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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSB
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(I220V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ARSB
(R159C)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(G144R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
(G137S)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
Deletion
(inframe_deletion)
Mucopolysaccharidosis type 6
+2 more
GBenign/Likely benign
ARSB, LOC129994126
(P3S)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
Single nucleotide variant
(5 prime UTR variant)
Mucopolysaccharidosis type 6
GUncertain significance
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