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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSB
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB
(R327*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic
ARSB
(G324V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ARSB
(R315Q)
Single nucleotide variant
(missense variant)
ARSB-related disorder
+2 more
GPathogenic/Likely pathogenic
ARSB
(N310D)
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
(R159C)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB
(R106H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARSB, LOC129994126
(Q88*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic
ARSB, LOC129994126
(D83Y)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+1 more
GConflicting classifications of pathogenicity
ARSB, LOC129994126
(L72R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
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
(A33V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ARSB, LOC129994126
(L32del)
Microsatellite
(inframe_deletion)
Mucopolysaccharidosis type 6
+1 more
GUncertain significance
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