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Items: 1 to 100 of 202

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSB
Single nucleotide variant
(stop lost)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(stop lost)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Deletion
(inframe_deletion)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(P531R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(T526fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ARSB
(C521Y)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(V512fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(Y513*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(Q503*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
(L498P)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(I494fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(P492fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(D486V)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(R484G)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(E483D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARSB
(P481L)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(L472P)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(S465*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(S464*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(Q456*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
(W450C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ARSB
(W450L)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(C447F)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(C447S)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARSB
(G446R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(G446S)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(P445L)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(T442M)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+1 more
GConflicting classifications of pathogenicity
ARSB
(K439E)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(R434I)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(H430R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(H430N)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(H430fs)
Duplication
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(T427fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(E421*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
(C405Y)
Single nucleotide variant
(missense variant)
Metachromatic leukodystrophy
+2 more
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(S403fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
(S403*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
(F399L)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
(F399L)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(H393R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(H393P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARSB
(E390K)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
(R388T)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(R388fs)
Duplication
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(S384N)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+2 more
GBenign
ARSB, LOC123497917
+2 more
Deletion
Mucopolysaccharidosis type 6
GPathogenic
ARSB
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
Deletion
(splice acceptor variant +1 more)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
(W377*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
(V376E)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(D372G)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(L360P)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(V358M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ARSB
(W353*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
(W353R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(S351F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
ARSB
(I350F)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(E346fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
(N344K)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(K343M)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(S334I)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(V332G)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(R327*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
(G324V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ARSB
(W322*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
(L321P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ARSB
(S320R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+1 more
GConflicting classifications of pathogenicity
ARSB
(R315P)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(R315Q)
Single nucleotide variant
(missense variant)
ARSB-related condition
+2 more
GPathogenic/Likely pathogenic
ARSB
(R315*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
(P313S)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(P313A)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
(G308E)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(G308R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(G303E)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
(G302R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(N301K)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(D300E)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(D300E)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB, LOC129994124
+1 more
Deletion
Mucopolysaccharidosis type 6
GPathogenic
ARSB
(I296N)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(I296fs)
Duplication
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(G268V)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(Y266S)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(N262fs)
Duplication
(frameshift variant)
not provided
+1 more
GLikely pathogenic
ARSB
(Y255*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
(E250fs)
Indel
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(E250fs)
Indel
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(Y251*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ARSB
(P248fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GPathogenic
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