"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC106804613"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801167	NM_000558.5(HBA1):c.94_95del (p.Arg32fs)	HBA1, LOC106804613 (R32fs)	Microsatellite (frameshift variant)	not provided +5 more	GPathogenic
Select item 801169	NM_000558.5(HBA1):c.96-1G>A	HBA1, LOC106804613	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 619842	NM_000558.5(HBA1):c.237del (p.Asn79fs)	HBA1, LOC106804613 (N79fs)	Deletion (frameshift variant)	HBA1-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 1331033	NM_000558.5(HBA1):c.328del (p.Leu110fs)	HBA1, LOC106804613 (L110fs)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 15800	NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)	HBA1, LOC106804613 (A111D)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely pathogenic
Select item 811900	NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	HBA1, LOC106804613 (P120S)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic

ClinVar