"Blueprint Genetics"[submitter] AND "TGFB2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636392	NM_003238.6(TGFB2):c.294_297dup (p.Ala100fs)	TGFB2 (A100fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 636492	NM_003238.6(TGFB2):c.346+1G>C	TGFB2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 222834	NM_003238.6(TGFB2):c.370dup (p.Arg124fs)	TGFB2 (R124fs +1 more)	Duplication (frameshift variant +1 more)	Loeys-Dietz syndrome	GLikely pathogenic
Select item 222832	NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter)	TGFB2 (R131* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 180536	NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter)	TGFB2 (Q182* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 155837	NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)	TGFB2 (V207L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 155838	NM_003238.6(TGFB2):c.644-5T>C	TGFB2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 213849	NM_003238.6(TGFB2):c.821dup (p.Asn274fs)	TGFB2 (N302fs +1 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 636933	NM_003238.6(TGFB2):c.1086+1G>A	TGFB2	Single nucleotide variant (splice donor variant)	Loeys-Dietz syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 222833	NM_003238.6(TGFB2):c.1237T>A (p.Cys413Ser)	TGFB2 (C413S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance