"Centogene AG - the Rare Disease Company"[submitter] AND "GALNS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800974	NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)	GALNS, LOC126862447 (A492T +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 18403	NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)	GALNS (G340D +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic
Select item 973574	NM_000512.5(GALNS):c.498C>G (p.His166Gln)	GALNS (H172Q +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 873056	NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)	GALNS (P157L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 800975	NM_000512.5(GALNS):c.423-862C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1333859	NM_000512.5(GALNS):c.121-202A>G	GALNS (E46G)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance

ClinVar