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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX5
(R279* +1 more)
Single nucleotide variant
(nonsense)
Aortic valve disease 2
+3 more
GPathogenic
TBX5
(Y37* +1 more)
Single nucleotide variant
(nonsense)
Holt-Oram syndrome
GLikely pathogenic