"Counsyl"[submitter] AND "LOC110006319"[gene] - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549922	NM_000518.5(HBB):c.*132+34C>A	HBB, LOC107133510 +1 more	Single nucleotide variant	beta Thalassemia	GLikely benign
Select item 15473	NM_000518.5(HBB):c.*113A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 15488	NM_000518.5(HBB):c.*111A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Beta-thalassemia HBB/LCRB +2 more	GPathogenic
Select item 36332	NM_000518.5(HBB):c.*110T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Hb SS disease +3 more	GPathogenic
Select item 15483	NM_000518.5(HBB):c.380T>G (p.Val127Gly)	HBB, LOC107133510 +1 more (V127G)	Single nucleotide variant (missense variant)	beta Thalassemia +2 more	GPathogenic/Likely pathogenic
Select item 15404	NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	HBB, LOC107133510 +1 more (E122*)	Single nucleotide variant (nonsense)	Dominant beta-thalassemia +2 more	GPathogenic
Select item 15342	NM_000518.5(HBB):c.328G>A (p.Val110Met)	HBB, LOC107133510 +1 more (V110M)	Single nucleotide variant (missense variant)	beta Thalassemia +2 more	GPathogenic/Likely pathogenic
Select item 552712	NM_000518.5(HBB):c.316-1G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 15451	NM_000518.5(HBB):c.316-3C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	HBB-related disorder +11 more	GPathogenic/Likely pathogenic
Select item 551906	NM_000518.5(HBB):c.316-7C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 393706	NM_000518.5(HBB):c.316-7C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 189128	NM_000518.5(HBB):c.315+1G>C	HBB, LOC106099062 +2 more	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic