C0026705[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285082	NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)	IDS (Q531* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1070515	NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)	IDS (E431K +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 997034	NM_000202.8(IDS):c.1505G>A (p.Trp502Ter)	IDS (W412* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 985029	NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)	IDS (Y409* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic/Likely pathogenic
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 284860	NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)	IDS (C422Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 638083	NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)	IDS (C422R +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 198996	NM_000202.8(IDS):c.1227G>A (p.Thr409=)	IDS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 568588	NM_000202.8(IDS):c.1144G>C (p.Asp382His)	IDS, LOC106050102 (D382H +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GUncertain significance
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 1285250	NM_000202.8(IDS):c.1007-7G>C	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 997024	NM_000202.8(IDS):c.1006+1G>A	LOC106050102, IDS	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
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 424167	NM_000202.8(IDS):c.934G>A (p.Gly312Ser)	IDS, LOC106050102 (G312S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +2 more	GConflicting classifications of pathogenicity
Select item 425514	NM_000202.8(IDS):c.754G>A (p.Asp252Asn)	IDS, LOC106050102 (D252N +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +2 more	GConflicting classifications of pathogenicity
Select item 996936	NM_000202.8(IDS):c.692C>G (p.Pro231Arg)	IDS, LOC106050102 (P141R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 928995	NM_000202.8(IDS):c.670G>A (p.Gly224Arg)	IDS, LOC106050102 (G134R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 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 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 10490	NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	IDS, LOC106050102 (R172* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-II +2 more	GPathogenic
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 527324	NM_000202.8(IDS):c.419-1G>A	LOC106050102, IDS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 1164460	NM_000202.8(IDS):c.418+12T>C	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II +2 more	GConflicting classifications of pathogenicity
Select item 196233	NM_000202.8(IDS):c.396G>A (p.Ser132=)	IDS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286895	NM_000202.8(IDS):c.301C>T (p.Arg101Cys)	IDS (R101C +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 950955	NM_000202.8(IDS):c.263G>A (p.Arg88His)	IDS (R88H)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 92618	NM_000202.8(IDS):c.262C>T (p.Arg88Cys)	IDS (R88C)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic
Select item 996919	NM_000202.8(IDS):c.257C>G (p.Pro86Arg)	IDS (P86R)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
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 633269	NM_000202.8(IDS):c.238C>T (p.Gln80Ter)	IDS (Q80*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 638078	NM_000202.8(IDS):c.187A>G (p.Asn63Asp)	IDS (N63D)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
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 195036	NM_000202.8(IDS):c.104A>G (p.Asp35Gly)	IDS (D35G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 36