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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS1
(K967M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+5 more
GBenign/Likely benign
AARS1
(G931S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+2 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
AARS1
(K820R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GLikely benign
AARS1
(R729W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+4 more
GConflicting classifications of pathogenicity
AARS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
AARS1
(T562I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+3 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2N
+7 more
GBenign/Likely benign
AARS1
Single nucleotide variant
(synonymous variant)
AARS1-related disorder
+5 more
GBenign/Likely benign
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