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Links from MedGen

Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBB, LOC107133510
+1 more
(A141I)
Indel
(missense variant)
Erythrocytosis, familial, 6
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Dominant beta-thalassemia
+10 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
Dominant beta-thalassemia
+9 more
GUncertain significance
HBB, LOC106099062
+1 more
(D100E)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GConflicting classifications of pathogenicity
HBB, LOC107133510
+1 more
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+10 more
GLikely benign
LOC107133510, HBB
+1 more
Single nucleotide variant
Dominant beta-thalassemia
+9 more
GBenign/Likely benign
LOC110006319, HBB
+1 more
(Y146N)
Single nucleotide variant
(missense variant)
Hemoglobinopathy
GPathogenic
LOC106099062, LOC107133510
+1 more
(G57S)
Single nucleotide variant
(missense variant)
not specified
+10 more
GUncertain significance
HBB, LOC106099062
+1 more
Single nucleotide variant
Heinz body anemia
+10 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Heinz body anemia
+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
HBB, LOC106099062
+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 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
HBB, LOC107133510
+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
LOC106099062, LOC107133510
+1 more
(E7K +1 more)
Single nucleotide variant
(missense variant)
HEMOGLOBIN ARLINGTON PARK
Gother
HBB, LOC106099062
+1 more
(R41S)
Single nucleotide variant
(missense variant)
Beta-thalassemia HBB/LCRB
+9 more
GUncertain significance
LOC107133510, HBB
+1 more
Single nucleotide variant
beta Thalassemia
+11 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
not specified
+14 more
GBenign
HBB, LOC106099062
+1 more
Single nucleotide variant
(splice donor variant)
Erythrocytosis, familial, 6
+10 more
GPathogenic
HBB, LOC106099062
+1 more
(S10fs)
Duplication
(frameshift variant)
Erythrocytosis, familial, 6
+11 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
(V68fs)
Deletion
(frameshift variant)
Erythrocytosis, familial, 6
+10 more
GPathogenic
LOC106099062, HBB
+1 more
Single nucleotide variant
Erythrocytosis, familial, 6
+12 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(splice acceptor variant)
Erythrocytosis, familial, 6
+10 more
GPathogenic
HBB, LOC106099062
+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)
Beta-thalassemia HBB/LCRB
+10 more
GUncertain significance
HBB, LOC106099062
+1 more
(P37H)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
(T88P)
Single nucleotide variant
(missense variant)
Beta-thalassemia HBB/LCRB
+10 more
GBenign/Likely benign
HBB, LOC106099062
+1 more
Single nucleotide variant
Erythrocytosis, familial, 6
+10 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Erythrocytosis, familial, 6
+11 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Erythrocytosis, familial, 6
+11 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Erythrocytosis, familial, 6
+11 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+10 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
beta Thalassemia
+10 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(intron variant)
Beta-thalassemia HBB/LCRB
+12 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
Beta thalassemia intermedia
+11 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 6
+12 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
Single nucleotide variant
(intron variant)
Beta-thalassemia HBB/LCRB
+13 more
GPathogenic
HBB, LOC106099062
+2 more
Single nucleotide variant
(splice donor variant)
Erythrocytosis, familial, 6
+11 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(splice donor variant)
beta Thalassemia
+12 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(splice donor variant)
Erythrocytosis, familial, 6
+11 more
GPathogenic
HBB, LOC106099062
+1 more
(W38fs)
Deletion
(frameshift variant)
not provided
+11 more
GPathogenic
HBB, LOC106099062
+1 more
(P6fs)
Deletion
(frameshift variant)
not provided
+11 more
GPathogenic
HBB, LOC106099062
+1 more
(E7fs)
Deletion
(frameshift variant)
beta Thalassemia
+10 more
GPathogenic
HBB, LOC106099062
+1 more
(F42fs)
Deletion
(frameshift variant)
Erythrocytosis, familial, 6
+13 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
(F46fs)
Deletion
(frameshift variant)
Erythrocytosis, familial, 6
+10 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
(K18fs)
Deletion
(frameshift variant)
Erythrocytosis, familial, 6
+13 more
GPathogenic
HBB, LOC106099062
+1 more
(K62*)
Single nucleotide variant
(nonsense)
not provided
+10 more
GPathogenic
HBB, LOC106099062
+1 more
(Q40*)
Single nucleotide variant
(nonsense)
Erythrocytosis, familial, 6
+12 more
GPathogenic
HBB, LOC106099062
+1 more
(K18*)
Single nucleotide variant
(nonsense)
Erythrocytosis, familial, 6
+10 more
GPathogenic
HBB, LOC106099062
+1 more
(D100Y)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
GPathogenic
HBB, LOC107133510
+1 more
(H147P)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(D100H)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(H98L)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(S90R)
Single nucleotide variant
(missense variant)
HEMOGLOBIN VANDERBILT
+1 more
GPathogenic; other
HBB, LOC107133510
+1 more
(P125Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBB, LOC107133510
+1 more
(H144P)
Single nucleotide variant
(missense variant)
not specified
GPathogenic
HBB, LOC107133510
+1 more
(V110M)
Single nucleotide variant
(missense variant)
beta Thalassemia
+2 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
(L15P)
Single nucleotide variant
(missense variant)
Beta-thalassemia HBB/LCRB
+10 more
GUncertain significance
HBB, LOC107133510
+1 more
(A141T)
Single nucleotide variant
(missense variant)
HEMOGLOBIN SAINT JACQUES
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(E7V)
Single nucleotide variant
(missense variant)
Sickle cell disease and related diseases
+15 more
GPathogenic
HBB, LOC107133510
+1 more
(Y146C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HBB, LOC106099062
+1 more
(K83T)
Single nucleotide variant
(missense variant)
HEMOGLOBIN RAHERE
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(K83N)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
HBB, LOC106099062
+2 more
(E102D)
Single nucleotide variant
(missense variant)
HEMOGLOBIN POTOMAC
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(D100A)
Single nucleotide variant
(missense variant)
HEMOGLOBIN RADCLIFFE
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(V35F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HBB, LOC106099062
+1 more
(V24F)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(V21M)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+9 more
GPathogenic
HBB, LOC107133510
+1 more
(A143D)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
HBB, LOC107133510
+1 more
(E122K)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+11 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
(Y146*)
Single nucleotide variant
(nonsense)
HEMOGLOBIN MCKEES ROCKS
+1 more
GPathogenic; other
LOC106099062, LOC107133510
+1 more
(H98Q)
Single nucleotide variant
(missense variant)
HEMOGLOBIN MALMO
+1 more
GPathogenic; other
HBB, LOC107133510
+1 more
(H144Q)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
GPathogenic
HBB, LOC106099062
+1 more
(D100N)
Single nucleotide variant
(missense variant)
HEMOGLOBIN KEMPSEY
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(D100G)
Single nucleotide variant
(missense variant)
HEMOGLOBIN HOTEL-DIEU
+1 more
GPathogenic; other
HBB, LOC107133510
+1 more
(H147D)
Single nucleotide variant
(missense variant)
HEMOGLOBIN HIROSHIMA
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(K83M)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HBB, LOC106099062
+2 more
(F104L)
Single nucleotide variant
(missense variant)
HEMOGLOBIN HEATHROW
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(V12I)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+13 more
GUncertain significance
HBB, LOC106099062
+1 more
(E27K)
Single nucleotide variant
(missense variant)
not specified
+15 more
GPathogenic
HBB, LOC106099062
+1 more
(E23V)
Single nucleotide variant
(missense variant)
Beta-thalassemia HBB/LCRB
+9 more
GUncertain significance
HBB, LOC106099062
+1 more
(S90N)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+2 more
GPathogenic/Likely pathogenic; other
HBB, LOC107133510
+1 more
(H147L)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(G70S)
Single nucleotide variant
(missense variant)
Hb SS disease
+11 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
(D100V)
Single nucleotide variant
(missense variant)
HEMOGLOBIN CHEMILLY
+1 more
GPathogenic; other
LOC106099062, LOC107133510
+1 more
(E7K)
Single nucleotide variant
(missense variant)
beta Thalassemia
+15 more
GPathogenic
LOC110006319, LOC107133510
+2 more
(E102K)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
HBB, LOC106099062
+1 more
(L69H)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+2 more
GPathogenic; other
HBB, LOC106099062
+2 more
(P101L)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
HBB, LOC107133510
+1 more
(Y146H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
LOC106099062, LOC107133510
+1 more
(D95H)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
LOC110006319, HBB
+1 more
(K145N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
LOC106099062, LOC107133510
+2 more
(E102G)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
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