"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC110006319"[gen - ClinVar - NCBI

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Items: 10

	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)	not provided +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)	Dominant beta-thalassemia +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)	Hereditary persistence of fetal hemoglobin +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)	beta Thalassemia +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)	Sickle cell-Hemoglobin O Arab disease +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)	beta Thalassemia +10 more	GPathogenic
Select item 1330020	NM_000518.5(HBB):c.316-3C>T	LOC110006319, HBB +1 more	Single nucleotide variant (intron variant)	Heinz body anemia +9 more	GUncertain significance
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 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 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