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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EVC2
(W1047* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
EVC2
(S836fs +1 more)
Deletion
(frameshift variant)
Ellis-van Creveld syndrome
+1 more
GPathogenic