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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ECM1
(N279* +2 more)
Insertion
(nonsense)
Lipid proteinosis
GPathogenic
ECM1
(R305fs +2 more)
Deletion
(frameshift variant)
Lipid proteinosis
GPathogenic