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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
+1 more
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ARSB
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis type 6
+1 more
GConflicting classifications of pathogenicity
ARSB
(D375N)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+1 more
GConflicting classifications of pathogenicity
ARSB
(L321P)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+1 more
GPathogenic
ARSB
(Y251*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
+1 more
GPathogenic
ARSB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARSB
(Y210C)
Single nucleotide variant
(missense variant)
Metachromatic leukodystrophy
+3 more
GPathogenic
LOC129994126, ARSB
Deletion
(inframe_deletion)
not specified
+2 more
GBenign/Likely benign
ARSB, LOC129994126
(A33V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
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