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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OFD1
(Y98fs +1 more)
Duplication
(frameshift variant)
not provided
+4 more
GPathogenic
OFD1
(R204* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity