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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBA1, LOC106804613
Single nucleotide variant
(splice donor variant)
Erythrocytosis, familial, 7
GLikely pathogenic
HBA1, LOC106804613
(L110fs)
Deletion
(frameshift variant)
alpha Thalassemia
+5 more
GPathogenic/Likely pathogenic
HBA2, LOC106804612
Single nucleotide variant
alpha Thalassemia
+4 more
GUncertain significance
HBA1, LOC106804613
(P120S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
HBA1, LOC106804613
(W15*)
Single nucleotide variant
(nonsense)
not specified
+1 more
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
LOC106804613, HBA1
(N79fs)
Deletion
(frameshift variant)
not provided
+6 more
GPathogenic/Likely pathogenic
HBA2, LOC106804612
+1 more
(H123Q)
Single nucleotide variant
(missense variant)
Hemoglobin H disease
+4 more
GUncertain significance
HBA2, LOC106804612
Single nucleotide variant
(3 prime UTR variant)
Erythrocytosis, familial, 7
+3 more
GBenign
HBA2, LOC106804612
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GConflicting classifications of pathogenicity
HBA2, LOC106804612
Deletion
(splice donor variant)
alpha Thalassemia
+4 more
GPathogenic
HBA1, LOC106804613
(Y141H)
Single nucleotide variant
(missense variant)
HEMOGLOBIN ROUEN
+2 more
GPathogenic; other
HBA1, HBA2
+1 more
(K41M)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 7
+1 more
GPathogenic; other
HBA1, LOC106804613
(D7G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBA1, LOC106804613
(R142H)
Single nucleotide variant
(missense variant)
HEMOGLOBIN SURESNES
+1 more
GPathogenic; other
HBA1, LOC106804613
(D127H)
Single nucleotide variant
(missense variant)
HEMOGLOBIN SASSARI
+1 more
GPathogenic; other
HBA1, LOC106804613
(A111D)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 7
+5 more
GLikely pathogenic
HBA1, LOC106804613
(R142C)
Single nucleotide variant
(missense variant)
HEMOGLOBIN NUNOBIKI
+1 more
GPathogenic; other
HBA1, LOC106804613
(P45L)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HBA1, LOC106804613
(A89S)
Single nucleotide variant
(missense variant)
HEMOGLOBIN LOIRE
+1 more
GPathogenic; other
HBA1, LOC106804613
(R142L)
Single nucleotide variant
(missense variant)
HEMOGLOBIN LEGNANO
+1 more
GPathogenic; other
HBA1, LOC106804613
(R93Q)
Single nucleotide variant
(missense variant)
HEMOGLOBIN J (CAPE TOWN)
+1 more
GPathogenic; other
HBA1, LOC106804613
(R93L)
Single nucleotide variant
(missense variant)
HEMOGLOBIN CHESAPEAKE
+1 more
GPathogenic; other
HBA2, LOC106804612
Single nucleotide variant
(splice acceptor variant)
Erythrocytosis, familial, 7
+4 more
GPathogenic
HBA2, LOC106804612
Single nucleotide variant
(splice acceptor variant)
Heinz body anemia
+3 more
GLikely pathogenic
HBA2, LOC106804612
Single nucleotide variant
(3 prime UTR variant)
Hemoglobin H disease
+5 more
GPathogenic/Likely pathogenic
HBA2, LOC106804612
(K140E)
Single nucleotide variant
(missense variant)
HEMOGLOBIN HANAMAKI
+1 more
GPathogenic; other
HBA2, LOC106804612
(D86V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HBA2, LOC106804612
(K62N)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 7
+1 more
GPathogenic; other
HBA2, LOC106804612
(L126P)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 7
+4 more
GPathogenic
HBA2, LOC106804612
(A89V)
Single nucleotide variant
(missense variant)
HEMOGLOBIN COLUMBIA MISSOURI
+1 more
GPathogenic; other
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