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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FRMD5
(S115R +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with eye movement abnormalities and ataxia
+1 more
GConflicting classifications of pathogenicity
FRMD5
(L143V +2 more)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder with eye movement abnormalities and ataxia
GUncertain significance