"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC102723566"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1056407	NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)	ENG, LOC102723566 (P395R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
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 1331646	NM_001114753.3(ENG):c.1687-1G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 237020	NM_001114753.3(ENG):c.1533G>A (p.Ala511=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GBenign/Likely benign
Select item 842548	NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)	ENG, LOC102723566 (D309fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic/Likely pathogenic
Select item 569033	NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg)	ENG, LOC102723566 (K438R +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	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 1514999	NM_001114753.3(ENG):c.1263C>G (p.Ile421Met)	ENG, LOC102723566 (I239M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance