C0086651[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048343	NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)	GALNS (C316S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 2627396	NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)	LOC126862447, GALNS (E278* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 2663939	NM_000512.5(GALNS):c.1374dup (p.Ala459fs)	GALNS, LOC126862447 (A274fs +2 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 873055	NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)	GALNS (L356P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048432	NM_000512.5(GALNS):c.1003-3C>G	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 1048222	NM_000512.5(GALNS):c.938C>T (p.Thr313Met)	GALNS (T128M +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 2584940	NM_000512.5(GALNS):c.779A>T (p.Glu260Val)	GALNS (E266V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048459	NM_000512.5(GALNS):c.448C>T (p.His150Tyr)	GALNS (H150Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1698516	NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)	GALNS (P125Q +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 1048270	NM_000512.5(GALNS):c.326C>T (p.Thr109Ile)	GALNS (T109I +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 873059	NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)	GALNS (C79R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 856567	NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)	GALNS (P83R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic