"CSER _CC_NCGL, University of Washington"[submitter] AND "ENG"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161229	NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)	ENG (S615L +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 161231	NM_001114753.3(ENG):c.1510G>A (p.Val504Met)	ENG, LOC102723566 (V504M +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 226040	NM_001114753.3(ENG):c.1282A>C (p.Asn428His)	ENG, LOC102723566 (N246H +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 161230	NM_001114753.3(ENG):c.1274C>T (p.Ala425Val)	ENG, LOC102723566 (A425V +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 162498	NM_001114753.3(ENG):c.1273-2A>G	ENG, LOC102723566	Single nucleotide variant (splice acceptor variant)	not specified +4 more	GPathogenic/Likely pathogenic
Select item 161233	NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)	ENG (G214S +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +3 more	GConflicting classifications of pathogenicity
Select item 226041	NM_001114753.3(ENG):c.596G>A (p.Arg199His)	ENG (R17H +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 161232	NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)	ENG (P131L)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GBenign FDA Recognized database