"GeneDx"[submitter] AND "LOC106099062"[gene] - ClinVar

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

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 869356	NM_000518.5(HBB):c.315+5G>C	HBB, LOC106099062 +2 more	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 15438	NM_000518.5(HBB):c.315+1G>A	LOC106099062, LOC107133510 +2 more	Single nucleotide variant (splice donor variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
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 15527	NM_000518.4(HBB):c.203T>G (p.Val68Gly)	HBB, LOC106099062 +1 more (V68G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15406	NM_000518.5(HBB):c.130G>T (p.Glu44Ter)	LOC106099062, LOC107133510 +1 more (E44*)	Single nucleotide variant (nonsense)	beta Thalassemia +3 more	GPathogenic
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 15190	NM_000518.5(HBB):c.128T>C (p.Phe43Ser)	HBB, LOC106099062 +1 more (F43S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 15405	NM_000518.5(HBB):c.114G>A (p.Trp38Ter)	HBB, LOC106099062 +1 more (W38*)	Single nucleotide variant (nonsense)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 15442	NM_000518.5(HBB):c.93-22_95del	HBB, LOC106099062 +1 more	Deletion (splice acceptor variant)	Beta-thalassemia HBB/LCRB +4 more	GPathogenic
Select item 15454	NM_000518.5(HBB):c.93-21G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases +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)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 15448	NM_000518.5(HBB):c.92+5G>T	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
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 15437	NM_000518.5(HBB):c.92+1G>T	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	Beta-thalassemia HBB/LCRB +12 more	GPathogenic/Likely pathogenic
Select item 15436	NM_000518.5(HBB):c.92+1G>A	LOC107133510, HBB +1 more	Single nucleotide variant (splice donor variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15184	NM_000518.4(HBB):c.83C>T (p.Ala28Val)	HBB, LOC106099062 +1 more (A28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15239	NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	HBB, LOC106099062 +1 more (A28S)	Single nucleotide variant (missense variant)	Hemoglobinopathy +4 more	GPathogenic/Likely pathogenic
Select item 15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB, LOC106099062 +1 more (E27K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +15 more	GPathogenic
Select item 15459	NM_000518.5(HBB):c.75T>A (p.Gly25=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 15151	NM_000518.4(HBB):c.67G>C (p.Glu23Gln)	HBB, LOC106099062 +1 more (E23Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15401	NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	HBB, LOC106099062 +1 more (K18*)	Single nucleotide variant (nonsense)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic
Select item 15213	NM_000518.5(HBB):c.50G>A (p.Gly17Asp)	LOC107133510, HBB +1 more (G17D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 38646	NM_000518.5(HBB):c.48G>A (p.Trp16Ter)	HBB, LOC106099062 +1 more (W16*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 15403	NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	HBB, LOC106099062 +1 more (W16*)	Single nucleotide variant (nonsense)	Beta-thalassemia HBB/LCRB +3 more	GPathogenic
Select item 36308	NM_000518.5(HBB):c.27dup (p.Ser10fs)	HBB, LOC106099062 +1 more (S10fs)	Duplication (frameshift variant)	Beta-thalassemia HBB/LCRB +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)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	LOC106099062, LOC107133510 +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)	LOC106099062, LOC107133510 +1 more (E7K)	Single nucleotide variant (missense variant)	HBB-related condition +16 more	GPathogenic
Select item 193106	NM_000518.5(HBB):c.9T>C (p.His3=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +14 more	GBenign
Select item 15469	NM_000518.5(HBB):c.-79A>G	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 36282	NM_000518.4(HBB):c.-133G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15465	NM_000518.4(HBB):c.-136C>G	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GPathogenic/Likely pathogenic
Select item 15464	NM_000518.5(HBB):c.-137C>G	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +11 more	GPathogenic/Likely pathogenic
Select item 15460	NM_000518.5(HBB):c.-138C>T	LOC107133510, HBB +1 more	Single nucleotide variant	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
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 15461	NM_000518.5(HBB):c.-151C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +11 more	GConflicting classifications of pathogenicity
Select item 869329	NC_000011.10:g.5227411G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GBenign
Select item 869330	NC_000011.10:g.5227540G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1250619	NC_000011.10:g.5227562T>G	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GBenign

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: 41