ClinVar for Gene (Select 7042) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247814	NC_000001.10:g.(?_218520044)_(218520409_?)dup	TGFB2	Duplication	Loeys-Dietz syndrome 4	GUncertain significance
Select item 3247813	NC_000001.10:g.(?_218607404)_(218614704_?)del	TGFB2	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 3247812	NC_000001.10:g.(?_218578491)_(218614704_?)del	TGFB2	Deletion	Loeys-Dietz syndrome 4	GLikely pathogenic
Select item 3247811	NC_000001.10:g.(?_218520044)_(218520409_?)del	TGFB2	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 3242079	NM_003238.6(TGFB2):c.368A>G (p.Tyr123Cys)	TGFB2 (Y123C +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 3223147	NM_003238.6(TGFB2):c.935A>G (p.Asn312Ser)	TGFB2 (N312S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223146	NM_003238.6(TGFB2):c.834C>T (p.Thr278=)	TGFB2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223145	NM_003238.6(TGFB2):c.624T>C (p.His208=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223144	NM_003238.6(TGFB2):c.342C>T (p.Ser114=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223143	NM_003238.6(TGFB2):c.22G>T (p.Ala8Ser)	TGFB2 (A8S)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223142	NM_003238.6(TGFB2):c.164A>C (p.Glu55Ala)	TGFB2 (E55A)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223141	NM_003238.6(TGFB2):c.141G>A (p.Lys47=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3223140	NM_003238.6(TGFB2):c.121C>T (p.Arg41Cys)	TGFB2 (R41C)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3223139	NM_003238.6(TGFB2):c.1152T>C (p.Asp384=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3176650	NM_003238.6(TGFB2):c.22G>A (p.Ala8Thr)	TGFB2 (A8T)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3075818	NM_003238.6(TGFB2):c.995G>A (p.Trp332Ter)	TGFB2 (W332* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3062031	NM_003238.6(TGFB2):c.755G>T (p.Gly252Val)	TGFB2 (G252V +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 3058800	NM_003238.6(TGFB2):c.108G>A (p.Arg36=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	TGFB2-related disorder	GLikely benign
Select item 3052766	NM_003238.6(TGFB2):c.816A>C (p.Lys272Asn)	TGFB2 (K272N +1 more)	Single nucleotide variant (missense variant)	TGFB2-related disorder	GUncertain significance
Select item 3026869	NM_003238.6(TGFB2):c.635del (p.His212fs)	TGFB2 (H212fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3018043	NM_003238.6(TGFB2):c.1086+15T>A	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 3018013	NM_003238.6(TGFB2):c.111C>G (p.Ile37Met)	TGFB2 (I37M)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 3017704	NM_003238.6(TGFB2):c.598T>G (p.Ser200Ala)	TGFB2 (S200A +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 3017475	NM_003238.6(TGFB2):c.795A>G (p.Lys265=)	TGFB2	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 3010826	NM_003238.6(TGFB2):c.172C>T (p.Pro58Ser)	TGFB2 (P58S)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 3003998	NM_003238.6(TGFB2):c.963A>G (p.Pro321=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 3002160	NM_003238.6(TGFB2):c.1185C>T (p.Gly395=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 3001380	NM_003238.6(TGFB2):c.582A>G (p.Ala194=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2986501	NM_003238.6(TGFB2):c.542C>T (p.Thr181Ile)	TGFB2 (T209I +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2975770	NM_003238.6(TGFB2):c.38A>G (p.His13Arg)	TGFB2 (H13R)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2962677	NM_003238.6(TGFB2):c.1105A>G (p.Thr369Ala)	TGFB2 (T397A +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2956632	NM_003238.6(TGFB2):c.560G>A (p.Ser187Asn)	TGFB2 (S215N +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2920900	NM_003238.6(TGFB2):c.643+11_643+12del	TGFB2	Deletion (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2920683	NM_003238.6(TGFB2):c.9del (p.Cys4fs)	TGFB2 (C4fs)	Deletion (frameshift variant +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2919772	NM_003238.6(TGFB2):c.186A>G (p.Glu62=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2917356	NM_003238.6(TGFB2):c.459T>C (p.Arg153=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2917202	NM_003238.6(TGFB2):c.638A>G (p.His213Arg)	TGFB2 (H241R +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2915163	NM_003238.6(TGFB2):c.346+12T>C	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2913342	NM_003238.6(TGFB2):c.644-17G>C	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2910134	NM_003238.6(TGFB2):c.1150G>C (p.Asp384His)	TGFB2 (D412H +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2902750	NM_003238.6(TGFB2):c.252G>C (p.Arg84=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2899783	NM_003238.6(TGFB2):c.959del (p.Arg320fs)	TGFB2 (R320fs +1 more)	Deletion (frameshift variant +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2897941	NM_003238.6(TGFB2):c.888C>T (p.Thr296=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2891266	NM_003238.6(TGFB2):c.990A>G (p.Leu330=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2884421	NM_003238.6(TGFB2):c.111C>T (p.Ile37=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2872824	NM_003238.6(TGFB2):c.638A>T (p.His213Leu)	TGFB2 (H213L +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2869290	NM_003238.6(TGFB2):c.399C>T (p.Asp133=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2861229	NM_003238.6(TGFB2):c.327G>C (p.Pro109=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2859631	NM_003238.6(TGFB2):c.755-17A>C	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2856422	NM_003238.6(TGFB2):c.774A>C (p.Thr258=)	TGFB2	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2849282	NM_003238.6(TGFB2):c.852G>C (p.Met284Ile)	TGFB2 (M284I +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2847620	NM_003238.6(TGFB2):c.1237T>C (p.Cys413Arg)	TGFB2 (C441R +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2846615	NM_003238.6(TGFB2):c.301A>T (p.Lys101Ter)	TGFB2 (K101*)	Single nucleotide variant (nonsense +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2845458	NM_003238.6(TGFB2):c.291_293dup (p.Tyr98Ter)	TGFB2 (Y98*)	Duplication (nonsense +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2836703	NM_003238.6(TGFB2):c.635A>G (p.His212Arg)	TGFB2 (H212R +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2832186	NM_003238.6(TGFB2):c.1140C>A (p.Cys380Ter)	TGFB2 (C408* +1 more)	Single nucleotide variant (nonsense +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2826161	NM_003238.6(TGFB2):c.1244A>T (p.Ter415Leu)	TGFB2	Single nucleotide variant (stop lost +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2824282	NM_003238.6(TGFB2):c.874G>A (p.Glu292Lys)	TGFB2 (E320K +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2819971	NM_003238.6(TGFB2):c.218G>C (p.Ser73Thr)	TGFB2 (S73T)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2815275	NM_003238.6(TGFB2):c.668G>A (p.Ser223Asn)	TGFB2 (S223N +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2812217	NM_003238.6(TGFB2):c.921_932+4del	TGFB2	Deletion (splice donor variant)	Loeys-Dietz syndrome 4	GLikely pathogenic
Select item 2804890	NM_003238.6(TGFB2):c.1041T>C (p.Ala347=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2767503	NM_003238.6(TGFB2):c.299C>A (p.Ala100Asp)	TGFB2 (A100D)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2765505	NM_003238.6(TGFB2):c.186del (p.Val63fs)	TGFB2 (V63fs)	Deletion (frameshift variant +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2756608	NM_003238.6(TGFB2):c.444G>T (p.Glu148Asp)	TGFB2 (E148D +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2754528	NM_003238.6(TGFB2):c.1069_1072del (p.Asp357fs)	TGFB2 (D357fs +1 more)	Deletion (frameshift variant +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2754425	NM_003238.6(TGFB2):c.457del (p.Arg153fs)	TGFB2 (R153fs +1 more)	Deletion (frameshift variant +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2752143	NM_003238.6(TGFB2):c.89del (p.Asp30fs)	TGFB2 (D30fs)	Deletion (frameshift variant +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2746332	NM_003238.6(TGFB2):c.81C>A (p.Leu27=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2740857	NM_003238.6(TGFB2):c.743C>T (p.Ala248Val)	TGFB2 (A276V +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2739662	NM_003238.6(TGFB2):c.486T>C (p.Pro162=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2739286	NM_003238.6(TGFB2):c.878C>T (p.Ser293Leu)	TGFB2 (S321L +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2736484	NM_003238.6(TGFB2):c.978C>A (p.Phe326Leu)	TGFB2 (F354L +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2730900	NM_003238.6(TGFB2):c.510+12TTG[16]	TGFB2	Microsatellite (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2730565	NM_003238.6(TGFB2):c.346+12T>G	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2730244	NM_003238.6(TGFB2):c.678T>A (p.Cys226Ter)	TGFB2 (C254* +1 more)	Single nucleotide variant (nonsense +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2729482	NM_003238.6(TGFB2):c.644-14_644-13del	TGFB2	Deletion (intron variant)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2708613	NM_003238.6(TGFB2):c.511-18G>A	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2707019	NM_003238.6(TGFB2):c.1021T>C (p.Tyr341His)	TGFB2 (Y369H +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2699960	NM_003238.6(TGFB2):c.906T>G (p.Arg302=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2699581	NM_003238.6(TGFB2):c.933-2A>C	TGFB2	Single nucleotide variant (splice acceptor variant)	Loeys-Dietz syndrome 4	GLikely pathogenic
Select item 2696012	NM_003238.6(TGFB2):c.1032C>T (p.Asn344=)	TGFB2	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2685838	GRCh37/hg19 1q41(chr1:218254112-218542059)x3	RRP15, TGFB2	Copy number gain	not provided	GUncertain significance
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
Select item 2682179	NM_003238.6(TGFB2):c.754+4A>G	TGFB2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2664925	NM_003238.6(TGFB2):c.959G>A (p.Arg320His)	TGFB2 (R320H +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2637753	NM_003238.6(TGFB2):c.355C>T (p.Pro119Ser)	TGFB2 (P119S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2631372	NM_003238.6(TGFB2):c.758T>C (p.Ile253Thr)	TGFB2 (I253T +1 more)	Single nucleotide variant (missense variant)	TGFB2-related disorder	GUncertain significance
Select item 2630159	NM_003238.6(TGFB2):c.833C>T (p.Thr278Ile)	TGFB2 (T278I +1 more)	Single nucleotide variant (missense variant)	TGFB2-related disorder +2 more	GUncertain significance
Select item 2586621	NM_003238.6(TGFB2):c.53C>T (p.Ala18Val)	TGFB2 (A18V)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2586620	NM_003238.6(TGFB2):c.147G>A (p.Lys49=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2586619	NM_003238.6(TGFB2):c.440_442del (p.Ala147del)	TGFB2 (A175del +1 more)	Deletion (inframe_deletion +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2581605	NM_003238.6(TGFB2):c.59G>C (p.Ser20Thr)	TGFB2 (S20T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581033	NM_003238.6(TGFB2):c.1186A>G (p.Lys396Glu)	TGFB2 (K396E +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2578287	NM_003238.6(TGFB2):c.482T>G (p.Val161Gly)	TGFB2 (V161G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2577387	NM_003238.6(TGFB2):c.417G>A (p.Lys139=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GLikely benign
Select item 2577386	NM_003238.6(TGFB2):c.387T>G (p.Ile129Met)	TGFB2 (I129M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2576784	NM_003238.6(TGFB2):c.643+1G>A	TGFB2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2566496	NM_003238.6(TGFB2):c.331T>G (p.Phe111Val)	TGFB2 (F111V)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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