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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PITX1
(Y171*)
Single nucleotide variant
(nonsense)
Clubfoot
+1 more
GConflicting classifications of pathogenicity
PITX1, PITX1-AS1
(A30fs)
Deletion
(frameshift variant)
Clubfoot
GLikely pathogenic