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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPNMB
(K107fs)
Deletion
(frameshift variant)
Amyloidosis, primary localized cutaneous, 3
+1 more
GPathogenic/Likely pathogenic
GPNMB
(R189*)
Single nucleotide variant
(nonsense)
Amyloidosis, primary localized cutaneous, 3
GPathogenic