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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860802, ZMYND11
(E432K +15 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 30
+6 more
GUncertain significance
GRIN2B
(M739R)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
+10 more
GLikely pathogenic
PRMT7
(E108* +2 more)
Single nucleotide variant
(nonsense +2 more)
Short stature-brachydactyly-obesity-global developmental delay syndrome
+17 more
GPathogenic/Likely pathogenic
PRMT7
(C571* +4 more)
Single nucleotide variant
(nonsense +1 more)
Acanthosis nigricans
+14 more
GPathogenic
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