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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ECM1
(P78fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ECM1
(Q340fs +1 more)
Deletion
(intron variant +1 more)
Lipid proteinosis
GLikely pathogenic