"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "HBB"[ge - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 949

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 703525	NC_000011.10:g.5225302A>G	HBB, LOC107133510 +1 more	Single nucleotide variant	not provided	GBenign
Select item 704388	NC_000011.10:g.5225352T>C	HBB, LOC107133510 +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	NC_000011.10:g.5225365C>G	HBB, LOC107133510 +1 more	Single nucleotide variant	not provided +1 more	GBenign
Select item 256340	NC_000011.10:g.5225367A>G	HBB, LOC107133510 +1 more	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 702013	NC_000011.10:g.5225416C>T	HBB, LOC107133510 +1 more	Single nucleotide variant	not specified +1 more	GBenign
Select item 1979288	NC_000011.10:g.5225454A>C	HBB, LOC107133510 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 705908	NC_000011.10:g.5225460A>C	HBB, LOC107133510 +1 more	Single nucleotide variant	not specified +1 more	GBenign/Likely benign
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 15473	NM_000518.5(HBB):c.*113A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 15488	NM_000518.5(HBB):c.*111A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Beta-thalassemia HBB/LCRB +2 more	GPathogenic
Select item 36332	NM_000518.5(HBB):c.*110T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Hb SS disease +9 more	GPathogenic
Select item 36331	NM_000518.5(HBB):c.*96T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 393707	NM_000518.5(HBB):c.*6C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 439161	NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)	HBB, LOC107133510 +1 more	Duplication (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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
Select item 1121500	NM_000518.5(HBB):c.426G>T (p.Leu142=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999798	NM_000518.5(HBB):c.408T>C (p.Ala136=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762836	NM_000518.5(HBB):c.402G>A (p.Val134=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided +10 more	GLikely benign
Select item 36327	NM_000518.5(HBB):c.402G>C (p.Val134=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1459872	NM_000518.5(HBB):c.380_396del (p.Val127fs)	HBB, LOC107133510 +1 more (V127fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 15245	NM_000518.5(HBB):c.389C>T (p.Ala130Val)	HBB, LOC107133510 +1 more (A130V)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 991115	NM_000518.5(HBB):c.387T>A (p.Ala129=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142046	NM_000518.5(HBB):c.381G>A (p.Val127=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 15483	NM_000518.5(HBB):c.380T>G (p.Val127Gly)	HBB, LOC107133510 +1 more (V127G)	Single nucleotide variant (missense variant)	beta Thalassemia +2 more	GPathogenic/Likely pathogenic
Select item 2501083	NM_000518.5(HBB):c.372C>G (p.Thr124=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1321374	NM_000518.5(HBB):c.372C>A (p.Thr124=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1301331	NM_000518.5(HBB):c.372C>T (p.Thr124=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 15292	NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	LOC107133510, LOC110006319 +1 more (E122K)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +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)	Heinz body anemia +11 more	GPathogenic/Likely pathogenic
Select item 1120940	NM_000518.5(HBB):c.363A>G (p.Lys121=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045808	NM_000518.5(HBB):c.357T>C (p.Phe119=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844469	NM_000518.5(HBB):c.354C>T (p.His118=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752834	NM_000518.5(HBB):c.348C>T (p.Ala116=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873194	NM_000518.5(HBB):c.339T>C (p.Cys113=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552953	NM_000518.5(HBB):c.336C>T (p.Val112=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 801191	NM_000518.5(HBB):c.333G>A (p.Leu111=)	LOC110006319, HBB +1 more	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1997274	NM_000518.5(HBB):c.331C>T (p.Leu111=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1161533	NM_000518.5(HBB):c.330G>A (p.Val110=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 495997	NM_000518.5(HBB):c.327C>T (p.Asn109=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 439153	NM_000518.5(HBB):c.323dup (p.Asn109fs)	LOC107133510, LOC110006319 +1 more (N109fs)	Duplication (frameshift variant)	not provided +9 more	GPathogenic
Select item 36322	NM_000518.5(HBB):c.324C>T (p.Gly108=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	Hb SS disease +12 more	GConflicting classifications of pathogenicity
Select item 2735520	NM_000518.5(HBB):c.323G>A (p.Gly108Asp)	HBB, LOC107133510 +1 more (G108D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 552712	NM_000518.5(HBB):c.316-1G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	beta Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 21191	NM_000518.5(HBB):c.316-2A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic
Select item 21190	NM_000518.5(HBB):c.316-2A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	Beta-thalassemia major +1 more	GPathogenic
Select item 1330020	NM_000518.5(HBB):c.316-3C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 6 +9 more	GUncertain significance
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 551906	NM_000518.5(HBB):c.316-7C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 393706	NM_000518.5(HBB):c.316-7C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +2 more	GConflicting classifications of pathogenicity
Select item 15453	NM_000518.5(HBB):c.316-8T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789444	NM_000518.5(HBB):c.316-9C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1583301	NM_000518.5(HBB):c.316-9C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1117784	NM_000518.5(HBB):c.316-10C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1121225	NM_000518.5(HBB):c.316-11T>C	LOC110006319, HBB +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 810861	NM_000518.5(HBB):c.316-12T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2747182	NM_000518.5(HBB):c.316-13C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849566	NM_000518.5(HBB):c.316-14T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 36313	NM_000518.5(HBB):c.316-14T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 6 +9 more	GPathogenic/Likely pathogenic
Select item 1101246	NM_000518.5(HBB):c.316-15A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 495993	NM_000518.5(HBB):c.316-19T>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2826637	NM_000518.5(HBB):c.316-24A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742971	NM_000518.5(HBB):c.316-24A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086460	NM_000518.5(HBB):c.316-25C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964131	NM_000518.5(HBB):c.316-25C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 754508	NM_000518.5(HBB):c.316-26T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811518	NM_000518.5(HBB):c.316-27T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 633253	NM_000518.5(HBB):c.316-27T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1544426	NM_000518.5(HBB):c.316-28G>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 811029	NM_000518.5(HBB):c.316-28G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632850	NM_000518.5(HBB):c.316-28G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1623587	NM_000518.5(HBB):c.316-29T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 36317	NM_000518.5(HBB):c.316-30A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 1089508	NM_000518.5(HBB):c.316-31C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875907	NM_000518.5(HBB):c.316-33del	HBB, LOC107133510 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 799593	NM_000518.5(HBB):c.316-36C>T	LOC110006319, HBB +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 36318	NM_000518.5(HBB):c.316-37G>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2700062	NM_000518.5(HBB):c.316-38del	HBB, LOC107133510 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1962865	NM_000518.5(HBB):c.316-39T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632385	NM_000518.5(HBB):c.316-40T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1091467	NM_000518.5(HBB):c.316-42del	HBB, LOC107133510 +1 more	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 766099	NM_000518.5(HBB):c.316-42C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1588617	NM_000518.5(HBB):c.316-43C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651061	NM_000518.5(HBB):c.316-44C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 495995	NM_000518.5(HBB):c.316-45G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1673496	NM_000518.5(HBB):c.316-46G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107602	NM_000518.5(HBB):c.316-48del	HBB, LOC107133510 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 2107603	NM_000518.5(HBB):c.316-49C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617068	NM_000518.5(HBB):c.316-49C>A	LOC107133510, HBB +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815819	NM_000518.5(HBB):c.316-50G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877828	NM_000518.5(HBB):c.316-51A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1623512	NM_000518.5(HBB):c.316-53C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627864	NM_000518.5(HBB):c.316-56G>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564030	NM_000518.5(HBB):c.316-57A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837304	NM_000518.5(HBB):c.316-60C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 10