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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKN1C
(E274K +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
GUncertain significance
CDKN1C
(Q241* +1 more)
Single nucleotide variant
(nonsense +1 more)
Beckwith-Wiedemann syndrome
GPathogenic