C0085132[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432339	NM_000181.4(GUSB):c.1883A>C (p.Lys628Thr)	GUSB (K409T +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 907	NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)	GUSB (W627C +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7 +2 more	GLikely pathogenic
Select item 2440635	NM_000181.4(GUSB):c.1783del (p.Glu595fs)	GUSB (E376fs +3 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 1679185	NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg)	GUSB (G364R +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2432345	NM_000181.4(GUSB):c.1742T>C (p.Val581Ala)	GUSB (V362A +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2432351	NM_000181.4(GUSB):c.1614G>C (p.Gln538His)	GUSB, LOC126860055 (Q319H +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2440645	NM_000181.4(GUSB):c.1476_1476+13del	GUSB	Deletion (splice donor variant)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 2432346	NM_000181.4(GUSB):c.1468G>A (p.Asp490Asn)	GUSB (D271N +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2432341	NM_000181.4(GUSB):c.1415C>A (p.Ser472Tyr)	GUSB (S253Y +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2432340	NM_000181.4(GUSB):c.1285G>A (p.Val429Met)	GUSB (V210M +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2432342	NM_000181.4(GUSB):c.1232G>A (p.Gly411Asp)	GUSB (G192D +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2432343	NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)	GUSB (R179C +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GConflicting classifications of pathogenicity
Select item 92584	NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)	GUSB (D362N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2689182	NM_000181.4(GUSB):c.1046A>G (p.Asn349Ser)	GUSB (N130S +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 1699758	NM_000181.4(GUSB):c.896A>G (p.Tyr299Cys)	GUSB (Y109C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2432349	NM_000181.4(GUSB):c.875T>C (p.Leu292Pro)	GUSB (L102P +2 more)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 1470422	NM_000181.4(GUSB):c.805G>C (p.Val269Leu)	GUSB (V269L +2 more)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2432338	NM_000181.4(GUSB):c.582-3T>G	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 905	NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)	GUSB (L176F)	Single nucleotide variant (missense variant +2 more)	GUSB-related disorder +3 more	GPathogenic
Select item 2432344	NM_000181.4(GUSB):c.430G>T (p.Gly144Trp)	GUSB (G144W)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2432347	NM_000181.4(GUSB):c.388G>A (p.Ala130Thr)	GUSB (A130T +2 more)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 1991648	NM_000181.4(GUSB):c.383C>T (p.Ser128Phe)	GUSB (S128F)	Single nucleotide variant (missense variant +3 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 501147	NM_000181.4(GUSB):c.328C>T (p.Arg110Ter)	GUSB (R110*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis type 7 +1 more	GPathogenic
Select item 2432348	NM_000181.4(GUSB):c.229A>G (p.Met77Val)	GUSB (M77V)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 1378082	NM_000181.4(GUSB):c.38G>A (p.Gly13Glu)	GUSB (G13E)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7	GUncertain significance

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Items: 25