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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ECM1
Indel
(nonsense)
Lipid proteinosis
Gnot provided
ECM1
(G170fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
ECM1
(R171fs +1 more)
Deletion
(frameshift variant)
ECM1-related condition
GPathogenic
ECM1
(C220G +1 more)
Single nucleotide variant
(missense variant)
Lipid proteinosis
Gnot provided
ECM1
(R243* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lipid proteinosis
Gnot provided
ECM1
(E248* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lipid proteinosis
Gnot provided
ECM1
(Q276* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lipid proteinosis
Gnot provided
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