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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SFTPC
(I50M)
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
(T105M +2 more)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 2
GUncertain significance
SFTPC
(L181V +2 more)
Single nucleotide variant
(missense variant)
Surfactant metabolism dysfunction, pulmonary, 2
+3 more
GConflicting classifications of pathogenicity
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