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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1702294	NM_003242.6(TGFBR2):c.363C>A (p.Cys121Ter)	TGFBR2 (C121* +3 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome	GUncertain significance
Select item 811924	NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val)	TGFBR2 (E151V +3 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 1702295	NM_003242.6(TGFBR2):c.928G>T (p.Ala310Ser)	TGFBR2 (A310S +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 12502	NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)	TGFBR2 (T315M +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +6 more	GBenign/Likely benign
Select item 36869	NM_003242.6(TGFBR2):c.984C>T (p.His328=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome +7 more	GBenign/Likely benign
Select item 44661	NM_003242.6(TGFBR2):c.999A>G (p.Leu333=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign
Select item 137636	NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 36859	NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)	TGFBR2 (M373I +8 more)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 44651	NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	TGFBR2 (V387M +8 more)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 36862	NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)	TGFBR2 (V387L +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +6 more	GConflicting classifications of pathogenicity
Select item 36865	NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +6 more	GBenign
Select item 697589	NM_003242.6(TGFBR2):c.1473G>A (p.Val491=)	TGFBR2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 44656	NM_003242.6(TGFBR2):c.1525-7G>A	TGFBR2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 239530	NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=)	TGFBR2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 1702293	NM_003242.6(TGFBR2):c.1582C>G (p.Arg528Gly)	TGFBR2 (R528G +10 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 137637	NM_003242.6(TGFBR2):c.1602G>A (p.Val534=)	TGFBR2	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2 +6 more	GBenign/Likely benign
Select item 161394	NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)	TGFBR2 (S578T +10 more)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity