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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENG, LOC102723566
(P528fs +1 more)
Deletion
(frameshift variant)
Telangiectasia of the skin
+4 more
GPathogenic
SEC16A, SEC61B
+553 more
Copy number gain
Hypotonia
+2 more
GLikely pathogenic