"IIFP, CONICET-UNLP"[submitter] AND "IDS"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 221204	NM_000202.8(IDS):c.1433A>G (p.Asp478Gly)	IDS (D478G +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 221203	NM_000202.6(IDS):c.[1403G>A;1394A>T]	IDS (R468Q +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 10498	NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)	IDS (R468Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 10497	NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)	IDS (R468W +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic/Likely pathogenic
Select item 221202	NM_000202.8(IDS):c.1393C>T (p.Gln465Ter)	IDS (Q465* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic
Select item 10486	NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)	IDS (R443* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic
Select item 221218	NM_000202.8(IDS):c.1181-1G>A	IDS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 10491	NM_000202.8(IDS):c.1122C>T (p.Gly374=)	LOC106050102, IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic/Likely pathogenic
Select item 221201	NM_000202.8(IDS):c.1033T>A (p.Trp345Arg)	IDS, LOC106050102 (W345R +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 221200	NM_000202.8(IDS):c.1016T>C (p.Leu339Pro)	IDS, LOC106050102 (L339P +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 10487	NM_000202.8(IDS):c.998C>T (p.Ser333Leu)	IDS, LOC106050102 (S333L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic
Select item 221213	NM_000202.8(IDS):c.935G>A (p.Gly312Asp)	IDS, LOC106050102 (G312D +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 221217	NM_000202.8(IDS):c.908_909del (p.Ser303fs)	IDS, LOC106050102 (S213fs +1 more)	Microsatellite (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221212	NM_000202.8(IDS):c.884A>T (p.Lys295Ile)	IDS, LOC106050102 (K295I +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GConflicting classifications of pathogenicity
Select item 221214	NM_000202.8(IDS):c.820G>T (p.Glu274Ter)	LOC106050102, IDS (E274* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221221	NM_000202.8(IDS):c.708+1G>A	IDS, LOC106050102	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 221211	NM_000202.8(IDS):c.683C>A (p.Pro228Gln)	IDS, LOC106050102 (P228Q +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
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 221223	NM_000202.8(IDS):c.613G>C (p.Ala205Pro)	IDS, LOC106050102 (A205P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221210	NM_000202.8(IDS):c.592G>A (p.Asp198Asn)	LOC106050102, IDS (D198N +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 221220	NM_000202.8(IDS):c.508-1G>A	IDS, LOC106050102	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221209	NM_000202.8(IDS):c.469C>T (p.Pro157Ser)	LOC106050102, IDS (P157S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 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 221208	NM_000202.8(IDS):c.425C>A (p.Ser142Tyr)	IDS, LOC106050102 (S142Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 221216	NM_000202.8(IDS):c.411del (p.His138fs)	IDS (H138fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221207	NM_000202.8(IDS):c.401G>A (p.Gly134Glu)	IDS (G134E +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 221206	NM_000202.8(IDS):c.359C>A (p.Pro120His)	IDS (P120H +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 92617	NM_000202.8(IDS):c.253G>A (p.Ala85Thr)	IDS (A85T)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic/Likely pathogenic
Select item 221219	NM_000202.8(IDS):c.241-5A>T	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GConflicting classifications of pathogenicity
Select item 221222	NM_000202.8(IDS):c.191T>A (p.Ile64Asn)	IDS (I64N)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221205	NM_000202.8(IDS):c.181T>C (p.Ser61Pro)	IDS (S61P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic/Likely pathogenic
Select item 221215	NM_000202.8(IDS):c.22_37del (p.Arg8fs)	IDS, LOC130068781 (R8fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-II	GPathogenic

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Items: 32