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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH14
(G1707fs)
Deletion
(frameshift variant)
DNAH14-related neurodevelopmental disorder
GUncertain significance
DNAH14
(C3712R)
Single nucleotide variant
(missense variant)
DNAH14-related neurodevelopmental disorder
GUncertain significance
CNIH3, CNIH4
+5 more
Copy number loss
not provided
GPathogenic
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