HBB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 869214	NC_000011.10:g.5218346_5226066del	LOC107133510, LOC110006319 +1 more	Deletion	beta Thalassemia	GPathogenic
Select item 1048666	NC_000011.10:g.5224303_5227790del	HBB, LOC106099062 +2 more	Deletion	beta Thalassemia	GPathogenic
Select item 869247	NC_000011.10:g.5225158_5227199del2042insCTTAT	HBB, LOC106099062 +2 more	Indel	beta Thalassemia	GPathogenic
Select item 256343	NM_000518.4(HBB):c.*353G>A	LOC107133510, LOC110006319 +1 more	Single nucleotide variant	not specified	GBenign
Select item 982010	NM_000518.4(HBB):c.316-149_*342delinsAAGTAGA	LOC110006319, HBB +1 more	Indel	Inborn genetic diseases +1 more	GPathogenic
Select item 256342	NM_000518.4(HBB):c.*316A>C	HBB, LOC107133510 +1 more	Single nucleotide variant	not specified +1 more	GBenign
Select item 703525	NM_000518.4(HBB):c.*296T>C	HBB, LOC107133510 +1 more	Single nucleotide variant	not provided	GBenign
Select item 704388	NM_000518.4(HBB):c.*246A>G	LOC107133510, HBB +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 643148	NC_000011.10:g.(?_5225365)_(5225905_?)del	HBB, LOC107133510 +1 more	Deletion	not provided	GPathogenic
Select item 256341	NM_000518.4(HBB):c.*233G>C	HBB, LOC107133510 +1 more	Single nucleotide variant	not specified +1 more	GBenign
Select item 256340	NM_000518.4(HBB):c.*231T>C	HBB, LOC107133510 +1 more	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 38701	NG_000007.3(HBB):g.71609_72227del	HBB, LOC107133510 +1 more	Deletion	beta Thalassemia	GPathogenic
Select item 702013	NM_000518.4(HBB):c.*182G>A	HBB, LOC107133510 +1 more	Single nucleotide variant	not provided +1 more	GBenign
Select item 549922	NM_000518.5(HBB):c.*132+34C>A	HBB, LOC107133510 +1 more	Single nucleotide variant	beta Thalassemia	GLikely benign
Select item 801182	NM_000518.4(HBB):c.*160A>G	HBB, LOC107133510 +1 more	Single nucleotide variant	not provided	GUncertain significance
Select item 1979288	NC_000011.10:g.5225454A>C	HBB, LOC107133510 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 705908	NM_000518.4(HBB):c.*138T>G	LOC110006319, HBB +1 more	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 1343492	NM_000518.5(HBB):c.*132C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Malaria, susceptibility to +10 more	GUncertain significance
Select item 862436	NM_000518.5(HBB):c.316_*132del (p.Leu106_Ter148del)	HBB, LOC107133510 +1 more	Deletion (stop lost +1 more)	not provided	GPathogenic
Select item 660167	NM_000518.5(HBB):c.316-149_*132del	HBB, LOC107133510 +1 more	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 439130	NM_000518.5(HBB):c.*132C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 801181	NM_000518.5(HBB):c.*129T>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1698654	NM_000518.5(HBB):c.*117C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 439131	NM_000518.5(HBB):c.*116dup	HBB, LOC107133510 +1 more	Duplication (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 869259	NM_000518.5(HBB):c.115_116del	HBB, LOC107133510 +1 more	Deletion (3 prime UTR variant)	beta Thalassemia	GPathogenic
Select item 15474	NM_000518.5(HBB):c.*116del	HBB, LOC107133510 +1 more	Deletion (3 prime UTR variant)	Beta-plus-thalassemia	GPathogenic
Select item 495967	NM_000518.5(HBB):c.*115A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
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 1723320	NM_000518.5(HBB):c.*112A>T	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 15476	NM_000518.5(HBB):c.*112A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Beta-plus-thalassemia	GPathogenic
Select item 632843	NM_000518.5(HBB):c.110_111del	LOC110006319, LOC107133510 +1 more	Deletion (3 prime UTR variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 15488	NM_000518.5(HBB):c.*111A>G	LOC110006319, HBB +1 more	Single nucleotide variant (3 prime UTR variant)	Hemoglobinopathy +1 more	GPathogenic
