"Revvity Omics, Revvity"[submitter] AND "LOC106050102"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633270	NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter)	IDS, LOC106050102 (Y348* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 1806363	NM_000202.8(IDS):c.890G>A (p.Arg297His)	IDS, LOC106050102 (R207H +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2436753	NM_000202.8(IDS):c.880-2A>G	IDS, LOC106050102	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2440830	NM_000202.8(IDS):c.877C>T (p.Gln293Ter)	IDS, LOC106050102 (Q203* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 988686	NM_000202.8(IDS):c.829C>T (p.Gln277Ter)	IDS, LOC106050102 (Q187* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2440826	NM_000202.8(IDS):c.794A>T (p.Asn265Ile)	IDS, LOC106050102 (N175I +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1443998	NM_000202.8(IDS):c.785T>A (p.Val262Glu)	IDS, LOC106050102 (V262E +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2440833	NM_000202.8(IDS):c.777dup (p.Pro260fs)	LOC106050102, IDS (P170fs +1 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1361785	NM_000202.8(IDS):c.754G>T (p.Asp252Tyr)	IDS, LOC106050102 (D252Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2440836	NM_000202.8(IDS):c.685C>T (p.His229Tyr)	IDS, LOC106050102 (H139Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 996561	NM_000202.8(IDS):c.683C>T (p.Pro228Leu)	IDS, LOC106050102 (P138L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 1028128	NM_000202.8(IDS):c.525T>A (p.Asp175Glu)	IDS, LOC106050102 (D85E +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GConflicting classifications of pathogenicity