C0002312[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 15688	NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)	HBA2, LOC106804612 (G60R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 15656	NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)	HBA2, LOC106804612 (C105Y)	Single nucleotide variant (missense variant)	Hemoglobin H disease +2 more	GPathogenic/Likely pathogenic
Select item 15626	NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	HBA2, LOC106804612	Single nucleotide variant (stop lost)	not provided +2 more	GPathogenic
Select item 1331033	NM_000558.5(HBA1):c.328del (p.Leu110fs)	HBA1, LOC106804613 (L110fs)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic