ClinVar for MedGen (Select 462437) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382288	NM_005902.4(SMAD3):c.785del (p.Asp262fs)	SMAD3 (D113fs +5 more)	Deletion (frameshift variant)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 3254646	NM_005902.4(SMAD3):c.200T>G (p.Ile67Ser)	SMAD3 (I67S)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 3254640	NM_005902.4(SMAD3):c.1268G>C (p.Ser423Thr)	SMAD3 (S228T +7 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 3075380	NM_005902.4(SMAD3):c.2T>C (p.Met1Thr)	LOC130057352, SMAD3 (M1T)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 3075270	NM_005902.4(SMAD3):c.155A>G (p.Glu52Gly)	SMAD3 (E52G)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3075165	NM_005902.4(SMAD3):c.900_902dup (p.Gly301_Glu302insGly)	SMAD3	Duplication (inframe_insertion +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3075115	NM_005902.4(SMAD3):c.-5C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3074774	NM_005902.4(SMAD3):c.821T>A (p.Leu274His)	SMAD3 (L125H +5 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3074755	NM_005902.4(SMAD3):c.380A>G (p.Tyr127Cys)	SMAD3 (Y127C +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3074714	NM_005902.4(SMAD3):c.24T>G (p.Thr8=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3074694	NM_005902.4(SMAD3):c.993C>T (p.Val331=)	SMAD3	Single nucleotide variant (synonymous variant +1 more)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3074495	NM_005902.4(SMAD3):c.860G>T (p.Arg287Leu)	SMAD3 (R138L +5 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3074083	NM_005902.4(SMAD3):c.269G>T (p.Arg90Leu)	SMAD3 (R41L +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3073880	NM_005902.4(SMAD3):c.164T>G (p.Ile55Ser)	SMAD3 (I55S)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3073775	NM_005902.4(SMAD3):c.187A>G (p.Lys63Glu)	SMAD3 (K63E)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3073726	NM_005902.4(SMAD3):c.344T>C (p.Met115Thr)	SMAD3 (M10T +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3073660	NM_005902.4(SMAD3):c.375C>T (p.Tyr125=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3073615	NM_005902.4(SMAD3):c.110G>A (p.Ser37Asn)	SMAD3 (S37N)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3073479	NM_005902.4(SMAD3):c.1154+3C>A	SMAD3	Single nucleotide variant (intron variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3073445	NM_005902.4(SMAD3):c.533-10T>C	SMAD3	Single nucleotide variant (intron variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3073328	NM_005902.4(SMAD3):c.1040A>C (p.Glu347Ala)	SMAD3 (E152A +7 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3072924	NM_005902.4(SMAD3):c.660C>A (p.Asp220Glu)	SMAD3 (D115E +5 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3072697	NM_005902.4(SMAD3):c.-5del	LOC130057352, SMAD3	Deletion (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3072681	NM_005902.4(SMAD3):c.1011A>G (p.Gly337=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3072669	NM_005902.4(SMAD3):c.608-4_611del	SMAD3	Deletion (splice acceptor variant)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 3072657	NM_005902.4(SMAD3):c.1155-13C>T	SMAD3	Single nucleotide variant (intron variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3072646	NM_005902.4(SMAD3):c.897C>G (p.Ile299Met)	SMAD3 (I104M +5 more)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3072622	NM_005902.4(SMAD3):c.614C>T (p.Pro205Leu)	SMAD3 (P100L +5 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3072228	NM_005902.4(SMAD3):c.748G>A (p.Ala250Thr)	SMAD3 (A101T +5 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3072187	NM_005902.4(SMAD3):c.99G>A (p.Lys33=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3072170	NM_005902.4(SMAD3):c.739A>T (p.Thr247Ser)	SMAD3 (T142S +5 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3072135	NM_005902.4(SMAD3):c.735G>A (p.Gly245=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3072096	NM_005902.4(SMAD3):c.831C>T (p.Val277=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3071831	NM_005902.4(SMAD3):c.702C>T (p.Ser234=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3071617	NM_005902.4(SMAD3):c.567A>G (p.Gly189=)	SMAD3	Single nucleotide variant (synonymous variant +1 more)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3071438	NM_005902.4(SMAD3):c.303_304insTC (p.Glu102fs)	SMAD3 (E102fs +2 more)	Insertion (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 3071429	NM_005902.4(SMAD3):c.929A>G (p.Asp310Gly)	SMAD3 (D115G +5 more)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3071421	NM_005902.4(SMAD3):c.540A>C (p.Pro180=)	SMAD3	Single nucleotide variant (synonymous variant +1 more)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3071377	NM_005902.4(SMAD3):c.983C>T (p.Pro328Leu)	SMAD3 (P133L +5 more)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3071150	NM_005902.4(SMAD3):c.206+4G>T	SMAD3	Single nucleotide variant (intron variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3071141	NM_005902.4(SMAD3):c.663G>A (p.Leu221=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3071003	NM_005902.4(SMAD3):c.1199T>C (p.Leu400Pro)	SMAD3 (L205P +7 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3070801	NM_005902.4(SMAD3):c.-5C>A	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3070769	NM_005902.4(SMAD3):c.663_664insGGA (p.Leu221_Gln222insGly)	SMAD3	Insertion (inframe_insertion)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3070768	NM_005902.4(SMAD3):c.665_666insCAGTTACCTACTGCG (p.Gln222delinsHisSerTyrLeuLeuArg)	SMAD3	Insertion (inframe_indel)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3070747	NM_005902.4(SMAD3):c.13C>T (p.Leu5=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3070740	NM_005902.4(SMAD3):c.484G>A (p.Glu162Lys)	SMAD3 (E113K +3 more)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3070737	NM_005902.4(SMAD3):c.455C>T (p.Pro152Leu)	SMAD3 (P103L +3 more)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3070383	NM_005902.4(SMAD3):c.927T>C (p.Ser309=)	SMAD3	Single nucleotide variant (synonymous variant +1 more)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3070232	NM_005902.4(SMAD3):c.401-6G>C	SMAD3	Single nucleotide variant (intron variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3069630	NM_005902.4(SMAD3):c.541C>T (p.Pro181Ser)	SMAD3 (P132S +4 more)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3069612	NM_005902.4(SMAD3):c.68A>G (p.Gln23Arg)	SMAD3 (Q23R)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 2998584	NM_005902.4(SMAD3):c.544C>T (p.Pro182Ser)	SMAD3 (P133S +4 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2978575	NM_005902.4(SMAD3):c.827A>G (p.Asn276Ser)	SMAD3 (N232S +5 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2958183	NM_005902.4(SMAD3):c.529C>T (p.Pro177Ser)	SMAD3 (P133S +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
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 2906967	NM_005902.4(SMAD3):c.25C>T (p.Pro9Ser)	LOC130057352, SMAD3 (P9S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2774514	NM_005902.4(SMAD3):c.920G>A (p.Cys307Tyr)	SMAD3 (C158Y +5 more)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 2738130	NM_005902.4(SMAD3):c.506G>A (p.Gly169Asp)	SMAD3 (G125D +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 2724781	NM_005902.4(SMAD3):c.1002C>T (p.Ile334=)	SMAD3	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2627590	NM_005902.4(SMAD3):c.170C>G (p.Thr57Arg)	SMAD3 (T57R)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 2582529	NM_005902.4(SMAD3):c.295A>G (p.Ser99Gly)	SMAD3 (S50G +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 2580991	NM_005902.4(SMAD3):c.1050C>T (p.Ala350=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 2574086	NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)	SMAD3 (Q23*)	Single nucleotide variant (nonsense)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 2574085	NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)	SMAD3 (Y121S +5 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 2504701	NM_005902.4(SMAD3):c.1103G>A (p.Arg368Gln)	SMAD3 (R173Q +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436115	NM_005902.4(SMAD3):c.590A>C (p.Asn197Thr)	SMAD3 (N148T +5 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 2431521	NM_005902.4(SMAD3):c.435_436del (p.Glu145fs)	SMAD3 (E101fs +2 more)	Microsatellite (frameshift variant)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 2194328	NM_005902.4(SMAD3):c.533-5C>T	SMAD3	Single nucleotide variant (intron variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 2156298	NM_005902.4(SMAD3):c.608-5C>T	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2057677	NM_005902.4(SMAD3):c.608-7C>T	SMAD3	Single nucleotide variant (intron variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 1810760	NM_005902.4(SMAD3):c.28C>G (p.Pro10Ala)	LOC130057352, SMAD3 (P10A)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 1806382	NM_005902.4(SMAD3):c.1180T>C (p.Cys394Arg)	SMAD3 (C199R +7 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 1805020	NM_005902.4(SMAD3):c.207-26806G>T	SMAD3 (W21C)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 1755135	NM_005902.4(SMAD3):c.672T>C (p.Val224=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely 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 1710008	NM_005902.4(SMAD3):c.807C>A (p.Phe269Leu)	SMAD3 (F120L +5 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 1709587	NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter)	SMAD3 (E111* +5 more)	Single nucleotide variant (nonsense)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 1709245	NM_005902.4(SMAD3):c.335C>A (p.Ala112Asp)	SMAD3 (A112D +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
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 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 1677493	NM_005902.4(SMAD3):c.1145C>T (p.Ala382Val)	SMAD3 (A187V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1676550	NM_005902.4(SMAD3):c.96G>C (p.Glu32Asp)	SMAD3 (E32D)	Single nucleotide variant	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1597652	NM_005902.4(SMAD3):c.177C>T (p.Asn59=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 1586312	NM_005902.4(SMAD3):c.999G>A (p.Lys333=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1554453	NM_005902.4(SMAD3):c.153G>A (p.Leu51=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1334527	NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs)	SMAD3 (C165fs +3 more)	Indel (frameshift variant)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 1333944	NM_005902.4(SMAD3):c.398C>G (p.Pro133Arg)	SMAD3 (P133R +2 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 1333943	NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr)	SMAD3 (A34T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1332571	NM_005902.4(SMAD3):c.1179C>T (p.Pro393=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 1332103	NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys)	SMAD3 (R128C +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1330798	NM_005902.4(SMAD3):c.445_455del (p.Glu149fs)	SMAD3 (E105fs +2 more)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 1330668	NM_005902.4(SMAD3):c.206+11G>T	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 1330565	NM_005902.4(SMAD3):c.658+15G>C	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1328502	NM_005902.4(SMAD3):c.1151A>G (p.Tyr384Cys)	SMAD3 (Y189C +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 1314782	NM_005902.4(SMAD3):c.784G>A (p.Asp262Asn)	SMAD3 (D157N +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1303261	NM_005902.4(SMAD3):c.317T>C (p.Met106Thr)	SMAD3 (M106T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1231492	NM_005902.4(SMAD3):c.591C>T (p.Asn197=)	SMAD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1172454	NM_005902.4(SMAD3):c.444C>T (p.Ala148=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign

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