"MGZ Medical Genetics Center"[submitter] AND "HBB"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 15457	NM_000518.5(HBB):c.316-106C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +10 more	GPathogenic
Select item 15438	NM_000518.5(HBB):c.315+1G>A	LOC110006319, HBB +2 more	Single nucleotide variant (splice donor variant)	not provided +11 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 15402	NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	HBB, LOC106099062 +1 more (Q40*)	Single nucleotide variant (nonsense)	not provided +12 more	GPathogenic
Select item 15368	NM_000518.5(HBB):c.93G>T (p.Arg31Ser)	HBB, LOC106099062 +1 more (R31S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 15454	NM_000518.5(HBB):c.93-21G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +12 more	GPathogenic/Likely pathogenic
Select item 15447	NM_000518.5(HBB):c.92+5G>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +13 more	GPathogenic
Select item 15436	NM_000518.5(HBB):c.92+1G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB, LOC106099062 +1 more (E27K)	Single nucleotide variant (missense variant)	HBB-related condition +15 more	GPathogenic
Select item 15401	NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	HBB, LOC106099062 +1 more (K18*)	Single nucleotide variant (nonsense)	beta Thalassemia +10 more	GPathogenic
Select item 15413	NM_000518.5(HBB):c.25_26del (p.Lys9fs)	HBB, LOC106099062 +1 more (K9fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	not provided +16 more	GPathogenic
Select item 15126	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	HBB, LOC106099062 +1 more (E7K)	Single nucleotide variant (missense variant)	not provided +16 more	GPathogenic
Select item 15514	NM_000518.5(HBB):c.-140C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +3 more	GPathogenic/Likely pathogenic