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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GEMIN5
(Y1498* +1 more)
Duplication
(nonsense)
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
GUncertain significance
GEMIN5
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
GUncertain significance
GEMIN5
(V1057fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GEMIN5
Indel
(missense variant)
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
GUncertain significance
GEMIN5
(A430V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
GUncertain significance
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