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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2C
(V4703G)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GLikely benign
KMT2C
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder
GUncertain significance
KMT2C
(R2609*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
KMT2C
Deletion
(intron variant)
not provided
GPathogenic
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