U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GARS1
(D126N +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
GARS1
(I334N +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2D
+1 more
GPathogenic/Likely pathogenic
GARS1
(S635L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GARS1
(E720A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination