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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RARS1
(A91V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RARS1
(R223H)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 9
+1 more
GUncertain significance
RARS1
(S456L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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