"Color Diagnostics, LLC DBA Color Health"[submitter] AND "TGFBR1"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 919533	NM_004612.4(TGFBR1):c.98C>G (p.Ala33Gly)	TGFBR1 (A33G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 520229	NM_004612.4(TGFBR1):c.98C>T (p.Ala33Val)	TGFBR1 (A33V)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 383294	NM_004612.4(TGFBR1):c.135T>C (p.Asn45=)	TGFBR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 29916	NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg)	TGFBR1 (G52R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 920219	NM_004612.4(TGFBR1):c.157C>T (p.Leu53Phe)	TGFBR1 (L53F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2774548	NM_004612.4(TGFBR1):c.159C>T (p.Leu53=)	TGFBR1	Single nucleotide variant (5 prime UTR variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1330859	NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp)	TGFBR1 (E60D)	Single nucleotide variant (missense variant)	not provided +3 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 +3 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)	Loeys-Dietz syndrome +5 more	GConflicting classifications of pathogenicity
Select item 213865	NM_004612.4(TGFBR1):c.207C>T (p.Ser69=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +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 disorder +4 more	GConflicting classifications of pathogenicity
Select item 543903	NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys)	TGFBR1 (E74K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 222836	NM_004612.4(TGFBR1):c.222A>C (p.Glu74Asp)	TGFBR1 (E74D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 919038	NM_004612.4(TGFBR1):c.225T>A (p.Ile75=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 390446	NM_004612.4(TGFBR1):c.249G>A (p.Pro83=)	TGFBR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1331798	NM_004612.4(TGFBR1):c.256T>C (p.Cys86Arg)	TGFBR1 (C86R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 921029	NM_004612.4(TGFBR1):c.276T>C (p.Thr92=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	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)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 918266	NM_004612.4(TGFBR1):c.294A>G (p.Thr98=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 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 1171572	NM_004612.4(TGFBR1):c.337A>G (p.Thr113Ala)	TGFBR1 (T113A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 927628	NM_004612.4(TGFBR1):c.341C>G (p.Thr114Ser)	TGFBR1 (T114S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 924347	NM_004612.4(TGFBR1):c.341C>T (p.Thr114Ile)	TGFBR1 (T114I)	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)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1332148	NM_004612.4(TGFBR1):c.344-13G>A	TGFBR1	Single nucleotide variant (intron variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 926107	NM_004612.4(TGFBR1):c.346A>G (p.Lys116Glu)	TGFBR1 (K120E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2774549	NM_004612.4(TGFBR1):c.359G>T (p.Gly120Val)	TGFBR1 (G120V +4 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	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 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 925378	NM_004612.4(TGFBR1):c.403T>G (p.Cys135Gly)	TGFBR1 (C135G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	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)	Familial thoracic aortic aneurysm and aortic dissection +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1422058	NM_004612.4(TGFBR1):c.424A>T (p.Met142Leu)	TGFBR1 (M146L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 629783	NM_004612.4(TGFBR1):c.449A>G (p.Asn150Ser)	TGFBR1 (N150S +1 more)	Single nucleotide variant (intron variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 2774551	NM_004612.4(TGFBR1):c.453C>T (p.Arg151=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 213868	NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)	TGFBR1 (V153I +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome +6 more	GBenign/Likely benign
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 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 925487	NM_004612.4(TGFBR1):c.487del (p.Asp163fs)	TGFBR1 (D163fs +1 more)	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1332219	NM_004612.4(TGFBR1):c.488A>G (p.Asp163Gly)	TGFBR1 (D163G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	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 927178	NM_004612.4(TGFBR1):c.503G>T (p.Arg168Leu)	TGFBR1 (R168L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 922077	NM_004612.4(TGFBR1):c.505C>G (p.Pro169Ala)	TGFBR1 (P169A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1081254	NM_004612.4(TGFBR1):c.516A>G (p.Ser172=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	not provided +5 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 +3 more	GLikely benign
Select item 1331969	NM_004612.4(TGFBR1):c.538T>C (p.Leu180=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 386832	NM_004612.4(TGFBR1):c.558G>A (p.Thr186=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	not specified +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 2774552	NM_004612.4(TGFBR1):c.574+7_574+8del	TGFBR1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 213855	NM_004612.4(TGFBR1):c.575-9dup	TGFBR1	Duplication (intron variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
Select item 582028	NM_004612.4(TGFBR1):c.575-5T>G	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 1171696	NM_004612.4(TGFBR1):c.583T>C (p.Leu195=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 762019	NM_004612.4(TGFBR1):c.603T>C (p.Ile201=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 707722	NM_004612.4(TGFBR1):c.606G>A (p.Ala202=)	TGFBR1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 213899	NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val)	TGFBR1 (I205V +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 923886	NM_004612.4(TGFBR1):c.617T>C (p.Val206Ala)	TGFBR1 (V210A +2 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)	not specified +2 more	GLikely benign
Select item 921110	NM_004612.4(TGFBR1):c.623A>T (p.Gln208Leu)	TGFBR1 (Q212L +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 927574	NM_004612.4(TGFBR1):c.651A>G (p.Gly217=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1976574	NM_004612.4(TGFBR1):c.654A>G (p.Glu218=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 949020	NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp)	TGFBR1 (R225W +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 626773	NM_004612.4(TGFBR1):c.678A>G (p.Gly226=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
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 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 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 810398	NM_004612.4(TGFBR1):c.720T>C (p.Arg240=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +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 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 920194	NM_004612.4(TGFBR1):c.735G>A (p.Glu245=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 508541	NM_004612.4(TGFBR1):c.741G>A (p.Glu247=)	TGFBR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 920636	NM_004612.4(TGFBR1):c.805+7_805+17del	TGFBR1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 415028	NM_004612.4(TGFBR1):c.810T>C (p.Asn270=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +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 364101	NM_004612.4(TGFBR1):c.828C>G (p.Leu276=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 918478	NM_004612.4(TGFBR1):c.831_841del (p.Trp277_Asp281delinsTer)	TGFBR1	Deletion (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 920214	NM_004612.4(TGFBR1):c.842A>C (p.Asp281Ala)	TGFBR1 (D204A +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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 +5 more	GConflicting classifications of pathogenicity
Select item 923085	NM_004612.4(TGFBR1):c.854A>T (p.His285Leu)	TGFBR1 (H208L +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 636853	NM_004612.4(TGFBR1):c.854A>G (p.His285Arg)	TGFBR1 (H285R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2179923	NM_004612.4(TGFBR1):c.882A>G (p.Arg294=)	TGFBR1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 926038	NM_004612.4(TGFBR1):c.883T>A (p.Tyr295Asn)	TGFBR1 (Y218N +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 701135	NM_004612.4(TGFBR1):c.888A>G (p.Thr296=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +1 more	GLikely benign
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 497430	NM_004612.4(TGFBR1):c.897G>A (p.Val299=)	TGFBR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 516728	NM_004612.4(TGFBR1):c.927G>A (p.Thr309=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 923716	NM_004612.4(TGFBR1):c.929C>A (p.Ala310Glu)	TGFBR1 (A314E +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 520216	NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val)	TGFBR1 (A310V +2 more)	Single nucleotide variant (missense variant)	TGFBR1-related disorder +4 more	GUncertain significance
Select item 2774555	NM_004612.4(TGFBR1):c.930G>T (p.Ala310=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign

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