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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 256342	NM_000518.4(HBB):c.*316A>C	HBB, LOC107133510 +1 more	Single nucleotide variant	not provided +1 more	GBenign
Select item 256341	NC_000011.10:g.5225365C>G	HBB, LOC107133510 +1 more	Single nucleotide variant	not specified +1 more	GBenign
Select item 36331	NM_000518.5(HBB):c.*96T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	beta Thalassemia +1 more	GConflicting classifications of pathogenicity
Select item 15152	NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	HBB, LOC107133510 +1 more (E122Q)	Single nucleotide variant (missense variant)	HBB-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 242712	NM_000518.5(HBB):c.359G>A (p.Gly120Asp)	HBB, LOC107133510 +1 more (G120D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15286	NM_000518.5(HBB):c.341T>A (p.Val114Glu)	HBB, LOC107133510 +1 more (V114E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21191	NM_000518.5(HBB):c.316-2A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	beta Thalassemia +10 more	GPathogenic
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 36313	NM_000518.5(HBB):c.316-14T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 15457	NM_000518.5(HBB):c.316-106C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +10 more	GPathogenic/Likely pathogenic
Select item 439149	NM_000518.5(HBB):c.316-125A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 36316	NM_000518.5(HBB):c.316-185C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +2 more	GBenign
Select item 15458	NM_000518.5(HBB):c.316-197C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 439774	NM_000518.5(HBB):c.315+81C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 439775	NM_000518.5(HBB):c.315+74T>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +1 more	GBenign
Select item 256345	NM_000518.5(HBB):c.315+16G>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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	HBB, LOC106099062 +2 more	Single nucleotide variant (splice donor variant)	Dominant beta-thalassemia +11 more	GPathogenic