"Natera, Inc."[submitter] AND "LOC107133510"[gene] - ClinVar - NCBI

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	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)	beta Thalassemia +3 more	GPathogenic
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 15197	NM_000518.4(HBB):c.422C>A (p.Ala141Asp)	LOC107133510, HBB +1 more (A141D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15588	NM_000518.4(HBB):c.404T>C (p.Val135Ala)	LOC107133510, LOC110006319 +1 more (V135A)	Single nucleotide variant (missense variant)	not provided +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)	Hb SS disease +6 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 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)	Hb SS disease +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)	Hb SS 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)	Hb SS disease +5 more	GPathogenic/Likely pathogenic
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 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 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 36322	NM_000518.5(HBB):c.324C>T (p.Gly108=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	beta Thalassemia +5 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 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 15451	NM_000518.5(HBB):c.316-3C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Hb SS disease +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 specified +3 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 15457	NM_000518.5(HBB):c.316-106C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +10 more	GPathogenic
Select item 439149	NM_000518.5(HBB):c.316-125A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +2 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)	not provided +2 more	GBenign
Select item 15458	NM_000518.5(HBB):c.316-197C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	HBB-related disorder +4 more	GPathogenic
Select item 439774	NM_000518.5(HBB):c.315+81C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +1 more	GBenign
Select item 439775	NM_000518.5(HBB):c.315+74T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 439776	NM_000518.5(HBB):c.315+26T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256345	NM_000518.5(HBB):c.315+16G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 15438	NM_000518.5(HBB):c.315+1G>A	LOC107133510, LOC110006319 +2 more	Single nucleotide variant (splice donor variant)	Hb SS disease +11 more	GPathogenic
Select item 36311	NM_000518.5(HBB):c.309C>A (p.Asn103Lys)	HBB, LOC106099062 +2 more (N103K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 619685	NM_000518.5(HBB):c.292_295dup (p.Val99fs)	LOC107133510, HBB +1 more (V99fs)	Duplication (frameshift variant)	Hemoglobinopathy +1 more	GPathogenic/Likely pathogenic
Select item 15241	NM_000518.5(HBB):c.295G>A (p.Val99Met)	HBB, LOC106099062 +1 more (V99M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 439783	NM_000518.5(HBB):c.294C>T (p.His98=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 36309	NM_000518.5(HBB):c.287dup (p.Leu97fs)	HBB, LOC106099062 +1 more (L97fs)	Duplication (frameshift variant)	beta Thalassemia +1 more	GPathogenic
Select item 15278	NM_000518.5(HBB):c.286A>G (p.Lys96Glu)	HBB, LOC106099062 +1 more (K96E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15504	NM_000518.5(HBB):c.271G>T (p.Glu91Ter)	HBB, LOC106099062 +1 more (E91*)	Single nucleotide variant (nonsense)	beta Thalassemia +1 more	GPathogenic
Select item 15091	NM_000518.4(HBB):c.271G>A (p.Glu91Lys)	LOC107133510, HBB +1 more (E91K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 15150	NM_000518.4(HBB):c.263C>A (p.Thr88Lys)	LOC106099062, LOC107133510 +1 more (T88K)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 36306	NM_000518.5(HBB):c.251del (p.Gly84fs)	HBB, LOC106099062 +1 more (G84fs)	Deletion (frameshift variant)	beta Thalassemia +2 more	GPathogenic
Select item 439778	NM_000518.5(HBB):c.246C>A (p.Leu82=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 36305	NM_000518.5(HBB):c.246C>G (p.Leu82=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	beta Thalassemia +1 more	GLikely benign
Select item 1217240	NM_000518.5(HBB):c.241A>T (p.Asn81Tyr)	HBB, LOC106099062 +1 more (N81Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 991116	NM_000518.5(HBB):c.237G>C (p.Leu79=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	beta Thalassemia	GUncertain significance
Select item 15168	NM_000518.4(HBB):c.232C>T (p.His78Tyr)	HBB, LOC106099062 +1 more (H78Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 15420	NM_000518.5(HBB):c.230del (p.Ala77fs)	HBB, LOC106099062 +1 more (A77fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 495982	NM_000518.5(HBB):c.223G>A (p.Gly75Ser)	HBB, LOC106099062 +1 more (G75S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 15244	NM_000518.4(HBB):c.220G>A (p.Asp74Asn)	HBB, LOC106099062 +1 more (D74N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15419	NM_000518.5(HBB):c.217dup (p.Ser73fs)	HBB, LOC106099062 +1 more (S73fs)	Duplication (frameshift variant)	beta Thalassemia +2 more	GPathogenic/Likely pathogenic
Select item 15407	NM_000518.5(HBB):c.184A>T (p.Lys62Ter)	HBB, LOC106099062 +1 more (K62*)	Single nucleotide variant (nonsense)	beta Thalassemia +10 more	GPathogenic
Select item 15280	NM_000518.4(HBB):c.184A>G (p.Lys62Glu)	LOC106099062, LOC107133510 +1 more (K62E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 439139	NM_000518.5(HBB):c.180G>A (p.Lys60=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 15224	NM_000518.5(HBB):c.180G>C (p.Lys60Asn)	LOC107133510, LOC106099062 +1 more (K60N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 632845	NM_000518.5(HBB):c.176del (p.Pro59fs)	HBB, LOC106099062 +1 more (P59fs)	Deletion (frameshift variant)	Hemoglobinopathy +1 more	GLikely pathogenic
Select item 928761	NM_000518.5(HBB):c.167T>C (p.Met56Thr)	HBB, LOC106099062 +1 more (M56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15362	NM_000518.4(HBB):c.157G>C (p.Asp53His)	LOC106099062, LOC107133510 +1 more (D53H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 15302	NM_000518.4(HBB):c.157G>A (p.Asp53Asn)	HBB, LOC106099062 +1 more (D53N)	Single nucleotide variant (missense variant)	beta Thalassemia +2 more	GConflicting classifications of pathogenicity
Select item 495980	NM_000518.5(HBB):c.151A>T (p.Thr51Ser)	HBB, LOC106099062 +1 more (T51S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 15485	NM_000518.5(HBB):c.143dup (p.Asp48fs)	HBB, LOC106099062 +1 more (D48fs)	Duplication (frameshift variant)	beta Thalassemia +1 more	GPathogenic
Select item 15415	NM_000518.5(HBB):c.135del (p.Phe46fs)	LOC106099062, LOC107133510 +1 more (F46fs)	Deletion (frameshift variant)	Hb SS disease +10 more	GPathogenic/Likely pathogenic
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)	Inborn genetic diseases +13 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 849512	NM_000518.5(HBB):c.126del (p.Phe43fs)	HBB, LOC106099062 +1 more (F43fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 439134	NM_000518.5(HBB):c.123G>T (p.Arg41Ser)	HBB, LOC106099062 +1 more (R41S)	Single nucleotide variant (missense variant)	Dominant beta-thalassemia +9 more	GUncertain significance
Select item 15402	NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	HBB, LOC106099062 +1 more (Q40*)	Single nucleotide variant (nonsense)	beta Thalassemia +12 more	GPathogenic
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 439782	NM_000518.5(HBB):c.113G>A (p.Trp38Ter)	HBB, LOC106099062 +1 more (W38*)	Single nucleotide variant (nonsense)	not specified +1 more	GPathogenic
Select item 15431	NM_000518.5(HBB):c.112del (p.Trp38fs)	HBB, LOC106099062 +1 more (W38fs)	Deletion (frameshift variant)	Hb SS disease +11 more	GPathogenic
Select item 15424	NM_000518.5(HBB):c.110del (p.Pro37fs)	HBB, LOC106099062 +1 more (P37fs)	Deletion (frameshift variant)	beta Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 15442	NM_000518.5(HBB):c.93-22_95del	HBB, LOC106099062 +1 more	Deletion (splice acceptor variant)	beta Thalassemia +4 more	GPathogenic
