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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GARS1
(P4L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
+6 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(synonymous variant)
Distal spinal muscular atrophy
+8 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
GARS1
(S265F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GARS1
(I213fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
GARS1
(T268I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+2 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(synonymous variant)
Distal spinal muscular atrophy
+7 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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