"Genome-Nilou Lab"[submitter] AND "LOC110006319"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 15584	NM_000518.4(HBB):c.371C>A (p.Thr124Asn)	HBB, LOC107133510 +1 more (T124N)	Single nucleotide variant (missense variant)	beta Thalassemia +10 more	GUncertain significance
Select item 15152	NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	HBB, LOC107133510 +1 more (E122Q)	Single nucleotide variant (missense variant)	HBB-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 439774	NM_000518.5(HBB):c.315+81C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 439775	NM_000518.5(HBB):c.315+74T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +1 more	GBenign
Select item 256345	NM_000518.5(HBB):c.315+16G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 15438	NM_000518.5(HBB):c.315+1G>A	HBB, LOC106099062 +2 more	Single nucleotide variant (splice donor variant)	Dominant beta-thalassemia +11 more	GPathogenic

ClinVar