ClinVar for MedGen (Select 1646567) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18062771.	NM_004612.4(TGFBR1):c.1442C>T (p.Ala481Val) GRCh37: Chr9:101911517 GRCh38: Chr9:99149235	TGFBR1	A245V, A322V, A399V, A404V, A412V, A416V, A425V, A429V, A481V, A485V	Loeys-Dietz syndrome 1	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 18060852.	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 18059793.	NM_004612.4(TGFBR1):c.98-1G>A GRCh37: Chr9:101891136 GRCh38: Chr9:99128854	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 18050694.	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 17096405.	NM_004612.4(TGFBR1):c.1488T>A (p.Ser496Arg) GRCh37: Chr9:101911563 GRCh38: Chr9:99149281	TGFBR1	S260R, S337R, S414R, S419R, S427R, S431R, S440R, S444R, S496R, S500R	Loeys-Dietz syndrome 1	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 17091706.	NM_005901.6(SMAD2):c.507_508del (p.Arg169fs) GRCh37: Chr18:45395626-45395627 GRCh38: Chr18:47869255-47869256	SMAD2	R139fs, R169fs	Loeys-Dietz syndrome 1	Likely pathogenic (Feb 16, 2022)	criteria provided, single submitter
Select item 16992627.	NM_004612.4(TGFBR1):c.569G>T (p.Gly190Val) GRCh37: Chr9:101895016 GRCh38: Chr9:99132734	TGFBR1	G190V, G194V	Loeys-Dietz syndrome 1	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 16982608.	NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp) GRCh37: Chr9:101904969 GRCh38: Chr9:99142687	TGFBR1	E242D, E319D, E323D	not provided, Multiple self-healing squamous epithelioma, Loeys-Dietz syndrome 1	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15278519.	NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer) GRCh37: Chr9:101894810-101894811 GRCh38: Chr9:99132528-99132529	TGFBR1		Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 142567810.	NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del) GRCh37: Chr9:101867538-101867555 GRCh38: Chr9:99105256-99105273	TGFBR1		Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135614811.	NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro) GRCh37: Chr9:101867528 GRCh38: Chr9:99105246	TGFBR1	L14P	Multiple self-healing squamous epithelioma, Loeys-Dietz syndrome 1, Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133347212.	NM_004612.4(TGFBR1):c.994A>G (p.Arg332Gly) GRCh37: Chr9:101907034 GRCh38: Chr9:99144752	TGFBR1	R255G, R332G, R336G	Loeys-Dietz syndrome 1	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 133276913.	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 132027014.	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 108125415.	NM_004612.4(TGFBR1):c.516A>G (p.Ser172=) GRCh37: Chr9:101894963 GRCh38: Chr9:99132681	TGFBR1		Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 103409916.	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 99236217.	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 94902018.	NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp) GRCh37: Chr9:101900239 GRCh38: Chr9:99137957	TGFBR1	R225W, R229W, R148W	Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Aug 26, 2021)	criteria provided, conflicting interpretations
Select item 94061219.	NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met) GRCh37: Chr9:101904938 GRCh38: Chr9:99142656	TGFBR1	T309M, T232M, T313M	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93474420.	NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg) GRCh37: Chr9:101867575 GRCh38: Chr9:99105293	TGFBR1	G30R	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92843121.	NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=) GRCh37: Chr9:101907105 GRCh38: Chr9:99144823	TGFBR1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma	Uncertain significance (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92727622.	NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser) GRCh37: Chr9:101907131 GRCh38: Chr9:99144849	TGFBR1	T364S, T287S, T368S	Familial thoracic aortic aneurysm and aortic dissection, Multiple self-healing squamous epithelioma, Loeys-Dietz syndrome 1, not provided	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 91971823.	NM_004612.4(TGFBR1):c.529T>C (p.Leu177=) GRCh37: Chr9:101894976 GRCh38: Chr9:99132694	TGFBR1		Multiple self-healing squamous epithelioma, Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91913624.	NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser) GRCh37: Chr9:101907080 GRCh38: Chr9:99144798	TGFBR1	C347S, C351S, C270S	Multiple self-healing squamous epithelioma, Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91488225.	NM_004612.4(TGFBR1):c.*4219G>A GRCh37: Chr9:101915806 GRCh38: Chr9:99153524	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91488126.	NM_004612.4(TGFBR1):c.*4040T>A GRCh37: Chr9:101915627 GRCh38: Chr9:99153345	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91488027.	NM_004612.4(TGFBR1):c.*3839A>C GRCh37: Chr9:101915426 GRCh38: Chr9:99153144	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91483828.	NM_004612.4(TGFBR1):c.*2846A>G GRCh37: Chr9:101914433 GRCh38: Chr9:99152151	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91480729.	NM_004612.4(TGFBR1):c.*1910A>G GRCh37: Chr9:101913497 GRCh38: Chr9:99151215	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91480630.	NM_004612.4(TGFBR1):c.*1792C>A GRCh37: Chr9:101913379 GRCh38: Chr9:99151097	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91480531.	NM_004612.4(TGFBR1):c.*1759C>A GRCh37: Chr9:101913346 GRCh38: Chr9:99151064	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91476332.	NM_004612.4(TGFBR1):c.*469T>C GRCh37: Chr9:101912056 GRCh38: Chr9:99149774	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91476233.	NM_004612.4(TGFBR1):c.*456G>T GRCh37: Chr9:101912043 GRCh38: Chr9:99149761	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91476134.	NM_004612.4(TGFBR1):c.*441C>T GRCh37: Chr9:101912028 GRCh38: Chr9:99149746	TGFBR1		not provided, Loeys-Dietz syndrome 1	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 91476035.	NM_004612.4(TGFBR1):c.*408C>T GRCh37: Chr9:101911995 GRCh38: Chr9:99149713	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91475936.	NM_004612.4(TGFBR1):c.*372T>C GRCh37: Chr9:101911959 GRCh38: Chr9:99149677	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91475837.	NM_004612.4(TGFBR1):c.*339G>T GRCh37: Chr9:101911926 GRCh38: Chr9:99149644	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 91470738.	NM_004612.4(TGFBR1):c.-31G>A GRCh37: Chr9:101867457 GRCh38: Chr9:99105175	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91470639.	NM_004612.4(TGFBR1):c.-56G>A GRCh37: Chr9:101867432 GRCh38: Chr9:99105150	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91437840.	NM_004612.4(TGFBR1):c.*3779C>T GRCh37: Chr9:101915366 GRCh38: Chr9:99153084	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91434341.	NM_004612.4(TGFBR1):c.*2554A>T GRCh37: Chr9:101914141 GRCh38: Chr9:99151859	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91434242.	NM_004612.4(TGFBR1):c.*2411G>C GRCh37: Chr9:101913998 GRCh38: Chr9:99151716	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91434143.	NM_004612.4(TGFBR1):c.*2409A>G GRCh37: Chr9:101913996 GRCh38: Chr9:99151714	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91430144.	NM_004612.4(TGFBR1):c.*1343T>C GRCh37: Chr9:101912930 GRCh38: Chr9:99150648	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91426245.	NM_004612.4(TGFBR1):c.*250T>A GRCh37: Chr9:101911837 GRCh38: Chr9:99149555	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91426146.	NM_004612.4(TGFBR1):c.*247T>C GRCh37: Chr9:101911834 GRCh38: Chr9:99149552	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91321847.	NM_004612.4(TGFBR1):c.*2290T>C GRCh37: Chr9:101913877 GRCh38: Chr9:99151595	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91321748.	NM_004612.4(TGFBR1):c.*2112G>T GRCh37: Chr9:101913699 GRCh38: Chr9:99151417	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91321649.	NM_004612.4(TGFBR1):c.*2101T>G GRCh37: Chr9:101913688 GRCh38: Chr9:99151406	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91316550.	NM_004612.4(TGFBR1):c.*1240G>A GRCh37: Chr9:101912827 GRCh38: Chr9:99150545	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91316451.	NM_004612.4(TGFBR1):c.*1159T>G GRCh37: Chr9:101912746 GRCh38: Chr9:99150464	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91293552.	NM_004612.4(TGFBR1):c.*4445C>G GRCh37: Chr9:101916032 GRCh38: Chr9:99153750	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91293453.	NM_004612.4(TGFBR1):c.*4366A>G GRCh37: Chr9:101915953 GRCh38: Chr9:99153671	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91293354.	NM_004612.4(TGFBR1):c.*4295C>T GRCh37: Chr9:101915882 GRCh38: Chr9:99153600	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91293255.	