"Revvity Omics, Revvity"[submitter] AND "HBB"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 242712	NM_000518.5(HBB):c.359G>A (p.Gly120Asp)	HBB, LOC107133510 +1 more (G120D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15451	NM_000518.5(HBB):c.316-3C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	HBB-related disorder +11 more	GPathogenic/Likely pathogenic
Select item 36313	NM_000518.5(HBB):c.316-14T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 15457	NM_000518.5(HBB):c.316-106C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +10 more	GPathogenic/Likely pathogenic
Select item 439149	NM_000518.5(HBB):c.316-125A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15458	NM_000518.5(HBB):c.316-197C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 15438	NM_000518.5(HBB):c.315+1G>A	HBB, LOC106099062 +2 more	Single nucleotide variant (splice donor variant)	Dominant beta-thalassemia +11 more	GPathogenic
Select item 2432366	NM_000518.5(HBB):c.306G>T (p.Glu102Asp)	HBB, LOC106099062 +2 more (E102D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801186	NM_000518.5(HBB):c.294C>G (p.His98Gln)	LOC106099062, LOC107133510 +1 more (H98Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 2432365	NM_000518.5(HBB):c.289_290delinsGG (p.Leu97Gly)	HBB, LOC106099062 +1 more (L97G)	Indel (missense variant)	not provided	GUncertain significance
Select item 15278	NM_000518.5(HBB):c.286A>G (p.Lys96Glu)	HBB, LOC106099062 +1 more (K96E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15343	NM_000518.4(HBB):c.266T>C (p.Leu89Pro)	HBB, LOC106099062 +1 more (L89P)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +1 more	GPathogenic/Likely pathogenic
Select item 15244	NM_000518.4(HBB):c.220G>A (p.Asp74Asn)	LOC107133510, HBB +1 more (D74N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15138	NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	HBB, LOC106099062 +1 more (G70S)	Single nucleotide variant (missense variant)	Hb SS disease +11 more	GConflicting classifications of pathogenicity
Select item 15302	NM_000518.4(HBB):c.157G>A (p.Asp53Asn)	HBB, LOC106099062 +1 more (D53N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 15415	NM_000518.5(HBB):c.135del (p.Phe46fs)	HBB, LOC106099062 +1 more (F46fs)	Deletion (frameshift variant)	beta Thalassemia +10 more	GPathogenic/Likely pathogenic
Select item 15417	NM_000518.5(HBB):c.126_129del (p.Phe42fs)	HBB, LOC106099062 +1 more (F42fs)	Deletion (frameshift variant)	beta Thalassemia +12 more	GPathogenic/Likely pathogenic
Select item 15099	NM_000518.5(HBB):c.122G>A (p.Arg41Lys)	LOC106099062, LOC107133510 +1 more (R41K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15402	NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	HBB, LOC106099062 +1 more (Q40*)	Single nucleotide variant (nonsense)	alpha Thalassemia +11 more	GPathogenic
Select item 15424	NM_000518.5(HBB):c.110del (p.Pro37fs)	HBB, LOC106099062 +1 more (P37fs)	Deletion (frameshift variant)	beta Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 15442	NM_000518.5(HBB):c.93-22_95del	HBB, LOC106099062 +1 more	Deletion (splice acceptor variant)	not provided +4 more	GPathogenic
Select item 15454	NM_000518.5(HBB):c.93-21G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 2094782	NM_000518.5(HBB):c.93-38G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 15450	NM_000518.5(HBB):c.92+6T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +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)	not provided +13 more	GPathogenic
Select item 15437	NM_000518.5(HBB):c.92+1G>T	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 15436	NM_000518.5(HBB):c.92+1G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	beta Thalassemia +11 more	GPathogenic
Select item 15234	NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	HBB, LOC106099062 +1 more (R31T)	Single nucleotide variant (missense variant)	beta Thalassemia +4 more	GPathogenic
Select item 38682	NM_000518.5(HBB):c.90C>T (p.Gly30=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB, LOC106099062 +1 more (E27K)	Single nucleotide variant (missense variant)	Hb SS disease +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 15213	NM_000518.5(HBB):c.50G>A (p.Gly17Asp)	LOC107133510, HBB +1 more (G17D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 38646	NM_000518.5(HBB):c.48G>A (p.Trp16Ter)	HBB, LOC106099062 +1 more (W16*)	Single nucleotide variant (nonsense)	beta Thalassemia +1 more	GPathogenic
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	HBB-related disorder +15 more	GPathogenic
Select item 15126	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	LOC106099062, LOC107133510 +1 more (E7K)	Single nucleotide variant (missense variant)	HBB-related disorder +15 more	GPathogenic/Likely pathogenic
Select item 36285	NM_000518.5(HBB):c.-137C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +12 more	GPathogenic/Likely pathogenic
Select item 393701	NM_000518.5(HBB):c.-138C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +10 more	GPathogenic/Likely pathogenic
Select item 15461	NC_000011.10:g.5227172G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +10 more	GPathogenic

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Items: 38