ClinVar for MedGen (Select 382398) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24443331.	NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter) GRCh37: Chr3:30732949 GRCh38: Chr3:30691457	TGFBR2	W231, W401, W426, W486, W520, W521, W522, W530, W546, W557, W582*	Loeys-Dietz syndrome 2	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24314942.	NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp) GRCh37: Chr3:30648382 GRCh38: Chr3:30606890	TGFBR2	R3W	Loeys-Dietz syndrome 2	Uncertain significance (Nov 25, 2022)	criteria provided, single submitter
Select item 24246653.	NC_000012.11:g.(?_98909646)_(98909944_?)dup GRCh37: Chr12:98909646-98909944	TMPO		Loeys-Dietz syndrome 2	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 24170684.	NM_001032283.3(TMPO):c.565+1595T>G GRCh37: Chr12:98927211 GRCh38: Chr12:98533433	TMPO	S392R	Loeys-Dietz syndrome 2	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 21984765.	NM_001032283.3(TMPO):c.105C>T (p.Asp35=) GRCh37: Chr12:98909750 GRCh38: Chr12:98515972	TMPO, TMPO-AS1		Loeys-Dietz syndrome 2	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 21904756.	NM_001032283.3(TMPO):c.280-4A>G GRCh37: Chr12:98921660 GRCh38: Chr12:98527882	TMPO		Loeys-Dietz syndrome 2	Likely benign (Sep 25, 2019)	criteria provided, single submitter
Select item 21888357.	NM_001032283.3(TMPO):c.565+2362T>C GRCh37: Chr12:98927978 GRCh38: Chr12:98534200	TMPO	V648A	Loeys-Dietz syndrome 2	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 21794128.	NM_001032283.3(TMPO):c.565+1643A>G GRCh37: Chr12:98927259 GRCh38: Chr12:98533481	TMPO	I408M	Loeys-Dietz syndrome 2	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 21780829.	NM_001032283.3(TMPO):c.565+1007A>G GRCh37: Chr12:98926623 GRCh38: Chr12:98532845	TMPO		Loeys-Dietz syndrome 2	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 216968410.	NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del) GRCh37: Chr12:98925523-98925525 GRCh38: Chr12:98531745-98531747	TMPO	S159del	Loeys-Dietz syndrome 2	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 216483711.	NM_001032283.3(TMPO):c.423A>G (p.Leu141=) GRCh37: Chr12:98925474 GRCh38: Chr12:98531696	TMPO		Loeys-Dietz syndrome 2	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 216305812.	NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu) GRCh37: Chr12:98909650 GRCh38: Chr12:98515872	TMPO-AS1, TMPO	P2L	Loeys-Dietz syndrome 2	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 215737113.	NM_001032283.3(TMPO):c.565+1272del GRCh37: Chr12:98926888 GRCh38: Chr12:98533110	TMPO	D285fs	Loeys-Dietz syndrome 2	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 215690214.	NM_001032283.3(TMPO):c.407-4C>T GRCh37: Chr12:98925454 GRCh38: Chr12:98531676	TMPO		Loeys-Dietz syndrome 2	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 215490315.	NM_001032283.3(TMPO):c.565+1536_565+1543del GRCh37: Chr12:98927149-98927156 GRCh38: Chr12:98533371-98533378	TMPO	L373fs	Loeys-Dietz syndrome 2	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 215239916.	NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe) GRCh37: Chr12:98909874 GRCh38: Chr12:98516096	TMPO, TMPO-AS1	L77F	Loeys-Dietz syndrome 2	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 215108817.	NM_001032283.3(TMPO):c.565+2220G>A GRCh37: Chr12:98927836 GRCh38: Chr12:98534058	TMPO	A601T	Loeys-Dietz syndrome 2	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 214182718.	NM_001032283.3(TMPO):c.280-18A>G GRCh37: Chr12:98921646 GRCh38: Chr12:98527868	TMPO		Loeys-Dietz syndrome 2	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 214011319.	NM_001032283.3(TMPO):c.565+2180C>T GRCh37: Chr12:98927796 GRCh38: Chr12:98534018	TMPO		Loeys-Dietz syndrome 2	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 212659620.	NM_001032283.3(TMPO):c.482C>A (p.Pro161His) GRCh37: Chr12:98925533 GRCh38: Chr12:98531755	TMPO	P161H	Loeys-Dietz syndrome 2	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 211974021.	NM_001032283.3(TMPO):c.565+1590G>A GRCh37: Chr12:98927206 GRCh38: Chr12:98533428	TMPO	G391S	Loeys-Dietz syndrome 2	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 211896622.	NM_001032283.3(TMPO):c.429G>A (p.Glu143=) GRCh37: Chr12:98925480 GRCh38: Chr12:98531702	TMPO		Loeys-Dietz syndrome 2	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 210077523.	NM_001032283.3(TMPO):c.272T>C (p.Val91Ala) GRCh37: Chr12:98909917 GRCh38: Chr12:98516139	TMPO-AS1, TMPO	V91A	Loeys-Dietz syndrome 2	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209575724.	NM_001032283.3(TMPO):c.565+2222A>C GRCh37: Chr12:98927838 GRCh38: Chr12:98534060	TMPO		Loeys-Dietz syndrome 2	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 208815625.	NM_001032283.3(TMPO):c.565+1637A>G GRCh37: Chr12:98927253 GRCh38: Chr12:98533475	TMPO		Loeys-Dietz syndrome 2	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 208294626.	NM_001032283.3(TMPO):c.565+1932G>A GRCh37: Chr12:98927548 GRCh38: Chr12:98533770	TMPO	E505K	Loeys-Dietz syndrome 2	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 206898827.	NM_001032283.3(TMPO):c.565+2085G>A GRCh37: Chr12:98927701 GRCh38: Chr12:98533923	TMPO	A556T	Loeys-Dietz syndrome 2	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 206518528.	NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp) GRCh37: Chr12:98909855 GRCh38: Chr12:98516077	TMPO-AS1, TMPO	E70D	Loeys-Dietz syndrome 2	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 206198029.	NM_001032283.3(TMPO):c.565+2357C>T GRCh37: Chr12:98927973 GRCh38: Chr12:98534195	TMPO		Loeys-Dietz syndrome 2	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 205249430.	NM_001032283.3(TMPO):c.391C>T (p.Pro131Ser) GRCh37: Chr12:98921775 GRCh38: Chr12:98527997	TMPO	P131S	Loeys-Dietz syndrome 2	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 204635031.	NM_001032283.3(TMPO):c.287C>T (p.Thr96Ile) GRCh37: Chr12:98921671 GRCh38: Chr12:98527893	TMPO	T96I	Loeys-Dietz syndrome 2	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 204380532.	NM_001032283.3(TMPO):c.565+1808T>C GRCh37: Chr12:98927424 GRCh38: Chr12:98533646	TMPO		Loeys-Dietz syndrome 2	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 204325833.	NM_001032283.3(TMPO):c.565+2169A>G GRCh37: Chr12:98927785 GRCh38: Chr12:98534007	TMPO	T584A	Loeys-Dietz syndrome 2	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 204123434.	NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile) GRCh37: Chr12:98909815 GRCh38: Chr12:98516037	TMPO-AS1, TMPO	T57I	Loeys-Dietz syndrome 2	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 204038835.	NM_001032283.3(TMPO):c.565+1935T>C GRCh37: Chr12:98927551 GRCh38: Chr12:98533773	TMPO	W506R	Loeys-Dietz syndrome 2	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 203183436.	NM_001032283.3(TMPO):c.478_480del (p.Thr160del) GRCh37: Chr12:98925527-98925529 GRCh38: Chr12:98531749-98531751	TMPO	T160del	Loeys-Dietz syndrome 2	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 203082937.	NM_001032283.3(TMPO):c.528A>G (p.Gly176=) GRCh37: Chr12:98925579 GRCh38: Chr12:98531801	TMPO		Loeys-Dietz syndrome 2	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 201645438.	NM_001032283.3(TMPO):c.565+1154T>C GRCh37: Chr12:98926770 GRCh38: Chr12:98532992	TMPO		Loeys-Dietz syndrome 2	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201448339.	NM_001032283.3(TMPO):c.324T>A (p.Asp108Glu) GRCh37: Chr12:98921708 GRCh38: Chr12:98527930	TMPO	D108E	Loeys-Dietz syndrome 2	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 201045740.	NM_001032283.3(TMPO):c.565+1814C>G GRCh37: Chr12:98927430 GRCh38: Chr12:98533652	TMPO		Loeys-Dietz syndrome 2	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 200965541.	NM_001032283.3(TMPO):c.565+2460G>A GRCh37: Chr12:98928076 GRCh38: Chr12:98534298	TMPO	G681R	Loeys-Dietz syndrome 2	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 199625742.	NM_001032283.3(TMPO):c.280-11T>G GRCh37: Chr12:98921653 GRCh38: Chr12:98527875	TMPO		Loeys-Dietz syndrome 2	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 199394743.	NM_001032283.3(TMPO):c.460A>C (p.Thr154Pro) GRCh37: Chr12:98925511 GRCh38: Chr12:98531733	TMPO	T154P	Loeys-Dietz syndrome 2	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 198985644.	NM_001032283.3(TMPO):c.565+1508_565+1509del GRCh37: Chr12:98927124-98927125 GRCh38: Chr12:98533346-98533347	TMPO	S365fs	Loeys-Dietz syndrome 2	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 198900245.	NM_001032283.3(TMPO):c.565+1790G>A GRCh37: Chr12:98927406 GRCh38: Chr12:98533628	TMPO	M457I	Loeys-Dietz syndrome 2	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 198359246.	NM_001032283.3(TMPO):c.565+1983del GRCh37: Chr12:98927599 GRCh38: Chr12:98533821	TMPO	V522fs	Loeys-Dietz syndrome 2	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 198303547.	NM_001032283.3(TMPO):c.565+1179G>T GRCh37: Chr12:98926795 GRCh38: Chr12:98533017	TMPO	E254*	Loeys-Dietz syndrome 2	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 197664848.	NM_001032283.3(TMPO):c.565+1048G>C GRCh37: Chr12:98926664 GRCh38: Chr12:98532886	TMPO	G210A	Loeys-Dietz syndrome 2	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 196896749.	NM_001032283.3(TMPO):c.565+2058G>T GRCh37: Chr12:98927674 GRCh38: Chr12:98533896	TMPO	A547S	Loeys-Dietz syndrome 2	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 196457450.	NM_001032283.3(TMPO):c.565+2367C>G GRCh37: Chr12:98927983 GRCh38: Chr12:98534205	TMPO	R650G	Loeys-Dietz syndrome 2	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 194606551.	NM_001032283.3(TMPO):c.170C>A (p.Thr57Asn) GRCh37: Chr12:98909815 GRCh38: Chr12:98516037	TMPO, TMPO-AS1	T57N	Loeys-Dietz syndrome 2	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 194219452.	NM_001032283.3(TMPO):c.565+2271C>T GRCh37: Chr12:98927887 GRCh38: Chr12:98534109	TMPO		Loeys-Dietz syndrome 2	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 193548353.	NM_001032283.3(TMPO):c.63C>A (p.Val21=) GRCh37: Chr12:98909708 GRCh38: Chr12:98515930	TMPO, TMPO-AS1		Loeys-Dietz syndrome 2	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 193161654.	NM_001032283.3(TMPO):c.565+2315A>G GRCh37: Chr12:98927931 GRCh38: Chr12:98534153	TMPO		Loeys-Dietz syndrome 2	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 192761255.	NM_001032283.3(TMPO):c.565+1611A>C GRCh37: Chr12:98927227 GRCh38: Chr12:98533449	TMPO	N398H	Loeys-Dietz syndrome 2	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 192043756.	NM_001032283.3(TMPO):c.114C>A (p.Val38=) GRCh37: Chr12:98909759 GRCh38: Chr12:98515981	TMPO, TMPO-AS1		Loeys-Dietz syndrome 2	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 179946257.	NM_001032283.3(TMPO):c.306C>T (p.Pro102=) GRCh37: Chr12:98921690 GRCh38: Chr12:98527912	TMPO		Loeys-Dietz syndrome 2, Inborn genetic diseases	Likely benign (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179553758.	NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser) GRCh37: Chr12:98909919 GRCh38: Chr12:98516141	TMPO, TMPO-AS1	G92S	Inborn genetic diseases, Loeys-Dietz syndrome 2	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179026659.	NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe) GRCh37: Chr12:98909881 GRCh38: Chr12:98516103	TMPO-AS1, TMPO	S79F	Loeys-Dietz syndrome 2, Inborn genetic diseases	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178190560.	NM_001032283.3(TMPO):c.565+2300T>C GRCh37: Chr12:98927916 GRCh38: Chr12:98534138	TMPO		Loeys-Dietz syndrome 2, Inborn genetic diseases	Likely benign (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178098061.	NM_001032283.3(TMPO):c.565+2251C>T GRCh37: Chr12:98927867 GRCh38: Chr12:98534089	TMPO	T611I	Inborn genetic diseases, Loeys-Dietz syndrome 2	Uncertain significance (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178020162.	NM_001032283.3(TMPO):c.565+2210T>C GRCh37: Chr12:98927826 GRCh38: Chr12:98534048	TMPO		Inborn genetic diseases, Loeys-Dietz syndrome 2	Likely benign (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177957163.	NM_001032283.3(TMPO):c.565+2179C>T GRCh37: Chr12:98927795 GRCh38: Chr12:98534017	TMPO	A587V	Loeys-Dietz syndrome 2, Inborn genetic diseases	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177940264.	NM_001032283.3(TMPO):c.565+2170C>T GRCh37: Chr12:98927786 GRCh38: Chr12:98534008	TMPO	T584I	Loeys-Dietz syndrome 2, Inborn genetic diseases	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177836465.	NM_001032283.3(TMPO):c.565+1474C>T GRCh37: Chr12:98927090 GRCh38: Chr12:98533312	TMPO	P352L	Loeys-Dietz syndrome 2, Inborn genetic diseases	Uncertain significance (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177637566.	NM_001032283.3(TMPO):c.565+2029A>G GRCh37: Chr12:98927645 GRCh38: Chr12:98533867	TMPO	D537G	Loeys-Dietz syndrome 2, Inborn genetic diseases	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177477667.	NM_001032283.3(TMPO):c.565+1958G>A GRCh37: Chr12:98927574 GRCh38: Chr12:98533796	TMPO		Loeys-Dietz syndrome 2, Inborn genetic diseases	Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177086168.	NM_001032283.3(TMPO):c.565+1781C>T GRCh37: Chr12:98927397 GRCh38: Chr12:98533619	TMPO		Loeys-Dietz syndrome 2, Inborn genetic diseases	Likely benign (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176599369.	NM_001032283.3(TMPO):c.565+1334C>T GRCh37: Chr12:98926950 GRCh38: Chr12:98533172	TMPO		Loeys-Dietz syndrome 2, Inborn genetic diseases	Likely benign (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174315770.	NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile) GRCh37: Chr12:98925530 GRCh38: Chr12:98531752	TMPO	T160I	Loeys-Dietz syndrome 2, Inborn genetic diseases	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172159671.	NM_001032283.3(TMPO):c.565+2340C>T GRCh37: Chr12:98927956 GRCh38: Chr12:98534178	TMPO	H641Y	Loeys-Dietz syndrome 2	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 171668872.	NM_001032283.3(TMPO):c.493A>G (p.Ile165Val) GRCh37: Chr12:98925544 GRCh38: Chr12:98531766	TMPO	I165V	Loeys-Dietz syndrome 2	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 169949073.	NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro) GRCh37: Chr3:30715673 GRCh38: Chr3:30674181	TGFBR2	Q444P, Q469P, Q324P, Q349P, Q445P, Q480P, Q409P, Q453P, Q505P	Loeys-Dietz syndrome 2	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 169650774.	NM_003242.6(TGFBR2):c.95-3679C>A GRCh37: Chr3:30682560 GRCh38: Chr3:30641068	TGFBR2		Loeys-Dietz syndrome 2	Uncertain significance (Jul 23, 2021)	criteria provided, single submitter
Select item 167989575.	NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg) GRCh37: Chr3:30713852 GRCh38: Chr3:30672360	TGFBR2	C393R, C418R, C273R, C429R, C454R, C358R, C394R, C298R, C402R	Loeys-Dietz syndrome 2	Likely pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 167965176.	NM_003242.6(TGFBR2):c.1386T>G (p.Asn462Lys) GRCh37: Chr3:30715728 GRCh38: Chr3:30674236	TGFBR2	N462K, N487K, N463K, N342K, N427K, N498K, N471K, N367K, N523K	Loeys-Dietz syndrome 2	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 167758777.	NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly) GRCh37: Chr3:30713243 GRCh38: Chr3:30671751	TGFBR2	R190G, R215G, R155G, R199G, R191G, R226G, R251G, R95G, R70G	Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus, Loeys-Dietz syndrome 2, not provided	Uncertain significance (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 165931678.	NM_001032283.3(TMPO):c.565+1559T>C GRCh37: Chr12:98927175 GRCh38: Chr12:98533397	TMPO		Inborn genetic diseases, Loeys-Dietz syndrome 2	Likely benign (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 163943979.	NM_001032283.3(TMPO):c.441G>A (p.Leu147=) GRCh37: Chr12:98925492 GRCh38: Chr12:98531714	TMPO		Loeys-Dietz syndrome 2	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 163241480.	NM_001032283.3(TMPO):c.565+1319C>T GRCh37: Chr12:98926935 GRCh38: Chr12:98533157	TMPO		Loeys-Dietz syndrome 2	Likely benign (Dec 18, 2020)	criteria provided, single submitter
Select item 162680881.	NM_001032283.3(TMPO):c.565+2273G>A GRCh37: Chr12:98927889 GRCh38: Chr12:98534111	TMPO		Loeys-Dietz syndrome 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 162142982.	NM_001032283.3(TMPO):c.48G>A (p.Leu16=) GRCh37: Chr12:98909693 GRCh38: Chr12:98515915	TMPO, TMPO-AS1		Loeys-Dietz syndrome 2	Likely benign (Dec 15, 2020)	criteria provided, single submitter
Select item 160269483.	NM_001032283.3(TMPO):c.279+14dup GRCh37: Chr12:98909934-98909935 GRCh38: Chr12:98516156-98516157	TMPO-AS1, TMPO		Loeys-Dietz syndrome 2	Likely benign (May 24, 2021)	criteria provided, single submitter
Select item 159631384.	NM_001032283.3(TMPO):c.565+2261G>T GRCh37: Chr12:98927877 GRCh38: Chr12:98534099	TMPO		Loeys-Dietz syndrome 2, Inborn genetic diseases	Likely benign (Aug 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 159524685.	NM_001032283.3(TMPO):c.279+16C>T GRCh37: Chr12:98909940 GRCh38: Chr12:98516162	TMPO-AS1, TMPO		Loeys-Dietz syndrome 2	Likely benign (Mar 9, 2021)	criteria provided, single submitter
Select item 159354786.	NM_001032283.3(TMPO):c.51G>A (p.Lys17=) GRCh37: Chr12:98909696 GRCh38: Chr12:98515918	TMPO, TMPO-AS1		Loeys-Dietz syndrome 2	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 159249587.	NM_001032283.3(TMPO):c.267A>T (p.Ala89=) GRCh37: Chr12:98909912 GRCh38: Chr12:98516134	TMPO, TMPO-AS1		Loeys-Dietz syndrome 2, Inborn genetic diseases	Likely benign (Mar 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 157958788.	NM_001032283.3(TMPO):c.565+1709T>C GRCh37: Chr12:98927325 GRCh38: Chr12:98533547	TMPO		Loeys-Dietz syndrome 2	Likely benign (Jul 26, 2021)	criteria provided, single submitter
Select item 157301789.	NM_001032283.3(TMPO):c.565+1106C>A GRCh37: Chr12:98926722 GRCh38: Chr12:98532944	TMPO		Loeys-Dietz syndrome 2	Likely benign (Feb 22, 2021)	criteria provided, single submitter
Select item 156256890.	NM_001032283.3(TMPO):c.565+2504G>A GRCh37: Chr12:98928120 GRCh38: Chr12:98534342	TMPO		Loeys-Dietz syndrome 2	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 156063391.	NM_001032283.3(TMPO):c.111C>T (p.Tyr37=) GRCh37: Chr12:98909756 GRCh38: Chr12:98515978	TMPO, TMPO-AS1		Loeys-Dietz syndrome 2, Inborn genetic diseases	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155770592.	NM_001032283.3(TMPO):c.565+2081A>G GRCh37: Chr12:98927697 GRCh38: Chr12:98533919	TMPO		Loeys-Dietz syndrome 2	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 154983793.	NM_001032283.3(TMPO):c.270C>G (p.Ala90=) GRCh37: Chr12:98909915 GRCh38: Chr12:98516137	TMPO-AS1, TMPO		Loeys-Dietz syndrome 2	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 154389794.	NM_001032283.3(TMPO):c.565+1382C>T GRCh37: Chr12:98926998 GRCh38: Chr12:98533220	TMPO		Loeys-Dietz syndrome 2	Likely benign (Aug 14, 2021)	criteria provided, single submitter
Select item 153961695.	NM_001032283.3(TMPO):c.565+2261G>A GRCh37: Chr12:98927877 GRCh38: Chr12:98534099	TMPO		Loeys-Dietz syndrome 2, Inborn genetic diseases	Likely benign (Apr 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153572696.	NM_001032283.3(TMPO):c.66C>T (p.Ala22=) GRCh37: Chr12:98909711 GRCh38: Chr12:98515933	TMPO, TMPO-AS1		Loeys-Dietz syndrome 2	Likely benign (Nov 26, 2021)	criteria provided, single submitter
Select item 152498997.	NM_001032283.3(TMPO):c.565+2002C>T GRCh37: Chr12:98927618 GRCh38: Chr12:98533840	TMPO	T528I	Loeys-Dietz syndrome 2	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 151885498.	NM_001032283.3(TMPO):c.478A>C (p.Thr160Pro) GRCh37: Chr12:98925529 GRCh38: Chr12:98531751	TMPO	T160P	Loeys-Dietz syndrome 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 151624999.	NM_001032283.3(TMPO):c.565+2281C>T GRCh37: Chr12:98927897 GRCh38: Chr12:98534119	TMPO	T621I	Loeys-Dietz syndrome 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 1512934100.	NM_001032283.3(TMPO):c.565+2472A>C GRCh37: Chr12:98928088 GRCh38: Chr12:98534310	TMPO	K685Q	Loeys-Dietz syndrome 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter

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