NM_004612.4(TGFBR1):c.*4293A>G GRCh37: Chr9:101915880 GRCh38: Chr9:99153598	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91293156.	NM_004612.4(TGFBR1):c.*4278C>T GRCh37: Chr9:101915865 GRCh38: Chr9:99153583	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91288957.	NM_004612.4(TGFBR1):c.*3150C>T GRCh37: Chr9:101914737 GRCh38: Chr9:99152455	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91288858.	NM_004612.4(TGFBR1):c.*3095A>G GRCh37: Chr9:101914682 GRCh38: Chr9:99152400	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91288759.	NM_004612.4(TGFBR1):c.*3059A>G GRCh37: Chr9:101914646 GRCh38: Chr9:99152364	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91288660.	NM_004612.4(TGFBR1):c.*2943A>G GRCh37: Chr9:101914530 GRCh38: Chr9:99152248	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91280261.	NM_004612.4(TGFBR1):c.*1080A>C GRCh37: Chr9:101912667 GRCh38: Chr9:99150385	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91280162.	NM_004612.4(TGFBR1):c.*913C>T GRCh37: Chr9:101912500 GRCh38: Chr9:99150218	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91280063.	NM_004612.4(TGFBR1):c.*502T>G GRCh37: Chr9:101912089 GRCh38: Chr9:99149807	TGFBR1		Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91275364.	NM_004612.4(TGFBR1):c.296A>G (p.Tyr99Cys) GRCh37: Chr9:101891335 GRCh38: Chr9:99129053	TGFBR1	Y99C	Loeys-Dietz syndrome 1, Ehlers-Danlos syndrome	Uncertain significance (May 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 86129365.	NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr) GRCh37: Chr9:101911496 GRCh38: Chr9:99149214	TGFBR1	C397Y, C474Y, C478Y	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Conflicting interpretations of pathogenicity (Jan 14, 2022)	criteria provided, conflicting interpretations
Select item 80048966.	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 69468567.	NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter) GRCh37: Chr3:30729991 GRCh38: Chr3:30688499	TGFBR2	W504, W529, W214, W505, W384, W513, W409, W469, W503, W540, W565*	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Pathogenic/Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69201368.	NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) GRCh37: Chr9:101900329 GRCh38: Chr9:99138047	TGFBR1	R178C, R255C, R259C	Loeys-Dietz syndrome 1	Conflicting interpretations of pathogenicity (Feb 8, 2021)	criteria provided, conflicting interpretations
Select item 65965969.	NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys) GRCh37: Chr9:101894898 GRCh38: Chr9:99132616	TGFBR1	R151C, R155C	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma, not provided	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65227670.	NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser) GRCh37: Chr9:101911521 GRCh38: Chr9:99149239	TGFBR1	R482S, R405S, R486S	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Conflicting interpretations of pathogenicity (Aug 26, 2021)	criteria provided, conflicting interpretations
Select item 63686671.	NM_004612.4(TGFBR1):c.847_849del (p.His283del) GRCh37: Chr9:101904857-101904859 GRCh38: Chr9:99142575-99142577	TGFBR1	H283del, H287del, H206del	not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63525172.	NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) GRCh37: Chr9:101900171 GRCh38: Chr9:99137889	TGFBR1	A202V, A125V, A206V	not provided, Isolated thoracic aortic aneurysm, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Apr 10, 2022)	criteria provided, conflicting interpretations
Select item 62677573.	NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=) GRCh37: Chr9:101907105 GRCh38: Chr9:99144823	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 62436374.	NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) GRCh37: Chr9:101909965 GRCh38: Chr9:99147683	TGFBR1	Y429H, Y352H, Y433H	not provided, Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61842875.	NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) GRCh37: Chr9:101891238 GRCh38: Chr9:99128956	TGFBR1	H67Y	Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma, not provided, Familial thoracic aortic aneurysm and aortic dissection, not specified	Uncertain significance (Nov 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54389376.	NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup) GRCh37: Chr9:101867537-101867538 GRCh38: Chr9:99105255-99105256	TGFBR1		Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 52050577.	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 52050478.	NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala) GRCh37: Chr9:101900300 GRCh38: Chr9:99138018	TGFBR1	E245A, E168A, E249A	Loeys-Dietz syndrome 1	Uncertain significance (Jun 12, 2016)	criteria provided, single submitter
Select item 52021679.	NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val) GRCh37: Chr9:101904941 GRCh38: Chr9:99142659	TGFBR1	A310V, A314V, A233V	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48862180.	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 47756481.	NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile) GRCh37: Chr9:101904901 GRCh38: Chr9:99142619	TGFBR1	V297I, V220I, V301I	Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47756382.	NM_004612.4(TGFBR1):c.848A>G (p.His283Arg) GRCh37: Chr9:101904860 GRCh38: Chr9:99142578	TGFBR1	H283R, H206R, H287R	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Conflicting interpretations of pathogenicity (Aug 27, 2021)	criteria provided, conflicting interpretations
Select item 38935083.	NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) GRCh37: Chr9:101900148 GRCh38: Chr9:99137866	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, not specified	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 36419484.	NM_004612.4(TGFBR1):c.*4809A>T GRCh37: Chr9:101916396 GRCh38: Chr9:99154114	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36419385.	NM_004612.4(TGFBR1):c.*4793A>G GRCh37: Chr9:101916380 GRCh38: Chr9:99154098	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36419286.	NM_004612.4(TGFBR1):c.*4804dup GRCh37: Chr9:101916380-101916381 GRCh38: Chr9:99154098-99154099	TGFBR1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Conflicting interpretations of pathogenicity (Oct 19, 2021)	criteria provided, conflicting interpretations
Select item 36419187.	NM_004612.4(TGFBR1):c.*4728G>A GRCh37: Chr9:101916315 GRCh38: Chr9:99154033	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36419088.	NM_004612.4(TGFBR1):c.*4623G>C GRCh37: Chr9:101916210 GRCh38: Chr9:99153928	TGFBR1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 36418989.	NM_004612.4(TGFBR1):c.*4578T>G GRCh37: Chr9:101916165 GRCh38: Chr9:99153883	TGFBR1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Benign (Feb 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36418890.	NM_004612.4(TGFBR1):c.*4565T>C GRCh37: Chr9:101916152 GRCh38: Chr9:99153870	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36418791.	NM_004612.4(TGFBR1):c.*4499G>A GRCh37: Chr9:101916086 GRCh38: Chr9:99153804	TGFBR1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Likely benign (May 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36418692.	NM_004612.4(TGFBR1):c.*4493G>A GRCh37: Chr9:101916080 GRCh38: Chr9:99153798	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36418593.	NM_004612.4(TGFBR1):c.*4489T>C GRCh37: Chr9:101916076 GRCh38: Chr9:99153794	TGFBR1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Benign (May 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36418494.	NM_004612.4(TGFBR1):c.*4467C>A GRCh37: Chr9:101916054 GRCh38: Chr9:99153772	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36418395.	NM_004612.4(TGFBR1):c.*4356A>G GRCh37: Chr9:101915943 GRCh38: Chr9:99153661	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 36418296.	NM_004612.4(TGFBR1):c.*4300C>T GRCh37: Chr9:101915887 GRCh38: Chr9:99153605	TGFBR1		not provided, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (May 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36418197.	NM_004612.4(TGFBR1):c.*4202A>G GRCh37: Chr9:101915789 GRCh38: Chr9:99153507	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36418098.	NM_004612.4(TGFBR1):c.*4147G>A GRCh37: Chr9:101915734 GRCh38: Chr9:99153452	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36417999.	NM_004612.4(TGFBR1):c.*4088G>T GRCh37: Chr9:101915675 GRCh38: Chr9:99153393	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 364178100.	NM_004612.4(TGFBR1):c.*4055G>T GRCh37: Chr9:101915642 GRCh38: Chr9:99153360	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter

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