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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA3
(G205R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
ABCA3
(G1608C)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
ABCA3
(F1441S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
ABCA3
(A823P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
ABCA3
(G668D)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
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