C0026705[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432691	NM_000202.8(IDS):c.1649C>G (p.Pro550Arg)	IDS (P460R +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 1323089	NM_000202.8(IDS):c.1589T>A (p.Leu530Ter)	IDS (L440* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 996935	NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys)	IDS (Y433C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1878620	NM_000202.8(IDS):c.1494del (p.Arg498fs)	IDS (R408fs +1 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-II	GConflicting classifications of pathogenicity
Select item 1509031	NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)	IDS (P480L +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GConflicting classifications of pathogenicity
Select item 2689230	NM_000202.8(IDS):c.1409C>T (p.Ser470Leu)	IDS (S380L +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 10498	NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)	IDS (R468Q +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic
Select item 2148543	NM_000202.8(IDS):c.1373G>A (p.Arg458His)	IDS (R458H +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GUncertain significance
Select item 2436764	NM_000202.8(IDS):c.1356C>A (p.Tyr452Ter)	IDS (Y362* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2440823	NM_000202.8(IDS):c.1345_1349del (p.Glu449fs)	IDS (E359fs +1 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 997029	NM_000202.8(IDS):c.1181-1G>C	IDS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 633270	NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter)	LOC106050102, IDS (Y348* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 1806363	NM_000202.8(IDS):c.890G>A (p.Arg297His)	IDS, LOC106050102 (R207H +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2436753	NM_000202.8(IDS):c.880-2A>G	IDS, LOC106050102	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2440830	NM_000202.8(IDS):c.877C>T (p.Gln293Ter)	IDS, LOC106050102 (Q203* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 988686	NM_000202.8(IDS):c.829C>T (p.Gln277Ter)	IDS, LOC106050102 (Q187* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2440826	NM_000202.8(IDS):c.794A>T (p.Asn265Ile)	IDS, LOC106050102 (N175I +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1443998	NM_000202.8(IDS):c.785T>A (p.Val262Glu)	IDS, LOC106050102 (V262E +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2440833	NM_000202.8(IDS):c.777dup (p.Pro260fs)	LOC106050102, IDS (P170fs +1 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1361785	NM_000202.8(IDS):c.754G>T (p.Asp252Tyr)	IDS, LOC106050102 (D252Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2440836	NM_000202.8(IDS):c.685C>T (p.His229Tyr)	IDS, LOC106050102 (H139Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 996561	NM_000202.8(IDS):c.683C>T (p.Pro228Leu)	IDS, LOC106050102 (P138L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 1028128	NM_000202.8(IDS):c.525T>A (p.Asp175Glu)	IDS, LOC106050102 (D85E +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
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 286895	NM_000202.8(IDS):c.301C>T (p.Arg101Cys)	IDS (R101C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440838	NM_000202.8(IDS):c.285_287del (p.Arg96del)	IDS (R96del)	Deletion (inframe_deletion +1 more)	Mucopolysaccharidosis, MPS-II	GLikely 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 527322	NM_000202.8(IDS):c.257C>T (p.Pro86Leu)	IDS (P86L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II +1 more	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 2436768	NM_000202.8(IDS):c.241C>T (p.Gln81Ter)	IDS (Q81*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 1324564	NM_000202.8(IDS):c.241-3C>G	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 588641	NM_000202.8(IDS):c.236C>T (p.Ala79Val)	IDS (A79V +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GUncertain significance
Select item 2432689	NM_000202.8(IDS):c.200T>C (p.Leu67Pro)	IDS (L67P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2432693	NM_000202.8(IDS):c.119T>C (p.Leu40Pro)	IDS (L40P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2432692	NM_000202.8(IDS):c.116T>A (p.Val39Asp)	IDS (V39D)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2440852	NM_000202.8(IDS):c.111_112insGA (p.Asn38fs)	IDS (N38fs)	Insertion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1324563	NM_000202.8(IDS):c.104-2A>G	IDS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic

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Items: 37