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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC107133510, HBB
+1 more
(G70S)
Single nucleotide variant
(missense variant)
Methemoglobinemia, beta-globin type
+11 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
(Q40*)
Single nucleotide variant
(nonsense)
HBB-related condition
+12 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(intron variant)
not provided
+13 more
GPathogenic
LOC106099062, LOC107133510
+1 more
Single nucleotide variant
(splice donor variant)
not provided
+12 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(splice donor variant)
beta Thalassemia
+11 more
GPathogenic
HBB, LOC106099062
+1 more
(K18fs)
Deletion
(frameshift variant)
HBB-related condition
+13 more
GPathogenic
LOC106099062, LOC107133510
+1 more
(E7V)
Single nucleotide variant
(missense variant)
HBB-related condition
+16 more
GPathogenic
HBB, LOC106099062
+1 more
(E7K)
Single nucleotide variant
(missense variant)
HBB-related condition
+15 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
Hereditary persistence of fetal hemoglobin
+14 more
GBenign
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