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Links from Gene

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX2-6
(R207Q)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
GUncertain significance
NKX2-6
(Q190*)
Single nucleotide variant
(nonsense)
Conotruncal heart malformations
GLikely pathogenic