ClinVar for MedGen (Select 468531) - ClinVar - NCBI

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Items: 15

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13310331.	NM_000558.5(HBA1):c.328del (p.Leu110fs) GRCh37: Chr16:227307 GRCh38: Chr16:177308	HBA1, LOC106804613	L110fs	not provided, Erythrocytosis, familial, 7, Heinz body anemia, alpha Thalassemia, Hemoglobin H disease, Methemoglobinemia, alpha type, alpha Thalassemia	Pathogenic/Likely pathogenic (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9931082.	NM_000517.6(HBA2):c.358C>G (p.Pro120Ala) GRCh37: Chr16:223528 GRCh38: Chr16:173529	HBA2, LOC106804612	P120A	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 8276603.	NM_000517.4(HBA2):c.-59C>T GRCh37: Chr16:222853 GRCh38: Chr16:172854	HBA2, LOC106804612		alpha Thalassemia, Heinz body anemia, Hemoglobin H disease, Erythrocytosis, familial, 7, not provided	Uncertain significance (Jan 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8119004.	NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) GRCh37: Chr16:227339 GRCh38: Chr16:177340	HBA1, LOC106804613	P120S	Methemoglobinemia, alpha type, Erythrocytosis, familial, 7, Heinz body anemia, alpha Thalassemia, Hemoglobin H disease, not specified, not provided, alpha Thalassemia	Pathogenic (Nov 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8011695.	NM_000558.5(HBA1):c.96-1G>A GRCh37: Chr16:226927 GRCh38: Chr16:176928	HBA1, LOC106804613		not provided, Hemoglobin H disease, Methemoglobinemia, alpha type, Erythrocytosis, familial, 7, Heinz body anemia, alpha Thalassemia, alpha Thalassemia	Pathogenic/Likely pathogenic (Jul 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8011676.	NM_000558.5(HBA1):c.94_95del (p.Arg32fs) GRCh37: Chr16:226806-226807 GRCh38: Chr16:176807-176808	HBA1, LOC106804613	R32fs	alpha Thalassemia, Methemoglobinemia, alpha type, Erythrocytosis, familial, 7, Heinz body anemia, Hemoglobin H disease, not provided	Pathogenic (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6198427.	NM_000558.5(HBA1):c.237del (p.Asn79fs) GRCh37: Chr16:227069 GRCh38: Chr16:177070	HBA1, LOC106804613	N79fs	HBA1-related condition, Hemoglobin H disease, Heinz body anemia, alpha Thalassemia, Methemoglobinemia, alpha type, Erythrocytosis, familial, 7, not provided	Pathogenic/Likely pathogenic (Jul 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4397718.	NM_000517.6(HBA2):c.369C>G (p.His123Gln) GRCh37: Chr16:223539 GRCh38: Chr16:173540	HBA1, HBA2, LOC106804612	H123Q	Erythrocytosis, familial, 7, Hemoglobin H disease, Erythrocytosis, familial, 7, alpha Thalassemia, Heinz body anemia, not provided, Heinz body anemia, alpha Thalassemia, Hemoglobin H disease	Uncertain significance (Nov 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3757499.	NM_000517.6(HBA2):c.*94A>G GRCh37: Chr16:223693 GRCh38: Chr16:173694	HBA2, LOC106804612		Heinz body anemia, alpha Thalassemia, Hemoglobin H disease, Erythrocytosis, familial, 7, not provided	Pathogenic (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37574610.	NM_000517.6(HBA2):c.95+2_95+6del GRCh37: Chr16:223004-223008 GRCh38: Chr16:173005-173009	HBA2, LOC106804612		Heinz body anemia, alpha Thalassemia, Hemoglobin H disease, Erythrocytosis, familial, 7, alpha Thalassemia, not provided	Pathogenic (Nov 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1580011.	NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) GRCh37: Chr16:227313 GRCh38: Chr16:177314	HBA1, LOC106804613	A111D	Hemoglobin H disease, alpha Thalassemia, Methemoglobinemia, alpha type, Erythrocytosis, familial, 7, Heinz body anemia, not provided	Likely pathogenic (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1567912.	NM_000517.6(HBA2):c.96-2A>G GRCh37: Chr16:223122 GRCh38: Chr16:173123	HBA2, LOC106804612		Hemoglobin H disease, alpha Thalassemia, Erythrocytosis, familial, 7, Heinz body anemia, not provided	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1566813.	NM_000517.6(HBA2):c.301-1G>A GRCh37: Chr16:223470 GRCh38: Chr16:173471	HBA2, LOC106804612		Erythrocytosis, familial, 7, alpha Thalassemia, Hemoglobin H disease, Heinz body anemia	Likely pathogenic (Nov 12, 2021)	criteria provided, single submitter
Select item 1564714.	NM_000517.6(HBA2):c.*92A>G GRCh37: Chr16:223691 GRCh38: Chr16:173692	LOC106804612, HBA2		Hemoglobin H disease, alpha Thalassemia, Erythrocytosis, familial, 7, Heinz body anemia, not provided	Pathogenic (Jun 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1563015.	NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) GRCh37: Chr16:223547 GRCh38: Chr16:173548	HBA2, LOC106804612	L126P	Hemoglobin H disease, alpha Thalassemia, Erythrocytosis, familial, 7, Heinz body anemia, not provided	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts