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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ARSB
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
+2 more
GBenign
ARSB
(H393P)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+1 more
GPathogenic
ARSB
(S384N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ARSB
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ARSB
(V376M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ARSB
(V358M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ARSB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ARSB
(N310D)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GBenign
ARSB
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 6
+2 more
GBenign
ARSB
(A186T)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+2 more
GUncertain significance
ARSB
(A136T)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+2 more
GUncertain significance
ARSB
(R106H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 6
+2 more
GBenign
ARSB, LOC129994126
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARSB, LOC129994126
(G61S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARSB, LOC129994126
Deletion
(inframe_deletion)
Mucopolysaccharidosis type 6
+2 more
GBenign/Likely benign
ARSB, LOC129994126
(L32del)
Microsatellite
(inframe_deletion)
Mucopolysaccharidosis type 6
+1 more
GUncertain significance
ARSB, LOC129994126
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
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