Select item 15475	NM_000518.5(HBB):c.110_111insG	HBB, LOC107133510 +1 more	Insertion (3 prime UTR variant)	Beta-plus-thalassemia	GPathogenic
Select item 36332	NM_000518.5(HBB):c.*110T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GPathogenic
Select item 15616	NM_000518.5(HBB):c.*110T>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Beta-plus-thalassemia	GPathogenic
Select item 869258	NM_000518.5(HBB):c.*108A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	beta Thalassemia	GPathogenic
Select item 869261	NM_000518.5(HBB):c.93_105del	HBB, LOC107133510 +1 more	Deletion (3 prime UTR variant)	beta Thalassemia	GPathogenic
Select item 618161	NM_000518.5(HBB):c.*104G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 495966	NM_000518.5(HBB):c.*102C>T	LOC110006319, HBB +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 811372	NM_000518.5(HBB):c.*97G>C	LOC110006319, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 36331	NM_000518.5(HBB):c.*96T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	HBB-related condition +2 more	GConflicting classifications of pathogenicity
Select item 619851	NM_000518.5(HBB):c.*93A>T	LOC110006319, HBB +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 36330	NM_000518.5(HBB):c.*91G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 1330140	NM_000518.5(HBB):c.*83G>T	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2681974	NM_000518.5(HBB):c.*78T>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 439780	NM_000518.5(HBB):c.*78T>C	LOC107133510, HBB +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 993837	NM_000518.5(HBB):c.*74A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 632855	NM_000518.5(HBB):c.*73T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 495970	NM_000518.5(HBB):c.*67G>T	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 632853	NM_000518.5(HBB):c.*65C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 495969	NM_000518.5(HBB):c.*62A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified +10 more	GUncertain significance
Select item 878836	NM_000518.5(HBB):c.*59A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	beta Thalassemia +3 more	GUncertain significance
Select item 2501084	NM_000518.5(HBB):c.*57C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 495968	NM_000518.5(HBB):c.*56A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 305000	NM_000518.5(HBB):c.*56A>T	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Hemoglobin E +3 more	GUncertain significance
Select item 305001	NM_000518.5(HBB):c.*53C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1 +3 more	GUncertain significance
Select item 1804687	NM_000518.5(HBB):c.*51G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 633254	NM_000518.5(HBB):c.*48T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 996256	NM_000518.5(HBB):c.*47C>G	LOC107133510, LOC110006319 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 984451	NM_000518.5(HBB):c.*47C>T	LOC110006319, HBB +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2429156	NM_000518.5(HBB):c.*37C>G	LOC110006319, HBB +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1127267	NM_000518.5(HBB):c.*34G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 633252	NM_000518.5(HBB):c.*33G>T	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 869260	NM_000518.5(HBB):c.*32A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	beta Thalassemia	GPathogenic
Select item 619684	NM_000518.5(HBB):c.*25C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 879417	NM_000518.5(HBB):c.*18C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1 +3 more	GUncertain significance
Select item 1809564	NM_000518.5(HBB):c.*16G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 393707	NM_000518.5(HBB):c.*6C>G	LOC107133510, LOC110006319 +1 more	Single nucleotide variant (3 prime UTR variant)	Beta thalassemia intermedia +1 more	GPathogenic/Likely pathogenic
