>G (p.Ser180Cys)	NEU1 (S180C)	Single nucleotide variant (missense variant)	Sialidosis type 2	GUncertain significance
Select item 1324799	NM_000434.4(NEU1):c.238C>A (p.Pro80Thr)	NEU1 (P80T)	Single nucleotide variant (missense variant)	Sialidosis type 2	GLikely pathogenic

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