"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 722858	NM_004612.4(TGFBR1):c.98-6T>C	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome +1 more	GLikely benign
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)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3073261	NM_004612.4(TGFBR1):c.117C>T (p.His39=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 178135	NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)	TGFBR1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3072295	NM_004612.4(TGFBR1):c.122_123del (p.Cys41fs)	TGFBR1 (C41fs)	Deletion (frameshift variant +3 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 29915	NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)	TGFBR1 (N45S)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 2774548	NM_004612.4(TGFBR1):c.159C>T (p.Leu53=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 1330859	NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp)	TGFBR1 (E60D)	Single nucleotide variant (missense variant)	TGFBR1-related disorder +3 more	GUncertain significance
Select item 565573	NM_004612.4(TGFBR1):c.187G>A (p.Asp63Asn)	TGFBR1 (D63N)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 282059	NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg)	TGFBR1 (K64R)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1 +3 more	GUncertain significance
Select item 213853	NM_004612.4(TGFBR1):c.192A>G (p.Lys64=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +4 more	GBenign/Likely benign
Select item 927652	NM_004612.4(TGFBR1):c.193G>A (p.Val65Ile)	TGFBR1 (V65I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 618428	NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)	TGFBR1 (H67Y)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 213865	NM_004612.4(TGFBR1):c.207C>T (p.Ser69=)	TGFBR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3386036	NM_004612.4(TGFBR1):c.214A>G (p.Ile72Val)	TGFBR1 (I3V +1 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 543903	NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys)	TGFBR1 (E74K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1171540	NM_004612.4(TGFBR1):c.239G>A (p.Arg80Gln)	TGFBR1 (R80Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2160012	NM_004612.4(TGFBR1):c.240A>G (p.Arg80=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 390446	NM_004612.4(TGFBR1):c.249G>A (p.Pro83=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 920306	NM_004612.4(TGFBR1):c.283G>A (p.Val95Met)	TGFBR1 (V95M)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 547808	NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser)	TGFBR1 (T98S)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +3 more	GUncertain significance
Select item 918266	NM_004612.4(TGFBR1):c.294A>G (p.Thr98=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +2 more	GLikely benign
Select item 1332538	NM_004612.4(TGFBR1):c.297T>C (p.Tyr99=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 2155696	NM_004612.4(TGFBR1):c.305A>G (p.Asn102Ser)	TGFBR1 (N33S +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 3075528	NM_004612.4(TGFBR1):c.308A>G (p.Gln103Arg)	TGFBR1 (Q103R +1 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3070787	NM_004612.4(TGFBR1):c.313dup (p.His105fs)	TGFBR1 (H105fs +1 more)	Duplication (frameshift variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3069710	NM_004612.4(TGFBR1):c.324A>C (p.Lys108Asn)	TGFBR1 (K108N +1 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 1473074	NM_004612.4(TGFBR1):c.331C>G (p.Leu111Val)	TGFBR1 (L111V)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 3386038	NM_004612.4(TGFBR1):c.342T>G (p.Thr114=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 636440	NM_004612.4(TGFBR1):c.342T>A (p.Thr114=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +2 more	GConflicting classifications of pathogenicity
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 3071069	NM_004612.4(TGFBR1):c.344-15G>A	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome	GUncertain significance
Select item 3075446	NM_004612.4(TGFBR1):c.367C>G (p.Pro123Ala)	TGFBR1 (P123A +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 926842	NM_004612.4(TGFBR1):c.376C>G (p.Leu126Val)	TGFBR1 (L126V +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 3386039	NM_004612.4(TGFBR1):c.379G>T (p.Ala127Ser)	TGFBR1 (A127S +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3073082	NM_004612.4(TGFBR1):c.397C>T (p.Pro133Ser)	TGFBR1 (P133S +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	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 180538	NM_004612.4(TGFBR1):c.400G>A (p.Val134Met)	TGFBR1 (V134M +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 745077	NM_004612.4(TGFBR1):c.408C>T (p.Phe136=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome +1 more	GLikely benign
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 1108005	NM_004612.4(TGFBR1):c.414C>T (p.Cys138=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3069471	NM_004612.4(TGFBR1):c.421C>T (p.Leu141Phe)	TGFBR1 (L141F +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3386040	NM_004612.4(TGFBR1):c.429G>T (p.Leu143Phe)	TGFBR1 (L143F +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 213867	NM_004612.4(TGFBR1):c.434T>G (p.Val145Gly)	TGFBR1 (V145G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 2903406	NM_004612.4(TGFBR1):c.435C>G (p.Val145=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3386041	NM_004612.4(TGFBR1):c.437A>G (p.Tyr146Cys)	TGFBR1 (Y146C +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3072783	NM_004612.4(TGFBR1):c.438T>C (p.Tyr146=)	TGFBR1	Single nucleotide variant (intron variant +2 more)	Loeys-Dietz syndrome	GLikely benign
Select item 659659	NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys)	TGFBR1 (R151C +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome +4 more	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)	not specified +6 more	GBenign/Likely benign
Select item 3070899	NM_004612.4(TGFBR1):c.463C>T (p.His155Tyr)	TGFBR1 (H155Y +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 1702289	NM_004612.4(TGFBR1):c.463C>G (p.His155Asp)	TGFBR1 (H155D +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 408560	NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter)	TGFBR1 (R157* +1 more)	Single nucleotide variant (nonsense +1 more)	Loeys-Dietz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 920378	NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln)	TGFBR1 (R161Q +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome +2 more	GUncertain significance
Select item 3386042	NM_004612.4(TGFBR1):c.474G>A (p.Val158=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome	GLikely benign
Select item 364098	NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser)	TGFBR1 (N160S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1644956	NM_004612.4(TGFBR1):c.480T>C (p.Asn160=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 918562	NM_004612.4(TGFBR1):c.495A>G (p.Ser165=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 408568	NM_004612.4(TGFBR1):c.500A>C (p.Asp167Ala)	TGFBR1 (D167A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1081254	NM_004612.4(TGFBR1):c.516A>G (p.Ser172=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 855095	NM_004612.4(TGFBR1):c.527C>T (p.Thr176Met)	TGFBR1 (T176M +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 45097	NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 919718	NM_004612.4(TGFBR1):c.529T>C (p.Leu177=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 1 +3 more	GLikely benign
Select item 3070751	NM_004612.4(TGFBR1):c.546T>C (p.Tyr182=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome	GLikely benign
Select item 3074454	NM_004612.4(TGFBR1):c.551T>C (p.Met184Thr)	TGFBR1 (M102T +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 2051190	NM_004612.4(TGFBR1):c.555A>G (p.Thr185=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 918992	NM_004612.4(TGFBR1):c.561A>G (p.Ser187=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 3386043	NM_004612.4(TGFBR1):c.575-13T>C	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome	GLikely benign
Select item 3070892	NM_004612.4(TGFBR1):c.575-4_575-3dup	TGFBR1	Duplication (intron variant)	Loeys-Dietz syndrome	GUncertain significance
Select item 3386044	NM_004612.4(TGFBR1):c.579A>C (p.Leu193Phe)	TGFBR1 (L111F +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 477557	NM_004612.4(TGFBR1):c.582A>T (p.Pro194=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 389350	NM_004612.4(TGFBR1):c.582A>G (p.Pro194=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 2843095	NM_004612.4(TGFBR1):c.588T>G (p.Leu196=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 3075036	NM_004612.4(TGFBR1):c.592C>G (p.Gln198Glu)	TGFBR1 (Q116E +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 707722	NM_004612.4(TGFBR1):c.606G>A (p.Ala202=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +2 more	GLikely benign
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)	Loeys-Dietz syndrome 1 +4 more	GUncertain significance
Select item 390105	NM_004612.4(TGFBR1):c.618G>T (p.Val206=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 213873	NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe)	TGFBR1 (V219F +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 3069891	NM_004612.4(TGFBR1):c.680A>C (p.Glu227Ala)	TGFBR1 (E145A +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 2774553	NM_004612.4(TGFBR1):c.691G>A (p.Val231Ile)	TGFBR1 (V154I +6 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3072900	NM_004612.4(TGFBR1):c.701T>G (p.Phe234Cys)	TGFBR1 (F152C +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
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 741849	NM_004612.4(TGFBR1):c.705C>G (p.Ser235=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +2 more	GLikely benign
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 391327	NM_004612.4(TGFBR1):c.723G>A (p.Ser241=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 3072103	NM_004612.4(TGFBR1):c.730C>G (p.Arg244Gly)	TGFBR1 (R162G +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 1305247	NM_004612.4(TGFBR1):c.730C>T (p.Arg244Cys)	TGFBR1 (R167C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3071947	NM_004612.4(TGFBR1):c.760T>G (p.Leu254Val)	TGFBR1 (L172V +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 1335731	NM_004612.4(TGFBR1):c.805+5_805+6del	TGFBR1	Deletion (intron variant)	Loeys-Dietz syndrome 1 +2 more	GUncertain significance
Select item 1332007	NM_004612.4(TGFBR1):c.805+5del	TGFBR1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1980187	NM_004612.4(TGFBR1):c.806-14A>G	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 3071220	NM_004612.4(TGFBR1):c.806-3C>T	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome	GLikely benign
Select item 29917	NM_004612.4(TGFBR1):c.806-2A>C	TGFBR1	Single nucleotide variant (splice acceptor variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3069404	NM_004612.4(TGFBR1):c.808A>G (p.Asn270Asp)	TGFBR1 (N111D +7 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 520220	NM_004612.4(TGFBR1):c.809A>G (p.Asn270Ser)	TGFBR1 (N270S +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +2 more	GUncertain significance
Select item 919145	NM_004612.4(TGFBR1):c.813T>C (p.Gly271=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +2 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)	Loeys-Dietz syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 3072725	NM_004612.4(TGFBR1):c.848A>T (p.His283Leu)	TGFBR1 (H124L +7 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance

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