"GeneDx"[submitter] AND "HBB"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 256342	NM_000518.4(HBB):c.*316A>C	HBB, LOC107133510 +1 more	Single nucleotide variant	not provided +1 more	GBenign
Select item 256341	NC_000011.10:g.5225365C>G	HBB, LOC107133510 +1 more	Single nucleotide variant	not specified +1 more	GBenign
Select item 36331	NM_000518.5(HBB):c.*96T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	beta Thalassemia +1 more	GConflicting classifications of pathogenicity
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 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 15286	NM_000518.5(HBB):c.341T>A (p.Val114Glu)	HBB, LOC107133510 +1 more (V114E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 36316	NM_000518.5(HBB):c.316-185C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +2 more	GBenign
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 439774	NM_000518.5(HBB):c.315+81C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 439775	NM_000518.5(HBB):c.315+74T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +1 more	GBenign
Select item 256345	NM_000518.5(HBB):c.315+16G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 869356	NM_000518.5(HBB):c.315+5G>C	HBB, LOC106099062 +2 more	Single nucleotide variant (intron variant)	not provided	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 632846	NM_000518.5(HBB):c.235del (p.Leu79fs)	HBB, LOC106099062 +1 more (L79fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 15527	NM_000518.4(HBB):c.203T>G (p.Val68Gly)	HBB, LOC106099062 +1 more (V68G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 15190	NM_000518.5(HBB):c.128T>C (p.Phe43Ser)	HBB, LOC106099062 +1 more (F43S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 15549	NM_000518.5(HBB):c.116C>A (p.Thr39Asn)	HBB, LOC106099062 +1 more (T39N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15405	NM_000518.5(HBB):c.114G>A (p.Trp38Ter)	HBB, LOC106099062 +1 more (W38*)	Single nucleotide variant (nonsense)	beta Thalassemia +3 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 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 15448	NM_000518.5(HBB):c.92+5G>T	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
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 15184	NM_000518.4(HBB):c.83C>T (p.Ala28Val)	HBB, LOC106099062 +1 more (A28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 15171	NM_000518.4(HBB):c.68A>C (p.Glu23Ala)	HBB, LOC106099062 +1 more (E23A)	Single nucleotide variant (missense variant)	beta Thalassemia +2 more	GConflicting classifications of pathogenicity
Select item 15151	NM_000518.4(HBB):c.67G>C (p.Glu23Gln)	LOC106099062, LOC107133510 +1 more (E23Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15300	NM_000518.5(HBB):c.61G>A (p.Val21Met)	HBB, LOC106099062 +1 more (V21M)	Single nucleotide variant (missense variant)	not provided +9 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 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 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 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 193106	NM_000518.5(HBB):c.9T>C (p.His3=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +14 more	GBenign
Select item 3364255	NM_000518.5(HBB):c.-1C>T	HBB, LOC106099062 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 15469	NC_000011.10:g.5227100T>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +11 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 36282	NC_000011.10:g.5227154C>T	LOC106099062, LOC107133510 +1 more	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15465	NC_000011.10:g.5227157G>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GPathogenic/Likely pathogenic
Select item 36287	NC_000011.10:g.5227158G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +2 more	GPathogenic
Select item 15464	NM_000518.5(HBB):c.-137C>G	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +11 more	GPathogenic/Likely pathogenic
Select item 15460	NC_000011.10:g.5227159G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +3 more	GPathogenic/Likely pathogenic
Select item 15514	NM_000518.5(HBB):c.-140C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	HBB-related disorder +3 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
Select item 869329	NC_000011.10:g.5227411G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GBenign
Select item 869330	NC_000011.10:g.5227540G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1250619	NC_000011.10:g.5227562T>G	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GBenign
Select item 253972	GRCh37/hg19 11p15.4(chr11:5248267-5255227)x4	HBD, HBB	Copy number gain	See cases	GUncertain significance

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Items: 65