"Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 15201	NM_000518.5(HBB):c.380T>A (p.Val127Glu)	LOC107133510, LOC110006319 +1 more (V127E)	Single nucleotide variant (missense variant)	beta Thalassemia +1 more	GConflicting classifications of pathogenicity
Select item 36320	NM_000518.5(HBB):c.316-70C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 632851	NM_000518.5(HBB):c.316-179A>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15147	NM_000518.4(HBB):c.269G>A (p.Ser90Asn)	HBB, LOC106099062 +1 more (S90N)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +2 more	GPathogenic/Likely pathogenic; other
Select item 36340	NM_000518.5(HBB):c.93-23T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +2 more	GConflicting classifications of pathogenicity
Select item 796462	NM_000518.5(HBB):c.93-40C>T	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 15234	NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	HBB, LOC106099062 +1 more (R31T)	Single nucleotide variant (missense variant)	beta Thalassemia +4 more	GPathogenic
Select item 38682	NM_000518.5(HBB):c.90C>T (p.Gly30=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	HBB, LOC106099062 +1 more (K18fs)	Deletion (frameshift variant)	HBB-related disorder +13 more	GPathogenic
Select item 439155	NM_000518.5(HBB):c.33C>A (p.Ala11=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 15359	NM_000518.5(HBB):c.4G>A (p.Val2Met)	HBB, LOC106099062 +1 more (V2M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15466	NM_000518.5(HBB):c.-81A>G	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +1 more	GPathogenic
Select item 36298	NC_000011.10:g.5227113G>C	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +1 more	GConflicting classifications of pathogenicity
Select item 869326	NM_000518.5(HBB):c.-122T>A	LOC107133510, HBB +1 more	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15465	NC_000011.10:g.5227157G>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GPathogenic/Likely pathogenic
Select item 15514	NM_000518.5(HBB):c.-140C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	HBB-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 15461	NC_000011.10:g.5227172G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +10 more	GPathogenic