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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GARS1
(A26fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GARS1
(D2N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GARS1
(E61Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GARS1
(H167R +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
GARS1
(S241N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GARS1
(Y454* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
GARS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GARS1
(Y518C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GARS1
(R639Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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