C3151087[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 139216	NM_005902.4(SMAD3):c.-15G>A	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
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 213757	NM_005902.4(SMAD3):c.66G>A (p.Glu22=)	SMAD3	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +4 more	GBenign/Likely 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 426202	NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys)	SMAD3 (R90C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 139217	NM_005902.4(SMAD3):c.309A>G (p.Leu103=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign
Select item 316860	NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser)	SMAD3 (N114S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 213783	NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln)	SMAD3 (P152Q +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 213758	NM_005902.4(SMAD3):c.457C>T (p.Leu153=)	SMAD3	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +4 more	GBenign/Likely benign
Select item 139212	NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)	SMAD3 (I170V +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 316861	NM_005902.4(SMAD3):c.607+9T>A	SMAD3	Single nucleotide variant (intron variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 139213	NM_005902.4(SMAD3):c.870C>T (p.Ile290=)	SMAD3	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 198533	NM_005902.4(SMAD3):c.885G>A (p.Arg295=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 316862	NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe)	SMAD3 (L308F +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +2 more	GUncertain significance
Select item 240273	NM_005902.4(SMAD3):c.984G>A (p.Pro328=)	SMAD3	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +4 more	GConflicting classifications of pathogenicity
Select item 700083	NM_005902.4(SMAD3):c.1059C>A (p.Ala353=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 264036	NM_005902.4(SMAD3):c.1102C>A (p.Arg368=)	SMAD3	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 444347	NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys)	SMAD3 (R420C +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 885694	NM_005902.4(SMAD3):c.*30C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 316867	NM_005902.4(SMAD3):c.*250C>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 316871	NM_005902.4(SMAD3):c.*304C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 316873	NM_005902.4(SMAD3):c.*402C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GBenign
Select item 316877	NM_005902.4(SMAD3):c.*552G>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 316876	NM_005902.4(SMAD3):c.*552G>C	SMAD3	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 884817	NM_005902.4(SMAD3):c.*594C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 316881	NM_005902.4(SMAD3):c.*626C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 316887	NM_005902.4(SMAD3):c.*789A>G	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 316888	NM_005902.4(SMAD3):c.*798G>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 885747	NM_005902.4(SMAD3):c.*804C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 885748	NM_005902.4(SMAD3):c.*805G>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 316890	NM_005902.4(SMAD3):c.*925G>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 885749	NM_005902.4(SMAD3):c.*937T>C	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 316892	NM_005902.4(SMAD3):c.*1105G>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GBenign
Select item 885750	NM_005902.4(SMAD3):c.*1159A>G	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 316896	NM_005902.4(SMAD3):c.*1245G>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GBenign
Select item 316898	NM_005902.4(SMAD3):c.*1315C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 888024	NM_005902.4(SMAD3):c.*1316G>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 316900	NM_005902.4(SMAD3):c.*1326A>G	SMAD3	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 316902	NM_005902.4(SMAD3):c.*1423C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +1 more	GBenign
Select item 888025	NM_005902.4(SMAD3):c.*1455G>C	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 884897	NM_005902.4(SMAD3):c.*1561A>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 884898	NM_005902.4(SMAD3):c.*1583T>G	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 316907	NM_005902.4(SMAD3):c.*1597G>C	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 316909	NM_005902.4(SMAD3):c.*1641T>G	SMAD3	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 316913	NM_005902.4(SMAD3):c.*1767G>C	SMAD3	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 316916	NM_005902.4(SMAD3):c.*1790G>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +1 more	GConflicting classifications of pathogenicity
Select item 316919	NM_005902.4(SMAD3):c.*1819C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 885819	NM_005902.4(SMAD3):c.*1915G>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 316926	NM_005902.4(SMAD3):c.*2028T>C	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 316928	NM_005902.4(SMAD3):c.*2046T>C	SMAD3	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 316929	NM_005902.4(SMAD3):c.*2227G>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 316934	NM_005902.4(SMAD3):c.*2282C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +2 more	GBenign
Select item 316935	NM_005902.4(SMAD3):c.*2285G>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 316937	NM_005902.4(SMAD3):c.*2303G>C	SMAD3	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 316938	NM_005902.4(SMAD3):c.*2403C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 316939	NM_005902.4(SMAD3):c.*2444A>G	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 316941	NM_005902.4(SMAD3):c.*2476A>C	SMAD3	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 316942	NM_005902.4(SMAD3):c.*2547C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 884972	NM_005902.4(SMAD3):c.*2786T>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 316947	NM_005902.4(SMAD3):c.*2793C>T	SMAD3	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +1 more	GBenign
Select item 316950	NM_005902.4(SMAD3):c.*2995G>A	SMAD3	Single nucleotide variant (3 prime UTR variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign

ClinVar

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Items: 71