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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC110006319, HBB
+1 more
Indel
Inborn genetic diseases
+1 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
Hb SS disease
+4 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(intron variant)
Beta-thalassemia HBB/LCRB
+12 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(intron variant)
Beta-thalassemia major
+1 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(intron variant)
Beta-thalassemia HBB/LCRB
+13 more
GPathogenic
HBB, LOC106099062
+1 more
(R31T)
Single nucleotide variant
(missense variant)
beta Thalassemia
+4 more
GPathogenic
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