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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSB
(N458S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ARSB
(W450C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ARSB
(T442M)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+1 more
GConflicting classifications of pathogenicity
ARSB
(C405Y)
Single nucleotide variant
(missense variant)
Metachromatic leukodystrophy
+2 more
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ARSB
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
+1 more
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ARSB
(P387S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARSB
(S384N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ARSB
(V376M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
ARSB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARSB
(V358M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ARSB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ARSB
(G324V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ARSB
(R315Q)
Single nucleotide variant
(missense variant)
ARSB-related condition
+2 more
GPathogenic/Likely pathogenic
ARSB
(W312R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARSB
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ARSB
(Y210C)
Single nucleotide variant
(missense variant)
ARSB-related condition
+3 more
GPathogenic
ARSB
(R152W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ARSB, LOC129994126
(R95Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(F62Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ARSB, LOC129994126
(G40fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ARSB, LOC129994126
(A33V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
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