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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN1
(P480fs)
Deletion
(frameshift variant +1 more)
not provided
+4 more
GPathogenic
CLCN1
(R894*)
Single nucleotide variant
(nonsense +1 more)
not provided
+8 more
GPathogenic/Likely pathogenic