ClinVar for Gene (Select 4088) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340292	NM_005902.4(SMAD3):c.1269T>G (p.Ser423Arg)	SMAD3 (S228R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337597	NM_005902.4(SMAD3):c.785A>G (p.Asp262Gly)	SMAD3 (D113G +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337595	NM_005902.4(SMAD3):c.76C>T (p.Gln26Ter)	SMAD3 (Q26*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 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 3320630	NM_005902.4(SMAD3):c.1236C>T (p.Thr412=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3256293	NM_005902.4(SMAD3):c.803G>C (p.Arg268Pro)	SMAD3 (R119P +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 3243832	NC_000015.9:g.(?_67447886)_(67457605_?)del	SMAD3	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3243831	NC_000015.9:g.(?_67473559)_(67482874_?)dup	SMAD3	Duplication	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3243830	NC_000015.9:g.(?_67473559)_(67477222_?)dup	SMAD3	Duplication	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3243829	NC_000015.9:g.(?_67473559)_(67482874_?)del	SMAD3	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3243828	NC_000015.9:g.(?_67457213)_(67482874_?)del	SMAD3	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
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 3225166	NM_005902.4(SMAD3):c.1254C>T (p.Ser418=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	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 3166234	NM_005902.4(SMAD3):c.826A>G (p.Asn276Asp)	SMAD3 (N171D +5 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3076190	NM_005902.4(SMAD3):c.871+22_871+23insCCCCCCCCCCCCCCCC	SMAD3	Insertion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3076189	NM_005902.4(SMAD3):c.871+22_871+23insCCCCCCCCCCCCCCC	SMAD3	Insertion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 3069051	NM_005902.4(SMAD3):c.658+1G>A	SMAD3	Single nucleotide variant (splice donor variant)	Familial aortopathy	GLikely pathogenic
Select item 3063365	GRCh37/hg19 15q22.33(chr15:67476317-67499104)x3	AAGAB, SMAD3	Copy number gain	not specified	GUncertain significance
Select item 3039876	NM_005902.4(SMAD3):c.207-26787C>T	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	SMAD3-related disorder	GLikely benign
Select item 3032428	NM_005902.4(SMAD3):c.57G>A (p.Lys19=)	SMAD3	Single nucleotide variant (synonymous variant)	SMAD3-related disorder	GLikely benign
Select item 3020638	NM_005902.4(SMAD3):c.206+14C>G	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3016548	NM_005902.4(SMAD3):c.343A>G (p.Met115Val)	SMAD3 (M10V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 2998629	NM_005902.4(SMAD3):c.631C>G (p.Pro211Ala)	SMAD3 (P16A +5 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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 2986500	NM_005902.4(SMAD3):c.401-17_401-16del	SMAD3	Microsatellite (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2981117	NM_005902.4(SMAD3):c.598A>G (p.Met200Val)	SMAD3 (M156V +5 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2980471	NM_005902.4(SMAD3):c.804C>T (p.Arg268=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2978894	NM_005902.4(SMAD3):c.603C>G (p.Asp201Glu)	SMAD3 (D6E +5 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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 2977147	NM_005902.4(SMAD3):c.358G>T (p.Val120Phe)	SMAD3 (V76F +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2975563	NM_005902.4(SMAD3):c.575G>A (p.Ser192Asn)	SMAD3 (S192N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2972403	NM_005902.4(SMAD3):c.206+8C>T	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2966169	NM_005902.4(SMAD3):c.145G>C (p.Asp49His)	SMAD3 (D49H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 2966105	NM_005902.4(SMAD3):c.533-20A>G	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2960278	NM_005902.4(SMAD3):c.872-12G>A	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 +1 more	GUncertain significance
Select item 2919790	NM_005902.4(SMAD3):c.741A>G (p.Thr247=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 2919259	NM_005902.4(SMAD3):c.1006C>G (p.Pro336Ala)	SMAD3 (P287A +5 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2915158	NM_005902.4(SMAD3):c.401-4A>G	SMAD3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2912976	NM_005902.4(SMAD3):c.206+20_206+23del	SMAD3	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2912025	NM_005902.4(SMAD3):c.342T>C (p.Asn114=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2910379	NM_005902.4(SMAD3):c.1010-2A>G	SMAD3	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2907169	NM_005902.4(SMAD3):c.1087_1090del (p.Val363fs)	SMAD3 (V168fs +7 more)	Deletion (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)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance

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