"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GDF2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 697788	NM_016204.4(GDF2):c.378C>A (p.Phe126Leu)	GDF2 (F126L)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GBenign/Likely benign
Select item 695467	NM_016204.4(GDF2):c.652G>A (p.Asp218Asn)	GDF2 (D218N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1312603	NM_016204.4(GDF2):c.712G>A (p.Asp238Asn)	GDF2 (D238N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 706045	NM_016204.4(GDF2):c.732C>T (p.Val244=)	GDF2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 695332	NM_016204.4(GDF2):c.776A>G (p.Asn259Ser)	GDF2 (N259S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 390215	NM_016204.4(GDF2):c.871G>A (p.Gly291Ser)	GDF2 (G291S)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5 +1 more	GConflicting classifications of pathogenicity
Select item 474673	NM_016204.4(GDF2):c.911C>T (p.Thr304Met)	GDF2 (T304M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 658226	NM_016204.4(GDF2):c.964G>A (p.Gly322Arg)	GDF2 (G322R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5 +1 more	GConflicting classifications of pathogenicity
Select item 788158	NM_016204.4(GDF2):c.1281G>T (p.Gly427=)	GDF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity