"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213833	NM_003238.6(TGFB2):c.-5A>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 213834	NM_003238.6(TGFB2):c.114G>A (p.Glu38=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 213839	NM_003238.6(TGFB2):c.199G>A (p.Val67Met)	TGFB2 (V67M)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 1702285	NM_003238.6(TGFB2):c.254G>A (p.Arg85Lys)	TGFB2 (R85K)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 213835	NM_003238.6(TGFB2):c.272G>A (p.Arg91His)	TGFB2 (R91H)	Single nucleotide variant (missense variant +1 more)	Holt-Oram syndrome +5 more	GBenign/Likely benign
Select item 380608	NM_003238.6(TGFB2):c.303G>A (p.Lys101=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 213840	NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)	TGFB2 (P119L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 213836	NM_003238.6(TGFB2):c.357G>A (p.Pro119=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 509439	NM_003238.6(TGFB2):c.501G>A (p.Glu167=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 459269	NM_003238.6(TGFB2):c.555C>T (p.Ile185=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 264449	NM_003238.6(TGFB2):c.588C>T (p.Gly196=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 139416	NM_003238.6(TGFB2):c.643+7A>C	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4 +4 more	GBenign/Likely benign
Select item 1702286	NM_003238.6(TGFB2):c.988C>G (p.Leu330Val)	TGFB2 (L330V +1 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702284	NM_003238.6(TGFB2):c.1041del (p.Gly348fs)	TGFB2 (G348fs +1 more)	Deletion (frameshift variant +1 more)	Ehlers-Danlos syndrome	GPathogenic