ClinVar for MedGen (Select 1642594) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502312	NM_000558.5(HBA1):c.300+1G>A	HBA1, LOC106804613	Single nucleotide variant (splice donor variant)	Erythrocytosis, familial, 7	GLikely pathogenic
Select item 1331033	NM_000558.5(HBA1):c.328del (p.Leu110fs)	HBA1, LOC106804613 (L110fs)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
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 811820	NM_000558.5(HBA1):c.45G>A (p.Trp15Ter)	HBA1, LOC106804613 (W15*)	Single nucleotide variant (nonsense)	Erythrocytosis, familial, 7 +1 more	GPathogenic
Select item 801169	NM_000558.5(HBA1):c.96-1G>A	HBA1, LOC106804613	Single nucleotide variant (splice acceptor variant)	not provided +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)	LOC106804612, HBA1 +1 more (H123Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 439108	NM_000517.6(HBA2):c.*107A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	alpha Thalassemia +3 more	GBenign
Select item 375749	NM_000517.6(HBA2):c.*94A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 7 +5 more	GPathogenic
Select item 375746	NM_000517.6(HBA2):c.95+2_95+6del	HBA2, LOC106804612	Deletion (splice donor variant)	Erythrocytosis, familial, 7 +4 more	GPathogenic
Select item 15856	NM_000558.5(HBA1):c.421T>C (p.Tyr141His)	HBA1, LOC106804613 (Y141H)	Single nucleotide variant (missense variant)	HEMOGLOBIN ROUEN +2 more	GPathogenic; other
Select item 15844	NC_000016.10:g.173151A>T	HBA1, HBA2 +1 more (K41M)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 7 +1 more	GPathogenic; other
Select item 15822	NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)	HBA1, LOC106804613 (D7G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15821	NM_000558.3(HBA1):c.425G>A (p.Arg142His)	HBA1, LOC106804613 (R142H)	Single nucleotide variant (missense variant)	HEMOGLOBIN SURESNES +1 more	GPathogenic; other
Select item 15807	NM_000558.5(HBA1):c.379G>C (p.Asp127His)	HBA1, LOC106804613 (D127H)	Single nucleotide variant (missense variant)	HEMOGLOBIN SASSARI +1 more	GPathogenic; other
Select item 15800	NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)	HBA1, LOC106804613 (A111D)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely pathogenic
Select item 15792	NM_000558.3(HBA1):c.424C>T (p.Arg142Cys)	HBA1, LOC106804613 (R142C)	Single nucleotide variant (missense variant)	HEMOGLOBIN NUNOBIKI +1 more	GPathogenic; other
Select item 15783	NM_000558.3(HBA1):c.134C>T (p.Pro45Leu)	HBA1, LOC106804613 (P45L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 15776	NM_000558.5(HBA1):c.265G>T (p.Ala89Ser)	HBA1, LOC106804613 (A89S)	Single nucleotide variant (missense variant)	HEMOGLOBIN LOIRE +1 more	GPathogenic; other
Select item 15773	NM_000558.3(HBA1):c.425G>T (p.Arg142Leu)	HBA1, LOC106804613 (R142L)	Single nucleotide variant (missense variant)	HEMOGLOBIN LEGNANO +1 more	GPathogenic; other
Select item 15752	NM_000558.3(HBA1):c.278G>A (p.Arg93Gln)	HBA1, LOC106804613 (R93Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN J (CAPE TOWN) +1 more	GPathogenic; other
Select item 15711	NM_000558.3(HBA1):c.278G>T (p.Arg93Leu)	HBA1, LOC106804613 (R93L)	Single nucleotide variant (missense variant)	HEMOGLOBIN CHESAPEAKE +1 more	GPathogenic; other
Select item 15679	NM_000517.6(HBA2):c.96-2A>G	HBA2, LOC106804612	Single nucleotide variant (splice acceptor variant)	alpha Thalassemia +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 15647	NM_000517.6(HBA2):c.*92A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 15646	NM_000517.6(HBA2):c.418A>G (p.Lys140Glu)	HBA2, LOC106804612 (K140E)	Single nucleotide variant (missense variant)	HEMOGLOBIN HANAMAKI +1 more	GPathogenic; other
Select item 15639	NM_000517.6(HBA2):c.257A>T (p.Asp86Val)	HBA2, LOC106804612 (D86V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 15633	NM_000517.6(HBA2):c.186G>C (p.Lys62Asn)	HBA2, LOC106804612 (K62N)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 7 +1 more	GPathogenic; other
Select item 15630	NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	HBA2, LOC106804612 (L126P)	Single nucleotide variant (missense variant)	alpha Thalassemia +4 more	GPathogenic
Select item 15628	NM_000517.6(HBA2):c.266C>T (p.Ala89Val)	HBA2, LOC106804612 (A89V)	Single nucleotide variant (missense variant)	HEMOGLOBIN COLUMBIA MISSOURI +1 more	GPathogenic; other

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Items: 32