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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA6
(R456C)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
+3 more
GPathogenic
GATA6
(R456H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic