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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SERPINA1
(P393S)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
+1 more
GConflicting classifications of pathogenicity
SERPINA1
(P386A)
Indel
(missense variant)
not provided
GUncertain significance
SERPINA1
(E366K)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic; risk factor
SERPINA1
(V326I)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
+1 more
GConflicting classifications of pathogenicity
SERPINA1
(E288V)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
+3 more
GPathogenic/Pathogenic, low penetrance; other
SERPINA1
(R247C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SERPINA1
(E228K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SERPINA1
(K198E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SERPINA1
(G172W)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
+1 more
GConflicting classifications of pathogenicity
SERPINA1
(A82T)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
+1 more
GConflicting classifications of pathogenicity
SERPINA1
(R63G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SERPINA1
(K34Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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