"IDS-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050991	NM_000202.8(IDS):c.*1G>C	IDS	Single nucleotide variant (3 prime UTR variant)	IDS-related disorder	GLikely benign
Select item 1089630	NM_000202.8(IDS):c.1608T>C (p.Tyr536=)	IDS	Single nucleotide variant (synonymous variant)	IDS-related disorder +1 more	GLikely benign
Select item 590213	NM_000202.8(IDS):c.1074C>G (p.Pro358=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant)	IDS-related disorder +3 more	GBenign/Likely benign
Select item 2632217	NM_000202.8(IDS):c.938G>A (p.Arg313His)	IDS, LOC106050102 (R223H +1 more)	Single nucleotide variant (missense variant +1 more)	IDS-related disorder	GUncertain significance
Select item 771625	NM_000202.8(IDS):c.937C>T (p.Arg313Cys)	IDS, LOC106050102 (R313C +1 more)	Single nucleotide variant (missense variant +1 more)	IDS-related disorder +1 more	GBenign/Likely benign
Select item 733577	NM_000202.8(IDS):c.849G>C (p.Val283=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	IDS-related disorder +2 more	GBenign/Likely benign
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 589014	NM_000202.8(IDS):c.753C>T (p.Pro251=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	IDS-related disorder +2 more	GBenign/Likely benign
Select item 457355	NM_000202.8(IDS):c.727C>T (p.Pro243Ser)	IDS, LOC106050102 (P243S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3044406	NM_000202.8(IDS):c.709-652C>T	IDS, LOC106050102	Single nucleotide variant (intron variant)	IDS-related disorder	GBenign
Select item 1275894	NM_000202.8(IDS):c.709-661del	IDS, LOC106050102	Deletion (intron variant)	not provided +1 more	GBenign
Select item 697822	NM_000202.8(IDS):c.666C>T (p.Ala222=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	IDS-related disorder +2 more	GBenign/Likely benign
Select item 457354	NM_000202.8(IDS):c.465T>A (p.Phe155Leu)	IDS, LOC106050102 (F155L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 2440848	NM_000202.8(IDS):c.353C>T (p.Thr118Ile)	IDS (T118I +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GLikely pathogenic
Select item 195036	NM_000202.8(IDS):c.104A>G (p.Asp35Gly)	IDS (D35G)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity