ClinVar for Gene (Select 7046) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337667	NM_004612.4(TGFBR1):c.1042T>C (p.Cys348Arg)	TGFBR1 (C112R +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3325716	NM_004612.4(TGFBR1):c.175A>C (p.Thr59Pro)	TGFBR1 (T59P)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325715	NM_004612.4(TGFBR1):c.638A>G (p.Lys213Arg)	TGFBR1 (K131R +6 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325714	NM_004612.4(TGFBR1):c.1385A>T (p.Glu462Val)	TGFBR1 (E466V +9 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325713	NM_004612.4(TGFBR1):c.228C>T (p.Asp76=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3325711	NM_004612.4(TGFBR1):c.1052A>G (p.Asp351Gly)	TGFBR1 (D192G +9 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3252841	NM_004612.4(TGFBR1):c.997G>A (p.Asp333Asn)	TGFBR1 (D174N +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3245272	NC_000009.11:g.(?_101900313)_(101903689_?)del	TGFBR1	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3245271	NC_000009.11:g.(?_101904798)_(101911587_?)dup	TGFBR1	Duplication	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3245270	NC_000009.11:g.(?_101867488)_(101895041_?)dup	TGFBR1	Duplication	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3245269	NC_000009.11:g.(?_101867488)_(101891402_?)del	TGFBR1	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3224341	NM_004612.4(TGFBR1):c.77C>T (p.Ala26Val)	TGFBR1 (A26V)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224340	NM_004612.4(TGFBR1):c.76G>A (p.Ala26Thr)	TGFBR1 (A26T)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224339	NM_004612.4(TGFBR1):c.548A>G (p.Asp183Gly)	TGFBR1 (D101G +4 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224338	NM_004612.4(TGFBR1):c.491C>G (p.Pro164Arg)	TGFBR1 (P164R +4 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224337	NM_004612.4(TGFBR1):c.262C>T (p.Pro88Ser)	TGFBR1 (P19S +1 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224336	NM_004612.4(TGFBR1):c.161G>A (p.Cys54Tyr)	TGFBR1 (C54Y)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224335	NM_004612.4(TGFBR1):c.1045A>G (p.Ile349Val)	TGFBR1 (I113V +9 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3176661	NM_004612.4(TGFBR1):c.156G>T (p.Gly52=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3076060	NM_004612.4(TGFBR1):c.1131-1G>A	TGFBR1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3075667	NM_004612.4(TGFBR1):c.650G>A (p.Gly217Glu)	TGFBR1 (G135E +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome 1	GLikely pathogenic
Select item 3075528	NM_004612.4(TGFBR1):c.308A>G (p.Gln103Arg)	TGFBR1 (Q103R +1 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3075446	NM_004612.4(TGFBR1):c.367C>G (p.Pro123Ala)	TGFBR1 (P123A +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3075036	NM_004612.4(TGFBR1):c.592C>G (p.Gln198Glu)	TGFBR1 (Q116E +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3074836	NM_004612.4(TGFBR1):c.1283A>G (p.Tyr428Cys)	TGFBR1 (Y192C +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3074673	NM_004612.4(TGFBR1):c.1002G>A (p.Leu334=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome	GLikely benign
Select item 3074454	NM_004612.4(TGFBR1):c.551T>C (p.Met184Thr)	TGFBR1 (M102T +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3073261	NM_004612.4(TGFBR1):c.117C>T (p.His39=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3073082	NM_004612.4(TGFBR1):c.397C>T (p.Pro133Ser)	TGFBR1 (P133S +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3072900	NM_004612.4(TGFBR1):c.701T>G (p.Phe234Cys)	TGFBR1 (F152C +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3072866	NM_004612.4(TGFBR1):c.1201A>G (p.Ile401Val)	TGFBR1 (I165V +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3072783	NM_004612.4(TGFBR1):c.438T>C (p.Tyr146=)	TGFBR1	Single nucleotide variant (intron variant +2 more)	Loeys-Dietz syndrome	GLikely benign
Select item 3072734	NM_004612.4(TGFBR1):c.1224C>G (p.Phe408Leu)	TGFBR1 (F172L +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3072725	NM_004612.4(TGFBR1):c.848A>T (p.His283Leu)	TGFBR1 (H124L +7 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3072379	NM_004612.4(TGFBR1):c.1255+7del	TGFBR1	Deletion (intron variant)	Loeys-Dietz syndrome	GUncertain significance
Select item 3072314	NM_004612.4(TGFBR1):c.1451C>G (p.Thr484Arg)	TGFBR1 (T248R +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3072295	NM_004612.4(TGFBR1):c.122_123del (p.Cys41fs)	TGFBR1 (C41fs)	Deletion (frameshift variant +3 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3072239	NM_004612.4(TGFBR1):c.1387-15T>C	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome	GLikely benign
Select item 3072103	NM_004612.4(TGFBR1):c.730C>G (p.Arg244Gly)	TGFBR1 (R162G +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3072049	NM_004612.4(TGFBR1):c.1000T>G (p.Leu334Val)	TGFBR1 (L175V +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3071947	NM_004612.4(TGFBR1):c.760T>G (p.Leu254Val)	TGFBR1 (L172V +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3071921	NM_004612.4(TGFBR1):c.1073A>G (p.His358Arg)	TGFBR1 (H122R +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3071870	NM_004612.4(TGFBR1):c.1449T>G (p.Leu483=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome	GLikely benign
Select item 3071547	NM_004612.4(TGFBR1):c.1253G>C (p.Gly418Ala)	TGFBR1 (G182A +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3071473	NM_004612.4(TGFBR1):c.1399A>G (p.Met467Val)	TGFBR1 (M231V +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3071324	NM_004612.4(TGFBR1):c.1249A>T (p.Ile417Phe)	TGFBR1 (I181F +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3071245	NM_004612.4(TGFBR1):c.1019del (p.Leu340fs)	TGFBR1 (L104fs +9 more)	Deletion (frameshift variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3071220	NM_004612.4(TGFBR1):c.806-3C>T	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome	GLikely benign
Select item 3071069	NM_004612.4(TGFBR1):c.344-15G>A	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome	GUncertain significance
Select item 3071065	NM_004612.4(TGFBR1):c.892A>C (p.Thr298Pro)	TGFBR1 (T139P +7 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3071034	NM_004612.4(TGFBR1):c.*3C>A	TGFBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3070987	NM_004612.4(TGFBR1):c.1241G>A (p.Arg414Gln)	TGFBR1 (R178Q +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3070925	NM_004612.4(TGFBR1):c.1382G>A (p.Cys461Tyr)	TGFBR1 (C225Y +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3070899	NM_004612.4(TGFBR1):c.463C>T (p.His155Tyr)	TGFBR1 (H155Y +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3070892	NM_004612.4(TGFBR1):c.575-4_575-3dup	TGFBR1	Duplication (intron variant)	Loeys-Dietz syndrome	GUncertain significance
Select item 3070787	NM_004612.4(TGFBR1):c.313dup (p.His105fs)	TGFBR1 (H105fs +1 more)	Duplication (frameshift variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3070751	NM_004612.4(TGFBR1):c.546T>C (p.Tyr182=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome	GLikely benign
Select item 3070635	NM_004612.4(TGFBR1):c.1046T>C (p.Ile349Thr)	TGFBR1 (I113T +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3070515	NM_004612.4(TGFBR1):c.1426T>A (p.Tyr476Asn)	TGFBR1 (Y240N +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3070150	NM_004612.4(TGFBR1):c.1017C>G (p.Ile339Met)	TGFBR1 (I103M +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3069891	NM_004612.4(TGFBR1):c.680A>C (p.Glu227Ala)	TGFBR1 (E145A +6 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3069710	NM_004612.4(TGFBR1):c.324A>C (p.Lys108Asn)	TGFBR1 (K108N +1 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3069471	NM_004612.4(TGFBR1):c.421C>T (p.Leu141Phe)	TGFBR1 (L141F +4 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3069458	NM_004612.4(TGFBR1):c.872A>G (p.Tyr291Cys)	TGFBR1 (Y132C +7 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3069404	NM_004612.4(TGFBR1):c.808A>G (p.Asn270Asp)	TGFBR1 (N111D +7 more)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 3069348	NM_004612.4(TGFBR1):c.939T>C (p.Leu313=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome	GLikely benign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3044240	NM_004612.4(TGFBR1):c.945T>C (p.His315=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	TGFBR1-related disorder +1 more	GLikely benign
