ClinVar for MedGen (Select 1646567) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377168	NM_004612.4(TGFBR1):c.343+1G>C	TGFBR1	Single nucleotide variant (splice donor variant +1 more)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 3075667	NM_004612.4(TGFBR1):c.650G>A (p.Gly217Glu)	TGFBR1 (G135E +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome 1	GLikely pathogenic
Select item 1806277	NM_004612.4(TGFBR1):c.1442C>T (p.Ala481Val)	TGFBR1 (A245V +9 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 1806085	NM_004612.4(TGFBR1):c.1060C>A (p.Leu354Met)	TGFBR1 (L118M +9 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 1805979	NM_004612.4(TGFBR1):c.98-1G>A	TGFBR1	Single nucleotide variant (splice acceptor variant +1 more)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 1805069	NM_004612.4(TGFBR1):c.1468A>G (p.Lys490Glu)	TGFBR1 (K254E +9 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GLikely pathogenic
Select item 1709640	NM_004612.4(TGFBR1):c.1488T>A (p.Ser496Arg)	TGFBR1 (S260R +9 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 1709170	NM_005901.6(SMAD2):c.507_508del (p.Arg169fs)	SMAD2 (R139fs +1 more)	Microsatellite (frameshift variant)	Loeys-Dietz syndrome 1	GLikely pathogenic
Select item 1699262	NM_004612.4(TGFBR1):c.569G>T (p.Gly190Val)	TGFBR1 (G190V +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 1698260	NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp)	TGFBR1 (E242D +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1527851	NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer)	TGFBR1	Insertion (inframe_insertion +1 more)	Loeys-Dietz syndrome 1 +1 more	GUncertain significance
Select item 1425678	NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1356148	NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro)	TGFBR1 (L14P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 1335731	NM_004612.4(TGFBR1):c.805+5_805+6del	TGFBR1	Deletion (intron variant)	Loeys-Dietz syndrome +2 more	GUncertain significance
Select item 1333472	NM_004612.4(TGFBR1):c.994A>G (p.Arg332Gly)	TGFBR1 (R255G +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 1332769	NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn)	TGFBR1 (D323N +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1 +1 more	GLikely pathogenic
Select item 1320270	NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg)	TGFBR1 (G137R +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GLikely pathogenic
Select item 1081254	NM_004612.4(TGFBR1):c.516A>G (p.Ser172=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 1067739	NM_004612.4(TGFBR1):c.943C>T (p.His315Tyr)	TGFBR1 (H238Y +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1 +1 more	GLikely pathogenic
Select item 1034099	NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg)	TGFBR1 (W281R +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GLikely pathogenic
Select item 992362	NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro)	TGFBR1 (L199P +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GLikely pathogenic
Select item 949020	NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp)	TGFBR1 (R225W +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 940612	NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met)	TGFBR1 (T309M +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 934744	NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg)	TGFBR1 (G30R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 928431	NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=)	TGFBR1	Single nucleotide variant (synonymous variant)	not provided +3 more	GUncertain significance
Select item 927276	NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)	TGFBR1 (T364S +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +4 more	GConflicting classifications of pathogenicity
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 919718	NM_004612.4(TGFBR1):c.529T>C (p.Leu177=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 919136	NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser)	TGFBR1 (C347S +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +4 more	GUncertain significance
Select item 914882	NM_004612.4(TGFBR1):c.*4219G>A	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914881	NM_004612.4(TGFBR1):c.*4040T>A	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914880	NM_004612.4(TGFBR1):c.*3839A>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914838	NM_004612.4(TGFBR1):c.*2846A>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914807	NM_004612.4(TGFBR1):c.*1910A>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914806	NM_004612.4(TGFBR1):c.*1792C>A	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914805	NM_004612.4(TGFBR1):c.*1759C>A	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914763	NM_004612.4(TGFBR1):c.*469T>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914762	NM_004612.4(TGFBR1):c.*456G>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914761	NM_004612.4(TGFBR1):c.*441C>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914760	NM_004612.4(TGFBR1):c.*408C>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914759	NM_004612.4(TGFBR1):c.*372T>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914758	NM_004612.4(TGFBR1):c.*339G>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914707	NM_004612.4(TGFBR1):c.-31G>A	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914706	NM_004612.4(TGFBR1):c.-56G>A	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914378	NM_004612.4(TGFBR1):c.*3779C>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914343	NM_004612.4(TGFBR1):c.*2554A>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914342	NM_004612.4(TGFBR1):c.*2411G>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914341	NM_004612.4(TGFBR1):c.*2409A>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914301	NM_004612.4(TGFBR1):c.*1343T>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914262	NM_004612.4(TGFBR1):c.