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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX2-1, SFTA3
(M197fs +1 more)
Duplication
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NKX2-1, SFTA3
(G85fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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