"Color Diagnostics, LLC DBA Color Health"[submitter] AND "TGFBR2"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2774558	NM_003242.6(TGFBR2):c.-15G>C	TGFBR2	Single nucleotide variant (intron variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 928401	NM_003242.6(TGFBR2):c.-9G>T	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Diabetic retinopathy +1 more	GUncertain significance/Uncertain risk allele
Select item 2774559	NM_003242.6(TGFBR2):c.-5C>T	TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 920747	NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)	TGFBR2 (M1V)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance/Uncertain risk allele
Select item 239531	NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)	TGFBR2 (G2C)	Single nucleotide variant (missense variant)	Diabetic retinopathy +3 more	GConflicting classifications of pathogenicity
Select item 618429	NM_003242.6(TGFBR2):c.6T>C (p.Gly2=)	TGFBR2	Single nucleotide variant (5 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 922243	NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln)	TGFBR2 (R3Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance/Uncertain risk allele
Select item 628749	NM_003242.6(TGFBR2):c.9G>A (p.Arg3=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 923189	NM_003242.6(TGFBR2):c.43G>A (p.Val15Ile)	TGFBR2 (V15I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 629715	NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe)	TGFBR2 (V15F)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +2 more	GUncertain significance/Uncertain risk allele
Select item 927137	NM_003242.6(TGFBR2):c.54G>A (p.Thr18=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Diabetic retinopathy +1 more	GLikely benign
Select item 921794	NM_003242.6(TGFBR2):c.56G>A (p.Arg19His)	TGFBR2 (R19H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance/Uncertain risk allele
Select item 920717	NM_003242.6(TGFBR2):c.58A>G (p.Ile20Val)	TGFBR2 (I20V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance/Uncertain risk allele
Select item 924974	NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys)	TGFBR2 (S22C)	Single nucleotide variant (missense variant)	Diabetic retinopathy +3 more	GUncertain significance/Uncertain risk allele
Select item 239533	NM_003242.6(TGFBR2):c.69G>T (p.Thr23=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Diabetic retinopathy +4 more	GConflicting classifications of pathogenicity
Select item 543908	NM_003242.6(TGFBR2):c.75A>G (p.Pro25=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Diabetic retinopathy +3 more	GBenign/Likely benign
Select item 858705	NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)	TGFBR2 (P26S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GUncertain significance/Uncertain risk allele
Select item 918998	NM_003242.6(TGFBR2):c.94+6T>G	TGFBR2	Single nucleotide variant (intron variant)	Diabetic retinopathy +2 more	GConflicting classifications of pathogenicity
Select item 378727	NM_003242.6(TGFBR2):c.94+16245G>A	TGFBR2 (D40N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 627738	NM_003242.6(TGFBR2):c.94+16256C>T	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Diabetic retinopathy +2 more	GLikely benign
Select item 2774560	NM_003242.6(TGFBR2):c.95-5_95-3del	TGFBR2	Microsatellite (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 923234	NM_003242.6(TGFBR2):c.95-7T>G	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 628867	NM_003242.6(TGFBR2):c.95-7T>C	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 918414	NM_003242.6(TGFBR2):c.95-3C>G	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 408434	NM_003242.6(TGFBR2):c.95-3C>A	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 12513	NM_003242.6(TGFBR2):c.95-2A>G	TGFBR2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1171653	NM_003242.6(TGFBR2):c.98A>G (p.Asn33Ser)	TGFBR2 (N33S +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1540081	NM_003242.6(TGFBR2):c.102C>T (p.Asn34=)	TGFBR2	Single nucleotide variant (5 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 923682	NM_003242.6(TGFBR2):c.103G>C (p.Asp35His)	TGFBR2 (D35H +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 921249	NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn)	TGFBR2 (D60N +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 264100	NM_003242.6(TGFBR2):c.106A>G (p.Met36Val)	TGFBR2 (M36V +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GLikely benign
Select item 2774562	NM_003242.6(TGFBR2):c.109A>C (p.Ile37Leu)	TGFBR2 (I46L +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 213938	NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser)	TGFBR2 (T39S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2774563	NM_003242.6(TGFBR2):c.120C>T (p.Asp40=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 920145	NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser)	TGFBR2 (N67S +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 543907	NM_003242.6(TGFBR2):c.126C>T (p.Asn42=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Diabetic retinopathy +2 more	GLikely benign
Select item 924519	NM_003242.6(TGFBR2):c.136A>G (p.Lys46Glu)	TGFBR2 (K71E +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
Select item 922846	NM_003242.6(TGFBR2):c.156A>G (p.Lys52=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 922450	NM_003242.6(TGFBR2):c.188A>G (p.Asn63Ser)	TGFBR2 (N63S +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +1 more	GUncertain significance/Uncertain risk allele
Select item 2697396	NM_003242.6(TGFBR2):c.195A>G (p.Lys65=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2774564	NM_003242.6(TGFBR2):c.199_203del (p.Cys67fs)	TGFBR2 (C32fs +3 more)	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 629708	NM_003242.6(TGFBR2):c.207C>T (p.Ser69=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2774565	NM_003242.6(TGFBR2):c.221C>A (p.Thr74Asn)	TGFBR2 (T74N +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 1331930	NM_003242.6(TGFBR2):c.240A>G (p.Pro80=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2774566	NM_003242.6(TGFBR2):c.259G>C (p.Val87Leu)	TGFBR2 (V52L +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 918222	NM_003242.6(TGFBR2):c.261A>G (p.Val87=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 925727	NM_003242.6(TGFBR2):c.264-11C>T	TGFBR2	Single nucleotide variant (intron variant)	Diabetic retinopathy +1 more	GLikely benign
Select item 701167	NM_003242.6(TGFBR2):c.264-7A>G	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2 +3 more	GLikely benign
Select item 629218	NM_003242.6(TGFBR2):c.272A>C (p.Asn91Thr)	TGFBR2 (N116T +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance/Uncertain risk allele
Select item 706875	NM_003242.6(TGFBR2):c.276C>T (p.Asp92=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2 +3 more	GLikely benign
Select item 920483	NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys)	TGFBR2 (E93K +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1332398	NM_003242.6(TGFBR2):c.278A>G (p.Glu93Gly)	TGFBR2 (E118G +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1043804	NM_003242.6(TGFBR2):c.283A>G (p.Ile95Val)	TGFBR2 (I120V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance/Uncertain risk allele
Select item 926495	NM_003242.6(TGFBR2):c.291A>G (p.Leu97=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Diabetic retinopathy +1 more	GLikely benign
Select item 36868	NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)	TGFBR2 (P104S +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 920653	NM_003242.6(TGFBR2):c.319C>A (p.Pro107Thr)	TGFBR2 (P107T +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 922792	NM_003242.6(TGFBR2):c.325C>G (p.His109Asp)	TGFBR2 (H109D +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 927079	NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)	TGFBR2 (E139Q +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +4 more	GUncertain significance/Uncertain risk allele
Select item 922847	NM_003242.6(TGFBR2):c.342A>G (p.Glu114=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 924010	NM_003242.6(TGFBR2):c.352T>C (p.Ser118Pro)	TGFBR2 (S118P +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +1 more	GUncertain significance/Uncertain risk allele
Select item 213939	NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)	TGFBR2 (M123L +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +6 more	GConflicting classifications of pathogenicity
Select item 925466	NM_003242.6(TGFBR2):c.371A>C (p.Lys124Thr)	TGFBR2 (K124T +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 662321	NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)	TGFBR2 (P129fs +1 more)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 1518568	NM_003242.6(TGFBR2):c.374A>G (p.Glu125Gly)	TGFBR2 (E125G +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 477546	NM_003242.6(TGFBR2):c.383del (p.Lys128fs)	TGFBR2 (K153fs +1 more)	Deletion (frameshift variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2774567	NM_003242.6(TGFBR2):c.381A>G (p.Lys127=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1171138	NM_003242.6(TGFBR2):c.387T>C (p.Pro129=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 918301	NM_003242.6(TGFBR2):c.389G>T (p.Gly130Val)	TGFBR2 (G155V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 927735	NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile)	TGFBR2 (T132I +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +2 more	GUncertain significance/Uncertain risk allele
Select item 1171647	NM_003242.6(TGFBR2):c.403A>G (p.Met135Val)	TGFBR2 (M135V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2774568	NM_003242.6(TGFBR2):c.416G>T (p.Ser139Ile)	TGFBR2 (S104I +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 477547	NM_003242.6(TGFBR2):c.448T>C (p.Ser150Pro)	TGFBR2 (S150P +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 811924	NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val)	TGFBR2 (E151V +3 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 1172242	NM_003242.6(TGFBR2):c.454+8_454+9del	TGFBR2	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2774569	NM_003242.6(TGFBR2):c.455-8C>T	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1331769	NM_003242.6(TGFBR2):c.455-6C>T	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 629478	NM_003242.6(TGFBR2):c.455-5A>G	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 44658	NM_003242.6(TGFBR2):c.455-4T>A	TGFBR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GBenign
Select item 921252	NM_003242.6(TGFBR2):c.462C>G (p.Asn154Lys)	TGFBR2 (N179K +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 177927	NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)	TGFBR2 (T155I +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 921827	NM_003242.6(TGFBR2):c.467G>T (p.Ser156Ile)	TGFBR2 (S156I +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 923372	NM_003242.6(TGFBR2):c.469A>T (p.Asn157Tyr)	TGFBR2 (N182Y +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 920619	NM_003242.6(TGFBR2):c.476_483del (p.Asp159fs)	TGFBR2 (D184fs +1 more)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 919700	NM_003242.6(TGFBR2):c.486A>G (p.Leu162=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 918873	NM_003242.6(TGFBR2):c.497A>G (p.Gln166Arg)	TGFBR2 (Q166R +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 923453	NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)	TGFBR2 (G169R +8 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 922228	NM_003242.6(TGFBR2):c.506G>T (p.Gly169Val)	TGFBR2 (G194V +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1332088	NM_003242.6(TGFBR2):c.516C>G (p.Leu172=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1536244	NM_003242.6(TGFBR2):c.522A>G (p.Pro174=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 629345	NM_003242.6(TGFBR2):c.528G>A (p.Leu176=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1171145	NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val)	TGFBR2 (I180V +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 2774570	NM_003242.6(TGFBR2):c.547A>G (p.Ile183Val)	TGFBR2 (I148V +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 922543	NM_003242.6(TGFBR2):c.550A>C (p.Ile184Leu)	TGFBR2 (I209L +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 918970	NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val)	TGFBR2 (I184V +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 408439	NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile)	TGFBR2 (F211I +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 920826	NM_003242.6(TGFBR2):c.558C>T (p.Phe186=)	TGFBR2	Single nucleotide variant (intron variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2774571	NM_003242.6(TGFBR2):c.562T>G (p.Cys188Gly)	TGFBR2 (C68G +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 543909	NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 403531	NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)	TGFBR2 (R190H +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GUncertain significance
Select item 137635	NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)	TGFBR2 (V216I +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +6 more	GBenign/Likely benign

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