"Ambry Genetics"[submitter] AND "LOC107133510"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982010	NC_000011.10:g.5225256_5225875delinsTCTACTT	HBB, LOC107133510 +1 more	Indel	Beta-thalassemia major +1 more	GPathogenic
Select item 36329	NM_000518.5(HBB):c.432C>T (p.His144=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 15202	NM_000518.4(HBB):c.410G>A (p.Gly137Asp)	HBB, LOC107133510 +1 more (G137D)	Single nucleotide variant (missense variant)	beta Thalassemia +4 more	GConflicting classifications of pathogenicity
Select item 762836	NM_000518.5(HBB):c.402G>A (p.Val134=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	Hereditary persistence of fetal hemoglobin +10 more	GLikely benign
Select item 36327	NM_000518.5(HBB):c.402G>C (p.Val134=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 439783	NM_000518.5(HBB):c.294C>T (p.His98=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 439144	NM_000518.5(HBB):c.274C>T (p.Leu92=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 15419	NM_000518.5(HBB):c.217dup (p.Ser73fs)	HBB, LOC106099062 +1 more (S73fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 439141	NM_000518.5(HBB):c.207C>T (p.Leu69=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 15256	NM_000518.5(HBB):c.190C>T (p.His64Tyr)	HBB, LOC106099062 +1 more (H64Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 439139	NM_000518.5(HBB):c.180G>A (p.Lys60=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 799058	NM_000518.5(HBB):c.165T>C (p.Val55=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1770789	NM_000518.5(HBB):c.135C>G (p.Ser45=)	LOC106099062, HBB +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 15417	NM_000518.5(HBB):c.126_129del (p.Phe42fs)	HBB, LOC106099062 +1 more (F42fs)	Deletion (frameshift variant)	beta Thalassemia +12 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)	alpha Thalassemia +11 more	GPathogenic
Select item 15442	NM_000518.5(HBB):c.93-22_95del	HBB, LOC106099062 +1 more	Deletion (splice acceptor variant)	not provided +4 more	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 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 15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB, LOC106099062 +1 more (E27K)	Single nucleotide variant (missense variant)	Hb SS disease +15 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 440467	NM_000518.5(HBB):c.45G>A (p.Leu15=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 439156	NM_000518.5(HBB):c.33C>T (p.Ala11=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
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 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 193106	NM_000518.5(HBB):c.9T>C (p.His3=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +14 more	GBenign
Select item 15469	NC_000011.10:g.5227100T>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +11 more	GPathogenic
Select item 15460	NC_000011.10:g.5227159G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +3 more	GPathogenic/Likely pathogenic

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Items: 30