"Clinical Genetics, Academic Medical Center"[submitter] AND "IDS"[gene - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 946154	NM_000202.8(IDS):c.1024C>T (p.His342Tyr)	IDS, LOC106050102 (H342Y +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 698195	NM_000202.8(IDS):c.825C>T (p.Asp275=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	IDS-related disorder +2 more	GBenign/Likely benign
Select item 425514	NM_000202.8(IDS):c.754G>A (p.Asp252Asn)	IDS, LOC106050102 (D252N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 92622	NM_000202.8(IDS):c.641C>T (p.Thr214Met)	LOC106050102, IDS (T214M +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +3 more	GConflicting classifications of pathogenicity
Select item 92619	NM_000202.8(IDS):c.438C>T (p.Thr146=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II +3 more	GBenign
Select item 197122	NM_000202.8(IDS):c.419-16dup	IDS, LOC106050102	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 558997	NM_000202.8(IDS):c.419-6del	IDS, LOC106050102	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1164460	NM_000202.8(IDS):c.418+12T>C	IDS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign