"SMAD3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 543914	NM_005902.4(SMAD3):c.27C>T (p.Pro9=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	SMAD3-related disorder +2 more	GBenign/Likely benign
Select item 3032428	NM_005902.4(SMAD3):c.57G>A (p.Lys19=)	SMAD3	Single nucleotide variant (synonymous variant)	SMAD3-related disorder	GLikely benign
Select item 383393	NM_005902.4(SMAD3):c.207-26869C>A	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2632805	NM_005902.4(SMAD3):c.207-26846A>C	SMAD3 (Q8P)	Single nucleotide variant (missense variant +2 more)	SMAD3-related disorder	GUncertain significance
Select item 2628872	NM_005902.4(SMAD3):c.207-26843C>T	SMAD3 (T9M)	Single nucleotide variant (missense variant +2 more)	SMAD3-related disorder	GUncertain significance
Select item 3039876	NM_005902.4(SMAD3):c.207-26787C>T	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	SMAD3-related disorder	GLikely benign
Select item 284209	NM_005902.4(SMAD3):c.207-10G>A	SMAD3	Single nucleotide variant (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 2633920	NM_005902.4(SMAD3):c.242A>T (p.Lys81Met)	SMAD3 (K32M +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	SMAD3-related disorder	GUncertain significance
Select item 213801	NM_005902.4(SMAD3):c.316A>G (p.Met106Val)	SMAD3 (M106V +2 more)	Single nucleotide variant (missense variant +1 more)	SMAD3-related disorder +2 more	GLikely benign
Select item 925550	NM_005902.4(SMAD3):c.354C>T (p.Asp118=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +2 more	GLikely benign
Select item 240269	NM_005902.4(SMAD3):c.532+8C>T	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 2631401	NM_005902.4(SMAD3):c.540del (p.Pro182fs)	SMAD3 (P133fs +4 more)	Deletion (frameshift variant +1 more)	SMAD3-related disorder	GLikely pathogenic
Select item 381986	NM_005902.4(SMAD3):c.607+7C>T	SMAD3	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 252654	NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)	SMAD3 (M212I +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 413483	NM_005902.4(SMAD3):c.687G>A (p.Pro229=)	SMAD3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 413482	NM_005902.4(SMAD3):c.714C>T (p.Tyr238=)	SMAD3	Single nucleotide variant (synonymous variant)	SMAD3-related disorder +3 more	GLikely benign
Select item 629679	NM_005902.4(SMAD3):c.729C>T (p.Arg243=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +2 more	GLikely benign
Select item 920400	NM_005902.4(SMAD3):c.744C>T (p.Phe248=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +2 more	GLikely benign
Select item 702954	NM_005902.4(SMAD3):c.777C>T (p.Gly259=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 240271	NM_005902.4(SMAD3):c.783C>T (p.Thr261=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 516248	NM_005902.4(SMAD3):c.933C>T (p.Ser311=)	SMAD3	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 669533	NM_005902.4(SMAD3):c.1044C>T (p.Phe348=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +3 more	GLikely benign
Select item 710406	NM_005902.4(SMAD3):c.1065G>A (p.Ser355=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 283554	NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=)	SMAD3	Single nucleotide variant (synonymous variant)	SMAD3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 925592	NM_005902.4(SMAD3):c.*4C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	SMAD3-related disorder +1 more	GConflicting classifications of pathogenicity

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Items: 25