ClinVar for MedGen (Select 468531) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1331033	NM_000558.5(HBA1):c.328del (p.Leu110fs)	HBA1, LOC106804613 (L110fs)	Deletion (frameshift variant)	alpha Thalassemia +5 more	GPathogenic/Likely pathogenic
Select item 993108	NM_000517.6(HBA2):c.358C>G (p.Pro120Ala)	HBA2, LOC106804612 (P120A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 827660	NM_000517.6(HBA2):c.-59C>T	HBA2, LOC106804612	Single nucleotide variant	not provided +4 more	GUncertain significance
Select item 811900	NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	HBA1, LOC106804613 (P120S)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 801169	NM_000558.5(HBA1):c.96-1G>A	LOC106804613, HBA1	Single nucleotide variant (splice acceptor variant)	Heinz body anemia +5 more	GPathogenic/Likely pathogenic
Select item 801167	NM_000558.5(HBA1):c.94_95del (p.Arg32fs)	HBA1, LOC106804613 (R32fs)	Microsatellite (frameshift variant)	not provided +5 more	GPathogenic
Select item 619842	NM_000558.5(HBA1):c.237del (p.Asn79fs)	HBA1, LOC106804613 (N79fs)	Deletion (frameshift variant)	HBA1-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 439771	NM_000517.6(HBA2):c.369C>G (p.His123Gln)	HBA2, LOC106804612 +1 more (H123Q)	Single nucleotide variant (missense variant)	alpha Thalassemia +4 more	GUncertain significance
Select item 375749	NM_000517.6(HBA2):c.*94A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GPathogenic
Select item 375746	NM_000517.6(HBA2):c.95+2_95+6del	HBA2, LOC106804612	Deletion (splice donor variant)	alpha Thalassemia +4 more	GPathogenic
Select item 15800	NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)	HBA1, LOC106804613 (A111D)	Single nucleotide variant (missense variant)	Methemoglobinemia, alpha type +5 more	GLikely pathogenic
Select item 15679	NM_000517.6(HBA2):c.96-2A>G	HBA2, LOC106804612	Single nucleotide variant (splice acceptor variant)	Erythrocytosis, familial, 7 +4 more	GPathogenic
Select item 15668	NM_000517.6(HBA2):c.301-1G>A	HBA2, LOC106804612	Single nucleotide variant (splice acceptor variant)	Heinz body anemia +3 more	GLikely pathogenic
Select item 15656	NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)	HBA2, LOC106804612 (C105Y)	Single nucleotide variant (missense variant)	alpha Thalassemia +2 more	GPathogenic/Likely pathogenic
Select item 15647	NM_000517.6(HBA2):c.*92A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 7 +5 more	GPathogenic/Likely pathogenic
Select item 15630	NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	HBA2, LOC106804612 (L126P)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 7 +4 more	GPathogenic