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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA3
(A501E)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
+3 more
GConflicting classifications of pathogenicity
ABCA3
(R288K)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+3 more
GConflicting classifications of pathogenicity
ABCA3
(R280H)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
+4 more
GConflicting classifications of pathogenicity
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