SMAD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 657387	NC_000015.10:g.(?_66703239)_(67190556_?)del	LOC130057348, LOC130057349 +33 more	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 584398	NC_000015.10:g.(?_66703239)_(67066380_?)del	LOC110120917, LOC111413015 +19 more	Deletion	Aortic valve disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 316851	NM_005902.4(SMAD3):c.-280C>A	SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 316852	NM_005902.4(SMAD3):c.-265T>G	SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 316853	NM_005902.4(SMAD3):c.-244G>A	SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 316854	NM_005902.4(SMAD3):c.-240G>T	SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 316855	NM_005902.4(SMAD3):c.-217C>T	SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 316856	NM_005902.4(SMAD3):c.-168C>A	SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 316857	NM_005902.4(SMAD3):c.-164A>C	SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 884685	NM_005902.4(SMAD3):c.-139C>G	SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 316858	NM_005902.4(SMAD3):c.-115C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 316859	NM_005902.4(SMAD3):c.-100C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 884686	NM_005902.4(SMAD3):c.-38C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 139214	NM_005902.4(SMAD3):c.-28C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 139215	NM_005902.4(SMAD3):c.-23C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome +2 more	GBenign
Select item 506315	NM_005902.4(SMAD3):c.-18C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1172449	NM_005902.4(SMAD3):c.-17_-15delinsACA	LOC130057352, SMAD3	Indel (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 139216	NM_005902.4(SMAD3):c.-15G>A	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
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 3072697	NM_005902.4(SMAD3):c.-5del	LOC130057352, SMAD3	Deletion (5 prime UTR variant)	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 3070801	NM_005902.4(SMAD3):c.-5C>A	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 924233	NM_005902.4(SMAD3):c.-2C>G	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 1172631	NM_005902.4(SMAD3):c.1A>G (p.Met1Val)	LOC130057352, SMAD3 (M1V)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm	GPathogenic
Select item 930360	NM_005902.4(SMAD3):c.1A>T (p.Met1Leu)	LOC130057352, SMAD3 (M1L)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome +1 more	GPathogenic/Likely pathogenic
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 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 1174530	NM_005902.4(SMAD3):c.3G>A (p.Met1Ile)	LOC130057352, SMAD3 (M1I)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +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 451689	NM_005902.4(SMAD3):c.5C>A (p.Ser2Ter)	LOC130057352, SMAD3 (S2*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
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 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 3070747	NM_005902.4(SMAD3):c.13C>T (p.Leu5=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 2029638	NM_005902.4(SMAD3):c.15G>A (p.Leu5=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 213778	NM_005902.4(SMAD3):c.17C>T (p.Pro6Leu)	LOC130057352, SMAD3 (P6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 920433	NM_005902.4(SMAD3):c.21del (p.Phe7fs)	LOC130057352, SMAD3 (F7fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 1427948	NM_005902.4(SMAD3):c.23C>G (p.Thr8Ser)	LOC130057352, SMAD3 (T8S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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 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 2906967	NM_005902.4(SMAD3):c.25C>T (p.Pro9Ser)	LOC130057352, SMAD3 (P9S)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 543914	NM_005902.4(SMAD3):c.27C>T (p.Pro9=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	SMAD3-related condition +2 more	GBenign/Likely benign
Select item 1810760	NM_005902.4(SMAD3):c.28C>G (p.Pro10Ala)	LOC130057352, SMAD3 (P10A)	Single nucleotide variant (missense variant)	Broad distal phalanx of the thumb	GLikely pathogenic
Select item 1727630	NM_005902.4(SMAD3):c.30G>T (p.Pro10=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1711384	NM_005902.4(SMAD3):c.30G>A (p.Pro10=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919472	NM_005902.4(SMAD3):c.33C>T (p.Ile11=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 477574	NM_005902.4(SMAD3):c.34G>T (p.Val12Leu)	LOC130057352, SMAD3 (V12L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2141281	NM_005902.4(SMAD3):c.36G>C (p.Val12=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 629399	NM_005902.4(SMAD3):c.36G>A (p.Val12=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3016331	NM_005902.4(SMAD3):c.41G>C (p.Arg14Pro)	LOC130057352, SMAD3 (R14P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2452415	NM_005902.4(SMAD3):c.45G>C (p.Leu15=)	SMAD3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1172164	NM_005902.4(SMAD3):c.46C>G (p.Leu16Val)	SMAD3 (L16V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +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 742631	NM_005902.4(SMAD3):c.51C>T (p.Gly17=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 420915	NM_005902.4(SMAD3):c.54del (p.Gly17_Trp18insTer)	SMAD3	Deletion (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 1171048	NM_005902.4(SMAD3):c.56A>G (p.Lys19Arg)	SMAD3 (K19R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3032428	NM_005902.4(SMAD3):c.57G>A (p.Lys19=)	SMAD3	Single nucleotide variant (synonymous variant)	SMAD3-related condition	GLikely benign
Select item 2573895	NM_005902.4(SMAD3):c.57G>T (p.Lys19Asn)	SMAD3 (K19N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 742632	NM_005902.4(SMAD3):c.60G>A (p.Lys20=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2897520	NM_005902.4(SMAD3):c.63C>T (p.Gly21=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1140671	NM_005902.4(SMAD3):c.63C>A (p.Gly21=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 742633	NM_005902.4(SMAD3):c.63C>G (p.Gly21=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1683948	NM_005902.4(SMAD3):c.64G>A (p.Glu22Lys)	SMAD3 (E22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1454233	NM_005902.4(SMAD3):c.65_71dup (p.Asn24fs)	SMAD3 (N24fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 213757	NM_005902.4(SMAD3):c.66G>A (p.Glu22=)	SMAD3	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
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 3069612	NM_005902.4(SMAD3):c.68A>G (p.Gln23Arg)	SMAD3 (Q23R)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 919505	NM_005902.4(SMAD3):c.69G>A (p.Gln23=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely 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 765182	NM_005902.4(SMAD3):c.72C>T (p.Asn24=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 575061	NM_005902.4(SMAD3):c.72C>G (p.Asn24Lys)	SMAD3 (N24K)	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)	Aneurysm-osteoarthritis syndrome +2 more	GUncertain significance
Select item 2038647	NM_005902.4(SMAD3):c.79GAG[1] (p.Glu28del)	SMAD3 (E28del)	Microsatellite (inframe_indel +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 928248	NM_005902.4(SMAD3):c.81G>A (p.Glu27=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 213779	NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)	SMAD3 (E28*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 982355	NM_005902.4(SMAD3):c.94G>T (p.Glu32Ter)	SMAD3 (E32*)	Single nucleotide variant (nonsense)	Isolated thoracic aortic aneurysm	GLikely pathogenic
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 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 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)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 213788	NM_005902.4(SMAD3):c.110_121del (p.Ser37_Lys40del)	SMAD3	Deletion (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2691031	NM_005902.4(SMAD3):c.106A>T (p.Lys36Ter)	SMAD3 (K36*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 2830082	NM_005902.4(SMAD3):c.109A>T (p.Ser37Cys)	SMAD3 (S37C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 3073615	NM_005902.4(SMAD3):c.110G>A (p.Ser37Asn)	SMAD3 (S37N)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 543897	NM_005902.4(SMAD3):c.110G>T (p.Ser37Ile)	SMAD3 (S37I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 213806	NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle)	SMAD3	Deletion (inframe_indel)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1475899	NM_005902.4(SMAD3):c.115G>C (p.Val39Leu)	SMAD3 (V39L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 795177	NM_005902.4(SMAD3):c.117C>T (p.Val39=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 705647	NM_005902.4(SMAD3):c.117C>G (p.Val39=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1677452	NM_005902.4(SMAD3):c.119A>G (p.Lys40Arg)	SMAD3 (K40R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910412	NM_005902.4(SMAD3):c.123A>G (p.Lys41=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2966168	NM_005902.4(SMAD3):c.126C>A (p.Leu42=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 2774508	NM_005902.4(SMAD3):c.135G>A (p.Thr45=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 477570	NM_005902.4(SMAD3):c.138del (p.Gln47fs)	SMAD3 (Q47fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 1802040	NM_005902.4(SMAD3):c.137G>A (p.Gly46Glu)	SMAD3 (G46E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1539231	NM_005902.4(SMAD3):c.138G>A (p.Gly46=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign

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