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Items: 1 to 100 of 1819

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
LOC111718490, LOC112067719
+388 more
Copy number gain
See cases
GPathogenic
CHID1, CHRNA10
+917 more
Copy number gain
See cases
GPathogenic
BGLT3, A-GAMMA3'E
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
LOC107133510, LOC110006319
+1 more
Deletion
beta Thalassemia
GPathogenic
HBB, LOC106099062
+2 more
Deletion
beta Thalassemia
GPathogenic
HBB, LOC106099062
+2 more
Indel
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
not specified
GBenign
HBB, LOC107133510
+1 more
Indel
Beta-thalassemia major
+1 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
not specified
+1 more
GBenign
LOC107133510, LOC110006319
+1 more
Single nucleotide variant
not provided
GBenign
HBB, LOC107133510
+1 more
Single nucleotide variant
not provided
GLikely benign
HBB, LOC107133510
+1 more
Deletion
not provided
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
not specified
+1 more
GBenign
HBB, LOC107133510
+1 more
Single nucleotide variant
not specified
+1 more
GLikely benign
HBB, LOC107133510
+1 more
Deletion
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
not specified
+1 more
GBenign
HBB, LOC107133510
+1 more
Single nucleotide variant
beta Thalassemia
GLikely benign
HBB, LOC107133510
+1 more
Single nucleotide variant
not provided
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
not provided
GLikely benign
HBB, LOC107133510
+1 more
Single nucleotide variant
not specified
+1 more
GBenign/Likely benign
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Hereditary persistence of fetal hemoglobin
+10 more
GUncertain significance
HBB, LOC107133510
+1 more
Deletion
(stop lost +1 more)
not provided
GPathogenic
HBB, LOC107133510
+1 more
Deletion
(splice acceptor variant)
not provided
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
HBB, LOC107133510
+1 more
Duplication
(3 prime UTR variant)
not specified
+1 more
GUncertain significance
HBB, LOC107133510
+1 more
Deletion
(3 prime UTR variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
Deletion
(3 prime UTR variant)
Beta-plus-thalassemia
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
HBB, LOC107133510
+1 more
Deletion
(3 prime UTR variant)
Beta-plus-thalassemia
+1 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
beta Thalassemia
+1 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Beta-plus-thalassemia
GPathogenic
LOC110006319, LOC107133510
+1 more
Deletion
(3 prime UTR variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC110006319, HBB
+1 more
Single nucleotide variant
(3 prime UTR variant)
Hemoglobinopathy
+1 more
GPathogenic
HBB, LOC107133510
+1 more
Insertion
(3 prime UTR variant)
Beta-plus-thalassemia
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Beta-plus-thalassemia
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
Deletion
(3 prime UTR variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
LOC110006319, HBB
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
LOC110006319, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
HBB-related disorder
+2 more
GConflicting classifications of pathogenicity
LOC110006319, HBB
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
LOC107133510, HBB
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
+10 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
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Hemoglobin E
+3 more
GUncertain significance
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)
not specified
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GUncertain significance
LOC107133510, LOC110006319
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
LOC110006319, HBB
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
LOC110006319, HBB
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
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)
not provided
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
LOC110006319, HBB
+1 more
Deletion
(stop lost +1 more)
not provided
GPathogenic
LOC110006319, HBB
+1 more
Duplication
(frameshift variant +1 more)
Beta-thalassemia HBB/LCRB
+2 more
GConflicting classifications of pathogenicity
HBB, LOC107133510
+1 more
(H147Q)
Single nucleotide variant
(missense variant)
HEMOGLOBIN KODAIRA II
Gother
HBB, LOC107133510
+1 more
(H147Q)
Single nucleotide variant
(missense variant)
HEMOGLOBIN KODAIRA
Gother
HBB, LOC107133510
+1 more
(H147P)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
HBB, LOC107133510
+1 more
(H147L)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 6
+1 more
GPathogenic; other
HBB, LOC107133510
+1 more
(H147R)
Single nucleotide variant
(missense variant)
HEMOGLOBIN COCHIN-PORT ROYAL
Gother
HBB, LOC107133510
+1 more
(H147Y)
Single nucleotide variant
(missense variant)
HEMOGLOBIN BOLOGNA-ST. ORSOLA
Gother
HBB, LOC107133510
+1 more
(H147D)
Single nucleotide variant
(missense variant)
HEMOGLOBIN HIROSHIMA
+1 more
GPathogenic; other
HBB, LOC107133510
+1 more
(Y146*)
Single nucleotide variant
(nonsense)
HEMOGLOBIN MCKEES ROCKS
+1 more
GPathogenic; other
HBB, LOC107133510
+1 more
(Y146C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HBB, LOC107133510
+1 more
(Y146fs)
Insertion
(frameshift variant)
HEMOGLOBIN CRANSTON
Gother
LOC107133510, HBB
+1 more
(Y146N)
Single nucleotide variant
(missense variant)
Hemoglobinopathy
GPathogenic
HBB, LOC107133510
+1 more
(Y146H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HBB, LOC107133510
+1 more
(K145N)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
HBB, LOC107133510
+1 more
(K145N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HBB, LOC107133510
+1 more
(K145fs)
Deletion
(frameshift variant)
HEMOGLOBIN TRENTO
Gother
HBB, LOC107133510
+1 more
(K145M)
Single nucleotide variant
(missense variant)
HEMOGLOBIN BARBIZON
Gother
HBB, LOC107133510
+1 more
(K145*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
HBB, LOC107133510
+1 more
(K145* +1 more)
Single nucleotide variant
(nonsense +1 more)
HEMOGLOBIN KOCHI
Gother
HBB, LOC107133510
+1 more
Deletion
(inframe_indel)
HEMOGLOBIN BIRMINGHAM
Gother
HBB, LOC107133510
+1 more
(K145E)
Single nucleotide variant
(missense variant)
HEMOGLOBIN MITO
Gother
HBB, LOC107133510
+1 more
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
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