"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC106804612"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827660	NM_000517.6(HBA2):c.-59C>T	HBA2, LOC106804612	Single nucleotide variant	not provided +4 more	GUncertain significance
Select item 375746	NM_000517.6(HBA2):c.95+2_95+6del	HBA2, LOC106804612	Deletion (splice donor variant)	Erythrocytosis, familial, 7 +4 more	GPathogenic
Select item 15679	NM_000517.6(HBA2):c.96-2A>G	HBA2, LOC106804612	Single nucleotide variant (splice acceptor variant)	alpha Thalassemia +4 more	GPathogenic
Select item 15668	NM_000517.6(HBA2):c.301-1G>A	HBA2, LOC106804612	Single nucleotide variant (splice acceptor variant)	Heinz body anemia +3 more	GLikely pathogenic
Select item 439771	NM_000517.6(HBA2):c.369C>G (p.His123Gln)	HBA1, HBA2 +1 more (H123Q)	Single nucleotide variant (missense variant)	Hemoglobin H disease +4 more	GUncertain significance
Select item 15630	NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	HBA2, LOC106804612 (L126P)	Single nucleotide variant (missense variant)	alpha Thalassemia +4 more	GPathogenic
Select item 15647	NM_000517.6(HBA2):c.*92A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 375749	NM_000517.6(HBA2):c.*94A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 7 +5 more	GPathogenic

ClinVar