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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOK7, LOC126806951
(G185R)
Single nucleotide variant
(missense variant +2 more)
Fetal akinesia deformation sequence 1
+2 more
GConflicting classifications of pathogenicity
DOK7
(A234fs +2 more)
Duplication
(3 prime UTR variant +1 more)
not provided
+8 more
GPathogenic