"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801182	NM_000518.4(HBB):c.*160A>G	LOC107133510, LOC110006319 +1 more	Single nucleotide variant	not provided	GUncertain significance
Select item 705908	NC_000011.10:g.5225460A>C	HBB, LOC107133510 +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)	not provided +10 more	GUncertain significance
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 439131	NM_000518.5(HBB):c.*116dup	HBB, LOC107133510 +1 more	Duplication (3 prime UTR variant)	not specified +1 more	GUncertain significance
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 632843	NM_000518.5(HBB):c.110_111del	HBB, LOC107133510 +1 more	Deletion (3 prime UTR variant)	beta Thalassemia +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 +3 more	GPathogenic
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 619851	NM_000518.5(HBB):c.*93A>T	LOC107133510, LOC110006319 +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 993837	NM_000518.5(HBB):c.*74A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 495969	NM_000518.5(HBB):c.*62A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Dominant beta-thalassemia +10 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 provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 439161	NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)	HBB, LOC107133510 +1 more	Duplication (frameshift variant +1 more)	Hemoglobinopathy +2 more	GConflicting classifications of pathogenicity
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 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 36329	NM_000518.5(HBB):c.432C>T (p.His144=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 15090	NM_000518.5(HBB):c.431A>G (p.His144Arg)	HBB, LOC107133510 +1 more (H144R)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 801193	NM_000518.5(HBB):c.427G>A (p.Ala143Thr)	HBB, LOC107133510 +1 more (A143T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 15298	NM_000518.5(HBB):c.425T>G (p.Leu142Arg)	LOC107133510, LOC110006319 +1 more (L142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 15588	NM_000518.4(HBB):c.404T>C (p.Val135Ala)	HBB, LOC107133510 +1 more (V135A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 36327	NM_000518.5(HBB):c.402G>C (p.Val134=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1330067	NM_000518.5(HBB):c.399A>T (p.Lys133Asn)	HBB, LOC107133510 +1 more (K133N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15233	NM_000518.5(HBB):c.397A>C (p.Lys133Gln)	HBB, LOC107133510 +1 more (K133Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 439160	NM_000518.5(HBB):c.394C>G (p.Gln132Glu)	HBB, LOC107133510 +1 more (Q132E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15349	NM_000518.5(HBB):c.394C>A (p.Gln132Lys)	LOC110006319, HBB +1 more (Q132K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 801192	NM_000518.5(HBB):c.393T>A (p.Tyr131Ter)	LOC107133510, HBB +1 more (Y131*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 439159	NM_000518.5(HBB):c.387_389del (p.Ala130del)	HBB, LOC107133510 +1 more (A130del)	Deletion (inframe_deletion)	not specified	GUncertain significance
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 1705074	NM_000518.5(HBB):c.382C>T (p.Gln128Ter)	HBB, LOC107133510 +1 more (Q128*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 15201	NM_000518.5(HBB):c.380T>A (p.Val127Glu)	LOC107133510, LOC110006319 +1 more (V127E)	Single nucleotide variant (missense variant)	beta Thalassemia +1 more	GConflicting classifications of pathogenicity
Select item 15106	NM_000518.5(HBB):c.380T>C (p.Val127Ala)	HBB, LOC107133510 +1 more (V127A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 993110	NM_000518.5(HBB):c.378_379del (p.Val127fs)	LOC110006319, HBB +1 more (V127fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 439158	NM_000518.5(HBB):c.378A>T (p.Pro126=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 15569	NM_000518.4(HBB):c.374C>T (p.Pro125Leu)	HBB, LOC110006319 +1 more (P125L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 15380	NM_000518.4(HBB):c.374C>A (p.Pro125Gln)	HBB, LOC107133510 +1 more (P125Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15385	NM_000518.4(HBB):c.371C>T (p.Thr124Ile)	HBB, LOC110006319 +1 more (T124I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 15329	NM_000518.5(HBB):c.363A>C (p.Lys121Asn)	HBB, LOC107133510 +1 more (K121N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 36324	NM_000518.5(HBB):c.353A>G (p.His118Arg)	HBB, LOC107133510 +1 more (H118R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 439157	NM_000518.5(HBB):c.351T>A (p.His117Gln)	HBB, LOC107133510 +1 more (H117Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15513	NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	HBB, LOC107133510 +1 more (L115P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2681990	NM_000518.5(HBB):c.342dup (p.Leu115fs)	HBB, LOC107133510 +1 more (L115fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 801191	NM_000518.5(HBB):c.333G>A (p.Leu111=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 15342	NM_000518.5(HBB):c.328G>A (p.Val110Met)	HBB, LOC107133510 +1 more (V110M)	Single nucleotide variant (missense variant)	beta Thalassemia +2 more	GPathogenic/Likely pathogenic
Select item 15230	NM_000518.5(HBB):c.328G>C (p.Val110Leu)	HBB, LOC107133510 +1 more (V110L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 439153	NM_000518.5(HBB):c.323dup (p.Asn109fs)	HBB, LOC107133510 +1 more (N109fs)	Duplication (frameshift variant)	not provided +1 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 +5 more	GConflicting classifications of pathogenicity
Select item 869278	NM_000518.5(HBB):c.319C>G (p.Leu107Val)	HBB, LOC107133510 +1 more (L107V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15480	NM_000518.5(HBB):c.316C>T (p.Leu106Phe)	HBB, LOC107133510 +1 more (L106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 38671	NM_000518.5(HBB):c.316-1G>T	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 15512	NM_000518.5(HBB):c.316-1G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	not provided	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 21190	NM_000518.5(HBB):c.316-2A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1330020	NM_000518.5(HBB):c.316-3C>T	LOC110006319, HBB +1 more	Single nucleotide variant (intron variant)	Heinz body anemia +9 more	GUncertain significance
Select item 619687	NM_000518.5(HBB):c.316-3C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
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 2681989	NM_000518.5(HBB):c.316-7C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 393706	NM_000518.5(HBB):c.316-7C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 495993	NM_000518.5(HBB):c.316-19T>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 984465	NM_000518.5(HBB):c.316-85A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1330138	NM_000518.5(HBB):c.316-91del	HBB, LOC107133510 +1 more	Deletion (intron variant)	not provided	GUncertain significance
Select item 36321	NM_000518.5(HBB):c.316-96G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1148938	NM_000518.5(HBB):c.316-100T>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 633261	NM_000518.5(HBB):c.316-102C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 993075	NM_000518.5(HBB):c.316-113_316-103del	HBB, LOC107133510 +1 more	Deletion (intron variant)	not provided	GUncertain significance
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 439148	NM_000518.5(HBB):c.316-107G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632849	NM_000518.5(HBB):c.316-114C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 801187	NM_000518.5(HBB):c.316-124A>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 801188	NM_000518.5(HBB):c.316-138G>T	LOC110006319, HBB +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 495991	NM_000518.5(HBB):c.316-138G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 36312	NM_000518.5(HBB):c.316-146T>G	LOC107133510, LOC110006319 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1125630	NM_000518.5(HBB):c.316-148G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 439150	NM_000518.5(HBB):c.316-156T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 439151	NM_000518.5(HBB):c.316-177A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2681988	NM_000518.5(HBB):c.316-179A>T	LOC110006319, HBB +1 more	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 632851	NM_000518.5(HBB):c.316-179A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 36315	NM_000518.5(HBB):c.316-184T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +1 more	GLikely benign

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