"Ambry Genetics"[submitter] AND "SMAD3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 283793	NM_005902.4(SMAD3):c.-1C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 520186	NM_005902.4(SMAD3):c.1A>C (p.Met1Leu)	LOC130057352, SMAD3 (M1L)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic/Likely pathogenic
Select item 1174530	NM_005902.4(SMAD3):c.3G>A (p.Met1Ile)	LOC130057352, SMAD3 (M1I)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2452416	NM_005902.4(SMAD3):c.5C>G (p.Ser2Trp)	LOC130057352, SMAD3 (S2W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 770040	NM_005902.4(SMAD3):c.6G>A (p.Ser2=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 263814	NM_005902.4(SMAD3):c.9C>T (p.Ser3=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 3225165	NM_005902.4(SMAD3):c.11T>C (p.Ile4Thr)	LOC130057352, SMAD3 (I4T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 701973	NM_005902.4(SMAD3):c.12C>T (p.Ile4=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1798636	NM_005902.4(SMAD3):c.29dup (p.Ile11fs)	LOC130057352, SMAD3 (I11fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 543914	NM_005902.4(SMAD3):c.27C>T (p.Pro9=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 1727630	NM_005902.4(SMAD3):c.30G>T (p.Pro10=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2919472	NM_005902.4(SMAD3):c.33C>T (p.Ile11=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2452415	NM_005902.4(SMAD3):c.45G>C (p.Leu15=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1172164	NM_005902.4(SMAD3):c.46C>G (p.Leu16Val)	SMAD3 (L16V)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 264624	NM_005902.4(SMAD3):c.48G>A (p.Leu16=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
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 1757638	NM_005902.4(SMAD3):c.71A>G (p.Asn24Ser)	SMAD3 (N24S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 477578	NM_005902.4(SMAD3):c.74G>T (p.Gly25Val)	SMAD3 (G25V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 213779	NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)	SMAD3 (E28*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3320632	NM_005902.4(SMAD3):c.87A>G (p.Lys29=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1754509	NM_005902.4(SMAD3):c.101C>A (p.Ala34Glu)	SMAD3 (A34E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 629397	NM_005902.4(SMAD3):c.102G>T (p.Ala34=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1791777	NM_005902.4(SMAD3):c.109del (p.Ser37fs)	SMAD3 (S37fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 705648	NM_005902.4(SMAD3):c.126C>G (p.Leu42=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1774599	NM_005902.4(SMAD3):c.152T>C (p.Leu51Pro)	SMAD3 (L51P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1777449	NM_005902.4(SMAD3):c.165C>T (p.Ile55=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3320633	NM_005902.4(SMAD3):c.178G>A (p.Val60Ile)	SMAD3 (V60I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1308896	NM_005902.4(SMAD3):c.179T>C (p.Val60Ala)	SMAD3 (V60A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1781654	NM_005902.4(SMAD3):c.186C>T (p.Thr62=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely 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 1782644	NM_005902.4(SMAD3):c.191G>A (p.Cys64Tyr)	SMAD3 (C64Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 926025	NM_005902.4(SMAD3):c.195C>T (p.Ile65=)	SMAD3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 520181	NM_005902.4(SMAD3):c.206+3G>T	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1785214	NM_005902.4(SMAD3):c.206+4G>A	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 919768	NM_005902.4(SMAD3):c.210C>T (p.Ser70=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1786726	NM_005902.4(SMAD3):c.214G>C (p.Asp72His)	SMAD3 (D28H +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 623872	NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln)	SMAD3 (R74Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 477571	NM_005902.4(SMAD3):c.246dup (p.Leu83fs)	SMAD3 (L39fs +1 more)	Duplication (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2566749	NM_005902.4(SMAD3):c.253C>T (p.His85Tyr)	SMAD3 (H36Y +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 766471	NM_005902.4(SMAD3):c.261C>T (p.Ile87=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 2586821	NM_005902.4(SMAD3):c.262T>C (p.Tyr88His)	SMAD3 (Y39H +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 636517	NM_005902.4(SMAD3):c.263A>G (p.Tyr88Cys)	SMAD3 (Y88C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1794887	NM_005902.4(SMAD3):c.269G>C (p.Arg90Pro)	SMAD3 (R41P +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 213789	NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer)	SMAD3	Indel (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 1137294	NM_005902.4(SMAD3):c.294C>T (p.His98=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 413480	NM_005902.4(SMAD3):c.309A>T (p.Leu103=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 139217	NM_005902.4(SMAD3):c.309A>G (p.Leu103=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome +3 more	GBenign
Select item 520183	NM_005902.4(SMAD3):c.310C>T (p.Arg104Trp)	SMAD3 (R104W +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1727845	NM_005902.4(SMAD3):c.311G>A (p.Arg104Gln)	SMAD3 (R60Q +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2566747	NM_005902.4(SMAD3):c.313_314delinsTT (p.Ala105Phe)	SMAD3 (A56F +2 more)	Indel (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2452421	NM_005902.4(SMAD3):c.313G>T (p.Ala105Ser)	SMAD3 (A61S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2452423	NM_005902.4(SMAD3):c.314C>T (p.Ala105Val)	SMAD3 (A56V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1728408	NM_005902.4(SMAD3):c.316A>T (p.Met106Leu)	SMAD3 (M1L +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	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)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 852522	NM_005902.4(SMAD3):c.323T>G (p.Leu108Arg)	SMAD3 (L3R +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 264429	NM_005902.4(SMAD3):c.333C>T (p.Phe111=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 30312	NM_005902.4(SMAD3):c.335C>T (p.Ala112Val)	SMAD3 (A112V +2 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1171780	NM_005902.4(SMAD3):c.340A>G (p.Asn114Asp)	SMAD3 (N114D +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1196765	NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del)	SMAD3 (K117del +2 more)	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 925550	NM_005902.4(SMAD3):c.354C>T (p.Asp118=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 629788	NM_005902.4(SMAD3):c.363C>T (p.Cys121=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +2 more	GLikely benign
Select item 155836	NM_005902.4(SMAD3):c.364G>A (p.Val122Met)	SMAD3 (V122M +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 264116	NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu)	SMAD3 (P124L +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 629808	NM_005902.4(SMAD3):c.372C>A (p.Pro124=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 263339	NM_005902.4(SMAD3):c.376C>T (p.His126Tyr)	SMAD3 (H126Y +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1735230	NM_005902.4(SMAD3):c.381C>A (p.Tyr127Ter)	SMAD3 (Y78* +3 more)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 263909	NM_005902.4(SMAD3):c.381C>T (p.Tyr127=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 628999	NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln)	SMAD3 (E131Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 213803	NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)	SMAD3 (T132A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 924069	NM_005902.4(SMAD3):c.400+5G>T	SMAD3	Single nucleotide variant (intron variant)	Aneurysm-osteoarthritis syndrome +2 more	GUncertain significance
Select item 213782	NM_005902.4(SMAD3):c.401-6G>A	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic/Likely pathogenic
Select item 263331	NM_005902.4(SMAD3):c.414G>A (p.Val138=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 1739758	NM_005902.4(SMAD3):c.432A>G (p.Thr144=)	SMAD3	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 520184	NM_005902.4(SMAD3):c.436_447del (p.Ile146_Glu149del)	SMAD3	Deletion (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 196428	NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)	SMAD3 (P147L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 378621	NM_005902.4(SMAD3):c.441G>A (p.Pro147=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +2 more	GLikely benign
Select item 1172454	NM_005902.4(SMAD3):c.444C>T (p.Ala148=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 3225168	NM_005902.4(SMAD3):c.455C>G (p.Pro152Arg)	SMAD3 (P103R +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 213758	NM_005902.4(SMAD3):c.457C>T (p.Leu153=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +4 more	GBenign/Likely benign
Select item 508342	NM_005902.4(SMAD3):c.462C>T (p.Asp154=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 387889	NM_005902.4(SMAD3):c.483C>T (p.Pro161=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +2 more	GBenign/Likely benign
Select item 2152248	NM_005902.4(SMAD3):c.492dup (p.Asn165Ter)	SMAD3 (N165* +2 more)	Duplication (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 926333	NM_005902.4(SMAD3):c.495C>T (p.Asn165=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 919147	NM_005902.4(SMAD3):c.498C>T (p.Phe166=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 389260	NM_005902.4(SMAD3):c.501C>T (p.Pro167=)	SMAD3	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
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 390771	NM_005902.4(SMAD3):c.510C>T (p.Ile170=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 2562309	NM_005902.4(SMAD3):c.514C>T (p.Pro172Ser)	SMAD3 (P128S +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1329286	NM_005902.4(SMAD3):c.533-1G>A	SMAD3	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 2566751	NM_005902.4(SMAD3):c.546dup (p.Gly183fs)	SMAD3 (G34fs +4 more)	Duplication (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2452417	NM_005902.4(SMAD3):c.596G>C (p.Ser199Thr)	SMAD3 (S199T +5 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 240270	NM_005902.4(SMAD3):c.603C>T (p.Asp201=)	SMAD3	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1171415	NM_005902.4(SMAD3):c.604G>A (p.Ala202Thr)	SMAD3 (A158T +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 405567	NM_005902.4(SMAD3):c.607+1G>T	SMAD3	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 252654	NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)	SMAD3 (M212I +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2586820	NM_005902.4(SMAD3):c.647A>G (p.His216Arg)	SMAD3 (H167R +5 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 30309	NM_005902.4(SMAD3):c.653del (p.Asn218fs)	SMAD3 (N218fs +3 more)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic

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