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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DONSON
Single nucleotide variant
(intron variant)
Microcephaly-micromelia syndrome
+2 more
GPathogenic
DONSON
(I307V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DONSON
(F214L)
Single nucleotide variant
(missense variant)
Microcephaly, short stature, and limb abnormalities
GUncertain significance
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