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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENC1, ERAP1
+690 more
Copy number gain
See cases
GPathogenic
ARSB
Single nucleotide variant
Mucopolysaccharidosis type 6
GLikely benign
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GBenign
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GBenign
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GBenign
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GBenign
ARSB
Duplication
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Duplication
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GLikely benign
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GBenign
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Duplication
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Deletion
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Duplication
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GBenign
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Duplication
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GBenign
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GBenign
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis type 6
+1 more
GBenign/Likely benign
ARSB
Single nucleotide variant
(stop lost)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
Single nucleotide variant
(stop lost)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
Single nucleotide variant
(stop lost)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Deletion
(inframe_deletion)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
(W532*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
ARSB
(P531R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARSB
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GLikely benign
ARSB
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GLikely benign
ARSB
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GLikely benign
ARSB
(T526fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ARSB
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GLikely benign
ARSB
(C521Y)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GLikely benign
ARSB
(R520fs)
Duplication
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(R520H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARSB
(R520C)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
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