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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBA1, LOC106804613
(L110fs)
Deletion
(frameshift variant)
alpha Thalassemia
+5 more
GPathogenic/Likely pathogenic
HBA2, LOC106804612
(P120A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBA2, LOC106804612
Single nucleotide variant
alpha Thalassemia
+4 more
GUncertain significance
HBA1, LOC106804613
(P120S)
Single nucleotide variant
(missense variant)
alpha Thalassemia
+5 more
GPathogenic
HBA1, LOC106804613
Single nucleotide variant
(splice acceptor variant)
HBA1-related disorder
+6 more
GPathogenic/Likely pathogenic
HBA1, LOC106804613
(R32fs)
Microsatellite
(frameshift variant)
not provided
+5 more
GPathogenic
LOC106804613, HBA1
(N79fs)
Deletion
(frameshift variant)
not provided
+6 more
GPathogenic/Likely pathogenic
HBA1, HBA2
+1 more
(H123Q)
Single nucleotide variant
(missense variant)
Hemoglobin H disease
+4 more
GUncertain significance
HBA2, LOC106804612
Single nucleotide variant
(3 prime UTR variant)
Hemoglobin H disease
+5 more
GConflicting classifications of pathogenicity
HBA2, LOC106804612
Deletion
(splice donor variant)
alpha Thalassemia
+4 more
GPathogenic
HBA1, LOC106804613
(A111D)
Single nucleotide variant
(missense variant)
Hemoglobin H disease
+5 more
GLikely pathogenic
HBA2, LOC106804612
Single nucleotide variant
(splice acceptor variant)
Hemoglobin H disease
+4 more
GPathogenic
HBA2, LOC106804612
Single nucleotide variant
(splice acceptor variant)
Heinz body anemia
+3 more
GLikely pathogenic
HBA2, LOC106804612
Single nucleotide variant
(3 prime UTR variant)
Hemoglobin H disease
+5 more
GPathogenic/Likely pathogenic
HBA2, LOC106804612
(L126P)
Single nucleotide variant
(missense variant)
Hemoglobin H disease
+4 more
GPathogenic
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