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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEC23B
(R324* +1 more)
Single nucleotide variant
(nonsense)
Cowden syndrome 7
+2 more
GPathogenic
SEC23B
(T728N +1 more)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type II
GLikely pathogenic