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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EVC2
(V806M +1 more)
Single nucleotide variant
(missense variant)
Ellis-van Creveld syndrome
+2 more
GUncertain significance
EVC2
(E628* +1 more)
Single nucleotide variant
(nonsense)
Curry-Hall syndrome
GLikely pathogenic