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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130062794, TXNL4A
Deletion
(intron variant +1 more)
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
+1 more
GConflicting classifications of pathogenicity
LOC130062794, TXNL4A
Deletion
(intron variant)
TXNL4A-related condition
+1 more
GPathogenic/Likely pathogenic