"Ambry Genetics"[submitter] AND "TGFBR1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379554	NM_004612.4(TGFBR1):c.-4G>A	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 626771	NM_004612.4(TGFBR1):c.-3A>G	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 193288	NM_004612.4(TGFBR1):c.-2C>T	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 2586598	NM_004612.4(TGFBR1):c.14T>C (p.Val5Ala)	LOC130002223, TGFBR1 (V5A)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2235730	NM_004612.4(TGFBR1):c.14T>G (p.Val5Gly)	LOC130002223, TGFBR1 (V5G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566477	NM_004612.4(TGFBR1):c.28C>T (p.Pro10Ser)	LOC130002223, TGFBR1 (P10S)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 263928	NM_004612.4(TGFBR1):c.32G>C (p.Arg11Pro)	LOC130002223, TGFBR1 (R11P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1596434	NM_004612.4(TGFBR1):c.42C>T (p.Leu14=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1741792	NM_004612.4(TGFBR1):c.45C>T (p.Leu15=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 477556	NM_004612.4(TGFBR1):c.46G>A (p.Val16Met)	TGFBR1 (V16M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 239962	NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)	TGFBR1	Single nucleotide variant (synonymous variant)	TGFBR1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 496264	NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup)	TGFBR1	Microsatellite (inframe_insertion)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 408570	NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup)	TGFBR1	Microsatellite (inframe_insertion)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 213864	NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)	TGFBR1	Microsatellite (inframe_insertion)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 516727	NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 496263	NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 263873	NM_004612.4(TGFBR1):c.52GCG[7] (p.Ala25_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	TGFBR1-related condition +2 more	GBenign/Likely benign
Select item 213863	NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del)	TGFBR1 (A26del)	Microsatellite (inframe_deletion)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 165381	NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 1396060	NM_004612.4(TGFBR1):c.52G>A (p.Ala18Thr)	TGFBR1 (A18T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 444775	NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val)	TGFBR1 (A21V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1754983	NM_004612.4(TGFBR1):c.66G>A (p.Ala22=)	TGFBR1	Single nucleotide variant (intron variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 263391	NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs)	TGFBR1 (A24fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 641375	NM_004612.4(TGFBR1):c.71C>T (p.Ala24Val)	TGFBR1 (A24V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 543911	NM_004612.4(TGFBR1):c.87G>C (p.Pro29=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 477565	NM_004612.4(TGFBR1):c.89G>T (p.Gly30Val)	TGFBR1 (G30V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 664481	NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala)	TGFBR1 (T32A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 520229	NM_004612.4(TGFBR1):c.98C>T (p.Ala33Val)	TGFBR1 (A33V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 477566	NM_004612.4(TGFBR1):c.99G>A (p.Ala33=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 178135	NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 1330859	NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp)	TGFBR1 (E60D)	Single nucleotide variant (missense variant)	TGFBR1-related condition +3 more	GUncertain significance
Select item 282059	NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg)	TGFBR1 (K64R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 213853	NM_004612.4(TGFBR1):c.192A>G (p.Lys64=)	TGFBR1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 618428	NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)	TGFBR1 (H67Y)	Single nucleotide variant (missense variant)	Multiple self-healing squamous epithelioma +5 more	GConflicting classifications of pathogenicity
Select item 213865	NM_004612.4(TGFBR1):c.207C>T (p.Ser69=)	TGFBR1	Single nucleotide variant (synonymous variant)	TGFBR1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 178136	NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)	TGFBR1 (I72L)	Single nucleotide variant (missense variant)	TGFBR1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 520223	NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter)	TGFBR1 (L77*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 1171540	NM_004612.4(TGFBR1):c.239G>A (p.Arg80Gln)	TGFBR1 (R80Q)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 263584	NM_004612.4(TGFBR1):c.282T>C (p.Ser94=)	TGFBR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 520228	NM_004612.4(TGFBR1):c.290C>A (p.Thr97Lys)	TGFBR1 (T97K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 543898	NM_004612.4(TGFBR1):c.304A>G (p.Asn102Asp)	TGFBR1 (N102D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1405996	NM_004612.4(TGFBR1):c.307C>G (p.Gln103Glu)	TGFBR1 (Q103E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 213854	NM_004612.4(TGFBR1):c.343+3A>G	TGFBR1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2451990	NM_004612.4(TGFBR1):c.355C>T (p.Pro119Ser)	TGFBR1 (P37S +4 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 520222	NM_004612.4(TGFBR1):c.367C>T (p.Pro123Ser)	TGFBR1 (P123S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 924183	NM_004612.4(TGFBR1):c.398C>T (p.Pro133Leu)	TGFBR1 (P133L +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 213866	NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile)	TGFBR1 (V137I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 177810	NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)	TGFBR1 (I139V +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome +4 more	GConflicting classifications of pathogenicity
Select item 391489	NM_004612.4(TGFBR1):c.419C>T (p.Ser140Leu)	TGFBR1 (S140L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 520224	NM_004612.4(TGFBR1):c.424A>G (p.Met142Val)	TGFBR1 (M142V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 213868	NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)	TGFBR1 (V153I +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple self-healing squamous epithelioma +6 more	GBenign/Likely benign
Select item 1741866	NM_004612.4(TGFBR1):c.460A>G (p.Ile154Val)	TGFBR1 (I85V +4 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 925578	NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro)	TGFBR1 (R157P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 364098	NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser)	TGFBR1 (N160S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 918562	NM_004612.4(TGFBR1):c.495A>G (p.Ser165=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 633011	NM_004612.4(TGFBR1):c.503G>A (p.Arg168His)	TGFBR1 (R168H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1081254	NM_004612.4(TGFBR1):c.516A>G (p.Ser172=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome +5 more	GConflicting classifications of pathogenicity
Select item 45097	NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	TGFBR1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 520227	NM_004612.4(TGFBR1):c.563G>T (p.Gly188Val)	TGFBR1 (G188V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2566476	NM_004612.4(TGFBR1):c.572C>T (p.Ser191Leu)	TGFBR1 (S122L +4 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1749478	NM_004612.4(TGFBR1):c.575G>T (p.Gly192Val)	TGFBR1 (G115V +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 263978	NM_004612.4(TGFBR1):c.587T>G (p.Leu196Arg)	TGFBR1 (L196R +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 264166	NM_004612.4(TGFBR1):c.611C>T (p.Thr204Ile)	TGFBR1 (T204I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 213899	NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val)	TGFBR1 (I205V +2 more)	Single nucleotide variant (missense variant)	Multiple self-healing squamous epithelioma +4 more	GUncertain significance
Select item 1751956	NM_004612.4(TGFBR1):c.615T>G (p.Ile205Met)	TGFBR1 (I205M +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 390105	NM_004612.4(TGFBR1):c.618G>T (p.Val206=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +2 more	GLikely benign
Select item 520221	NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup)	TGFBR1	Duplication (inframe_insertion)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 1754241	NM_004612.4(TGFBR1):c.656T>G (p.Val219Gly)	TGFBR1 (V142G +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1754355	NM_004612.4(TGFBR1):c.658T>G (p.Trp220Gly)	TGFBR1 (W143G +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 364100	NM_004612.4(TGFBR1):c.666A>G (p.Gly222=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 213896	NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del)	TGFBR1 (E228del +2 more)	Microsatellite (inframe_deletion)	Loeys-Dietz syndrome +2 more	GPathogenic
Select item 408566	NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys)	TGFBR1 (E227K +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 919073	NM_004612.4(TGFBR1):c.702C>T (p.Phe234=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 213897	NM_004612.4(TGFBR1):c.702CTC[1] (p.Ser236del)	TGFBR1 (S236del +2 more)	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 741849	NM_004612.4(TGFBR1):c.705C>G (p.Ser235=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 213875	NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe)	TGFBR1 (S236F +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 921513	NM_004612.4(TGFBR1):c.714A>C (p.Glu238Asp)	TGFBR1 (E238D +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1307725	NM_004612.4(TGFBR1):c.716A>G (p.Glu239Gly)	TGFBR1 (E162G +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 810398	NM_004612.4(TGFBR1):c.720T>C (p.Arg240=)	TGFBR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 12524	NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	TGFBR1 (S241L +2 more)	Single nucleotide variant (missense variant)	Marfan syndrome +5 more	GPathogenic/Likely pathogenic
Select item 391327	NM_004612.4(TGFBR1):c.723G>A (p.Ser241=)	TGFBR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 263773	NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)	TGFBR1 (M253V +2 more)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1759703	NM_004612.4(TGFBR1):c.759G>A (p.Met253Ile)	TGFBR1 (M171I +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 1759794	NM_004612.4(TGFBR1):c.760T>C (p.Leu254=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 477561	NM_004612.4(TGFBR1):c.767A>G (p.His256Arg)	TGFBR1 (H256R +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1760150	NM_004612.4(TGFBR1):c.768T>C (p.His256=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2451992	NM_004612.4(TGFBR1):c.775A>G (p.Ile259Val)	TGFBR1 (I100V +6 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1677745	NM_004612.4(TGFBR1):c.782G>A (p.Gly261Glu)	TGFBR1 (G184E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1761183	NM_004612.4(TGFBR1):c.790G>A (p.Ala264Thr)	TGFBR1 (A182T +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1761220	NM_004612.4(TGFBR1):c.791C>T (p.Ala264Val)	TGFBR1 (A187V +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 520220	NM_004612.4(TGFBR1):c.809A>G (p.Asn270Ser)	TGFBR1 (N270S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 415028	NM_004612.4(TGFBR1):c.810T>C (p.Asn270=)	TGFBR1	Single nucleotide variant (synonymous variant)	TGFBR1-related condition +3 more	GBenign/Likely benign
Select item 919145	NM_004612.4(TGFBR1):c.813T>C (p.Gly271=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +3 more	GLikely benign
Select item 264407	NM_004612.4(TGFBR1):c.835G>C (p.Val279Leu)	TGFBR1 (V279L +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 213881	NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)	TGFBR1 (Y282H +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 636866	NM_004612.4(TGFBR1):c.847_849del (p.His283del)	TGFBR1 (H283del +2 more)	Deletion (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1764937	NM_004612.4(TGFBR1):c.886A>G (p.Thr296Ala)	TGFBR1 (T227A +7 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1764957	NM_004612.4(TGFBR1):c.887C>G (p.Thr296Arg)	TGFBR1 (T300R +7 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 477564	NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile)	TGFBR1 (V297I +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1 +2 more	GUncertain significance
Select item 1765282	NM_004612.4(TGFBR1):c.896T>C (p.Val299Ala)	TGFBR1 (V140A +7 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance

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