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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SFTPA1
(R161H +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SFTPA1
(R242* +3 more)
Single nucleotide variant
(nonsense)
Respiratory distress associated with prematurity
+2 more
GUncertain significance