Select item 2681972	NM_000518.5(HBB):c.*5G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2445817	NM_000518.5(HBB):c.*5G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2681971	NM_000518.5(HBB):c.*4C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 988273	NM_000518.5(HBB):c.316_444del (p.Leu106_Ter148del)	LOC110006319, HBB +1 more	Deletion (stop lost +1 more)	not provided	GPathogenic
Select item 439161	NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)	LOC110006319, HBB +1 more	Duplication (frameshift variant +1 more)	Beta-thalassemia HBB/LCRB +2 more	GConflicting classifications of pathogenicity
Select item 15601	NM_000518.5(HBB):c.441C>G (p.His147Gln)	HBB, LOC107133510 +1 more (H147Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN KODAIRA II	Gother
Select item 15498	NM_000518.5(HBB):c.441C>A (p.His147Gln)	HBB, LOC107133510 +1 more (H147Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN KODAIRA	Gother
Select item 15395	NM_000518.4(HBB):c.440A>C (p.His147Pro)	HBB, LOC107133510 +1 more (H147P)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15144	NM_000518.4(HBB):c.440A>T (p.His147Leu)	HBB, LOC107133510 +1 more (H147L)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15139	NM_000518.4(HBB):c.440A>G (p.His147Arg)	HBB, LOC107133510 +1 more (H147R)	Single nucleotide variant (missense variant)	HEMOGLOBIN COCHIN-PORT ROYAL	Gother
Select item 15577	NM_000518.4(HBB):c.439C>T (p.His147Tyr)	HBB, LOC107133510 +1 more (H147Y)	Single nucleotide variant (missense variant)	HEMOGLOBIN BOLOGNA-ST. ORSOLA	Gother
Select item 15200	NM_000518.4(HBB):c.439C>G (p.His147Asp)	HBB, LOC107133510 +1 more (H147D)	Single nucleotide variant (missense variant)	HEMOGLOBIN HIROSHIMA +1 more	GPathogenic; other
Select item 15265	NM_000518.5(HBB):c.438T>A (p.Tyr146Ter)	HBB, LOC107133510 +1 more (Y146*)	Single nucleotide variant (nonsense)	HEMOGLOBIN MCKEES ROCKS +1 more	GPathogenic; other
Select item 15322	NM_000518.5(HBB):c.437A>G (p.Tyr146Cys)	HBB, LOC107133510 +1 more (Y146C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 15145	NM_000518.5(HBB):c.436_437insCT (p.Tyr146fs)	HBB, LOC107133510 +1 more (Y146fs)	Insertion (frameshift variant)	HEMOGLOBIN CRANSTON	Gother
Select item 633256	NM_000518.5(HBB):c.436T>A (p.Tyr146Asn)	LOC107133510, HBB +1 more (Y146N)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GPathogenic
Select item 15112	NM_000518.5(HBB):c.436T>C (p.Tyr146His)	HBB, LOC107133510 +1 more (Y146H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1104204	NM_000518.5(HBB):c.435G>A (p.Lys145=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 156328	NM_000518.5(HBB):c.435G>T (p.Lys145Asn)	HBB, LOC107133510 +1 more (K145N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 15096	NM_000518.5(HBB):c.435G>C (p.Lys145Asn)	HBB, LOC107133510 +1 more (K145N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 15604	NM_000518.5(HBB):c.434del (p.Lys145fs)	HBB, LOC107133510 +1 more (K145fs)	Deletion (frameshift variant)	HEMOGLOBIN TRENTO	Gother
Select item 15576	NM_000518.5(HBB):c.434A>T (p.Lys145Met)	HBB, LOC107133510 +1 more (K145M)	Single nucleotide variant (missense variant)	HEMOGLOBIN BARBIZON	Gother
Select item 478887	NM_000518.5(HBB):c.433A>T (p.Lys145Ter)	HBB, LOC107133510 +1 more (K145*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 446749	NM_000518.4(HBB):c.[424C>G;433A>T]	HBB, LOC107133510 +1 more (K145* +1 more)	Single nucleotide variant (nonsense +1 more)	HEMOGLOBIN KOCHI	Gother
Select item 15478	NM_000518.5(HBB):c.425_433del (p.Leu142_Lys145delinsGln)	HBB, LOC107133510 +1 more	Deletion (inframe_indel)	HEMOGLOBIN BIRMINGHAM	Gother
Select item 15268	NM_000518.4(HBB):c.433A>G (p.Lys145Glu)	HBB, LOC110006319 +1 more (K145E)	Single nucleotide variant (missense variant)	HEMOGLOBIN MITO	Gother
Select item 36329	NM_000518.5(HBB):c.432C>T (p.His144=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign

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