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Links from MedGen

Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Malaria, susceptibility to
+10 more
GUncertain significance
LOC110006319, HBB
+1 more
Single nucleotide variant
(intron variant)
Malaria, susceptibility to
+9 more
GUncertain significance
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
Hemoglobin E
+5 more
GConflicting classifications of pathogenicity
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Fetal hemoglobin quantitative trait locus 1
+3 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
beta Thalassemia
+3 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
beta Thalassemia
GPathogenic
LOC107133510, LOC110006319
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+10 more
GLikely benign
LOC107133510, HBB
+1 more
Single nucleotide variant
alpha Thalassemia
+9 more
GBenign/Likely benign
HBB, LOC106099062
+1 more
(G57S)
Single nucleotide variant
(missense variant)
Methemoglobinemia, beta-globin type
+10 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
Single nucleotide variant
Dominant beta-thalassemia
+10 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
+10 more
GUncertain significance
HBB, LOC106099062
+1 more
(E7V +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN JAMAICA PLAIN
Gother
HBB, LOC106099062
+1 more
(E91K +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN S (CAMEROON)
GPathogenic
LOC107133510, HBB
+2 more
(V12I +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN O (TIBESTI)
Gother
HBB, LOC107133510
+2 more
(E122Q +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN D (AGRI)
Gother
HBB, LOC107133510
+2 more
(E122Q +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN CLEVELAND
Gother
HBB, LOC107133510
+2 more
(E122Q +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN T (CAMBODIA)
Gother
HBB, LOC106099062
+2 more
(E7V +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN S (TRAVIS)
GPathogenic
HBB, LOC106099062
+1 more
(K83N +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN S (PROVIDENCE)
GPathogenic
LOC107133510, LOC110006319
+2 more
(E122K +1 more)
Single nucleotide variant
(missense variant)
Sickle cell-Hemoglobin O Arab disease
GPathogenic
HBB, LOC106099062
+1 more
(E7V +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN S (ANTILLES)
GPathogenic
HBB, LOC106099062
+1 more
(E7V +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN ZIGUINCHOR
Gother
LOC106099062, LOC107133510
+1 more
(D74N +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN ZIGUINCHOR
Gother
HBB, LOC106099062
+1 more
(E7K +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN ARLINGTON PARK
Gother
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
(R41S)
Single nucleotide variant
(missense variant)
alpha Thalassemia
+9 more
GUncertain significance
HBB, LOC106099062
+1 more
Single nucleotide variant
not specified
+11 more
GConflicting classifications of pathogenicity
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Fetal hemoglobin quantitative trait locus 1
+3 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Hemoglobin E
+3 more
GUncertain significance
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
Hb SS disease
+14 more
GBenign
HBB, LOC106099062
+1 more
Single nucleotide variant
(splice donor variant)
Hb SS disease
+10 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
HBB, LOC107133510
+1 more
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
(S10fs)
Duplication
(frameshift variant)
Hb SS disease
+11 more
GPathogenic
HBB, LOC106099062
+1 more
(V68fs)
Deletion
(frameshift variant)
Hb SS disease
+10 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
+6 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
+2 more
GPathogenic
LOC106099062, HBB
+1 more
Single nucleotide variant
Hb SS disease
+12 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Beta-thalassemia HBB/LCRB
+3 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(splice acceptor variant)
Hb SS disease
+10 more
GPathogenic
LOC107133510, HBB
+1 more
(L69F)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+9 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
(T124N)
Single nucleotide variant
(missense variant)
Hereditary persistence of fetal hemoglobin
+10 more
GUncertain significance
HBB, LOC106099062
+1 more
(T88P)
Single nucleotide variant
(missense variant)
not specified
+10 more
GBenign/Likely benign
HBB, LOC106099062
+1 more
Single nucleotide variant
Hb SS disease
+2 more
GPathogenic/Likely pathogenic
LOC106099062, LOC107133510
+1 more
Single nucleotide variant
beta Thalassemia
+10 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
beta Thalassemia
+11 more
GPathogenic
LOC106099062, LOC107133510
+1 more
Single nucleotide variant
beta Thalassemia
+11 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
+10 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
Hb SS disease
+10 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
beta Thalassemia
+4 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
beta Thalassemia
+10 more
GPathogenic
LOC107133510, HBB
+1 more
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+12 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
not provided
+11 more
GPathogenic/Likely pathogenic
LOC106099062, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+12 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 6
+13 more
GPathogenic
HBB, LOC106099062
+2 more
Single nucleotide variant
(splice donor variant)
beta Thalassemia
+11 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(splice donor variant)
Hb SS disease
+11 more
GPathogenic/Likely pathogenic
LOC107133510, HBB
+1 more
Single nucleotide variant
(splice donor variant)
Beta-thalassemia HBB/LCRB
+11 more
GPathogenic
HBB, LOC106099062
+1 more
(M1R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
HBB, LOC106099062
+1 more
(L29fs)
Duplication
(frameshift variant)
Hb SS disease
+3 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
(W38fs)
Deletion
(frameshift variant)
Hb SS disease
+11 more
GPathogenic
HBB, LOC106099062
+1 more
(P6fs)
Deletion
(frameshift variant)
not provided
+10 more
GPathogenic
HBB, LOC106099062
+1 more
(E7fs)
Deletion
(frameshift variant)
not provided
+10 more
GPathogenic
HBB, LOC106099062
+1 more
(F42fs)
Deletion
(frameshift variant)
Erythrocytosis, familial, 6
+12 more
GPathogenic/Likely pathogenic
LOC107133510, HBB
+1 more
(F46fs)
Deletion
(frameshift variant)
Erythrocytosis, familial, 6
+10 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
(K18fs)
Deletion
(frameshift variant)
Beta-thalassemia HBB/LCRB
+13 more
GPathogenic
HBB, LOC106099062
+1 more
(K9fs)
Deletion
(frameshift variant)
Beta-thalassemia HBB/LCRB
+3 more
GPathogenic
HBB, LOC106099062
+1 more
(K62*)
Single nucleotide variant
(nonsense)
not provided
+10 more
GPathogenic
LOC106099062, LOC107133510
+1 more
(E44*)
Single nucleotide variant
(nonsense)
beta Thalassemia
+3 more
GPathogenic
HBB, LOC107133510
+1 more
(E122*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
LOC107133510, HBB
+1 more
(W16*)
Single nucleotide variant
(nonsense)
beta Thalassemia
+2 more
GPathogenic
HBB, LOC106099062
+1 more
(Q40*)
Single nucleotide variant
(nonsense)
Erythrocytosis, familial, 6
+11 more
GPathogenic
LOC107133510, HBB
+1 more
(K18*)
Single nucleotide variant
(nonsense)
Beta-thalassemia HBB/LCRB
+10 more
GPathogenic
HBB, LOC107133510
+1 more
(L111P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
HBB, LOC106099062
+1 more
(L15P)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
HBB, LOC106099062
+1 more
(E7V)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+16 more
GPathogenic
LOC106099062, LOC107133510
+1 more
(V21M)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+9 more
GPathogenic
LOC107133510, LOC110006319
+1 more
(E122K)
Single nucleotide variant
(missense variant)
Hb SS disease
+11 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
(A130V)
Single nucleotide variant
(missense variant)
Hemoglobinopathy
+2 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
(A28S)
Single nucleotide variant
(missense variant)
Hb SS disease
+3 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
(R31T)
Single nucleotide variant
(missense variant)
beta Thalassemia
+4 more
GPathogenic
HBB, LOC107133510
+1 more
(G137D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
LOC107133510, HBB
+1 more
(V12I)
Single nucleotide variant
(missense variant)
not provided
+13 more
GUncertain significance
HBB, LOC106099062
+1 more
(E27K)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+15 more
GPathogenic
HBB, LOC107133510
+1 more
(E122Q)
Single nucleotide variant
(missense variant)
beta Thalassemia
+5 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
(E23V)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
HBB, LOC106099062
+1 more
(G70S)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+11 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
(E7K)
Single nucleotide variant
(missense variant)
Beta-thalassemia HBB/LCRB
+16 more
GConflicting classifications of pathogenicity
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