"Ambry Genetics"[submitter] AND "LOC106099062"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439783	NM_000518.5(HBB):c.294C>T (p.His98=)	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)	LOC107133510, HBB +1 more (S73fs)	Duplication (frameshift variant)	not provided +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 +3 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)	Inborn genetic diseases +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)	not provided +2 more	GLikely benign
Select item 1770789	NM_000518.5(HBB):c.135C>G (p.Ser45=)	HBB, LOC106099062 +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 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)	not provided +12 more	GPathogenic
Select item 15442	NM_000518.5(HBB):c.93-22_95del	HBB, LOC106099062 +1 more	Deletion (splice acceptor variant)	Beta-thalassemia HBB/LCRB +4 more	GPathogenic
Select item 15454	NM_000518.5(HBB):c.93-21G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases +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)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 15447	NM_000518.5(HBB):c.92+5G>C	LOC106099062, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases +13 more	GPathogenic
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)	Inborn genetic diseases +15 more	GPathogenic
Select item 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	LOC106099062, LOC107133510 +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=)	LOC106099062, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	HBB-related condition +2 more	GConflicting classifications of pathogenicity
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	LOC106099062, LOC107133510 +1 more (E7V)	Single nucleotide variant (missense variant)	not provided +16 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 condition +16 more	GPathogenic
Select item 193106	NM_000518.5(HBB):c.9T>C (p.His3=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +14 more	GBenign
Select item 15469	NM_000518.5(HBB):c.-79A>G	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15460	NM_000518.5(HBB):c.-138C>T	LOC107133510, HBB +1 more	Single nucleotide variant	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic

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Items: 22