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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP2A1, CD19
+9 more
Copy number gain
Familial atrioventricular septal defect
+2 more
GPathogenic
FREM2
(R2243*)
Single nucleotide variant
(nonsense)
not provided
+9 more
GPathogenic/Likely pathogenic