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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SERPINA1
(E366K)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
+7 more
GPathogenic; risk factor
SERPINA1
(R247C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity