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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH2
(R2400*)
Single nucleotide variant
(nonsense)
Hajdu-Cheney syndrome
+1 more
GConflicting classifications of pathogenicity
NOTCH2
(Q2360*)
Single nucleotide variant
(nonsense)
Hajdu-Cheney syndrome
GPathogenic