"Baylor Genetics"[submitter] AND "HBB"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36332	NM_000518.5(HBB):c.*110T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Hb SS disease +3 more	GPathogenic
Select item 15202	NM_000518.4(HBB):c.410G>A (p.Gly137Asp)	HBB, LOC107133510 +1 more (G137D)	Single nucleotide variant (missense variant)	beta Thalassemia +4 more	GConflicting classifications of pathogenicity
Select item 15245	NM_000518.5(HBB):c.389C>T (p.Ala130Val)	HBB, LOC107133510 +1 more (A130V)	Single nucleotide variant (missense variant)	Hemoglobinopathy +2 more	GConflicting classifications of pathogenicity
Select item 15404	NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	HBB, LOC107133510 +1 more (E122*)	Single nucleotide variant (nonsense)	Dominant beta-thalassemia +2 more	GPathogenic
Select item 15292	NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	HBB, LOC107133510 +1 more (E122K)	Single nucleotide variant (missense variant)	Sickle cell-Hemoglobin O Arab disease +11 more	GPathogenic/Likely pathogenic
Select item 15152	NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	HBB, LOC107133510 +1 more (E122Q)	Single nucleotide variant (missense variant)	HBB-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 15352	NM_000518.4(HBB):c.332T>C (p.Leu111Pro)	HBB, LOC107133510 +1 more (L111P)	Single nucleotide variant (missense variant)	Hb SS disease +2 more	GPathogenic
Select item 21191	NM_000518.5(HBB):c.316-2A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	beta Thalassemia +10 more	GPathogenic
Select item 551906	NM_000518.5(HBB):c.316-7C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 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 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 15406	NM_000518.5(HBB):c.130G>T (p.Glu44Ter)	LOC107133510, HBB +1 more (E44*)	Single nucleotide variant (nonsense)	beta Thalassemia +3 more	GPathogenic
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 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 15431	NM_000518.5(HBB):c.112del (p.Trp38fs)	HBB, LOC106099062 +1 more (W38fs)	Deletion (frameshift variant)	Hemoglobinopathy +11 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 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 15432	NM_000518.5(HBB):c.85dup (p.Leu29fs)	HBB, LOC106099062 +1 more (L29fs)	Duplication (frameshift variant)	Hb SS disease +3 more	GPathogenic/Likely pathogenic
Select item 15239	NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	HBB, LOC106099062 +1 more (A28S)	Single nucleotide variant (missense variant)	beta Thalassemia +4 more	GPathogenic/Likely pathogenic
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 15459	NM_000518.5(HBB):c.75T>A (p.Gly25=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Hb SS disease +10 more	GPathogenic/Likely pathogenic
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 15403	NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	HBB, LOC106099062 +1 more (W16*)	Single nucleotide variant (nonsense)	beta Thalassemia +3 more	GPathogenic
Select item 36308	NM_000518.5(HBB):c.27dup (p.Ser10fs)	LOC106099062, LOC107133510 +1 more (S10fs)	Duplication (frameshift variant)	beta Thalassemia +11 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 15418	NM_000518.5(HBB):c.20del (p.Glu7fs)	HBB, LOC106099062 +1 more (E7fs)	Deletion (frameshift variant)	beta Thalassemia +10 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 15422	NM_000518.5(HBB):c.17_18del (p.Pro6fs)	HBB, LOC106099062 +1 more (P6fs)	Deletion (frameshift variant)	beta Thalassemia +10 more	GPathogenic
Select item 15434	NM_000518.5(HBB):c.2T>G (p.Met1Arg)	HBB, LOC106099062 +1 more (M1R)	Single nucleotide variant (missense variant +1 more)	Hb SS disease +2 more	GPathogenic
Select item 15471	NM_000518.5(HBB):c.-78A>G	HBB, LOC106099062 +1 more	Single nucleotide variant	Hb SS disease +2 more	GPathogenic/Likely pathogenic
Select item 15470	NM_000518.5(HBB):c.-78A>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +10 more	GPathogenic
Select item 36281	NM_000518.5(HBB):c.-106G>C	LOC106099062, LOC107133510 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +3 more	GUncertain significance
Select item 36287	NC_000011.10:g.5227158G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +2 more	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic

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Items: 41