"Illumina Laboratory Services, Illumina"[submitter] AND "TGFB2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 295455	NM_003238.6(TGFB2):c.-1302A>G	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 295456	NM_003238.6(TGFB2):c.-1278AAGAGA[3]	TGFB2, TGFB2-AS1	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GUncertain significance
Select item 295457	NM_003238.6(TGFB2):c.-1271A>G	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 875513	NM_003238.6(TGFB2):c.-1249G>A	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 875514	NM_003238.6(TGFB2):c.-1237G>C	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 675714	NM_003238.6(TGFB2):c.-1230G>A	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GBenign/Likely benign
Select item 295458	NM_003238.6(TGFB2):c.-1153G>T	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295459	NM_003238.6(TGFB2):c.-1016C>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295460	NM_003238.6(TGFB2):c.-794T>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295461	NM_003238.6(TGFB2):c.-784A>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 875515	NM_003238.6(TGFB2):c.-758G>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295462	NM_003238.6(TGFB2):c.-746G>T	TGFB2	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295463	NM_003238.6(TGFB2):c.-714A>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295464	NM_003238.6(TGFB2):c.-699A>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295465	NM_003238.6(TGFB2):c.-683C>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295466	NM_003238.6(TGFB2):c.-682C>G	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295467	NM_003238.6(TGFB2):c.-679G>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295468	NM_003238.6(TGFB2):c.-677T>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 295469	NM_003238.6(TGFB2):c.-663C>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295470	NM_003238.6(TGFB2):c.-652GCACAC[3]	TGFB2	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GUncertain significance
Select item 295471	NM_003238.6(TGFB2):c.-645_-644insCCACGC	TGFB2	Insertion (5 prime UTR variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 295475	NM_003238.6(TGFB2):c.-644AC[15]	TGFB2	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 295474	NM_003238.6(TGFB2):c.-644AC[14]	TGFB2	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 295473	NM_003238.6(TGFB2):c.-644AC[13]	TGFB2	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 295472	NM_003238.6(TGFB2):c.-646G>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295476	NM_003238.6(TGFB2):c.-644AC[11]	TGFB2	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome	GLikely benign
Select item 295477	NM_003238.6(TGFB2):c.-644A>G	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295478	NM_003238.6(TGFB2):c.-620G>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 873635	NM_003238.6(TGFB2):c.-616G>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295479	NM_003238.6(TGFB2):c.-569T>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295480	NM_003238.6(TGFB2):c.-542C>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 873636	NM_003238.6(TGFB2):c.-540A>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 873637	NM_003238.6(TGFB2):c.-514T>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295481	NM_003238.6(TGFB2):c.-338T>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295482	NM_003238.6(TGFB2):c.-288A>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 295483	NM_003238.6(TGFB2):c.-113_-110dup	TGFB2	Duplication (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 874631	NM_003238.6(TGFB2):c.-101A>G	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 874632	NM_003238.6(TGFB2):c.-96C>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295484	NM_003238.6(TGFB2):c.-45del	TGFB2	Deletion (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 213833	NM_003238.6(TGFB2):c.-5A>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 295485	NM_003238.6(TGFB2):c.37C>A (p.His13Asn)	TGFB2 (H13N)	Single nucleotide variant (missense variant +1 more)	TGFB2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 295486	NM_003238.6(TGFB2):c.52G>A (p.Ala18Thr)	TGFB2 (A18T)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295487	NM_003238.6(TGFB2):c.54G>T (p.Ala18=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 213834	NM_003238.6(TGFB2):c.114G>A (p.Glu38=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 213835	NM_003238.6(TGFB2):c.272G>A (p.Arg91His)	TGFB2 (R91H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 380608	NM_003238.6(TGFB2):c.303G>A (p.Lys101=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 875569	NM_003238.6(TGFB2):c.347-10T>A	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 213840	NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)	TGFB2 (P119L +1 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 213836	NM_003238.6(TGFB2):c.357G>A (p.Pro119=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 875570	NM_003238.6(TGFB2):c.510+9C>T	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GConflicting classifications of pathogenicity
Select item 228320	NM_003238.6(TGFB2):c.510+12TTG[12]	TGFB2	Microsatellite (intron variant)	Loeys-Dietz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 295489	NM_003238.6(TGFB2):c.510+12TTG[8]	TGFB2	Microsatellite (intron variant)	Loeys-Dietz syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 295488	NM_003238.6(TGFB2):c.510+12TTG[9]	TGFB2	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 295490	NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys)	TGFB2 (E197K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 155837	NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)	TGFB2 (V207L +1 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 139416	NM_003238.6(TGFB2):c.643+7A>C	TGFB2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 295491	NM_003238.6(TGFB2):c.670T>G (p.Leu224Val)	TGFB2 (L224V +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 876566	NM_003238.6(TGFB2):c.734A>T (p.Glu245Val)	TGFB2 (E245V +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 387428	NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile)	TGFB2 (T258I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 295492	NM_003238.6(TGFB2):c.798T>A (p.Thr266=)	TGFB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 408430	NM_003238.6(TGFB2):c.918G>A (p.Ala306=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 295493	NM_003238.6(TGFB2):c.1029C>T (p.Ala343=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 873706	NM_003238.6(TGFB2):c.1087-13T>G	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GConflicting classifications of pathogenicity
Select item 295494	NM_003238.6(TGFB2):c.1181T>C (p.Ile394Thr)	TGFB2 (I394T +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GUncertain significance
Select item 873707	NM_003238.6(TGFB2):c.*21G>T	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295495	NM_003238.6(TGFB2):c.*39G>A	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 295496	NM_003238.6(TGFB2):c.*45A>G	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295497	NM_003238.6(TGFB2):c.*135G>A	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 873708	NM_003238.6(TGFB2):c.*193A>C	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295498	NM_003238.6(TGFB2):c.*201A>T	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 295499	NM_003238.6(TGFB2):c.*323CAA[9]	TGFB2	Microsatellite (3 prime UTR variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 874678	NM_003238.6(TGFB2):c.*338C>T	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 874679	NM_003238.6(TGFB2):c.*489A>G	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295500	NM_003238.6(TGFB2):c.*589C>A	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295501	NM_003238.6(TGFB2):c.*720T>C	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295502	NM_003238.6(TGFB2):c.*747A>C	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GBenign
Select item 295503	NM_003238.6(TGFB2):c.*772C>T	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295504	NM_003238.6(TGFB2):c.*782del	TGFB2	Deletion (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GUncertain significance
Select item 295505	NM_003238.6(TGFB2):c.*799del	TGFB2	Deletion (3 prime UTR variant +1 more)	Loeys-Dietz syndrome	GBenign
Select item 295506	NM_003238.6(TGFB2):c.*962A>G	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 874680	NM_003238.6(TGFB2):c.*969T>C	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 875621	NM_003238.6(TGFB2):c.*972A>C	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 875622	NM_003238.6(TGFB2):c.*1034A>C	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295507	NM_003238.6(TGFB2):c.*1128G>A	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 295508	NM_003238.6(TGFB2):c.*1198A>G	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295509	NM_003238.6(TGFB2):c.*1233dup	TGFB2	Duplication (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +2 more	GUncertain significance
Select item 295510	NM_003238.6(TGFB2):c.*1233del	TGFB2	Deletion (3 prime UTR variant +1 more)	Loeys-Dietz syndrome	GLikely benign
Select item 295511	NM_003238.6(TGFB2):c.*1229T>C	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295512	NM_003238.6(TGFB2):c.*1233T>A	TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 875623	NM_003238.6(TGFB2):c.*1271A>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295513	NM_003238.6(TGFB2):c.*1273T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295514	NM_003238.6(TGFB2):c.*1310C>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 295515	NM_003238.6(TGFB2):c.*1315T>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295516	NM_003238.6(TGFB2):c.*1338T>A	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 876621	NM_003238.6(TGFB2):c.*1389C>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 876622	NM_003238.6(TGFB2):c.*1428T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 876623	NM_003238.6(TGFB2):c.*1431A>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295517	NM_003238.6(TGFB2):c.*1443T>A	TGFB2-OT1, TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295518	NM_003238.6(TGFB2):c.*1502T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295519	NM_003238.6(TGFB2):c.*1585C>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign

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