"Lifecell International Pvt. Ltd"[submitter] AND "HGSNAT"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551378	NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)	HGSNAT (R344H +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GPathogenic/Likely pathogenic
Select item 1374201	NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter)	HGSNAT (Y441* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic/Likely pathogenic