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Links from MedGen

Items: 1 to 100 of 403

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBB
Deletion
beta Thalassemia
GPathogenic
PJVK
(R127* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
beta Thalassemia
GLikely pathogenic
HBB, LOC106099062
+1 more
(S90fs)
Deletion
(frameshift variant)
beta Thalassemia
GLikely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
beta Thalassemia
Gnot provided
HBB, LOC106099062
+1 more
(N81Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LOC107133510, HBB
+1 more
(H78fs)
Deletion
(frameshift variant)
Beta-thalassemia HBB/LCRB
+1 more
GLikely pathogenic
HBB, LOC106099062
+2 more
Deletion
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(A14T)
Single nucleotide variant
(missense variant)
beta Thalassemia
GBenign
HBB, LOC107133510
+1 more
(P125T)
Single nucleotide variant
(missense variant)
beta Thalassemia
GBenign
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
beta Thalassemia
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HBB
Deletion
beta Thalassemia
GPathogenic
HBB
Deletion
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(M56T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC107133510, HBB
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
Hb SS disease
+5 more
GConflicting classifications of pathogenicity
HBB, LOC110006319
+1 more
Single nucleotide variant
(3 prime UTR variant)
Hb SS disease
+3 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Hb SS disease
+3 more
GUncertain significance
HBB, LOC106099062
+1 more
(E27*)
Duplication
(nonsense)
not provided
GPathogenic
HBB, LOC106099062
+1 more
(G25fs)
Indel
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(G25fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HBB, LOC106099062
+1 more
(E23fs)
Deletion
(frameshift variant)
beta Thalassemia
+1 more
GPathogenic
HBB, LOC106099062
+1 more
(E23*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HBB, LOC106099062
+1 more
(K18fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(G17fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+2 more
Single nucleotide variant
(intron variant)
not provided
GPathogenic
HBB, LOC106099062
+2 more
Single nucleotide variant
(splice donor variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC110006319, HBB
+2 more
Deletion
(splice donor variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(A11fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
HBB, LOC106099062
+2 more
Indel
(inframe_indel)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(S10fs)
Insertion
(frameshift variant)
beta Thalassemia
+1 more
GPathogenic
HBB, LOC106099062
+1 more
(M56fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(M56fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HBB, LOC106099062
+1 more
(M56fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(M56fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(V55fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(D53fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(P52fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(T51fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(L49fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LOC106099062, LOC107133510
+1 more
(D48fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(G47fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
LOC107133510, HBB
+1 more
(F46fs)
Deletion
(frameshift variant)
Dominant beta-thalassemia
+1 more
GPathogenic
HBB, HBB-LCR
Deletion
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
GBenign
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
GBenign
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
GUncertain significance
HBB, LOC106099062
+1 more
Single nucleotide variant
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
(P6fs +1 more)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(L32fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
Duplication
(splice acceptor variant)
beta Thalassemia
+1 more
GPathogenic
HBB, LOC106099062
+1 more
(R31S)
Single nucleotide variant
(missense variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(W16fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
LOC106099062, LOC107133510
+1 more
(L15fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
(H144fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
(N140*)
Duplication
(nonsense)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(M1I)
Single nucleotide variant
(missense variant +1 more)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(M1I)
Single nucleotide variant
(missense variant +1 more)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
(K133*)
Single nucleotide variant
(nonsense)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
(A129fs +1 more)
Indel
(frameshift variant)
Dominant beta-thalassemia
+1 more
GPathogenic
LOC110006319, HBB
+1 more
(K133fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
(Q132*)
Single nucleotide variant
(nonsense)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(H93fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
Duplication
(inframe_insertion)
beta Thalassemia
GPathogenic
LOC106099062, LOC107133510
+1 more
(S90fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(S10fs)
Insertion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(S90fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(L89fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(L89fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(A87fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(F86fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(T85fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(K9fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(L82fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(E44fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
LOC106099062, LOC107133510
+1 more
(E44*)
Duplication
(nonsense)
Hemoglobinopathy
GPathogenic
HBB, LOC106099062
+1 more
(F43fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(F43fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(R41fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
(T5fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
LOC106099062, LOC107133510
+1 more
(Q40fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
Deletion
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
+1 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
beta Thalassemia
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
(V127fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
(P126fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
LOC110006319, HBB
+1 more
(F119fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
(H117fs)
Insertion
(frameshift variant)
beta Thalassemia
GPathogenic
LOC107133510, HBB
+1 more
(V12fs)
Deletion
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
(C113*)
Single nucleotide variant
(nonsense)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
(A116fs)
Duplication
(frameshift variant)
beta Thalassemia
GPathogenic
HBB, LOC107133510
+1 more
(L107V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBB, LOC107133510
+1 more
Duplication
(intron variant)
beta Thalassemia
GPathogenic
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