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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COPA
(T555A +1 more)
Single nucleotide variant
(missense variant)
Chronic lung disease
GUncertain significance
DSP
(Y1560* +2 more)
Single nucleotide variant
(nonsense)
Chronic lung disease
GUncertain significance
FLNA
(R527C)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+9 more
GConflicting classifications of pathogenicity
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