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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA3
(R1081W)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
+1 more
GConflicting classifications of pathogenicity
ABCA3
(E292V)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+8 more
GConflicting classifications of pathogenicity