ClinVar for PubMed (Select 22392582) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256345	NM_000518.5(HBB):c.315+16G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +2 more	GBenign/Likely benign
Select item 36292	NM_000518.5(HBB):c.-50A>C	HBB, LOC106099062 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GPathogenic
Select item 15525	NM_000518.5(HBB):c.315G>C (p.Arg105Ser)	HBB, LOC106099062 +2 more (R105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15514	NM_000518.5(HBB):c.-140C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +3 more	GPathogenic/Likely pathogenic
Select item 15449	NM_000518.5(HBB):c.92+5G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 15447	NM_000518.5(HBB):c.92+5G>C	LOC106099062, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases +13 more	GPathogenic
Select item 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	LOC106099062, LOC107133510 +1 more (K18fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +13 more	GPathogenic

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