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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SQSTM1
(P392L +1 more)
Single nucleotide variant
(missense variant)
Paget disease of bone 3
+6 more
GConflicting classifications of pathogenicity
SQSTM1
(G327S +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic