ClinVar for MedGen (Select 766676) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24418641.	NM_003238.6(TGFB2):c.999A>T (p.Lys333Asn) GRCh37: Chr1:218610751 GRCh38: Chr1:218437409	TGFB2	K333N, K361N	Loeys-Dietz syndrome 4	Uncertain significance (Nov 14, 2022)	criteria provided, single submitter
Select item 24246592.	NC_000001.10:g.(?_218607404)_(218607810_?)dup GRCh37: Chr1:218607404-218607810	TGFB2		Loeys-Dietz syndrome 4	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 24187553.	NM_003238.6(TGFB2):c.701C>G (p.Ser234Cys) GRCh37: Chr1:218607737 GRCh38: Chr1:218434395	TGFB2	S234C, S262C	Loeys-Dietz syndrome 4	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 22018324.	NM_003238.6(TGFB2):c.234C>T (p.Leu78=) GRCh37: Chr1:218520277 GRCh38: Chr1:218346935	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 22003495.	NM_003238.6(TGFB2):c.933-14_933-13insG GRCh37: Chr1:218610671-218610672 GRCh38: Chr1:218437329-218437330	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 21982986.	NM_003238.6(TGFB2):c.265T>C (p.Cys89Arg) GRCh37: Chr1:218520308 GRCh38: Chr1:218346966	TGFB2	C89R	Loeys-Dietz syndrome 4	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 21972957.	NM_003238.6(TGFB2):c.919G>C (p.Ala307Pro) GRCh37: Chr1:218609476 GRCh38: Chr1:218436134	TGFB2	A335P, A307P	Loeys-Dietz syndrome 4	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 21943098.	NM_003238.6(TGFB2):c.244G>A (p.Ala82Thr) GRCh37: Chr1:218520287 GRCh38: Chr1:218346945	TGFB2	A82T	Loeys-Dietz syndrome 4	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 21916259.	NM_003238.6(TGFB2):c.173C>T (p.Pro58Leu) GRCh37: Chr1:218520216 GRCh38: Chr1:218346874	TGFB2	P58L	Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jan 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218919410.	NM_003238.6(TGFB2):c.1086+13C>T GRCh37: Chr1:218610851 GRCh38: Chr1:218437509	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 218683411.	NM_003238.6(TGFB2):c.159C>T (p.Pro53=) GRCh37: Chr1:218520202 GRCh38: Chr1:218346860	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 218027912.	NM_003238.6(TGFB2):c.463C>A (p.Gln155Lys) GRCh37: Chr1:218578627 GRCh38: Chr1:218405285	TGFB2	Q183K, Q155K	Loeys-Dietz syndrome 4	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 217755313.	NM_003238.6(TGFB2):c.79C>A (p.Leu27Ile) GRCh37: Chr1:218520122 GRCh38: Chr1:218346780	TGFB2	L27I	Loeys-Dietz syndrome 4	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 217661214.	NM_003238.6(TGFB2):c.183G>A (p.Glu61=) GRCh37: Chr1:218520226 GRCh38: Chr1:218346884	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 216507615.	NM_003238.6(TGFB2):c.755-5dup GRCh37: Chr1:218609301-218609302 GRCh38: Chr1:218435959-218435960	TGFB2		Loeys-Dietz syndrome 4	Benign (Oct 13, 2022)	criteria provided, single submitter
Select item 216146316.	NM_003238.6(TGFB2):c.541A>G (p.Thr181Ala) GRCh37: Chr1:218607454 GRCh38: Chr1:218434112	TGFB2	T181A, T209A	Loeys-Dietz syndrome 4	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 215191817.	NM_003238.6(TGFB2):c.589G>T (p.Glu197Ter) GRCh37: Chr1:218607502 GRCh38: Chr1:218434160	TGFB2	E197, E225	Loeys-Dietz syndrome 4	Pathogenic (Sep 3, 2022)	criteria provided, single submitter
Select item 214869618.	NM_003238.6(TGFB2):c.782G>A (p.Ser261Asn) GRCh37: Chr1:218609339 GRCh38: Chr1:218435997	TGFB2	S261N, S289N	Loeys-Dietz syndrome 4	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 214830219.	NM_003238.6(TGFB2):c.643+9C>A GRCh37: Chr1:218607565 GRCh38: Chr1:218434223	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 214498820.	NM_003238.6(TGFB2):c.809C>G (p.Thr270Ser) GRCh37: Chr1:218609366 GRCh38: Chr1:218436024	TGFB2	T298S, T270S	Loeys-Dietz syndrome 4	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 213933121.	NM_003238.6(TGFB2):c.933-18T>C GRCh37: Chr1:218610667 GRCh38: Chr1:218437325	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 213162722.	NM_003238.6(TGFB2):c.844C>A (p.Leu282Met) GRCh37: Chr1:218609401 GRCh38: Chr1:218436059	TGFB2	L310M, L282M	Loeys-Dietz syndrome 4	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 211384223.	NM_003238.6(TGFB2):c.152C>T (p.Thr51Ile) GRCh37: Chr1:218520195 GRCh38: Chr1:218346853	TGFB2	T51I	Loeys-Dietz syndrome 4	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 210082424.	NM_003238.6(TGFB2):c.792G>T (p.Gln264His) GRCh37: Chr1:218609349 GRCh38: Chr1:218436007	TGFB2	Q292H, Q264H	Loeys-Dietz syndrome 4	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209843425.	NM_003238.6(TGFB2):c.787G>T (p.Asp263Tyr) GRCh37: Chr1:218609344 GRCh38: Chr1:218436002	TGFB2	D263Y, D291Y	Loeys-Dietz syndrome 4	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 209449826.	NM_003238.6(TGFB2):c.1118A>G (p.Glu373Gly) GRCh37: Chr1:218614577 GRCh38: Chr1:218441235	TGFB2	E373G, E401G	Loeys-Dietz syndrome 4	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 209375827.	NM_003238.6(TGFB2):c.1204C>T (p.Gln402Ter) GRCh37: Chr1:218614663 GRCh38: Chr1:218441321	TGFB2	Q402, Q430	Loeys-Dietz syndrome 4	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 209262928.	NM_003238.6(TGFB2):c.19A>G (p.Ser7Gly) GRCh37: Chr1:218520062 GRCh38: Chr1:218346720	TGFB2	S7G	Loeys-Dietz syndrome 4	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 208627229.	NM_003238.6(TGFB2):c.663A>G (p.Lys221=) GRCh37: Chr1:218607699 GRCh38: Chr1:218434357	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 205626130.	NM_003238.6(TGFB2):c.174T>G (p.Pro58=) GRCh37: Chr1:218520217 GRCh38: Chr1:218346875	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 205488931.	NM_003238.6(TGFB2):c.197_199dup (p.Glu66_Val67insGlu) GRCh37: Chr1:218520237-218520238 GRCh38: Chr1:218346895-218346896	TGFB2		Loeys-Dietz syndrome 4	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 205089732.	NM_003238.6(TGFB2):c.755-18C>T GRCh37: Chr1:218609294 GRCh38: Chr1:218435952	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 204883233.	NM_003238.6(TGFB2):c.975T>C (p.Asp325=) GRCh37: Chr1:218610727 GRCh38: Chr1:218437385	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 203760634.	NM_003238.6(TGFB2):c.504A>G (p.Leu168=) GRCh37: Chr1:218578668 GRCh38: Chr1:218405326	TGFB2		Loeys-Dietz syndrome 4	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 203480435.	NM_003238.6(TGFB2):c.1086+10C>T GRCh37: Chr1:218610848 GRCh38: Chr1:218437506	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 203144736.	NM_003238.6(TGFB2):c.765del (p.Thr256fs) GRCh37: Chr1:218609322 GRCh38: Chr1:218435980	TGFB2	T284fs, T256fs	Loeys-Dietz syndrome 4	Pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 203109537.	NM_003238.6(TGFB2):c.759T>C (p.Ile253=) GRCh37: Chr1:218609316 GRCh38: Chr1:218435974	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 201746038.	NM_003238.6(TGFB2):c.755-6T>C GRCh37: Chr1:218609306 GRCh38: Chr1:218435964	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 201400139.	NM_003238.6(TGFB2):c.306G>T (p.Glu102Asp) GRCh37: Chr1:218520349 GRCh38: Chr1:218347007	TGFB2	E102D	Loeys-Dietz syndrome 4	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 200246040.	NM_003238.6(TGFB2):c.655G>T (p.Gly219Ter) GRCh37: Chr1:218607691 GRCh38: Chr1:218434349	TGFB2	G219, G247	Loeys-Dietz syndrome 4	Pathogenic (Jun 4, 2022)	criteria provided, single submitter
Select item 197686541.	NM_003238.6(TGFB2):c.112G>C (p.Glu38Gln) GRCh37: Chr1:218520155 GRCh38: Chr1:218346813	TGFB2	E38Q	Loeys-Dietz syndrome 4	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 197006842.	NM_003238.6(TGFB2):c.924T>C (p.Tyr308=) GRCh37: Chr1:218609481 GRCh38: Chr1:218436139	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 196884943.	NM_003238.6(TGFB2):c.1100A>G (p.Tyr367Cys) GRCh37: Chr1:218614559 GRCh38: Chr1:218441217	TGFB2	Y395C, Y367C	Loeys-Dietz syndrome 4	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 196884144.	NM_003238.6(TGFB2):c.885G>A (p.Gln295=) GRCh37: Chr1:218609442 GRCh38: Chr1:218436100	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 193859245.	NM_003238.6(TGFB2):c.255G>A (p.Arg85=) GRCh37: Chr1:218520298 GRCh38: Chr1:218346956	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 193839246.	NM_003238.6(TGFB2):c.754+7A>G GRCh37: Chr1:218607797 GRCh38: Chr1:218434455	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 192974147.	NM_003238.6(TGFB2):c.1071C>T (p.Asp357=) GRCh37: Chr1:218610823 GRCh38: Chr1:218437481	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 192959948.	NM_003238.6(TGFB2):c.937G>C (p.Val313Leu) GRCh37: Chr1:218610689 GRCh38: Chr1:218437347	TGFB2	V313L, V341L	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4	Uncertain significance (Dec 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 189606549.	NM_003238.6(TGFB2):c.1070A>G (p.Asp357Gly) GRCh37: Chr1:218610822 GRCh38: Chr1:218437480	TGFB2	D357G, D385G	Loeys-Dietz syndrome 4	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 180499750.	NM_003238.6(TGFB2):c.127C>T (p.Gln43Ter) GRCh37: Chr1:218520170 GRCh38: Chr1:218346828	TGFB2	Q43*	Loeys-Dietz syndrome 4	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 180499651.	NM_003238.6(TGFB2):c.933-1G>A GRCh37: Chr1:218610684 GRCh38: Chr1:218437342	TGFB2		Loeys-Dietz syndrome 4	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 179769052.	NM_003238.6(TGFB2):c.291G>A (p.Glu97=) GRCh37: Chr1:218520334 GRCh38: Chr1:218346992	TGFB2		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4	Likely benign (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171942253.	NM_003238.6(TGFB2):c.1048T>C (p.Cys350Arg) GRCh37: Chr1:218610800 GRCh38: Chr1:218437458	TGFB2	C350R, C378R	Loeys-Dietz syndrome 4	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 170916554.	NM_003238.6(TGFB2):c.754+1G>A GRCh37: Chr1:218607791 GRCh38: Chr1:218434449	TGFB2		Loeys-Dietz syndrome 4	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 170792055.	NM_003238.6(TGFB2):c.1236dup (p.Cys413fs) GRCh37: Chr1:218614692-218614693 GRCh38: Chr1:218441350-218441351	TGFB2	C413fs, C441fs	Loeys-Dietz syndrome 4, not provided	Uncertain significance (Jun 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170001756.	NM_003238.6(TGFB2):c.932+4A>G GRCh37: Chr1:218609493 GRCh38: Chr1:218436151	TGFB2		Loeys-Dietz syndrome 4	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 166921757.	NM_003238.6(TGFB2):c.1230T>C (p.Ser410=) GRCh37: Chr1:218614689 GRCh38: Chr1:218441347	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Jun 20, 2021)	criteria provided, single submitter
Select item 166515558.	NM_003238.6(TGFB2):c.810T>G (p.Thr270=) GRCh37: Chr1:218609367 GRCh38: Chr1:218436025	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Dec 31, 2020)	criteria provided, single submitter
Select item 166082359.	NM_003238.6(TGFB2):c.1086+20G>C GRCh37: Chr1:218610858 GRCh38: Chr1:218437516	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 165912160.	NM_003238.6(TGFB2):c.243G>A (p.Lys81=) GRCh37: Chr1:218520286 GRCh38: Chr1:218346944	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Dec 4, 2020)	criteria provided, single submitter
Select item 165554961.	NM_003238.6(TGFB2):c.510+12TTG[6] GRCh37: Chr1:218578686-218578697 GRCh38: Chr1:218405344-218405355	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Aug 3, 2021)	criteria provided, single submitter
Select item 164217562.	NM_003238.6(TGFB2):c.142C>T (p.Leu48=) GRCh37: Chr1:218520185 GRCh38: Chr1:218346843	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Mar 25, 2021)	criteria provided, single submitter
Select item 161961063.	NM_003238.6(TGFB2):c.285C>A (p.Asp95Glu) GRCh37: Chr1:218520328 GRCh38: Chr1:218346986	TGFB2	D95E	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4	Conflicting interpretations of pathogenicity (Jan 15, 2023)	criteria provided, conflicting interpretations
Select item 161778064.	NM_003238.6(TGFB2):c.1107C>A (p.Thr369=) GRCh37: Chr1:218614566 GRCh38: Chr1:218441224	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Nov 18, 2021)	criteria provided, single submitter
Select item 161672365.	NM_003238.6(TGFB2):c.932+16G>A GRCh37: Chr1:218609505 GRCh38: Chr1:218436163	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Nov 12, 2021)	criteria provided, single submitter
Select item 160413966.	NM_003238.6(TGFB2):c.117G>C (p.Ala39=) GRCh37: Chr1:218520160 GRCh38: Chr1:218346818	TGFB2		Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Mar 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 159751867.	NM_003238.6(TGFB2):c.441A>T (p.Ala147=) GRCh37: Chr1:218578605 GRCh38: Chr1:218405263	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Mar 22, 2021)	criteria provided, single submitter
Select item 159712668.	NM_003238.6(TGFB2):c.864C>G (p.Ser288=) GRCh37: Chr1:218609421 GRCh38: Chr1:218436079	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Jun 5, 2021)	criteria provided, single submitter
Select item 159607469.	NM_003238.6(TGFB2):c.895C>A (p.Arg299=) GRCh37: Chr1:218609452 GRCh38: Chr1:218436110	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Feb 1, 2021)	criteria provided, single submitter
Select item 159280470.	NM_003238.6(TGFB2):c.510+12TTG[15] GRCh37: Chr1:218578685-218578686 GRCh38: Chr1:218405343-218405344	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 159189771.	NM_003238.6(TGFB2):c.828G>A (p.Gly276=) GRCh37: Chr1:218609385 GRCh38: Chr1:218436043	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Jan 25, 2021)	criteria provided, single submitter
Select item 158655572.	NM_003238.6(TGFB2):c.217A>G (p.Ser73Gly) GRCh37: Chr1:218520260 GRCh38: Chr1:218346918	TGFB2	S73G	Loeys-Dietz syndrome 4	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 158393673.	NM_003238.6(TGFB2):c.57C>T (p.Leu19=) GRCh37: Chr1:218520100 GRCh38: Chr1:218346758	TGFB2		Loeys-Dietz syndrome 4	Likely benign (May 8, 2021)	criteria provided, single submitter
Select item 157964674.	NM_003238.6(TGFB2):c.306G>A (p.Glu102=) GRCh37: Chr1:218520349 GRCh38: Chr1:218347007	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 157662975.	NM_003238.6(TGFB2):c.543C>G (p.Thr181=) GRCh37: Chr1:218607456 GRCh38: Chr1:218434114	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Aug 7, 2021)	criteria provided, single submitter
Select item 157316376.	NM_003238.6(TGFB2):c.1227G>A (p.Lys409=) GRCh37: Chr1:218614686 GRCh38: Chr1:218441344	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 156275677.	NM_003238.6(TGFB2):c.111C>A (p.Ile37=) GRCh37: Chr1:218520154 GRCh38: Chr1:218346812	TGFB2		Loeys-Dietz syndrome 4	Likely benign (May 26, 2021)	criteria provided, single submitter
Select item 156121378.	NM_003238.6(TGFB2):c.510+12TTG[7] GRCh37: Chr1:218578686-218578694 GRCh38: Chr1:218405344-218405352	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 155748279.	NM_003238.6(TGFB2):c.40C>T (p.Leu14=) GRCh37: Chr1:218520083 GRCh38: Chr1:218346741	TGFB2		Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154427080.	NM_003238.6(TGFB2):c.510+12TTG[14] GRCh37: Chr1:218578685-218578686 GRCh38: Chr1:218405343-218405344	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 154262781.	NM_003238.6(TGFB2):c.933-9T>C GRCh37: Chr1:218610676 GRCh38: Chr1:218437334	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Mar 22, 2021)	criteria provided, single submitter
Select item 153878882.	NM_003238.6(TGFB2):c.346+20T>A GRCh37: Chr1:218520409 GRCh38: Chr1:218347067	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 153381883.	NM_003238.6(TGFB2):c.1080C>T (p.His360=) GRCh37: Chr1:218610832 GRCh38: Chr1:218437490	TGFB2		Loeys-Dietz syndrome 4	Likely benign (Feb 15, 2021)	criteria provided, single submitter
Select item 151354184.	NM_003238.6(TGFB2):c.164A>G (p.Glu55Gly) GRCh37: Chr1:218520207 GRCh38: Chr1:218346865	TGFB2	E55G	Loeys-Dietz syndrome 4	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 150332685.	NM_003238.6(TGFB2):c.377A>G (p.Tyr126Cys) GRCh37: Chr1:218578541 GRCh38: Chr1:218405199	TGFB2	Y126C, Y154C	Loeys-Dietz syndrome 4	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 149976486.	NM_003238.6(TGFB2):c.982A>G (p.Arg328Gly) GRCh37: Chr1:218610734 GRCh38: Chr1:218437392	TGFB2	R356G, R328G	Loeys-Dietz syndrome 4	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 149836387.	NM_003238.6(TGFB2):c.619G>A (p.Val207Ile) GRCh37: Chr1:218607532 GRCh38: Chr1:218434190	TGFB2	V235I, V207I	Loeys-Dietz syndrome 4	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 149070188.	NM_003238.6(TGFB2):c.116C>T (p.Ala39Val) GRCh37: Chr1:218520159 GRCh38: Chr1:218346817	TGFB2	A39V	Loeys-Dietz syndrome 4	Uncertain significance (Nov 24, 2021)	criteria provided, single submitter
Select item 146784589.	NM_003238.6(TGFB2):c.1221T>G (p.Ile407Met) GRCh37: Chr1:218614680 GRCh38: Chr1:218441338	TGFB2	I435M, I407M	Loeys-Dietz syndrome 4	Uncertain significance (Nov 7, 2021)	criteria provided, single submitter
Select item 146213390.	NM_003238.6(TGFB2):c.923A>G (p.Tyr308Cys) GRCh37: Chr1:218609480 GRCh38: Chr1:218436138	TGFB2	Y336C, Y308C	Loeys-Dietz syndrome 4	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 146077191.	NM_003238.6(TGFB2):c.64_66del (p.Ser22del) GRCh37: Chr1:218520107-218520109 GRCh38: Chr1:218346765-218346767	TGFB2	S22del	Loeys-Dietz syndrome 4	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 145854692.	NM_003238.6(TGFB2):c.868dup (p.Arg290fs) GRCh37: Chr1:218609424-218609425 GRCh38: Chr1:218436082-218436083	TGFB2	R290fs, R318fs	Loeys-Dietz syndrome 4	Pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 145816893.	NC_000001.10:g.(?_218520044)_(218614704_?)del GRCh37: Chr1:218520044-218614704	TGFB2		Loeys-Dietz syndrome 4	Pathogenic (Sep 16, 2021)	criteria provided, single submitter
Select item 145570494.	NC_000001.10:g.(?_218520044)_(218607810_?)del GRCh37: Chr1:218520044-218607810	TGFB2		Loeys-Dietz syndrome 4	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 145294095.	NM_003238.6(TGFB2):c.171T>A (p.Tyr57Ter) GRCh37: Chr1:218520214 GRCh38: Chr1:218346872	TGFB2	Y57*	Loeys-Dietz syndrome 4	Pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 145293996.	NM_003238.6(TGFB2):c.196del (p.Glu66fs) GRCh37: Chr1:218520238 GRCh38: Chr1:218346896	TGFB2	E66fs	Loeys-Dietz syndrome 4	Pathogenic (Nov 6, 2021)	criteria provided, single submitter
Select item 145138897.	NM_003238.6(TGFB2):c.145A>T (p.Lys49Ter) GRCh37: Chr1:218520188 GRCh38: Chr1:218346846	TGFB2	K49*	Loeys-Dietz syndrome 4	Pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 145098698.	NM_003238.6(TGFB2):c.826G>A (p.Gly276Arg) GRCh37: Chr1:218609383 GRCh38: Chr1:218436041	TGFB2	G304R, G276R	Loeys-Dietz syndrome 4	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 144897899.	NM_003238.6(TGFB2):c.1235A>C (p.Lys412Thr) GRCh37: Chr1:218614694 GRCh38: Chr1:218441352	TGFB2	K440T, K412T	Loeys-Dietz syndrome 4	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 1441286100.	NM_003238.6(TGFB2):c.125G>A (p.Gly42Glu) GRCh37: Chr1:218520168 GRCh38: Chr1:218346826	TGFB2	G42E	Loeys-Dietz syndrome 4	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter

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