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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD7
(Q863*)
Single nucleotide variant
(nonsense +1 more)
CHARGE syndrome
GPathogenic
CHD7
(R1219*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic