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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBB, LOC106099062
+1 more
Deletion
Beta thalassemia intermedia
GLikely pathogenic
LOC107133510, LOC110006319
+1 more
Single nucleotide variant
(3 prime UTR variant)
Beta thalassemia intermedia
+1 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
+2 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Beta-thalassemia HBB/LCRB
+12 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Beta-thalassemia HBB/LCRB
+3 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
(L115P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HBB, LOC107133510
+1 more
(V127G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
+1 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Beta-thalassemia HBB/LCRB
+11 more
GPathogenic/Likely pathogenic
LOC107133510, HBB
+1 more
Single nucleotide variant
not provided
+1 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
Beta-thalassemia HBB/LCRB
+11 more
GPathogenic/Likely pathogenic
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