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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DGAT1
(R212C)
Single nucleotide variant
(missense variant)
Congenital diarrhea 7 with exudative enteropathy
+1 more
GUncertain significance
DGAT1
(S210del)
Deletion
(inframe_deletion)
not provided
+1 more
GPathogenic/Likely pathogenic