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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSA
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign; other
ARSA
(A384fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ARSA
(P428L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ARSA
(T411I +1 more)
Single nucleotide variant
(missense variant)
Metachromatic leukodystrophy
GPathogenic/Likely pathogenic
ARSA
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
ARSA
(T393S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ARSA
(N352S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign; other
ARSA
(D257H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ARSA
(G247R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ARSA
(A214V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ARSA
(I181S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ARSA
Single nucleotide variant
(splice donor variant)
ARSA-related condition
+5 more
GPathogenic
ARSA
(G101D +1 more)
Single nucleotide variant
(missense variant)
Metachromatic leukodystrophy
+1 more
GPathogenic/Likely pathogenic
ARSA
(S98F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ARSA
(R86Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
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