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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
LOC126859827, TAB2
(R227* +1 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 2
+4 more
GPathogenic/Likely pathogenic
LOC126859827, TAB2
(A480G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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