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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2C
(R4108*)
Single nucleotide variant
(nonsense)
Kleefstra syndrome 2
GUncertain significance
KMT2C
(R1292G)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 2
GUncertain significance