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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA3
(G1205R)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
+2 more
GConflicting classifications of pathogenicity
ABCA3
(L1105F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA3
(M847V)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
+2 more
GUncertain significance
ABCA3
(D446N)
Single nucleotide variant
(missense variant)
Respiratory failure
+1 more
GUncertain significance
ABCA3
(E292V)
Single nucleotide variant
(missense variant)
Interstitial lung disease 2
+8 more
GConflicting classifications of pathogenicity
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