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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1
(Q530* +4 more)
Single nucleotide variant
(nonsense)
not provided
+9 more
GPathogenic
CDKN1C
(Y91H +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance