"Revvity Omics, Revvity"[submitter] AND "LOC110006319"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 242712	NM_000518.5(HBB):c.359G>A (p.Gly120Asp)	HBB, LOC107133510 +1 more (G120D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15451	NM_000518.5(HBB):c.316-3C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	HBB-related disorder +11 more	GPathogenic/Likely pathogenic
Select item 36313	NM_000518.5(HBB):c.316-14T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 15457	NM_000518.5(HBB):c.316-106C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +10 more	GPathogenic/Likely pathogenic
Select item 439149	NM_000518.5(HBB):c.316-125A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15458	NM_000518.5(HBB):c.316-197C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
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
Select item 2432366	NM_000518.5(HBB):c.306G>T (p.Glu102Asp)	HBB, LOC106099062 +2 more (E102D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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