ClinVar for MedGen (Select 21121) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2775429	NM_000519.4(HBD):c.332T>C (p.Leu111Pro)	HBD (L111P)	Single nucleotide variant (missense variant)	Thalassemia	GUncertain significance
Select item 2775422	NM_000517.6(HBA2):c.*108G>A	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	Thalassemia	GUncertain significance
Select item 2775409	NM_000558.5(HBA1):c.*79C>A	HBA1, LOC106804613	Single nucleotide variant (3 prime UTR variant)	Thalassemia	GUncertain significance
Select item 2775407	NM_000517.4(HBA2):c.-157C>T	HBA2, LOC106804612	Single nucleotide variant	Thalassemia	GUncertain significance
Select item 2775404	NM_000518.4(HBB):c.-122T>C	LOC106099062, LOC107133510 +1 more	Single nucleotide variant	Thalassemia	GUncertain significance
Select item 1217302	NC_000011.10:g.5225284C>T	LOC107133510, LOC110006319	Single nucleotide variant	Thalassemia	Grisk factor

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