C0002312[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1343492	NM_000518.5(HBB):c.*132C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Malaria, susceptibility to +10 more	GUncertain significance
Select item 495969	NM_000518.5(HBB):c.*62A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified +10 more	GUncertain significance
Select item 762836	NM_000518.5(HBB):c.402G>A (p.Val134=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided +10 more	GLikely benign
Select item 15584	NM_000518.4(HBB):c.371C>A (p.Thr124Asn)	HBB, LOC107133510 +1 more (T124N)	Single nucleotide variant (missense variant)	Methemoglobinemia, beta-globin type +10 more	GUncertain significance
Select item 15292	NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	HBB, LOC107133510 +1 more (E122K)	Single nucleotide variant (missense variant)	beta Thalassemia +11 more	GPathogenic/Likely pathogenic
Select item 21191	NM_000518.5(HBB):c.316-2A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	not provided +10 more	GPathogenic
Select item 1330020	NM_000518.5(HBB):c.316-3C>T	LOC110006319, HBB +1 more	Single nucleotide variant (intron variant)	Malaria, susceptibility to +9 more	GUncertain significance
Select item 15451	NM_000518.5(HBB):c.316-3C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 15457	NM_000518.5(HBB):c.316-106C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +10 more	GPathogenic
Select item 15438	NM_000518.5(HBB):c.315+1G>A	LOC110006319, HBB +2 more	Single nucleotide variant (splice donor variant)	not provided +11 more	GPathogenic
Select item 15489	NM_000518.5(HBB):c.262A>C (p.Thr88Pro)	HBB, LOC106099062 +1 more (T88P)	Single nucleotide variant (missense variant)	not specified +10 more	GBenign/Likely benign
Select item 15138	NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	LOC107133510, HBB +1 more (G70S)	Single nucleotide variant (missense variant)	Methemoglobinemia, beta-globin type +11 more	GConflicting classifications of pathogenicity
Select item 15613	NM_000518.5(HBB):c.205C>T (p.Leu69Phe)	HBB, LOC106099062 +1 more (L69F)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 36303	NM_000518.5(HBB):c.203_204del (p.Val68fs)	HBB, LOC106099062 +1 more (V68fs)	Deletion (frameshift variant)	alpha Thalassemia +10 more	GPathogenic
Select item 15407	NM_000518.5(HBB):c.184A>T (p.Lys62Ter)	HBB, LOC106099062 +1 more (K62*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic
Select item 619854	NM_000518.5(HBB):c.169G>A (p.Gly57Ser)	HBB, LOC106099062 +1 more (G57S)	Single nucleotide variant (missense variant)	Methemoglobinemia, beta-globin type +10 more	GUncertain significance
Select item 15415	NM_000518.5(HBB):c.135del (p.Phe46fs)	HBB, LOC106099062 +1 more (F46fs)	Deletion (frameshift variant)	Dominant beta-thalassemia +10 more	GPathogenic/Likely pathogenic
Select item 15417	NM_000518.5(HBB):c.126_129del (p.Phe42fs)	HBB, LOC106099062 +1 more (F42fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +13 more	GPathogenic/Likely pathogenic
Select item 439134	NM_000518.5(HBB):c.123G>T (p.Arg41Ser)	HBB, LOC106099062 +1 more (R41S)	Single nucleotide variant (missense variant)	Heinz body anemia +9 more	GUncertain significance
Select item 15402	NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	HBB, LOC106099062 +1 more (Q40*)	Single nucleotide variant (nonsense)	not provided +12 more	GPathogenic
Select item 15431	NM_000518.5(HBB):c.112del (p.Trp38fs)	HBB, LOC106099062 +1 more (W38fs)	Deletion (frameshift variant)	Hemoglobinopathy +11 more	GPathogenic
Select item 15454	NM_000518.5(HBB):c.93-21G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +12 more	GPathogenic/Likely pathogenic
Select item 15450	NM_000518.5(HBB):c.92+6T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	HBB-related condition +12 more	GConflicting classifications of pathogenicity
Select item 15447	NM_000518.5(HBB):c.92+5G>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +13 more	GPathogenic
Select item 36334	NM_000518.5(HBB):c.92+2T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	beta Thalassemia +10 more	GPathogenic
Select item 15437	NM_000518.5(HBB):c.92+1G>T	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 15436	NM_000518.5(HBB):c.92+1G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB, LOC106099062 +1 more (E27K)	Single nucleotide variant (missense variant)	HBB-related condition +15 more	GPathogenic
Select item 15459	NM_000518.5(HBB):c.75T>A (p.Gly25=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Hb SS disease +10 more	GPathogenic/Likely pathogenic
