"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC106099 - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256344	NM_000518.5(HBB):c.288G>A (p.Lys96=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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)	Inborn genetic diseases +12 more	GPathogenic
Select item 256348	NM_000518.5(HBB):c.93-15T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 36340	NM_000518.5(HBB):c.93-23T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +3 more	GConflicting classifications of pathogenicity
Select item 15450	NM_000518.5(HBB):c.92+6T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +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)	not provided +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)	LOC106099062, LOC107133510 +1 more (S10fs)	Duplication (frameshift variant)	not provided +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)	Sickle cell-hemoglobin C disease +15 more	GPathogenic
Select item 15422	NM_000518.5(HBB):c.17_18del (p.Pro6fs)	HBB, LOC106099062 +1 more (P6fs)	Deletion (frameshift variant)	Hb SS disease +11 more	GPathogenic
Select item 193106	NM_000518.5(HBB):c.9T>C (p.His3=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not specified +14 more	GBenign
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	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1330141	NM_000518.4(HBB):c.-104G>A	LOC107133510, 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	Malaria, susceptibility to +11 more	GConflicting classifications of pathogenicity

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Items: 21