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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ECM1
(G170fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
ECM1
(R254* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
ECM1
(A359fs +2 more)
Deletion
(frameshift variant)
Lipid proteinosis
GPathogenic
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