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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED13L
(W1347*)
Single nucleotide variant
(nonsense)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GPathogenic
MED13L
(H1305Y)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity