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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GEMIN5
(V808F +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
GUncertain significance
GEMIN5
(Y659F +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
GUncertain significance
GEMIN5
(L284F +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
+1 more
GUncertain significance
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