"Revvity Omics, Revvity"[submitter] AND "MCOLN1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323272	NM_020533.3(MCOLN1):c.278del (p.Phe93fs)	MCOLN1 (F93fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 2433678	NM_020533.3(MCOLN1):c.1002G>T (p.Met334Ile)	MCOLN1 (M334I)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
Select item 2441360	NM_020533.3(MCOLN1):c.1034G>A (p.Trp345Ter)	MCOLN1 (W345*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GLikely pathogenic

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