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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD7
(G522V)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+5 more
GBenign/Likely benign
CHD7
Deletion
(splice acceptor variant +2 more)
CHARGE syndrome
GPathogenic