CN239378[trait identifier] AND "PreventionGenetics, part of Exact Scie - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36331	NM_000518.5(HBB):c.*96T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	HBB-related disorder +2 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)	HBB-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 15451	NM_000518.5(HBB):c.316-3C>A	LOC107133510, LOC110006319 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic/Likely pathogenic
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 15458	NM_000518.5(HBB):c.316-197C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +4 more	GPathogenic
Select item 981074	NM_000518.5(HBB):c.316-198G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	HBB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 439141	NM_000518.5(HBB):c.207C>T (p.Leu69=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 2632585	NM_000518.5(HBB):c.181G>T (p.Val61Leu)	HBB, LOC106099062 +1 more (V61L)	Single nucleotide variant (missense variant)	HBB-related disorder	GUncertain significance
Select item 15417	NM_000518.5(HBB):c.126_129del (p.Phe42fs)	HBB, LOC106099062 +1 more (F42fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +13 more	GPathogenic/Likely pathogenic
Select item 15402	NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	HBB, LOC106099062 +1 more (Q40*)	Single nucleotide variant (nonsense)	Beta-thalassemia HBB/LCRB +12 more	GPathogenic
Select item 36340	NM_000518.5(HBB):c.93-23T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +3 more	GConflicting classifications of pathogenicity
Select item 15450	NM_000518.5(HBB):c.92+6T>C	LOC107133510, HBB +1 more	Single nucleotide variant (intron variant)	Hb SS disease +12 more	GConflicting classifications of pathogenicity
Select item 15437	NM_000518.5(HBB):c.92+1G>T	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	Beta-thalassemia HBB/LCRB +12 more	GPathogenic/Likely pathogenic
Select item 15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB, LOC106099062 +1 more (E27K)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +15 more	GPathogenic
Select item 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	HBB, LOC106099062 +1 more (K18fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +13 more	GPathogenic
Select item 439155	NM_000518.5(HBB):c.33C>A (p.Ala11=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 36308	NM_000518.5(HBB):c.27dup (p.Ser10fs)	HBB, LOC106099062 +1 more (S10fs)	Duplication (frameshift variant)	Beta-thalassemia HBB/LCRB +11 more	GConflicting classifications of pathogenicity
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +15 more	GPathogenic
Select item 15126	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	HBB, LOC106099062 +1 more (E7K)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +15 more	GPathogenic
Select item 15422	NM_000518.5(HBB):c.17_18del (p.Pro6fs)	HBB, LOC106099062 +1 more (P6fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 3051702	NC_000011.10:g.5227091C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	HBB-related disorder	GLikely benign
Select item 36294	NM_000518.5(HBB):c.-75G>C	HBB, LOC106099062 +1 more	Single nucleotide variant	HBB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1330141	NM_000518.4(HBB):c.-104G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15461	NM_000518.5(HBB):c.-151C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +11 more	GConflicting classifications of pathogenicity

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Items: 24