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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ECM1
(R53*)
Single nucleotide variant
(nonsense)
Lipid proteinosis
+1 more
GPathogenic
ECM1
(R443* +2 more)
Single nucleotide variant
(nonsense)
Lipid proteinosis
GPathogenic/Likely pathogenic