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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD7
(V1141fs)
Microsatellite
(frameshift variant +1 more)
CHD7-related disorder
+1 more
GPathogenic
CHD7
Single nucleotide variant
(intron variant)
not provided
+4 more
GPathogenic
CHD7
(R2627* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
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