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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SERPINA1
(P393L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SERPINA1
(E387K)
Single nucleotide variant
(missense variant)
SERPINA1-related condition
+2 more
GConflicting classifications of pathogenicity
SERPINA1
(M382R)
Single nucleotide variant
(missense variant)
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
+1 more
GPathogenic
SERPINA1
(E366K)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
+7 more
GPathogenic; risk factor
SERPINA1
(S343fs)
Microsatellite
(frameshift variant)
Alpha-1-antitrypsin deficiency
+2 more
GPathogenic; other
SERPINA1
(E288V)
Single nucleotide variant
(missense variant)
SERPINA1-related condition
+4 more
GPathogenic/Pathogenic, low penetrance; other
SERPINA1
(R247C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SERPINA1
(I116N)
Single nucleotide variant
(missense variant)
PI Q0(LUDWIGSHAFEN)
+2 more
GPathogenic; other
SERPINA1
(G91E)
Single nucleotide variant
(missense variant)
PI M(MINERAL SPRINGS)
+1 more
GPathogenic; other
SERPINA1
(S77F)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
GPathogenic
SERPINA1
(F76del)
Microsatellite
(inframe_deletion)
SERPINA1-related condition
+2 more
GPathogenic
SERPINA1
(L65P)
Single nucleotide variant
(missense variant)
Reduced circulating alpha-1-antitrypsin concentration
+2 more
GPathogenic/Likely pathogenic
SERPINA1
Variation
Alpha-1-antitrypsin deficiency
GPathogenic
SERPINA1
Deletion
PI NULL(PROCIDA)
+1 more
GPathogenic; other
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