"3billion"[submitter] AND "LOC106099062"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687315	NM_000518.5(HBB):c.269del (p.Ser90fs)	HBB, LOC106099062 +1 more (S90fs)	Deletion (frameshift variant)	beta Thalassemia	GLikely pathogenic
Select item 869338	NM_000518.5(HBB):c.138del (p.Phe46fs)	HBB, LOC106099062 +1 more (F46fs)	Deletion (frameshift variant)	Dominant beta-thalassemia +1 more	GPathogenic
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 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 36308	NM_000518.5(HBB):c.27dup (p.Ser10fs)	LOC106099062, LOC107133510 +1 more (S10fs)	Duplication (frameshift variant)	beta Thalassemia +11 more	GPathogenic
Select item 15413	NM_000518.5(HBB):c.25_26del (p.Lys9fs)	HBB, LOC106099062 +1 more (K9fs)	Deletion (frameshift variant)	not provided +4 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