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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA3
(R1474W)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
ABCA3
(A1281T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABCA3
(D952N)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+1 more
GUncertain significance
ABCA3
(R892H)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA3
(P770L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA3
(P766S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ABCA3
(V473I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ABCA3
(E292V)
Single nucleotide variant
(missense variant)
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
+8 more
GConflicting classifications of pathogenicity
ABCA3
(A230V)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
+1 more
GUncertain significance
ABCA3
(V129M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
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