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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126859827, TAB2
(R420* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
LOC126859827, TAB2
(E469* +1 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 2
GLikely pathogenic