"Pediatrics, All India Institute of Medical Sciences, New Delhi"[submi - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065846	NM_000202.8(IDS):c.1506G>T (p.Trp502Cys)	IDS (W412C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GAffects
Select item 1065519	NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs)	IDS (I397fs +1 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1065198	NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs)	IDS (S391fs +1 more)	Indel (frameshift variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 10497	NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)	IDS (R468W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1065331	NM_000202.8(IDS):c.1375G>T (p.Glu459Ter)	IDS (E369* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1065330	NM_000202.8(IDS):c.1254del (p.Pro419fs)	IDS (P329fs +1 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1065197	NM_000202.8(IDS):c.1249C>T (p.Gln417Ter)	IDS (Q327* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 221218	NM_000202.8(IDS):c.1181-1G>A	IDS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 10491	NM_000202.8(IDS):c.1122C>T (p.Gly374=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 997024	NM_000202.8(IDS):c.1006+1G>A	IDS, LOC106050102	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)	not provided +1 more	GPathogenic
Select item 1065311	NM_000202.8(IDS):c.922G>C (p.Asp308His)	IDS, LOC106050102 (D218H +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 427181	NM_000202.8(IDS):c.806A>T (p.Asp269Val)	IDS, LOC106050102 (D269V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1065831	NM_000202.8(IDS):c.801G>T (p.Trp267Cys)	IDS, LOC106050102 (W177C +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1065312	NM_000202.8(IDS):c.737del (p.Asn246fs)	IDS, LOC106050102 (N156fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1065825	NM_000202.8(IDS):c.692C>T (p.Pro231Leu)	IDS, LOC106050102 (P141L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 968377	NM_000202.8(IDS):c.596_599del (p.Lys199fs)	IDS, LOC106050102 (K199fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
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 1065348	NM_000202.8(IDS):c.356del (p.Ile119fs)	IDS (I119fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
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 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 1065181	NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter)	IDS (S69*)	Insertion (nonsense +2 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1065845	NM_000202.8(IDS):c.182C>T (p.Ser61Phe)	IDS (S61F)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GAffects
Select item 1065310	NM_000202.8(IDS):c.121_123del (p.Leu41del)	IDS (L41del)	Deletion (inframe_deletion +2 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance

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Items: 24