"Natera, Inc."[submitter] AND "LOC110006319"[gene] - ClinVar

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Items: 29

	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)	not provided +2 more	GPathogenic
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 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)	not provided +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)	not provided +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)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic/Likely pathogenic
Select item 15152	NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	LOC110006319, LOC107133510 +1 more (E122Q)	Single nucleotide variant (missense variant)	Hemoglobin D 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)	not provided +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)	not provided +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 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)	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)	Beta-thalassemia HBB/LCRB +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)	beta Thalassemia +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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 15457	NM_000518.5(HBB):c.316-106C>G	LOC107133510, LOC110006319 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic
Select item 439149	NM_000518.5(HBB):c.316-125A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +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 condition +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)	beta Thalassemia +1 more	GBenign
Select item 439776	NM_000518.5(HBB):c.315+26T>G	LOC110006319, HBB +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)	beta Thalassemia +2 more	GBenign/Likely benign
Select item 15438	NM_000518.5(HBB):c.315+1G>A	LOC106099062, LOC107133510 +2 more	Single nucleotide variant (splice donor variant)	Beta-thalassemia HBB/LCRB +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

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Items: 29