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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 922300	NM_005902.4(SMAD3):c.-10C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 213757	NM_005902.4(SMAD3):c.66G>A (p.Glu22=)	SMAD3	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 451675	NM_005902.4(SMAD3):c.189G>C (p.Lys63Asn)	SMAD3 (K63N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 284209	NM_005902.4(SMAD3):c.207-10G>A	SMAD3	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome +6 more	GConflicting classifications of pathogenicity
Select item 263428	NM_005902.4(SMAD3):c.269G>A (p.Arg90His)	SMAD3 (R90H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 926301	NM_005902.4(SMAD3):c.303C>T (p.His101=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 139212	NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)	SMAD3 (I170V +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1702280	NM_005902.4(SMAD3):c.567A>C (p.Gly189=)	SMAD3	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1702283	NM_005902.4(SMAD3):c.594del (p.His198fs)	SMAD3 (H154fs +3 more)	Deletion (frameshift variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1010026	NM_005902.4(SMAD3):c.597C>T (p.Ser199=)	SMAD3	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1700008	NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe)	SMAD3 (S129F +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 264379	NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)	SMAD3 (R243C +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 30306	NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)	SMAD3 (R287W +3 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GPathogenic/Likely pathogenic
Select item 139213	NM_005902.4(SMAD3):c.870C>T (p.Ile290=)	SMAD3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 698887	NM_005902.4(SMAD3):c.879C>T (p.Gly293=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1702279	NM_005902.4(SMAD3):c.1065G>T (p.Ser355=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 264036	NM_005902.4(SMAD3):c.1102C>A (p.Arg368=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +5 more	GLikely benign
Select item 570649	NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)	SMAD3 (I396V +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 444347	NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys)	SMAD3 (R420C +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +3 more	GUncertain significance