C0002312[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 15438	NM_000518.5(HBB):c.315+1G>A	HBB, LOC106099062 +2 more	Single nucleotide variant (splice donor variant)	not specified +11 more	GPathogenic
Select item 15454	NM_000518.5(HBB):c.93-21G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Fetal hemoglobin quantitative trait locus 1 +12 more	GPathogenic/Likely pathogenic
Select item 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	HBB, LOC106099062 +1 more (K18fs)	Deletion (frameshift variant)	Inborn genetic diseases +13 more	GPathogenic
Select item 36308	NM_000518.5(HBB):c.27dup (p.Ser10fs)	HBB, LOC106099062 +1 more (S10fs)	Duplication (frameshift variant)	Hb SS disease +11 more	GConflicting classifications of pathogenicity
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +15 more	GPathogenic
Select item 1048833	NM_000558.5(HBA1):c.95+2_95+6del	HBA1, LOC106804613	Deletion (splice donor variant)	alpha Thalassemia	GLikely pathogenic

ClinVar