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Links from MedGen

Items: 1 to 100 of 192

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBA1, HBA2
+3 more
Deletion
alpha Thalassemia
GPathogenic
HBA2, LOC106804612
(M1R)
Single nucleotide variant
(missense variant +1 more)
alpha Thalassemia
GLikely pathogenic
HBA1, LOC106804613
(W15*)
Single nucleotide variant
(nonsense)
alpha Thalassemia
GPathogenic
HBA1, LOC106804613
(M33I)
Single nucleotide variant
(missense variant)
alpha Thalassemia
GLikely pathogenic
HBA1, LOC106804613
(H21fs)
Deletion
(frameshift variant)
alpha Thalassemia
GLikely pathogenic
HBA1, LOC106804613
Single nucleotide variant
alpha Thalassemia
GUncertain significance
HBA2, LOC106804612
(L130P)
Single nucleotide variant
(missense variant)
alpha Thalassemia
GPathogenic
HBA1, LOC106804613
Single nucleotide variant
(5 prime UTR variant)
alpha Thalassemia
GUncertain significance
HBA2, LOC106804612
(L107R)
Single nucleotide variant
(missense variant)
alpha Thalassemia
GPathogenic
HBA1, HBA2
+2 more
Copy number loss
alpha Thalassemia
GPathogenic
HBA1, LOC106804613
(M1K)
Single nucleotide variant
(missense variant +1 more)
alpha Thalassemia
GLikely pathogenic
HBA2, LOC106804612
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
HBA2, LOC106804612
(Y25D)
Single nucleotide variant
(missense variant)
alpha Thalassemia
GPathogenic
HBA2, LOC106804612
(D48fs)
Deletion
(frameshift variant)
alpha Thalassemia
GPathogenic
HBA2, LOC106804612
(G16C)
Single nucleotide variant
(missense variant)
alpha Thalassemia
GLikely pathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
Hereditary persistence of fetal hemoglobin
+10 more
GUncertain significance
HBA1, LOC106804613
(L110fs)
Deletion
(frameshift variant)
alpha Thalassemia
+5 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
Malaria, susceptibility to
+9 more
GUncertain significance
HBA2, LOC106804612
Single nucleotide variant
not provided
GBenign
NPRL3
Copy number loss
alpha Thalassemia
Gnot provided
HBA1, LOC106804613
(M1fs)
Deletion
(frameshift variant +1 more)
alpha Thalassemia
GLikely pathogenic
HBA1, LOC106804613
Deletion
(splice donor variant)
alpha Thalassemia
GLikely pathogenic
HBA2, LOC106804612
(G19fs)
Deletion
(frameshift variant)
alpha Thalassemia
GPathogenic
HBA2, LOC106804612
Deletion
(intron variant)
not provided
GLikely benign
HBA2, LOC106804612
(S82F)
Single nucleotide variant
(missense variant)
alpha Thalassemia
GBenign
HBA2, LOC106804612
(E24K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBA1, LOC106804613
(S50R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBA2, LOC106804612
(E28G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBA1, LOC106804613
(G60R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HBA1, LOC106804613
Single nucleotide variant
(intron variant)
alpha Thalassemia
GUncertain significance
HBA1, LOC106804613
(D86V)
Single nucleotide variant
(missense variant)
alpha Thalassemia
GUncertain significance
HBA2, LOC106804612
(Y25C)
Single nucleotide variant
(missense variant)
alpha Thalassemia
GUncertain significance
HBA1, LOC106804613
(M1R)
Single nucleotide variant
(missense variant +1 more)
alpha Thalassemia
GPathogenic
HBA-LCR, HBA1
+8 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+1 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+1 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+1 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+5 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+5 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, LOC106804613
(V133fs)
Duplication
(frameshift variant)
alpha Thalassemia
GPathogenic
HBA2, LOC106804612
(L126Q)
Single nucleotide variant
(missense variant)
alpha Thalassemia
GPathogenic
HBA1, LOC106804613
Deletion
alpha Thalassemia
GBenign
LOC106804612, HBA2
Single nucleotide variant
alpha Thalassemia
GBenign
HBA1, HBA2
+5 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, LOC106804613
+5 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
Indel
alpha Thalassemia
GPathogenic
HBA2, HBA1
Deletion
alpha Thalassemia
GPathogenic
HBA2, LOC106804612
Single nucleotide variant
(3 prime UTR variant)
alpha Thalassemia
GUncertain significance
HBA2, LOC106804612
Single nucleotide variant
alpha Thalassemia
+4 more
GUncertain significance
HBA1, LOC106804613
(P120S)
Single nucleotide variant
(missense variant)
alpha Thalassemia
+5 more
GPathogenic
HBA2, LOC106804612
Single nucleotide variant
(synonymous variant)
HBA2-related disorder
+1 more
GLikely benign
HBA2, LOC106804612
(K8N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HBA2, LOC106804612
Indel
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
HBA1, LOC106804613
Single nucleotide variant
(synonymous variant)
HBA1-related disorder
+1 more
GLikely benign
HBA2, LOC106804612
(C105R)
Single nucleotide variant
(missense variant)
alpha Thalassemia
GPathogenic
HBA1, LOC106804613
Single nucleotide variant
(splice acceptor variant)
HBA1-related disorder
+6 more
GPathogenic/Likely pathogenic
HBA1, LOC106804613
(R32fs)
Microsatellite
(frameshift variant)
not provided
+5 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+10 more
GLikely benign
HBA2, LOC106804612
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
+9 more
GBenign/Likely benign
HBA2, LOC106804612
(H90fs)
Deletion
(frameshift variant)
alpha Thalassemia
GLikely pathogenic
HBQ1, HBA1
+2 more
Copy number loss
alpha Thalassemia
GPathogenic
HBA1, HBA2
Copy number loss
alpha Thalassemia
GPathogenic
LOC106099062, LOC107133510
+1 more
(G57S)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
LOC106804613, HBA1
(N79fs)
Deletion
(frameshift variant)
not provided
+6 more
GPathogenic/Likely pathogenic
HBA2, LOC106804612
(Y25*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HBA2, LOC106804612
(M33R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
HBA1, LOC106804613
(V63fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not specified
+10 more
GUncertain significance
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
+10 more
GUncertain significance
HBA1, HBA2
+5 more
Deletion
alpha Thalassemia
GPathogenic
HBA-LCR, HBA1
+8 more
Deletion
alpha Thalassemia
GPathogenic
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
HBB, LOC106099062
+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
HBA2, LOC106804612
Deletion
(3 prime UTR variant)
alpha Thalassemia
+1 more
GPathogenic/Likely pathogenic
HBA1, HBA2
+1 more
(H123Q)
Single nucleotide variant
(missense variant)
Hemoglobin H disease
+4 more
GUncertain significance
HBA2, LOC106804612
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
HBA1, LOC106804613
Single nucleotide variant
(intron variant)
not provided
GBenign
HBB, LOC106099062
+1 more
(R41S)
Single nucleotide variant
(missense variant)
Hb SS disease
+9 more
GUncertain significance
HBA2, LOC106804612
Single nucleotide variant
(splice donor variant)
not specified
+1 more
GPathogenic
HBA2, LOC106804612
(E24fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HBA2, LOC106804612
(W15C)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HBA2, LOC106804612
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
HBA2, LOC106804612
(G60D)
Single nucleotide variant
(missense variant)
Non-immune hydrops fetalis
+2 more
GPathogenic
HBA2, LOC106804612
Single nucleotide variant
(3 prime UTR variant)
Erythrocytosis, familial, 7
+3 more
GBenign
HBA1, LOC106804613
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
HBA1, LOC106804613
(W15R)
Single nucleotide variant
(missense variant)
alpha Thalassemia
+1 more
GPathogenic/Likely pathogenic
HBA1, LOC106804613
Single nucleotide variant
not provided
GBenign/Likely benign
HBA1, LOC106804613
Single nucleotide variant
(synonymous variant)
HBA1-related disorder
+1 more
GLikely benign
HBA1, LOC106804613
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
HBA1, LOC106804613
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign/Likely benign
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