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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SFTPB
Single nucleotide variant
(intron variant)
Surfactant metabolism dysfunction, pulmonary, 1
+1 more
GConflicting classifications of pathogenicity
SFTPB
(P121fs)
Indel
(frameshift variant)
Surfactant metabolism dysfunction, pulmonary, 1
+2 more
GPathogenic