TGFBR1[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogeni - ClinVar

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Items: 77

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6393791.	NC_000009.12:g.(?_99105186)_(99105322_?)del GRCh37: Chr9:101867468-101867604 GRCh38: Chr9:99105186-99105322	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 16, 2018)	criteria provided, single submitter
Select item 2633912.	NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs) GRCh37: Chr9:101867557-101867561 GRCh38: Chr9:99105275-99105279	TGFBR1	A24fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 14459133.	NM_004612.4(TGFBR1):c.102dup (p.Gln35fs) GRCh37: Chr9:101891140-101891141 GRCh38: Chr9:99128858-99128859	TGFBR1	Q35fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Nov 10, 2021)	criteria provided, single submitter
Select item 5202234.	NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter) GRCh37: Chr9:101891269 GRCh38: Chr9:99128987	TGFBR1	L77*	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 4085605.	NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter) GRCh37: Chr9:101894916 GRCh38: Chr9:99132634	TGFBR1	R157, R161	Familial thoracic aortic aneurysm and aortic dissection, Multiple self-healing squamous epithelioma	Pathogenic (Oct 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14513126.	NM_004612.4(TGFBR1):c.516dup (p.Glu173fs) GRCh37: Chr9:101894962-101894963 GRCh38: Chr9:99132680-99132681	TGFBR1	E173fs, E177fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 125277.	NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val) GRCh37: Chr9:101894968 GRCh38: Chr9:99132686	TGFBR1	G174V, G178V	Loeys-Dietz syndrome 1	Pathogenic (Mar 1, 2008)	no assertion criteria provided
Select item 20985558.	NM_004612.4(TGFBR1):c.574+1G>A GRCh37: Chr9:101895022 GRCh38: Chr9:99132740	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 5836769.	NC_000009.12:g.(?_99137839)_(99138109_?)del GRCh37: Chr9:101900121-101900391 GRCh38: Chr9:99137839-99138109	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 147588310.	NM_004612.4(TGFBR1):c.575-1G>C GRCh37: Chr9:101900140 GRCh38: Chr9:99137858	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 1252211.	NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile) GRCh37: Chr9:101900165 GRCh38: Chr9:99137883	TGFBR1	T200I, T123I, T204I	Loeys-Dietz syndrome 1	Pathogenic (Mar 1, 2005)	no assertion criteria provided
Select item 52022112.	NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup) GRCh37: Chr9:101900198-101900199 GRCh38: Chr9:99137916-99137917	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 21, 2016)	criteria provided, single submitter
Select item 132027013.	NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg) GRCh37: Chr9:101900206 GRCh38: Chr9:99137924	TGFBR1	G137R, G214R, G218R	Loeys-Dietz syndrome 1	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 48862114.	NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) GRCh37: Chr9:101900206 GRCh38: Chr9:99137924	TGFBR1	G214S, G137S, G218S	Loeys-Dietz syndrome 1	Likely pathogenic (Dec 9, 2017)	criteria provided, single submitter
Select item 241292815.	NM_004612.4(TGFBR1):c.641G>A (p.Gly214Asp) GRCh37: Chr9:101900207 GRCh38: Chr9:99137925	TGFBR1	G132D, G137D, G145D, G149D, G214D, G218D, G55D	not provided	Likely pathogenic (Jan 24, 2023)	criteria provided, single submitter
Select item 98696116.	NM_004612.4(TGFBR1):c.671G>T (p.Trp224Leu) GRCh37: Chr9:101900237 GRCh38: Chr9:99137955	TGFBR1	W147L, W224L, W228L	not provided	Likely pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 21389617.	NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) GRCh37: Chr9:101900244-101900246 GRCh38: Chr9:99137962-99137964	TGFBR1	E228del, E151del, E232del	Familial thoracic aortic aneurysm and aortic dissection, not provided, Loeys-Dietz syndrome	Pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41851518.	NM_004612.4(TGFBR1):c.680A>T (p.Glu227Val) GRCh37: Chr9:101900246 GRCh38: Chr9:99137964	TGFBR1	E227V, E150V, E231V	not provided	Likely pathogenic (Sep 5, 2014)	criteria provided, single submitter
Select item 197250019.	NM_004612.4(TGFBR1):c.694A>T (p.Lys232Ter) GRCh37: Chr9:101900260 GRCh38: Chr9:99137978	TGFBR1	K155, K167, K232, K163, K236, K73, K150*	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 21387420.	NM_004612.4(TGFBR1):c.696G>C (p.Lys232Asn) GRCh37: Chr9:101900262 GRCh38: Chr9:99137980	TGFBR1	K232N, K155N, K236N	not provided	Likely pathogenic (Apr 14, 2013)	criteria provided, single submitter
Select item 40857221.	NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu) GRCh37: Chr9:101900266 GRCh38: Chr9:99137984	TGFBR1	F234L, F157L, F238L	Familial thoracic aortic aneurysm and aortic dissection, Familial aortopathy	Pathogenic/Likely pathogenic (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 207396422.	NM_004612.4(TGFBR1):c.715G>A (p.Glu239Lys) GRCh37: Chr9:101900281 GRCh38: Chr9:99137999	TGFBR1	E170K, E157K, E162K, E243K, E80K, E174K, E239K	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 1252423.	NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) GRCh37: Chr9:101900288 GRCh38: Chr9:99138006	TGFBR1	S241L, S164L, S245L	Cardiovascular phenotype, not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Marfan syndrome, Loeys-Dietz syndrome 1	Pathogenic/Likely pathogenic (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21387724.	NM_004612.4(TGFBR1):c.724T>C (p.Trp242Arg) GRCh37: Chr9:101900290 GRCh38: Chr9:99138008	TGFBR1	W242R, W246R, W165R	not provided	Likely pathogenic (May 13, 2014)	criteria provided, single submitter
Select item 47755925.	NM_004612.4(TGFBR1):c.733G>T (p.Glu245Ter) GRCh37: Chr9:101900299 GRCh38: Chr9:99138017	TGFBR1	E245, E249, E168*	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 80048926.	NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp) GRCh37: Chr9:101900301 GRCh38: Chr9:99138019	TGFBR1	E168D, E249D, E245D	Loeys-Dietz syndrome 1	Likely pathogenic	no assertion criteria provided
Select item 26377327.	NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) GRCh37: Chr9:101900323 GRCh38: Chr9:99138041	TGFBR1	M253V, M176V, M257V	Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21387828.	NM_004612.4(TGFBR1):c.758T>C (p.Met253Thr) GRCh37: Chr9:101900324 GRCh38: Chr9:99138042	TGFBR1	M253T, M257T, M176T	not provided	Likely pathogenic (Aug 18, 2014)	criteria provided, single submitter
Select item 175970329.	NM_004612.4(TGFBR1):c.759G>A (p.Met253Ile) GRCh37: Chr9:101900325 GRCh38: Chr9:99138043	TGFBR1	M171I, M176I, M184I, M188I, M253I, M94I, M257I	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Jul 14, 2017)	criteria provided, single submitter
Select item 47756230.	NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter) GRCh37: Chr9:101900347 GRCh38: Chr9:99138065	TGFBR1	G261, G184, G265*	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 14, 2017)	criteria provided, single submitter
Select item 102236331.	NM_004612.4(TGFBR1):c.791CAG[1] (p.Ala265del) GRCh37: Chr9:101900355-101900357 GRCh38: Chr9:99138073-99138075	TGFBR1	A188del, A265del, A269del	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 21388432.	NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly) GRCh37: Chr9:101900363 GRCh38: Chr9:99138081	TGFBR1	D266G, D270G, D189G	Loeys-Dietz syndrome 1, not provided	Pathogenic/Likely pathogenic (Apr 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21387933.	NM_004612.4(TGFBR1):c.820A>G (p.Thr274Ala) GRCh37: Chr9:101904832 GRCh38: Chr9:99142550	TGFBR1	T274A, T197A, T278A	not provided	Likely pathogenic (Sep 5, 2014)	criteria provided, single submitter
Select item 21388034.	NM_004612.4(TGFBR1):c.824A>G (p.Gln275Arg) GRCh37: Chr9:101904836 GRCh38: Chr9:99142554	TGFBR1	Q275R, Q279R, Q198R	not provided	Likely pathogenic (May 29, 2014)	criteria provided, single submitter
Select item 99236235.	NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro) GRCh37: Chr9:101904839 GRCh38: Chr9:99142557	TGFBR1	L199P, L276P, L280P	Loeys-Dietz syndrome 1	Likely pathogenic (Jun 16, 2020)	no assertion criteria provided
Select item 103409936.	NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg) GRCh37: Chr9:101904841 GRCh38: Chr9:99142559	TGFBR1	W281R, W277R, W200R	Loeys-Dietz syndrome 1	Likely pathogenic (Mar 30, 2018)	criteria provided, single submitter
Select item 95535437.	NM_004612.4(TGFBR1):c.833dup (p.Leu278fs) GRCh37: Chr9:101904843-101904844 GRCh38: Chr9:99142561-99142562	TGFBR1	L201fs, L278fs, L282fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 18, 2019)	criteria provided, single submitter
Select item 211464638.	NM_004612.4(TGFBR1):c.836T>C (p.Val279Ala) GRCh37: Chr9:101904848 GRCh38: Chr9:99142566	TGFBR1	V120A, V197A, V283A, V210A, V279A, V214A, V202A, V43A	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (May 10, 2022)	criteria provided, single submitter
Select item 203385239.	NM_004612.4(TGFBR1):c.839C>G (p.Ser280Ter) GRCh37: Chr9:101904851 GRCh38: Chr9:99142569	TGFBR1	S203, S211, S280, S284, S198, S121, S215, S44	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 132880240.	NM_004612.4(TGFBR1):c.844T>G (p.Tyr282Asp) GRCh37: Chr9:101904856 GRCh38: Chr9:99142574	TGFBR1	Y205D, Y282D, Y286D	not provided	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 57593341.	NM_004612.4(TGFBR1):c.860C>A (p.Ser287Tyr) GRCh37: Chr9:101904872 GRCh38: Chr9:99142590	TGFBR1	S287Y, S210Y, S291Y	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 21388242.	NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) GRCh37: Chr9:101904946 GRCh38: Chr9:99142664	TGFBR1	G312S, G235S, G316S	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, not provided, Loeys-Dietz syndrome	Pathogenic/Likely pathogenic (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106773943.	NM_004612.4(TGFBR1):c.943C>T (p.His315Tyr) GRCh37: Chr9:101904955 GRCh38: Chr9:99142673	TGFBR1	H238Y, H315Y, H319Y	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 40856944.	NM_004612.4(TGFBR1):c.944A>G (p.His315Arg) GRCh37: Chr9:101904956 GRCh38: Chr9:99142674	TGFBR1	H315R, H238R, H319R	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 1252045.	NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg) GRCh37: Chr9:101904965 GRCh38: Chr9:99142683	TGFBR1	M318R, M241R, M322R	Loeys-Dietz syndrome 1	Pathogenic (Mar 1, 2005)	no assertion criteria provided
Select item 63525046.	NM_004612.4(TGFBR1):c.974-2A>C GRCh37: Chr9:101907012 GRCh38: Chr9:99144730	TGFBR1		not provided	Likely pathogenic (Aug 17, 2016)	no assertion criteria provided
Select item 51713647.	NM_004612.4(TGFBR1):c.974-2A>G GRCh37: Chr9:101907012 GRCh38: Chr9:99144730	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic	no assertion criteria provided
Select item 176828048.	NM_004612.4(TGFBR1):c.980C>T (p.Pro327Leu) GRCh37: Chr9:101907020 GRCh38: Chr9:99144738	TGFBR1	P245L, P271L, P250L, P275L, P327L, P258L, P91L, P168L, P262L, P331L	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 106855149.	NM_004612.4(TGFBR1):c.1005A>T (p.Lys335Asn) GRCh37: Chr9:101907045 GRCh38: Chr9:99144763	TGFBR1	K258N, K335N, K339N	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 244296250.	NM_004612.4(TGFBR1):c.1040dup (p.Cys347fs) GRCh37: Chr9:101907079-101907080 GRCh38: Chr9:99144797-99144798	TGFBR1	C270fs, C347fs, C351fs	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 21388751.	NM_004612.4(TGFBR1):c.1052A>C (p.Asp351Ala) GRCh37: Chr9:101907092 GRCh38: Chr9:99144810	TGFBR1	D351A, D274A, D355A	not provided	Likely pathogenic (Apr 27, 2015)	criteria provided, single submitter
Select item 49284652.	NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val) GRCh37: Chr9:101907098 GRCh38: Chr9:99144816	TGFBR1	G353V, G357V, G276V	Loeys-Dietz syndrome	Pathogenic (Feb 15, 2017)	no assertion criteria provided
Select item 132705853.	NM_004612.4(TGFBR1):c.1059_1062delinsCAATAA (p.Leu354fs) GRCh37: Chr9:101907099-101907102 GRCh38: Chr9:99144817-99144820	TGFBR1	L277fs, L354fs, L358fs	Multiple self-healing squamous epithelioma	Likely pathogenic (May 25, 2021)	criteria provided, single submitter
Select item 180608554.	NM_004612.4(TGFBR1):c.1060C>A (p.Leu354Met) GRCh37: Chr9:101907100 GRCh38: Chr9:99144818	TGFBR1	L118M, L195M, L272M, L277M, L285M, L289M, L298M, L302M, L354M, L358M	Loeys-Dietz syndrome 1	Likely pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 52050555.	NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro) GRCh37: Chr9:101907101 GRCh38: Chr9:99144819	TGFBR1	L354P, L358P, L277P	Loeys-Dietz syndrome 1	Likely pathogenic (Jun 27, 2017)	criteria provided, single submitter
Select item 98551256.	NM_004612.4(TGFBR1):c.1124C>G (p.Thr375Arg) GRCh37: Chr9:101907164 GRCh38: Chr9:99144882	TGFBR1	T298R, T375R, T379R	Inborn genetic diseases, Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Nov 2, 2018)	criteria provided, single submitter
Select item 133276957.	NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn) GRCh37: Chr9:101908834 GRCh38: Chr9:99146552	TGFBR1	D323N, D400N, D404N	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1252158.	NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly) GRCh37: Chr9:101908835 GRCh38: Chr9:99146553	TGFBR1	D400G, D323G, D404G	Loeys-Dietz syndrome 1	Pathogenic (Mar 1, 2005)	no assertion criteria provided
Select item 2991859.	NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter) GRCh37: Chr9:101908876 GRCh38: Chr9:99146594	TGFBR1	R414, R418, R337*	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 51712160.	NM_004612.4(TGFBR1):c.1255+1G>A GRCh37: Chr9:101908892 GRCh38: Chr9:99146610	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic	no assertion criteria provided
Select item 26385661.	NM_004612.4(TGFBR1):c.1302_1303dup (p.Asp435fs) GRCh37: Chr9:101909981-101909982 GRCh38: Chr9:99147699-99147700	TGFBR1	D439fs, D435fs, D358fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 54781062.	NM_004612.4(TGFBR1):c.1303G>C (p.Asp435His) GRCh37: Chr9:101909983 GRCh38: Chr9:99147701	TGFBR1	D435H, D358H, D439H	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 146770163.	NM_004612.4(TGFBR1):c.1311_1313del (p.Val438del) GRCh37: Chr9:101909991-101909993 GRCh38: Chr9:99147709-99147711	TGFBR1	V361del, V442del, V438del	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Sep 24, 2021)	criteria provided, single submitter
Select item 152069464.	NM_004612.4(TGFBR1):c.1386dup (p.Ala463fs) GRCh37: Chr9:101910064-101910065 GRCh38: Chr9:99147782-99147783	TGFBR1	A467fs, A463fs, A386fs	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 177160665.	NM_004612.4(TGFBR1):c.1395_1396dup (p.Val466fs) GRCh37: Chr9:101911466-101911467 GRCh38: Chr9:99149184-99149185	TGFBR1	V470fs, V389fs, V466fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Mar 21, 2018)	criteria provided, single submitter
Select item 21389366.	NM_004612.4(TGFBR1):c.1420T>C (p.Cys474Arg) GRCh37: Chr9:101911495 GRCh38: Chr9:99149213	TGFBR1	C474R, C397R, C478R	not provided	Likely pathogenic (Feb 21, 2013)	criteria provided, single submitter
Select item 18053967.	NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) GRCh37: Chr9:101911519 GRCh38: Chr9:99149237	TGFBR1	R482G, R405G, R486G	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 85908968.	NM_004612.4(TGFBR1):c.1453_1473del (p.Ala485_Thr491del) GRCh37: Chr9:101911525-101911545 GRCh38: Chr9:99149243-99149263	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 62513469.	NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) GRCh37: Chr9:101911532 GRCh38: Chr9:99149250	TGFBR1	L486S, L409S, L490S	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1252670.	NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) GRCh37: Chr9:101911534 GRCh38: Chr9:99149252	TGFBR1	R487W, R410W, R491W	Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Multiple self-healing squamous epithelioma, Loeys-Dietz syndrome 1, not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Pathogenic/Likely pathogenic (Nov 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39095971.	NM_004612.4(TGFBR1):c.1460G>T (p.Arg487Leu) GRCh37: Chr9:101911535 GRCh38: Chr9:99149253	TGFBR1	R487L, R491L, R410L	not provided	Likely pathogenic (Nov 11, 2016)	criteria provided, single submitter
Select item 1252572.	NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) GRCh37: Chr9:101911535 GRCh38: Chr9:99149253	TGFBR1	R487Q, R410Q, R491Q	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1252373.	NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro) GRCh37: Chr9:101911535 GRCh38: Chr9:99149253	TGFBR1	R487P, R410P, R491P	Loeys-Dietz syndrome 1	Pathogenic (Aug 24, 2006)	no assertion criteria provided
Select item 180506974.	NM_004612.4(TGFBR1):c.1468A>G (p.Lys490Glu) GRCh37: Chr9:101911543 GRCh38: Chr9:99149261	TGFBR1	K254E, K331E, K408E, K413E, K421E, K425E, K434E, K438E, K490E, K494E	Loeys-Dietz syndrome 1	Likely pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 242518375.	NC_000009.11:g.(?_101867488)_(101867604_?)del GRCh37: Chr9:101867488-101867604	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (May 28, 2022)	criteria provided, single submitter
Select item 83062376.	NC_000009.12:g.(?_99142526)_(99150189_?)del GRCh37: Chr9:101904808-101912471	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 68496877.	GRCh37/hg19 9q22.33(chr9:101878960-101949121)x1 GRCh37: Chr9:101878960-101949121	TGFBR1		not provided	Pathogenic (Sep 20, 2018)	no assertion criteria provided

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Items: 77