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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NALCN
(R1384* +2 more)
Single nucleotide variant
(nonsense)
Congenital contractures of the limbs and face, hypotonia, and developmental delay
+1 more
GPathogenic
NALCN
(D571G +1 more)
Single nucleotide variant
(missense variant)
Congenital contractures of the limbs and face, hypotonia, and developmental delay
+1 more
GPathogenic/Likely pathogenic