"Eurofins Ntd Llc (ga)"[submitter] AND "ENG"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282707	NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)	ENG, LOC102723566 (R571C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance FDA Recognized database
Select item 498114	NM_001114753.3(ENG):c.1687-1G>T	LOC102723566, ENG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 193973	NM_001114753.3(ENG):c.1572C>T (p.Pro524=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 213202	NM_001114753.3(ENG):c.1374A>G (p.Pro458=)	LOC102723566, ENG	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 284669	NM_001114753.3(ENG):c.880_881del (p.Asp294fs)	ENG (D112fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 593503	NM_001114753.3(ENG):c.690-2A>T	ENG	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 213200	NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)	ENG (G191D +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GBenign FDA Recognized database
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
Select item 265370	NM_001114753.3(ENG):c.360+1G>A	ENG	Single nucleotide variant (splice donor variant)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic
Select item 193047	NM_001114753.3(ENG):c.67+5G>A	ENG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 178774	NM_001114753.3(ENG):c.14C>T (p.Thr5Met)	ENG (T5M)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +3 more	GBenign/Likely benign