Select item 3026815	NM_004612.4(TGFBR1):c.1278G>C (p.Leu426=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 3021876	NM_004612.4(TGFBR1):c.1255+19C>T	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3021548	NM_004612.4(TGFBR1):c.243T>C (p.Asp81=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3021015	NM_004612.4(TGFBR1):c.1386+6del	TGFBR1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3019610	NM_004612.4(TGFBR1):c.1143T>C (p.Pro381=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3019317	NM_004612.4(TGFBR1):c.895G>A (p.Val299Met)	TGFBR1 (V222M +7 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3017274	NM_004612.4(TGFBR1):c.1153G>A (p.Asp385Asn)	TGFBR1 (D226N +9 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3016789	NM_004612.4(TGFBR1):c.97+7G>A	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3009653	NM_004612.4(TGFBR1):c.1131-16T>C	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3002563	NM_004612.4(TGFBR1):c.84C>T (p.Leu28=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2996048	NM_004612.4(TGFBR1):c.690T>C (p.Ala230=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2989487	NM_004612.4(TGFBR1):c.1475_1477del (p.Leu492del)	TGFBR1 (L256del +9 more)	Deletion (inframe_deletion +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2979972	NM_004612.4(TGFBR1):c.1416A>G (p.Arg472=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2972640	NM_004612.4(TGFBR1):c.1043G>A (p.Cys348Tyr)	TGFBR1 (C112Y +9 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2967447	NM_004612.4(TGFBR1):c.1230A>G (p.Glu410=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2965409	NM_004612.4(TGFBR1):c.70_97+13dup	TGFBR1	Duplication (intron variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2959850	NM_004612.4(TGFBR1):c.1256-9C>T	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2957082	NM_004612.4(TGFBR1):c.343+1G>A	TGFBR1	Single nucleotide variant (splice donor variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 2919536	NM_004612.4(TGFBR1):c.1189A>T (p.Lys397Ter)	TGFBR1 (K161* +9 more)	Single nucleotide variant (nonsense +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2916972	NM_004612.4(TGFBR1):c.1131-3del	TGFBR1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2916169	NM_004612.4(TGFBR1):c.574+6A>G	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2914690	NM_004612.4(TGFBR1):c.97+12C>G	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2914387	NM_004612.4(TGFBR1):c.1130+19A>G	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2911340	NM_004612.4(TGFBR1):c.1131-19T>G	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2903697	NM_004612.4(TGFBR1):c.973+17T>A	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2903492	NM_004612.4(TGFBR1):c.1414A>C (p.Arg472=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2903406	NM_004612.4(TGFBR1):c.435C>G (p.Val145=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2901533	NM_004612.4(TGFBR1):c.1483C>T (p.Leu495Phe)	TGFBR1 (L336F +9 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2901304	NM_004612.4(TGFBR1):c.1130+14C>A	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2897486	NM_004612.4(TGFBR1):c.1476A>G (p.Leu492=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2894382	NM_004612.4(TGFBR1):c.1193G>A (p.Arg398His)	TGFBR1 (R162H +9 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2892613	NM_004612.4(TGFBR1):c.343+14A>C	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign

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