"PreventionGenetics, part of Exact Sciences"[submitter] AND "HBA1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801169	NM_000558.5(HBA1):c.96-1G>A	HBA1, LOC106804613	Single nucleotide variant (splice acceptor variant)	alpha Thalassemia +6 more	GPathogenic/Likely pathogenic
Select item 15889	NM_000558.3(HBA1):c.154G>A (p.Gly52Ser)	LOC106804613, HBA1 (G52S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 811124	NM_000558.5(HBA1):c.198G>A (p.Ala66=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	HBA1-related disorder +1 more	GLikely benign
Select item 619842	NM_000558.5(HBA1):c.237del (p.Asn79fs)	LOC106804613, HBA1 (N79fs)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 788899	NM_000558.5(HBA1):c.250C>T (p.Leu84=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	HBA1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3029547	NM_000558.5(HBA1):c.319C>T (p.Leu107=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	HBA1-related disorder	GLikely benign
Select item 439101	NM_000558.5(HBA1):c.396T>C (p.Ser132=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3036580	NM_000558.5(HBA1):c.*1G>A	HBA1, LOC106804613	Single nucleotide variant (3 prime UTR variant)	HBA1-related disorder	GLikely benign

ClinVar