Select item 15149	NM_000518.4(HBB):c.68A>T (p.Glu23Val)	HBB, LOC106099062 +1 more (E23V)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 15300	NM_000518.5(HBB):c.61G>A (p.Val21Met)	HBB, LOC106099062 +1 more (V21M)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic
Select item 15401	NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	HBB, LOC106099062 +1 more (K18*)	Single nucleotide variant (nonsense)	beta Thalassemia +10 more	GPathogenic
Select item 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	HBB, LOC106099062 +1 more (K18fs)	Deletion (frameshift variant)	Hemoglobinopathy +13 more	GPathogenic
Select item 15341	NM_000518.4(HBB):c.44T>C (p.Leu15Pro)	HBB, LOC106099062 +1 more (L15P)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 15189	NM_000518.4(HBB):c.34G>A (p.Val12Ile)	HBB, LOC106099062 +1 more (V12I)	Single nucleotide variant (missense variant)	not specified +13 more	GUncertain significance
Select item 36308	NM_000518.5(HBB):c.27dup (p.Ser10fs)	HBB, LOC106099062 +1 more (S10fs)	Duplication (frameshift variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 15418	NM_000518.5(HBB):c.20del (p.Glu7fs)	HBB, LOC106099062 +1 more (E7fs)	Deletion (frameshift variant)	not provided +10 more	GPathogenic
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	not provided +16 more	GPathogenic
Select item 15126	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	HBB, LOC106099062 +1 more (E7K)	Single nucleotide variant (missense variant)	not provided +16 more	GPathogenic
Select item 15422	NM_000518.5(HBB):c.17_18del (p.Pro6fs)	HBB, LOC106099062 +1 more (P6fs)	Deletion (frameshift variant)	not provided +11 more	GPathogenic
Select item 193106	NM_000518.5(HBB):c.9T>C (p.His3=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +14 more	GBenign
Select item 15470	NM_000518.5(HBB):c.-78A>C	HBB, LOC106099062 +1 more	Single nucleotide variant	Hb SS disease +10 more	GPathogenic
Select item 15469	NM_000518.5(HBB):c.-79A>G	HBB, LOC106099062 +1 more	Single nucleotide variant	Heinz body anemia +11 more	GPathogenic
Select item 495972	NM_000518.5(HBB):c.-100G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	Dominant beta-thalassemia +10 more	GUncertain significance
Select item 36285	NM_000518.5(HBB):c.-137C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +12 more	GPathogenic/Likely pathogenic
Select item 15464	NM_000518.5(HBB):c.-137C>G	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +11 more	GPathogenic/Likely pathogenic
Select item 393701	NM_000518.5(HBB):c.-138C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +11 more	GConflicting classifications of pathogenicity
Select item 15461	NM_000518.5(HBB):c.-151C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +11 more	GConflicting classifications of pathogenicity
Select item 695336	NM_000518.5(HBB):c.-273T>C	HBB, LOC106099062 +1 more	Single nucleotide variant	Dominant beta-thalassemia +9 more	GBenign/Likely benign
Select item 827660	NM_000517.4(HBA2):c.-59C>T	HBA2, LOC106804612	Single nucleotide variant	Hemoglobin H disease +4 more	GUncertain significance
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 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)	Erythrocytosis, familial, 7 +3 more	GLikely pathogenic
Select item 439771	NM_000517.6(HBA2):c.369C>G (p.His123Gln)	HBA1, HBA2 +1 more (H123Q)	Single nucleotide variant (missense variant)	Hemoglobin H disease +4 more	GUncertain significance
Select item 15630	NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	HBA2, LOC106804612 (L126P)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 15647	NM_000517.6(HBA2):c.*92A>G	LOC106804612, HBA2	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 375749	NM_000517.6(HBA2):c.*94A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 801167	NM_000558.5(HBA1):c.94_95del (p.Arg32fs)	HBA1, LOC106804613 (R32fs)	Microsatellite (frameshift variant)	alpha Thalassemia +5 more	GPathogenic
Select item 801169	NM_000558.5(HBA1):c.96-1G>A	HBA1, LOC106804613	Single nucleotide variant (splice acceptor variant)	HBA1-related condition +6 more	GPathogenic/Likely pathogenic
Select item 619842	NM_000558.5(HBA1):c.237del (p.Asn79fs)	HBA1, LOC106804613 (N79fs)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely 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 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 811900	NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	LOC106804613, HBA1 (P120S)	Single nucleotide variant (missense variant)	Hemoglobin H disease +5 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63