Select item 15368	NM_000518.5(HBB):c.93G>T (p.Arg31Ser)	HBB, LOC106099062 +1 more (R31S)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +2 more	GUncertain significance
Select item 439166	NM_000518.5(HBB):c.93-1G>C	HBB, LOC106099062 +1 more	Single nucleotide variant (splice acceptor variant)	Beta-thalassemia major +1 more	GPathogenic
Select item 15446	NM_000518.5(HBB):c.93-1G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (splice acceptor variant)	beta Thalassemia +1 more	GPathogenic
Select item 439167	NM_000518.5(HBB):c.93-2A>C	HBB, LOC106099062 +1 more	Single nucleotide variant (splice acceptor variant)	Hemoglobinopathy +1 more	GPathogenic
Select item 36341	NM_000518.5(HBB):c.93-3T>G	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Beta thalassemia intermedia +1 more	GPathogenic/Likely pathogenic
Select item 496008	NM_000518.5(HBB):c.93-6C>T	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 550356	NM_000518.5(HBB):c.93-15T>G	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 15454	NM_000518.5(HBB):c.93-21G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +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)	Inborn genetic diseases +12 more	GPathogenic/Likely pathogenic
Select item 15449	NM_000518.5(HBB):c.92+5G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +1 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)	beta Thalassemia +13 more	GPathogenic
Select item 38667	NM_000518.5(HBB):c.92+2T>A	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	beta Thalassemia +1 more	GPathogenic
Select item 36334	NM_000518.5(HBB):c.92+2T>C	LOC107133510, HBB +1 more	Single nucleotide variant (splice donor variant)	beta Thalassemia +10 more	GPathogenic
Select item 15437	NM_000518.5(HBB):c.92+1G>T	LOC106099062, LOC107133510 +1 more	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +12 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)	Hb SS disease +11 more	GPathogenic
Select item 36337	NM_000518.5(HBB):c.92G>A (p.Arg31Lys)	HBB, LOC106099062 +1 more (R31K)	Single nucleotide variant (missense variant)	beta Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 15234	NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	LOC106099062, HBB +1 more (R31T)	Single nucleotide variant (missense variant)	Hb SS disease +4 more	GPathogenic
Select item 38682	NM_000518.5(HBB):c.90C>T (p.Gly30=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 38650	NM_000518.5(HBB):c.79G>T (p.Glu27Ter)	HBB, LOC106099062 +1 more (E27*)	Single nucleotide variant (nonsense)	beta Thalassemia +2 more	GPathogenic
Select item 15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB, LOC106099062 +1 more (E27K)	Single nucleotide variant (missense variant)	not specified +15 more	GPathogenic
Select item 1083541	NM_000518.5(HBB):c.60C>T (p.Asn20=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 15258	NM_000518.5(HBB):c.59A>G (p.Asn20Ser)	HBB, LOC106099062 +1 more (N20S)	Single nucleotide variant (missense variant)	beta Thalassemia +2 more	GPathogenic
Select item 496000	NM_000518.5(HBB):c.56T>G (p.Val19Gly)	LOC107133510, HBB +1 more (V19G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 15401	NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	LOC106099062, LOC107133510 +1 more (K18*)	Single nucleotide variant (nonsense)	Hb SS disease +10 more	GPathogenic
Select item 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	HBB, LOC106099062 +1 more (K18fs)	Deletion (frameshift variant)	Inborn genetic diseases +13 more	GPathogenic
Select item 38646	NM_000518.5(HBB):c.48G>A (p.Trp16Ter)	LOC106099062, LOC107133510 +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)	Hb SS disease +3 more	GPathogenic
Select item 38647	NM_000518.5(HBB):c.46del (p.Trp16fs)	HBB, LOC106099062 +1 more (W16fs)	Deletion (frameshift variant)	beta Thalassemia +1 more	GPathogenic

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