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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSB
Single nucleotide variant
(stop lost)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
(R484G)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(E461*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(C405Y)
Single nucleotide variant
(missense variant)
Metachromatic leukodystrophy
+2 more
GPathogenic/Likely pathogenic
ARSB
(S403*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(V342M)
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
(R327Q)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(S320R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ARSB
(G308E)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(T305I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARSB
(G302P)
Inversion
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(Y251*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
+1 more
GPathogenic
ARSB
(I223V)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(Y210C)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+2 more
GPathogenic
ARSB
(R180C)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(Y175H)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+1 more
GUncertain significance
ARSB
(R152W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ARSB
(H147P)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(W115*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB, LOC129994126
Deletion
(splice donor variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(C91G)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(Y86del)
Microsatellite
(inframe_deletion)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(L72R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(D59G)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
Microsatellite
(inframe_insertion)
Mucopolysaccharidosis type 6
GUncertain significance
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