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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH2
(C335Y)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(R29*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity