"Color Diagnostics, LLC DBA Color Health"[submitter] AND "SMAD3"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 220

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Familial thoracic aortic aneurysm and aortic dissection +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 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 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 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 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 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 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)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
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 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 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 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 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 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 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)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
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 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 926137	NM_005902.4(SMAD3):c.145G>T (p.Asp49Tyr)	SMAD3 (D49Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1171657	NM_005902.4(SMAD3):c.147C>T (p.Asp49=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 925884	NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys)	SMAD3 (T57K)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 373708	NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp)	SMAD3 (N59D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 926025	NM_005902.4(SMAD3):c.195C>T (p.Ile65=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +2 more	GLikely benign
Select item 1171693	NM_005902.4(SMAD3):c.198C>A (p.Thr66=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 378620	NM_005902.4(SMAD3):c.207-13C>T	SMAD3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 390133	NM_005902.4(SMAD3):c.207-11C>T	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 284209	NM_005902.4(SMAD3):c.207-10G>A	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GConflicting classifications of pathogenicity
Select item 517857	NM_005902.4(SMAD3):c.207-4G>A	SMAD3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 580639	NM_005902.4(SMAD3):c.207-3C>A	SMAD3	Single nucleotide variant (intron variant)	Aneurysm-osteoarthritis syndrome +1 more	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 502012	NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)	SMAD3 (R74W +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 926082	NM_005902.4(SMAD3):c.228G>A (p.Gln76=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 925495	NM_005902.4(SMAD3):c.249C>T (p.Leu83=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 766471	NM_005902.4(SMAD3):c.261C>T (p.Ile87=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 213781	NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter)	SMAD3 (R93* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 927934	NM_005902.4(SMAD3):c.292C>T (p.His98Tyr)	SMAD3 (H54Y +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 1332493	NM_005902.4(SMAD3):c.309_311delinsGCA (p.Arg104Gln)	SMAD3 (R104Q +1 more)	Indel (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 923049	NM_005902.4(SMAD3):c.309_310inv (p.Arg104Trp)	SMAD3 (R104W +1 more)	Inversion (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign
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)	SMAD3-related disorder +2 more	GLikely benign
Select item 1171089	NM_005902.4(SMAD3):c.322C>A (p.Leu108Met)	SMAD3 (L108M +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 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 871072	NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr)	SMAD3 (A112T +2 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +2 more	GUncertain significance
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 316860	NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser)	SMAD3 (N114S +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +3 more	GUncertain significance
Select item 925550	NM_005902.4(SMAD3):c.354C>T (p.Asp118=)	SMAD3	Single nucleotide variant (synonymous variant)	SMAD3-related disorder +2 more	GLikely benign
Select item 918860	NM_005902.4(SMAD3):c.355G>A (p.Glu119Lys)	SMAD3 (E119K +2 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
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 629808	NM_005902.4(SMAD3):c.372C>A (p.Pro124=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GBenign/Likely benign
Select item 918862	NM_005902.4(SMAD3):c.384G>C (p.Gln128His)	SMAD3 (Q128H +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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)	not specified +2 more	GUncertain significance
Select item 1332659	NM_005902.4(SMAD3):c.401-11C>A	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 1332310	NM_005902.4(SMAD3):c.401-10C>T	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 698660	NM_005902.4(SMAD3):c.401-7C>T	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 213804	NM_005902.4(SMAD3):c.401T>C (p.Val134Ala)	SMAD3 (V134A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 918287	NM_005902.4(SMAD3):c.408T>C (p.Pro136=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
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 925560	NM_005902.4(SMAD3):c.424C>T (p.Arg142Cys)	SMAD3 (R142C +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
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 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)	Familial thoracic aortic aneurysm and aortic dissection +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 918865	NM_005902.4(SMAD3):c.445G>A (p.Glu149Lys)	SMAD3 (E149K +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1331789	NM_005902.4(SMAD3):c.447G>A (p.Glu149=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 838401	NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu)	SMAD3 (F106L +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 213783	NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln)	SMAD3 (P152Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 213758	NM_005902.4(SMAD3):c.457C>T (p.Leu153=)	SMAD3	Single nucleotide variant (synonymous variant)	not specified +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 630585	NM_005902.4(SMAD3):c.480C>A (p.Ile160=)	SMAD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 753702	NM_005902.4(SMAD3):c.483C>A (p.Pro161=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 387889	NM_005902.4(SMAD3):c.483C>T (p.Pro161=)	SMAD3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 919729	NM_005902.4(SMAD3):c.490A>T (p.Thr164Ser)	SMAD3 (T59S +2 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
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 provided +3 more	GLikely benign
Select item 213784	NM_005902.4(SMAD3):c.502G>A (p.Ala168Thr)	SMAD3 (A168T +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 139212	NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)	SMAD3 (I170V +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +4 more	GBenign/Likely benign
Select item 390771	NM_005902.4(SMAD3):c.510C>T (p.Ile170=)	SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +2 more	GLikely benign
Select item 922198	NM_005902.4(SMAD3):c.516C>T (p.Pro172=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 923574	NM_005902.4(SMAD3):c.532+5G>T	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 920220	NM_005902.4(SMAD3):c.533-13_533-10del	SMAD3	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2774509	NM_005902.4(SMAD3):c.533-3C>T	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1171270	NM_005902.4(SMAD3):c.534G>A (p.Glu178=)	SMAD3	Single nucleotide variant (synonymous variant +1 more)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 922503	NM_005902.4(SMAD3):c.537C>T (p.Thr179=)	SMAD3	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 927640	NM_005902.4(SMAD3):c.546del (p.Gly183fs)	SMAD3 (G183fs +2 more)	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 919966	NM_005902.4(SMAD3):c.564T>C (p.Asp188=)	SMAD3	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 922480	NM_005902.4(SMAD3):c.575G>C (p.Ser192Thr)	SMAD3 (S192T +2 more)	Single nucleotide variant (missense variant +1 more)	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)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 921870	NM_005902.4(SMAD3):c.602A>G (p.Asp201Gly)	SMAD3 (D201G +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
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

<< First< Prev

Page of 3