C0005283[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549922	NM_000518.5(HBB):c.*132+34C>A	HBB, LOC107133510 +1 more	Single nucleotide variant	beta Thalassemia	GLikely benign
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 +3 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 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 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 552712	NM_000518.5(HBB):c.316-1G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely 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 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 189128	NM_000518.5(HBB):c.315+1G>C	HBB, LOC106099062 +2 more	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 36306	NM_000518.5(HBB):c.251del (p.Gly84fs)	HBB, LOC106099062 +1 more (G84fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
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 36303	NM_000518.5(HBB):c.203_204del (p.Val68fs)	HBB, LOC106099062 +1 more (V68fs)	Deletion (frameshift variant)	METHEMOGLOBINEMIA, BETA TYPE +10 more	GPathogenic
Select item 555215	NM_000518.5(HBB):c.147del (p.Ser50fs)	HBB, LOC106099062 +1 more (S50fs)	Deletion (frameshift variant)	beta Thalassemia	GLikely pathogenic
Select item 15415	NM_000518.5(HBB):c.135del (p.Phe46fs)	HBB, LOC106099062 +1 more (F46fs)	Deletion (frameshift variant)	beta Thalassemia +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 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 550356	NM_000518.5(HBB):c.93-15T>G	LOC106099062, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +1 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 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 15437	NM_000518.5(HBB):c.92+1G>T	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	not provided +11 more	GPathogenic/Likely pathogenic
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)	HBB, LOC106099062 +1 more (R31T)	Single nucleotide variant (missense variant)	beta Thalassemia +4 more	GPathogenic
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)	Hemoglobinopathy +2 more	GPathogenic
Select item 551389	NM_000518.5(HBB):c.64dup (p.Asp22fs)	HBB, LOC106099062 +1 more (D22fs)	Duplication (frameshift variant)	beta Thalassemia	GLikely pathogenic
Select item 38647	NM_000518.5(HBB):c.46del (p.Trp16fs)	HBB, LOC106099062 +1 more (W16fs)	Deletion (frameshift variant)	beta Thalassemia +1 more	GPathogenic
Select item 15422	NM_000518.5(HBB):c.17_18del (p.Pro6fs)	HBB, LOC106099062 +1 more (P6fs)	Deletion (frameshift variant)	beta Thalassemia +10 more	GPathogenic
Select item 36310	NM_000518.5(HBB):c.2T>C (p.Met1Thr)	HBB, LOC106099062 +1 more (M1T)	Single nucleotide variant (missense variant +1 more)	Beta-thalassemia HBB/LCRB +2 more	GPathogenic/Likely pathogenic
Select item 15434	NM_000518.5(HBB):c.2T>G (p.Met1Arg)	HBB, LOC106099062 +1 more (M1R)	Single nucleotide variant (missense variant +1 more)	Hb SS disease +2 more	GPathogenic
Select item 36292	NM_000518.5(HBB):c.-50A>C	HBB, LOC106099062 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GPathogenic
Select item 36294	NM_000518.5(HBB):c.-75G>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15470	NM_000518.5(HBB):c.-78A>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +10 more	GPathogenic
Select item 36285	NM_000518.5(HBB):c.-137C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +12 more	GPathogenic/Likely pathogenic
Select item 393701	NM_000518.5(HBB):c.-138C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +10 more	GPathogenic/Likely pathogenic
Select item 15514	NM_000518.5(HBB):c.-140C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	HBB-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 15461	NC_000011.10:g.5227172G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +10 more	GPathogenic

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Items: 41