ClinVar for Gene (Select 7043) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052387	NM_003239.5(TGFB3):c.804G>A (p.Lys268=)	TGFB3	Single nucleotide variant (synonymous variant)	TGFB3-related condition	GLikely benign
Select item 3031285	NM_003239.5(TGFB3):c.-23T>C	TGFB3	Single nucleotide variant (5 prime UTR variant)	TGFB3-related condition	GLikely benign
Select item 3017014	NM_003239.5(TGFB3):c.1080+14T>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 3005915	NM_003239.5(TGFB3):c.219C>T (p.Tyr73=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 3003175	NM_003239.5(TGFB3):c.1128T>C (p.Pro376=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2990388	NM_003239.5(TGFB3):c.1059T>C (p.Ser353=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2970836	NM_003239.5(TGFB3):c.646+18A>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2920313	NM_003239.5(TGFB3):c.866A>G (p.Asp289Gly)	TGFB3 (D289G)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2918931	NM_003239.5(TGFB3):c.353-14G>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2914621	NM_003239.5(TGFB3):c.714C>T (p.Ile238=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2903112	NM_003239.5(TGFB3):c.462G>T (p.Leu154Phe)	TGFB3 (L154F)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2902378	NM_003239.5(TGFB3):c.325G>T (p.Asp109Tyr)	TGFB3 (D109Y)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2899751	NM_003239.5(TGFB3):c.656T>C (p.Leu219Ser)	TGFB3 (L219S)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2892826	NM_003239.5(TGFB3):c.1173T>C (p.Tyr391=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2890097	NM_003239.5(TGFB3):c.705T>G (p.Asn235Lys)	TGFB3 (N235K)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2882409	NM_003239.5(TGFB3):c.755-18T>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2878430	NM_003239.5(TGFB3):c.1154C>T (p.Pro385Leu)	TGFB3 (P385L)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2870472	NM_003239.5(TGFB3):c.1026C>T (p.Asn342=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2862180	NM_003239.5(TGFB3):c.496_497del (p.Gln166fs)	TGFB3 (Q166fs)	Deletion (frameshift variant)	Rienhoff syndrome	GPathogenic
Select item 2841522	NM_003239.5(TGFB3):c.517-18C>G	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2840354	NM_003239.5(TGFB3):c.1081-12G>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2828176	NM_003239.5(TGFB3):c.406G>A (p.Val136Met)	TGFB3 (V136M)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2827612	NM_003239.5(TGFB3):c.352+17G>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2818463	NM_003239.5(TGFB3):c.754+11G>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2806440	NM_003239.5(TGFB3):c.496C>T (p.Gln166Ter)	TGFB3 (Q166*)	Single nucleotide variant (nonsense)	Rienhoff syndrome	GPathogenic
Select item 2794104	NM_003239.5(TGFB3):c.837C>T (p.Ile279=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2791529	NM_003239.5(TGFB3):c.590C>T (p.Ala197Val)	TGFB3 (A197V)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2783914	NM_003239.5(TGFB3):c.547C>T (p.Gln183Ter)	TGFB3 (Q183*)	Single nucleotide variant (nonsense)	Rienhoff syndrome	GPathogenic
Select item 2781617	NM_003239.5(TGFB3):c.646+16A>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2779764	NM_003239.5(TGFB3):c.66C>T (p.Leu22=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2777355	NM_003239.5(TGFB3):c.472A>G (p.Asn158Asp)	TGFB3 (N158D)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2765877	NM_003239.5(TGFB3):c.1237T>C (p.Ter413Arg)	TGFB3	Single nucleotide variant (stop lost)	Rienhoff syndrome	GUncertain significance
Select item 2760768	NM_003239.5(TGFB3):c.716T>C (p.Leu239Pro)	TGFB3 (L239P)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2757875	NM_003239.5(TGFB3):c.755-10C>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2757292	NM_003239.5(TGFB3):c.1006C>T (p.Pro336Ser)	TGFB3 (P336S)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2756183	NM_003239.5(TGFB3):c.641G>A (p.Arg214Lys)	TGFB3 (R214K)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2751751	NM_003239.5(TGFB3):c.516+1G>T	TGFB3	Single nucleotide variant (splice donor variant)	Rienhoff syndrome	GPathogenic
Select item 2745762	NM_003239.5(TGFB3):c.1101T>G (p.Thr367=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2742041	NM_003239.5(TGFB3):c.926+12C>T	TGFB3	Single nucleotide variant (3 prime UTR variant +1 more)	Rienhoff syndrome	GLikely benign
Select item 2737596	NM_003239.5(TGFB3):c.353-19G>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2736130	NM_003239.5(TGFB3):c.1202T>C (p.Leu401Pro)	TGFB3 (L401P)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GLikely pathogenic
Select item 2732645	NM_003239.5(TGFB3):c.43C>T (p.Leu15=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2728618	NM_003239.5(TGFB3):c.951G>A (p.Val317=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2726177	NM_003239.5(TGFB3):c.927-14G>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2720514	NM_003239.5(TGFB3):c.934G>A (p.Glu312Lys)	TGFB3 (E312K)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2716547	NM_003239.5(TGFB3):c.647A>G (p.Glu216Gly)	TGFB3 (E216G)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2702561	NM_003239.5(TGFB3):c.1236C>G (p.Ser412Arg)	TGFB3 (S412R)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2699309	NM_003239.5(TGFB3):c.985G>C (p.Gly329Arg)	TGFB3 (G329R)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2695962	NM_003239.5(TGFB3):c.926+19_926+30del	TGFB3	Deletion (3 prime UTR variant +1 more)	Rienhoff syndrome	GLikely benign
Select item 2695571	NM_003239.5(TGFB3):c.1081G>T (p.Val361Leu)	TGFB3 (V361L)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2692487	NM_003239.5(TGFB3):c.884del (p.Gly295fs)	TGFB3 (G295fs)	Deletion (frameshift variant)	Rienhoff syndrome +1 more	GLikely pathogenic
Select item 2691035	NM_003239.5(TGFB3):c.696dup (p.Gln233fs)	TGFB3 (Q233fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2683270	NM_003239.5(TGFB3):c.43C>A (p.Leu15Met)	TGFB3 (L15M)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 2662498	NM_003239.5(TGFB3):c.23C>T (p.Ala8Val)	TGFB3 (A8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633286	NM_003239.5(TGFB3):c.22G>A (p.Ala8Thr)	TGFB3 (A8T)	Single nucleotide variant (missense variant)	TGFB3-related condition	GUncertain significance
Select item 2633197	NM_003239.5(TGFB3):c.1162A>T (p.Ile388Phe)	TGFB3 (I388F)	Single nucleotide variant (missense variant)	TGFB3-related condition	GUncertain significance
Select item 2632539	NM_003239.5(TGFB3):c.685T>C (p.Cys229Arg)	TGFB3 (C229R)	Single nucleotide variant (missense variant)	TGFB3-related condition	GUncertain significance
Select item 2631124	NM_003239.5(TGFB3):c.156del (p.Arg52fs)	TGFB3 (R52fs)	Deletion (frameshift variant)	TGFB3-related condition	GLikely pathogenic
Select item 2630839	NM_003239.5(TGFB3):c.202C>T (p.Gln68Ter)	TGFB3 (Q68*)	Single nucleotide variant (nonsense)	TGFB3-related condition	GLikely pathogenic
Select item 2630819	NM_003239.5(TGFB3):c.190C>G (p.His64Asp)	TGFB3 (H64D)	Single nucleotide variant (missense variant)	TGFB3-related condition	GUncertain significance
Select item 2630779	NM_003239.5(TGFB3):c.1191A>T (p.Lys397Asn)	TGFB3 (K397N)	Single nucleotide variant (missense variant)	TGFB3-related condition	GUncertain significance
Select item 2603869	NM_003239.5(TGFB3):c.527C>T (p.Pro176Leu)	TGFB3 (P176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2586726	NM_003239.5(TGFB3):c.133G>A (p.Gly45Arg)	TGFB3 (G45R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2586725	NM_003239.5(TGFB3):c.548A>G (p.Gln183Arg)	TGFB3 (Q183R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2586724	NM_003239.5(TGFB3):c.436C>A (p.Leu146Ile)	TGFB3 (L146I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2582633	NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)	TGFB3 (V333I)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 2581684	NM_003239.5(TGFB3):c.876C>T (p.Gly292=)	TGFB3	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2577388	NM_003239.5(TGFB3):c.1221G>A (p.Lys407=)	TGFB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2575040	NM_003239.5(TGFB3):c.1034C>T (p.Ser345Leu)	TGFB3 (S345L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574023	NM_003239.5(TGFB3):c.911C>A (p.Thr304Asn)	TGFB3 (T304N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2566623	NM_003239.5(TGFB3):c.459C>T (p.Val153=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2566622	NM_003239.5(TGFB3):c.778G>A (p.Gly260Ser)	TGFB3 (G260S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2566620	NM_003239.5(TGFB3):c.1203C>G (p.Leu401=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2566619	NM_003239.5(TGFB3):c.57G>A (p.Thr19=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome +1 more	GLikely benign
Select item 2501141	NM_003239.5(TGFB3):c.883G>A (p.Gly295Ser)	TGFB3 (G295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500099	NM_003239.5(TGFB3):c.352+124C>G	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 2452148	NM_003239.5(TGFB3):c.1150G>C (p.Glu384Gln)	TGFB3 (E384Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2452147	NM_003239.5(TGFB3):c.200A>G (p.Tyr67Cys)	TGFB3 (Y67C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2452146	NM_003239.5(TGFB3):c.764A>G (p.Asn255Ser)	TGFB3 (N255S)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2444603	NM_003239.5(TGFB3):c.428G>C (p.Arg143Thr)	TGFB3 (R143T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429654	NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)	TGFB3 (T395N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2429625	NM_003239.5(TGFB3):c.896A>C (p.Lys299Thr)	TGFB3 (K299T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427154	NC_000014.8:g.(?_76429639)_(76455340_?)dup	IFT43, TGFB3	Duplication	not provided	GUncertain significance
Select item 2427153	NC_000014.8:g.(?_76420747)_(76455340_?)del	IFT43, TGFB3 +1 more	Deletion	not provided	GPathogenic
Select item 2424660	NC_000014.8:g.(?_76425530)_(76432058_?)dup	TGFB3	Duplication	Rienhoff syndrome	GUncertain significance
Select item 2389199	NM_003239.5(TGFB3):c.760G>T (p.Asp254Tyr)	TGFB3 (D254Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267451	NM_003239.5(TGFB3):c.809A>G (p.Gln270Arg)	TGFB3 (Q270R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2178440	NM_003239.5(TGFB3):c.523C>T (p.Arg175Trp)	TGFB3 (R175W)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2161070	NM_003239.5(TGFB3):c.864C>T (p.Leu288=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2150165	NM_003239.5(TGFB3):c.592G>A (p.Glu198Lys)	TGFB3 (E198K)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2149468	NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys)	TGFB3 (F17C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2146862	NM_003239.5(TGFB3):c.171T>G (p.Pro57=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2143737	NM_003239.5(TGFB3):c.352+13T>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2141903	NM_003239.5(TGFB3):c.644G>C (p.Arg215Thr)	TGFB3 (R215T)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2138172	NM_003239.5(TGFB3):c.427A>T (p.Arg143Ter)	TGFB3 (R143*)	Single nucleotide variant (nonsense)	Rienhoff syndrome	GPathogenic
Select item 2131930	NM_003239.5(TGFB3):c.300C>T (p.Tyr100=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2126250	NM_003239.5(TGFB3):c.638del (p.Leu212_Leu213insTer)	TGFB3	Deletion (nonsense)	Rienhoff syndrome	GPathogenic
Select item 2124848	NM_003239.5(TGFB3):c.162C>T (p.Thr54=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign

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