ClinVar for PubMed (Select 9140720) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 869321	NM_000518.5(HBB):c.93G>C (p.Arg31Ser)	HBB, LOC106099062 +1 more (R31S)	Single nucleotide variant (missense variant)	beta Thalassemia	GPathogenic
Select item 439166	NM_000518.5(HBB):c.93-1G>C	LOC107133510, HBB +1 more	Single nucleotide variant (splice acceptor variant)	Beta-thalassemia major +1 more	GPathogenic
Select item 36306	NM_000518.5(HBB):c.251del (p.Gly84fs)	HBB, LOC106099062 +1 more (G84fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +2 more	GPathogenic
Select item 36292	NM_000518.5(HBB):c.-50A>C	HBB, LOC106099062 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GPathogenic
Select item 15506	NM_000518.5(HBB):c.110_114del	HBB, LOC107133510 +1 more	Deletion (3 prime UTR variant)	Beta-plus-thalassemia +1 more	GPathogenic
Select item 15473	NM_000518.5(HBB):c.*113A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	beta Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 15461	NM_000518.5(HBB):c.-151C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +11 more	GConflicting classifications of pathogenicity
Select item 15457	NM_000518.5(HBB):c.316-106C>G	LOC107133510, LOC110006319 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic
Select item 15451	NM_000518.5(HBB):c.316-3C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic/Likely pathogenic
Select item 15431	NM_000518.5(HBB):c.112del (p.Trp38fs)	HBB, LOC106099062 +1 more (W38fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15413	NM_000518.5(HBB):c.25_26del (p.Lys9fs)	HBB, LOC106099062 +1 more (K9fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +4 more	GPathogenic
Select item 15405	NM_000518.5(HBB):c.114G>A (p.Trp38Ter)	HBB, LOC106099062 +1 more (W38*)	Single nucleotide variant (nonsense)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 15368	NM_000518.5(HBB):c.93G>T (p.Arg31Ser)	HBB, LOC106099062 +1 more (R31S)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +2 more	GUncertain significance
Select item 15239	NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	HBB, LOC106099062 +1 more (A28S)	Single nucleotide variant (missense variant)	Hemoglobinopathy +4 more	GPathogenic/Likely pathogenic
Select item 15234	NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	HBB, LOC106099062 +1 more (R31T)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic