C3810012[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 663430	NC_000014.9:g.(?_75958692)_(75971728_?)del	LOC130056139, TGFB3	Deletion	Rienhoff syndrome	GLikely pathogenic
Select item 12475	NM_003239.5(TGFB3):c.*495C>T	TGFB3	Single nucleotide variant (3 prime UTR variant)	TGFB3-related condition +1 more	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 2702561	NM_003239.5(TGFB3):c.1236C>G (p.Ser412Arg)	TGFB3 (S412R)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 1079994	NM_003239.5(TGFB3):c.1236C>T (p.Ser412=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 314447	NM_003239.5(TGFB3):c.1230A>G (p.Lys410=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome +1 more	GLikely benign
Select item 1753275	NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)	TGFB3 (K407N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 857481	NM_003239.5(TGFB3):c.1219A>T (p.Lys407Ter)	TGFB3 (K407*)	Single nucleotide variant (nonsense)	Rienhoff syndrome	GPathogenic
Select item 640810	NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)	TGFB3 (K407E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 2040910	NM_003239.5(TGFB3):c.1213GTG[1] (p.Val406del)	TGFB3 (V406del)	Microsatellite (inframe_deletion)	Rienhoff syndrome	GUncertain significance
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 1148582	NM_003239.5(TGFB3):c.1194G>A (p.Val398=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 477633	NM_003239.5(TGFB3):c.1186C>T (p.Pro396Ser)	TGFB3 (P396S)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 520203	NM_003239.5(TGFB3):c.1185C>T (p.Thr395=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
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 1483314	NM_003239.5(TGFB3):c.1183A>G (p.Thr395Ala)	TGFB3 (T395A)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 579242	NM_003239.5(TGFB3):c.1183A>C (p.Thr395Pro)	TGFB3 (T395P)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 1742585	NM_003239.5(TGFB3):c.1182G>A (p.Arg394=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome +1 more	GLikely benign
Select item 477632	NM_003239.5(TGFB3):c.1179G>A (p.Gly393=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome +1 more	GLikely benign
Select item 1800799	NM_003239.5(TGFB3):c.1177G>A (p.Gly393Arg)	TGFB3 (G393R)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 1057432	NM_003239.5(TGFB3):c.1175T>C (p.Val392Ala)	TGFB3 (V392A)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 1019171	NM_003239.5(TGFB3):c.1175T>A (p.Val392Asp)	TGFB3 (V392D)	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 450035	NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)	TGFB3 (Y390F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 477631	NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly)	TGFB3 (E384G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1407846	NM_003239.5(TGFB3):c.1150G>A (p.Glu384Lys)	TGFB3 (E384K)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 477630	NM_003239.5(TGFB3):c.1149G>A (p.Leu383=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 520210	NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)	TGFB3 (P380S)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 1630463	NM_003239.5(TGFB3):c.1137G>A (p.Val379=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 1002073	NM_003239.5(TGFB3):c.1135G>A (p.Val379Met)	TGFB3 (V379M)	Single nucleotide variant (missense variant)	TGFB3-related condition +3 more	GUncertain significance
Select item 696396	NM_003239.5(TGFB3):c.1134C>T (p.Cys378=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 410275	NM_003239.5(TGFB3):c.1130G>A (p.Cys377Tyr)	TGFB3 (C377Y)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 3003175	NM_003239.5(TGFB3):c.1128T>C (p.Pro376=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 963023	NM_003239.5(TGFB3):c.1127C>T (p.Pro376Leu)	TGFB3 (P376L)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2075959	NM_003239.5(TGFB3):c.1125G>A (p.Ser375=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 836665	NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu)	TGFB3 (S375L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 239516	NM_003239.5(TGFB3):c.1122C>G (p.Ala374=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome +3 more	GBenign
Select item 520206	NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)	TGFB3 (L368fs)	Deletion (frameshift variant)	Rienhoff syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2745762	NM_003239.5(TGFB3):c.1101T>G (p.Thr367=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 763648	NM_003239.5(TGFB3):c.1083G>T (p.Val361=)	TGFB3	Single nucleotide variant (synonymous variant)	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 2106087	NM_003239.5(TGFB3):c.1081-1G>A	TGFB3	Single nucleotide variant (splice acceptor variant)	Rienhoff syndrome	GLikely pathogenic
Select item 1641642	NM_003239.5(TGFB3):c.1081-8C>G	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 1610105	NM_003239.5(TGFB3):c.1081-8C>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2121887	NM_003239.5(TGFB3):c.1081-10C>A	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 314448	NM_003239.5(TGFB3):c.1081-14A>G	TGFB3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3017014	NM_003239.5(TGFB3):c.1080+14T>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 568400	NM_003239.5(TGFB3):c.1080G>A (p.Thr360=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome +2 more	GConflicting classifications of pathogenicity
Select item 393074	NM_003239.5(TGFB3):c.1079C>T (p.Thr360Met)	TGFB3 (T360M)	Single nucleotide variant (missense variant)	Rienhoff syndrome +2 more	GUncertain significance
Select item 1433598	NM_003239.5(TGFB3):c.1076G>C (p.Ser359Thr)	TGFB3 (S359T)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 1631138	NM_003239.5(TGFB3):c.1074C>T (p.His358=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2055002	NM_003239.5(TGFB3):c.1065C>T (p.Asp355=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 1021549	NM_003239.5(TGFB3):c.1063_1064del (p.Asp355fs)	TGFB3 (D355fs)	Deletion (frameshift variant)	Rienhoff syndrome	GUncertain significance
Select item 840650	NM_003239.5(TGFB3):c.1064A>G (p.Asp355Gly)	TGFB3 (D355G)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2990388	NM_003239.5(TGFB3):c.1059T>C (p.Ser353=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 520205	NM_003239.5(TGFB3):c.1055G>A (p.Arg352His)	TGFB3 (R352H)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 543956	NM_003239.5(TGFB3):c.1054C>T (p.Arg352Cys)	TGFB3 (R352C)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 1142282	NM_003239.5(TGFB3):c.1050C>T (p.Tyr350=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 639363	NM_003239.5(TGFB3):c.1048T>A (p.Tyr350Asn)	TGFB3 (Y350N)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 1465026	NM_003239.5(TGFB3):c.1040C>T (p.Pro347Leu)	TGFB3 (P347L)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 410269	NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)	TGFB3 (S345*)	Single nucleotide variant (nonsense)	Rienhoff syndrome +4 more	GPathogenic/Likely pathogenic
Select item 2870472	NM_003239.5(TGFB3):c.1026C>T (p.Asn342=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 1528070	NM_003239.5(TGFB3):c.1023C>T (p.Ala341=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	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 569656	NM_003239.5(TGFB3):c.1001A>G (p.His334Arg)	TGFB3 (H334R)	Single nucleotide variant (missense variant)	Rienhoff syndrome +2 more	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 1369504	NM_003239.5(TGFB3):c.996G>A (p.Trp332Ter)	TGFB3 (W332*)	Single nucleotide variant (nonsense)	Rienhoff syndrome	GPathogenic
Select item 1072149	NM_003239.5(TGFB3):c.990G>A (p.Trp330Ter)	TGFB3 (W330*)	Single nucleotide variant (nonsense)	Rienhoff syndrome	GPathogenic
Select item 477652	NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter)	TGFB3 (W330*)	Single nucleotide variant (nonsense)	Rienhoff syndrome	GPathogenic
Select item 642661	NM_003239.5(TGFB3):c.986G>C (p.Gly329Ala)	TGFB3 (G329A)	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 1039183	NM_003239.5(TGFB3):c.985G>T (p.Gly329Cys)	TGFB3 (G329C)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 373171	NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln)	TGFB3 (R325Q)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GUncertain significance
Select item 1918933	NM_003239.5(TGFB3):c.973C>A (p.Arg325=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 477651	NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter)	TGFB3 (R325*)	Single nucleotide variant (nonsense)	Rienhoff syndrome +2 more	GPathogenic/Likely pathogenic
Select item 410276	NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr)	TGFB3 (I322T)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GConflicting classifications of pathogenicity
Select item 509913	NM_003239.5(TGFB3):c.957C>T (p.Pro319=)	TGFB3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 662454	NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu)	TGFB3 (P319L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1546613	NM_003239.5(TGFB3):c.954C>T (p.Arg318=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 1767311	NM_003239.5(TGFB3):c.953G>A (p.Arg318His)	TGFB3 (R318H)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 1053757	NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys)	TGFB3 (R318C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 2728618	NM_003239.5(TGFB3):c.951G>A (p.Val317=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 477649	NM_003239.5(TGFB3):c.948T>C (p.Cys316=)	TGFB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1006582	NM_003239.5(TGFB3):c.946T>C (p.Cys316Arg)	TGFB3 (C316R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 477648	NM_003239.5(TGFB3):c.934GAG[1] (p.Glu313del)	TGFB3 (E313del)	Microsatellite (inframe_deletion)	Rienhoff syndrome	GUncertain significance
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 1026727	NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr)	TGFB3 (N310T)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 487471	NM_003239.5(TGFB3):c.927-1G>C	TGFB3	Single nucleotide variant (splice acceptor variant)	Rienhoff syndrome +1 more	GLikely pathogenic
Select item 1081911	NM_003239.5(TGFB3):c.927-4G>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2120574	NM_003239.5(TGFB3):c.927-6T>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 477647	NM_003239.5(TGFB3):c.927-6T>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GUncertain significance
Select item 1170900	NM_003239.5(TGFB3):c.927-13dup	TGFB3	Duplication (intron variant)	Rienhoff syndrome	GBenign
Select item 1114713	NM_003239.5(TGFB3):c.927-7G>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 1510554	NM_003239.5(TGFB3):c.927-10T>G	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GUncertain significance
Select item 2726177	NM_003239.5(TGFB3):c.927-14G>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2067533	NM_003239.5(TGFB3):c.927-15T>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 682160	NM_003239.5(TGFB3):c.927-19T>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome +1 more	GLikely benign
Select item 509964	NM_003239.5(TGFB3):c.927-20A>G	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome +1 more	GBenign/Likely benign

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