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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Microcephaly, short stature, and limb abnormalities
GLikely pathogenic
DONSON
(S28R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DONSON
(K489T)
Single nucleotide variant
(missense variant)
Intellectual disability
+7 more
GConflicting classifications of pathogenicity
DONSON
(Q428*)
Single nucleotide variant
(nonsense)
Microcephaly, short stature, and limb abnormalities
+2 more
GPathogenic/Likely pathogenic
DONSON
(K489T +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly, short stature, and limb abnormalities
GPathogenic
DONSON
Single nucleotide variant
(intron variant)
Microcephaly-micromelia syndrome
GConflicting classifications of pathogenicity
DONSON
Single nucleotide variant
(intron variant)
DONSON-related disorder
+3 more
GConflicting classifications of pathogenicity
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