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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELP2
(H271R +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ELP2
(N357fs +8 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic