ClinVar for MedGen (Select 766676) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2630159	NM_003238.6(TGFB2):c.833C>T (p.Thr278Ile)	TGFB2 (T278I +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 4 +1 more	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 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 2561036	NM_003238.6(TGFB2):c.1162C>T (p.Leu388=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2441864	NM_003238.6(TGFB2):c.999A>T (p.Lys333Asn)	TGFB2 (K333N +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2424659	NC_000001.10:g.(?_218607404)_(218607810_?)dup	TGFB2	Duplication	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2418755	NM_003238.6(TGFB2):c.701C>G (p.Ser234Cys)	TGFB2 (S234C +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2201832	NM_003238.6(TGFB2):c.234C>T (p.Leu78=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2200349	NM_003238.6(TGFB2):c.933-14_933-13insG	TGFB2	Insertion (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2198298	NM_003238.6(TGFB2):c.265T>C (p.Cys89Arg)	TGFB2 (C89R)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2197295	NM_003238.6(TGFB2):c.919G>C (p.Ala307Pro)	TGFB2 (A335P +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2194309	NM_003238.6(TGFB2):c.244G>A (p.Ala82Thr)	TGFB2 (A82T)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2191625	NM_003238.6(TGFB2):c.173C>T (p.Pro58Leu)	TGFB2 (P58L)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GUncertain significance
Select item 2189194	NM_003238.6(TGFB2):c.1086+13C>T	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2186834	NM_003238.6(TGFB2):c.159C>T (p.Pro53=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2180279	NM_003238.6(TGFB2):c.463C>A (p.Gln155Lys)	TGFB2 (Q183K +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2177553	NM_003238.6(TGFB2):c.79C>A (p.Leu27Ile)	TGFB2 (L27I)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2176612	NM_003238.6(TGFB2):c.183G>A (p.Glu61=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2165076	NM_003238.6(TGFB2):c.755-5dup	TGFB2	Duplication (intron variant)	Loeys-Dietz syndrome 4	GBenign
Select item 2161463	NM_003238.6(TGFB2):c.541A>G (p.Thr181Ala)	TGFB2 (T181A +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2151918	NM_003238.6(TGFB2):c.589G>T (p.Glu197Ter)	TGFB2 (E197* +1 more)	Single nucleotide variant (nonsense +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2148696	NM_003238.6(TGFB2):c.782G>A (p.Ser261Asn)	TGFB2 (S261N +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2148302	NM_003238.6(TGFB2):c.643+9C>A	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2144988	NM_003238.6(TGFB2):c.809C>G (p.Thr270Ser)	TGFB2 (T298S +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2139331	NM_003238.6(TGFB2):c.933-18T>C	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2131627	NM_003238.6(TGFB2):c.844C>A (p.Leu282Met)	TGFB2 (L310M +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2113842	NM_003238.6(TGFB2):c.152C>T (p.Thr51Ile)	TGFB2 (T51I)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2100824	NM_003238.6(TGFB2):c.792G>T (p.Gln264His)	TGFB2 (Q292H +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2098434	NM_003238.6(TGFB2):c.787G>T (p.Asp263Tyr)	TGFB2 (D263Y +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2094498	NM_003238.6(TGFB2):c.1118A>G (p.Glu373Gly)	TGFB2 (E373G +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2093758	NM_003238.6(TGFB2):c.1204C>T (p.Gln402Ter)	TGFB2 (Q402* +1 more)	Single nucleotide variant (nonsense +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2092629	NM_003238.6(TGFB2):c.19A>G (p.Ser7Gly)	TGFB2 (S7G)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2086272	NM_003238.6(TGFB2):c.663A>G (p.Lys221=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2056261	NM_003238.6(TGFB2):c.174T>G (p.Pro58=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GLikely benign
Select item 2054889	NM_003238.6(TGFB2):c.197_199dup (p.Glu66_Val67insGlu)	TGFB2	Duplication (inframe_insertion +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2050897	NM_003238.6(TGFB2):c.755-18C>T	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GLikely benign

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