ClinVar (all) for Orgtrack (Select 505575) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 221979	NM_000202.7(IDS):c.-217_103del320	IDS, LOC130068781	Deletion	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221978	NM_000202.8(IDS):c.1006+1G>T	IDS, LOC106050102	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221977	NM_000202.8(IDS):c.508-1G>C	IDS, LOC106050102	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221976	NM_000202.8(IDS):c.1463del (p.Met488fs)	IDS (M398fs +1 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221975	NM_000202.8(IDS):c.1132_1133del (p.Phe378fs)	IDS, LOC106050102 (F288fs +1 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221974	NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer)	IDS, LOC106050102	Deletion (nonsense +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221973	NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs)	LOC106050102, IDS (F155fs +1 more)	Indel (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221972	NM_000202.8(IDS):c.1025A>C (p.His342Pro)	IDS, LOC106050102 (H342P +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 221971	NM_000202.8(IDS):c.1003C>T (p.His335Tyr)	LOC106050102, IDS (H335Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 221970	NM_000202.8(IDS):c.133G>C (p.Asp45His)	IDS (D45H)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic