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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX2-1, SFTA3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
NKX2-1, SFTA3
(A276fs +1 more)
Deletion
(frameshift variant)
NKX2-1-related disorder
GPathogenic
NKX2-1, SFTA3
Single nucleotide variant
(synonymous variant)
NKX2-1-related disorder
+1 more
GLikely benign
NKX2-1, SFTA3
Microsatellite
(inframe_insertion)
NKX2-1-related disorder
+2 more
GConflicting classifications of pathogenicity
NKX2-1, SFTA3
Microsatellite
(inframe_deletion)
not provided
+1 more
GLikely benign
NKX2-1, SFTA3
Single nucleotide variant
(synonymous variant)
NKX2-1-related disorder
+2 more
GLikely benign
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