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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SFTPC
(K63E)
Single nucleotide variant
(missense variant +1 more)
Surfactant metabolism dysfunction, pulmonary, 2
GUncertain significance
SFTPC
(I73T +1 more)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+2 more
GPathogenic
SFTPC
(D105V +1 more)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 2
GLikely pathogenic
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