"3billion"[submitter] AND "GALNS"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048357	NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)	GALNS (P235R +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 93163	NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)	GALNS (A392V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic
Select item 1075449	NM_000512.5(GALNS):c.711_714dup (p.Val239fs)	GALNS (V239fs +2 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1687514	NM_000512.5(GALNS):c.472G>T (p.Glu158Ter)	GALNS (E158* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
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	GConflicting classifications of pathogenicity
Select item 520618	NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)	GALNS (R90W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1333200	NM_000512.5(GALNS):c.143T>C (p.Val48Ala)	GALNS (V48A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 528320	NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)	GALNS, LOC130059762 +1 more (L36R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic