ClinVar for MedGen (Select 382398) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362405	NM_003242.6(TGFBR2):c.1595A>G (p.Gln532Arg)	TGFBR2 (Q242R +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3244324	NC_000012.11:g.(?_98909646)_(98928120_?)dup	TMPO	Duplication	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3238821	NM_003242.6(TGFBR2):c.1603_1609delinsA (p.Ala535_Arg537delinsSer)	TGFBR2	Indel (inframe_indel)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 3235255	NM_003242.6(TGFBR2):c.1592C>A (p.Ala531Asp)	TGFBR2 (A241D +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GLikely pathogenic
Select item 3075671	NM_003242.6(TGFBR2):c.1241_1254+1del	TGFBR2	Deletion (splice donor variant +1 more)	Loeys-Dietz syndrome 2	GLikely pathogenic
Select item 3075497	NM_003242.6(TGFBR2):c.-1C>T	TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3075490	NM_003242.6(TGFBR2):c.1092T>A (p.Asp364Glu)	TGFBR2 (D244E +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3075369	NM_003242.6(TGFBR2):c.227T>C (p.Ile76Thr)	TGFBR2 (I101T +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3075302	NM_003242.6(TGFBR2):c.619C>G (p.Arg207Gly)	TGFBR2 (R112G +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3075181	NM_003242.6(TGFBR2):c.310C>A (p.Pro104Thr)	TGFBR2 (P104T +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance/Uncertain risk allele
Select item 3074970	NM_003242.6(TGFBR2):c.256G>T (p.Ala86Ser)	TGFBR2 (A111S +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3074754	NM_003242.6(TGFBR2):c.1566C>T (p.Asp522=)	TGFBR2	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3074686	NM_003242.6(TGFBR2):c.627C>A (p.Leu209=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3074615	NM_003242.6(TGFBR2):c.1397-12C>A	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3074609	NM_003242.6(TGFBR2):c.226A>C (p.Ile76Leu)	TGFBR2 (I101L +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3074315	NM_003242.6(TGFBR2):c.387T>G (p.Pro129=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3074314	NM_003242.6(TGFBR2):c.281A>C (p.Asn94Thr)	TGFBR2 (N103T +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3074118	NM_003242.6(TGFBR2):c.1357G>T (p.Val453Leu)	TGFBR2 (V333L +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3073994	NM_003242.6(TGFBR2):c.81C>G (p.His27Gln)	TGFBR2 (H27Q)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3073913	NM_003242.6(TGFBR2):c.1126G>T (p.Val376Leu)	TGFBR2 (V256L +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3073815	NM_003242.6(TGFBR2):c.1633G>A (p.Asp545Asn)	TGFBR2 (D255N +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3073798	NM_003242.6(TGFBR2):c.432T>A (p.Asn144Lys)	TGFBR2 (N109K +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3073797	NM_003242.6(TGFBR2):c.443T>C (p.Ile148Thr)	TGFBR2 (I113T +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3073791	NM_003242.6(TGFBR2):c.972C>G (p.Ile324Met)	TGFBR2 (I360M +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3073579	NM_003242.6(TGFBR2):c.58A>T (p.Ile20Phe)	TGFBR2 (I20F)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3073548	NM_003242.6(TGFBR2):c.1197G>A (p.Gly399=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3073365	NM_003242.6(TGFBR2):c.834C>T (p.Ile278=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3073325	NM_003242.6(TGFBR2):c.168G>A (p.Val56=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3073322	NM_003242.6(TGFBR2):c.1460T>C (p.Met487Thr)	TGFBR2 (M197T +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3072899	NM_003242.6(TGFBR2):c.427T>C (p.Cys143Arg)	TGFBR2 (C108R +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3072879	NM_003242.6(TGFBR2):c.1021G>C (p.Val341Leu)	TGFBR2 (V221L +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3072730	NM_003242.6(TGFBR2):c.302G>A (p.Cys101Tyr)	TGFBR2 (C101Y +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3072678	NM_003242.6(TGFBR2):c.8G>C (p.Arg3Pro)	TGFBR2 (R3P)	Single nucleotide variant (5 prime UTR variant +2 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3072632	NM_003242.6(TGFBR2):c.1370T>C (p.Met457Thr)	TGFBR2 (M337T +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3072562	NM_003242.6(TGFBR2):c.95-6C>T	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3072524	NM_003242.6(TGFBR2):c.1486G>A (p.Gly496Arg)	TGFBR2 (G206R +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3072270	NM_003242.6(TGFBR2):c.1699A>G (p.Lys567Glu)	TGFBR2 (K277E +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3072138	NM_003242.6(TGFBR2):c.1176C>G (p.Thr392=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3072116	NM_003242.6(TGFBR2):c.779A>G (p.Lys260Arg)	TGFBR2 (K140R +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3072068	NM_003242.6(TGFBR2):c.468C>T (p.Ser156=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3071846	NM_003242.6(TGFBR2):c.1182C>T (p.Cys394=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3071608	NM_003242.6(TGFBR2):c.-9G>A	TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3071439	NM_003242.6(TGFBR2):c.638G>A (p.Ser213Asn)	TGFBR2 (S118N +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3071348	NM_003242.6(TGFBR2):c.*3C>A	TGFBR2	Single nucleotide variant (3 prime UTR variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3071336	NM_003242.6(TGFBR2):c.628A>G (p.Met210Val)	TGFBR2 (M115V +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3071325	NM_003242.6(TGFBR2):c.1243A>G (p.Asn415Asp)	TGFBR2 (N295D +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3071319	NM_003242.6(TGFBR2):c.344A>T (p.Asp115Val)	TGFBR2 (D115V +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3071283	NM_003242.6(TGFBR2):c.1403A>T (p.Lys468Ile)	TGFBR2 (K178I +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3071229	NM_003242.6(TGFBR2):c.1265C>T (p.Ala422Val)	TGFBR2 (A302V +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3071052	NM_003242.6(TGFBR2):c.544G>A (p.Val182Ile)	TGFBR2 (V147I +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3071011	NM_003242.6(TGFBR2):c.1203C>T (p.Ser401=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3070872	NM_003242.6(TGFBR2):c.1097C>T (p.Thr366Ile)	TGFBR2 (T246I +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3070871	NM_003242.6(TGFBR2):c.531A>G (p.Gly177=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3070771	NM_003242.6(TGFBR2):c.35_55dup (p.Thr18_Arg19insLeuHisIleValLeuTrpThr)	TGFBR2	Duplication (inframe_insertion +2 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3070671	NM_003242.6(TGFBR2):c.1063G>T (p.Ala355Ser)	TGFBR2 (A235S +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3070567	NM_003242.6(TGFBR2):c.636C>T (p.Phe212=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3070527	NM_003242.6(TGFBR2):c.723G>C (p.Leu241=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3070372	NM_003242.6(TGFBR2):c.235A>G (p.Lys79Glu)	TGFBR2 (K104E +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3070364	NM_003242.6(TGFBR2):c.431A>G (p.Asn144Ser)	TGFBR2 (N109S +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3070109	NM_003242.6(TGFBR2):c.1299G>A (p.Arg433=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3069901	NM_003242.6(TGFBR2):c.1335C>G (p.Thr445=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3069879	NM_003242.6(TGFBR2):c.357A>G (p.Pro119=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3069845	NM_003242.6(TGFBR2):c.594T>A (p.Ser198Arg)	TGFBR2 (S103R +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3069839	NM_003242.6(TGFBR2):c.190C>A (p.Gln64Lys)	TGFBR2 (Q29K +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3069809	NM_003242.6(TGFBR2):c.530G>A (p.Gly177Glu)	TGFBR2 (G142E +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3069529	NM_003242.6(TGFBR2):c.33G>C (p.Pro11=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3014458	NM_001032283.3(TMPO):c.565+19T>C	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3013196	NM_001032283.3(TMPO):c.565+1817T>C	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3012214	NM_001032283.3(TMPO):c.273C>A (p.Val91=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3004111	NM_001032283.3(TMPO):c.565+2412A>T	TMPO (K665*)	Single nucleotide variant (nonsense +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3001809	NM_003242.6(TGFBR2):c.77C>T (p.Pro26Leu)	TGFBR2 (P26L)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2999707	NM_001032283.3(TMPO):c.565+2292G>A	TMPO (A625T)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2995143	NM_001032283.3(TMPO):c.565+9T>G	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2993032	NM_001032283.3(TMPO):c.565+2128G>A	TMPO (C570Y)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2974353	NM_001032283.3(TMPO):c.565+1613C>T	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2968150	NM_001032283.3(TMPO):c.565+2175_565+2176del	TMPO (T586fs)	Microsatellite (frameshift variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2962190	NM_003242.6(TGFBR2):c.61G>T (p.Ala21Ser)	TGFBR2 (A21S)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2959767	NM_001032283.3(TMPO):c.506C>G (p.Ala169Gly)	TMPO (A169G)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2958264	NM_001032283.3(TMPO):c.280-13A>G	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2920469	NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile)	LOC130008520, TMPO +1 more (T74I)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2920260	NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)	TGFBR2 (M33V +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 2914241	NM_001032283.3(TMPO):c.565+2261G>C	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2911360	NM_001032283.3(TMPO):c.186C>T (p.Pro62=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2907196	NM_001032283.3(TMPO):c.565+2170C>G	TMPO (T584S)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2906961	NM_001032283.3(TMPO):c.279+17G>A	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2905295	NM_001032283.3(TMPO):c.565+2101G>T	TMPO (C561F)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2904446	NM_001032283.3(TMPO):c.280-13A>T	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2904278	NM_001032283.3(TMPO):c.565+1587G>A	TMPO (V390I)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2896477	NM_001032283.3(TMPO):c.565+1372C>T	TMPO (T318I)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2888474	NM_003242.6(TGFBR2):c.877A>T (p.Ile293Phe)	TGFBR2 (I293F +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 2888430	NM_003242.6(TGFBR2):c.462C>T (p.Asn154=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 2882838	NM_001032283.3(TMPO):c.565+2104A>G	TMPO (N562S)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2872153	NM_003242.6(TGFBR2):c.147A>G (p.Gln49=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 2871712	NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys)	TMPO, TMPO-AS1 (N58K)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2868039	NM_001032283.3(TMPO):c.565+1062_565+1063delinsTT	TMPO (G215F)	Indel (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2868038	NM_001032283.3(TMPO):c.565+1018C>G	TMPO (T200S)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2866845	NM_001032283.3(TMPO):c.565+2397A>T	TMPO (I660F)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2864179	NM_001032283.3(TMPO):c.308G>C (p.Arg103Thr)	TMPO (R103T)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2856608	NM_001032283.3(TMPO):c.565+1220G>A	TMPO	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2853228	NM_001032283.3(TMPO):c.565+1128G>T	TMPO (E237*)	Single nucleotide variant (nonsense +1 more)	Loeys-Dietz syndrome 2	GUncertain significance

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