*250T>A	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 914261	NM_004612.4(TGFBR1):c.*247T>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 913218	NM_004612.4(TGFBR1):c.*2290T>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 913217	NM_004612.4(TGFBR1):c.*2112G>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 913216	NM_004612.4(TGFBR1):c.*2101T>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 913165	NM_004612.4(TGFBR1):c.*1240G>A	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 913164	NM_004612.4(TGFBR1):c.*1159T>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912935	NM_004612.4(TGFBR1):c.*4445C>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912934	NM_004612.4(TGFBR1):c.*4366A>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912933	NM_004612.4(TGFBR1):c.*4295C>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912932	NM_004612.4(TGFBR1):c.*4293A>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912931	NM_004612.4(TGFBR1):c.*4278C>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912889	NM_004612.4(TGFBR1):c.*3150C>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912888	NM_004612.4(TGFBR1):c.*3095A>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912887	NM_004612.4(TGFBR1):c.*3059A>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912886	NM_004612.4(TGFBR1):c.*2943A>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912802	NM_004612.4(TGFBR1):c.*1080A>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912801	NM_004612.4(TGFBR1):c.*913C>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912800	NM_004612.4(TGFBR1):c.*502T>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 912753	NM_004612.4(TGFBR1):c.296A>G (p.Tyr99Cys)	TGFBR1 (Y99C)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1 +1 more	GUncertain significance
Select item 861293	NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr)	TGFBR1 (C397Y +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 800489	NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp)	TGFBR1 (E168D +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GLikely pathogenic
Select item 694685	NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter)	TGFBR2 (W504* +10 more)	Single nucleotide variant (nonsense)	Loeys-Dietz syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 692013	NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)	TGFBR1 (R178C +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GConflicting classifications of pathogenicity
Select item 659659	NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys)	TGFBR1 (R151C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 652276	NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser)	TGFBR1 (R482S +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 636866	NM_004612.4(TGFBR1):c.847_849del (p.His283del)	TGFBR1 (H283del +2 more)	Deletion (inframe_deletion)	Loeys-Dietz syndrome 1 +2 more	GUncertain significance
Select item 635251	NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val)	TGFBR1 (A202V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 626775	NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 624363	NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His)	TGFBR1 (Y429H +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 618428	NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)	TGFBR1 (H67Y)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 543893	NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup)	TGFBR1	Microsatellite (inframe_insertion)	Loeys-Dietz syndrome 1 +2 more	GUncertain significance
Select item 520505	NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro)	TGFBR1 (L354P +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GLikely pathogenic
Select item 520504	NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala)	TGFBR1 (E245A +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 520216	NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val)	TGFBR1 (A310V +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 488621	NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)	TGFBR1 (G214S +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1	GPathogenic/Likely pathogenic
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 477563	NM_004612.4(TGFBR1):c.848A>G (p.His283Arg)	TGFBR1 (H283R +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 389350	NM_004612.4(TGFBR1):c.582A>G (p.Pro194=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 364194	NM_004612.4(TGFBR1):c.*4809A>T	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1 +2 more	GLikely benign
Select item 364193	NM_004612.4(TGFBR1):c.*4793A>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +2 more	GUncertain significance
Select item 364192	NM_004612.4(TGFBR1):c.*4804dup	TGFBR1	Duplication (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 364191	NM_004612.4(TGFBR1):c.*4728G>A	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1 +2 more	GLikely benign
Select item 364190	NM_004612.4(TGFBR1):c.*4623G>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 364189	NM_004612.4(TGFBR1):c.*4578T>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1 +3 more	GBenign
Select item 364188	NM_004612.4(TGFBR1):c.*4565T>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1 +2 more	GLikely benign
Select item 364187	NM_004612.4(TGFBR1):c.*4499G>A	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 364186	NM_004612.4(TGFBR1):c.*4493G>A	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 1 +2 more	GLikely benign
Select item 364185	NM_004612.4(TGFBR1):c.*4489T>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +3 more	GBenign
Select item 364184	NM_004612.4(TGFBR1):c.*4467C>A	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 364183	NM_004612.4(TGFBR1):c.*4356A>G	TGFBR1	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome +2 more	GConflicting classifications of pathogenicity

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