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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNMT3A
(Y685N +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GLikely pathogenic
DNMT3A
(R513C +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
+2 more
GConflicting classifications of pathogenicity
DNMT3A
(G109R +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
+1 more
GConflicting classifications of pathogenicity
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