"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "HBB"[gene] - ClinVar

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Items: 21

	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)	Hb SS disease +3 more	GPathogenic
Select item 1705956	NM_000518.5(HBB):c.389_401del (p.Ala130fs)	LOC107133510, LOC110006319 +1 more (A130fs)	Deletion (frameshift variant)	not provided	GLikely 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 15526	NM_000518.5(HBB):c.347C>A (p.Ala116Asp)	HBB, LOC107133510 +1 more (A116D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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/Likely pathogenic
Select item 869266	NM_000518.5(HBB):c.209del (p.Gly70fs)	HBB, LOC106099062 +1 more (G70fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 15308	NM_000518.4(HBB):c.98T>C (p.Leu33Pro)	HBB, LOC106099062 +1 more (L33P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 15454	NM_000518.5(HBB):c.93-21G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +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)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 15447	NM_000518.5(HBB):c.92+5G>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +13 more	GPathogenic
Select item 15436	NM_000518.5(HBB):c.92+1G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	beta Thalassemia +11 more	GPathogenic
Select item 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	HBB, LOC106099062 +1 more (K18fs)	Deletion (frameshift variant)	HBB-related disorder +13 more	GPathogenic
Select item 439155	NM_000518.5(HBB):c.33C>A (p.Ala11=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 15418	NM_000518.5(HBB):c.20del (p.Glu7fs)	HBB, LOC106099062 +1 more (E7fs)	Deletion (frameshift variant)	beta Thalassemia +10 more	GPathogenic
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	HBB-related disorder +15 more	GPathogenic
Select item 15126	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	LOC106099062, LOC107133510 +1 more (E7K)	Single nucleotide variant (missense variant)	HBB-related disorder +15 more	GPathogenic/Likely pathogenic
Select item 15469	NC_000011.10:g.5227100T>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +11 more	GPathogenic
Select item 36281	NM_000518.5(HBB):c.-106G>C	LOC106099062, LOC107133510 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +3 more	GUncertain significance
Select item 1163520	NM_000518.4(HBB):c.-265G>A	LOC107133510, HBB +1 more	Single nucleotide variant	not provided	GUncertain significance

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Items: 21