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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD7
(Q151*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CHD7
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GPathogenic
CHD7
(A2487S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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