ClinVar for MedGen (Select 395827) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (synonymous 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 3044240	NM_004612.4(TGFBR1):c.945T>C (p.His315=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	TGFBR1-related condition +1 more	GLikely benign
Select item 3026815	NM_004612.4(TGFBR1):c.1278G>C (p.Leu426=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2989487	NM_004612.4(TGFBR1):c.1475_1477del (p.Leu492del)	TGFBR1 (L256del +9 more)	Deletion (inframe_deletion +1 more)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 2903406	NM_004612.4(TGFBR1):c.435C>G (p.Val145=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 2806437	NM_004612.4(TGFBR1):c.1131-8T>C	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 2780301	NM_005902.4(SMAD3):c.770_771del (p.Val257fs)	SMAD3 (V152fs +5 more)	Microsatellite (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 2774553	NM_004612.4(TGFBR1):c.691G>A (p.Val231Ile)	TGFBR1 (V154I +6 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2692487	NM_003239.5(TGFB3):c.884del (p.Gly295fs)	TGFB3 (G295fs)	Deletion (frameshift variant)	Rienhoff syndrome +1 more	GLikely pathogenic
Select item 2692427	NM_004612.4(TGFBR1):c.1446G>C (p.Arg482Ser)	TGFBR1 (R323S +9 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome	GLikely pathogenic
Select item 2451989	NM_004612.4(TGFBR1):c.1438G>A (p.Ala480Thr)	TGFBR1 (A415T +9 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2155696	NM_004612.4(TGFBR1):c.305A>G (p.Asn102Ser)	TGFBR1 (N33S +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 2136637	NM_004612.4(TGFBR1):c.1131-3dup	TGFBR1	Duplication (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 2051190	NM_004612.4(TGFBR1):c.555A>G (p.Thr185=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2000212	NM_004612.4(TGFBR1):c.1131-11A>T	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1990196	NM_004612.4(TGFBR1):c.1208C>G (p.Ala403Gly)	TGFBR1 (A338G +9 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1980187	NM_004612.4(TGFBR1):c.806-14A>G	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1773102	NM_004612.4(TGFBR1):c.1459C>A (p.Arg487=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome +2 more	GLikely benign
Select item 1772338	NM_004612.4(TGFBR1):c.1424G>C (p.Trp475Ser)	TGFBR1 (W239S +9 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1768680	NM_004612.4(TGFBR1):c.993T>C (p.His331=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1765282	NM_004612.4(TGFBR1):c.896T>C (p.Val299Ala)	TGFBR1 (V140A +7 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1757425	NM_004612.4(TGFBR1):c.1238G>A (p.Arg413Gln)	TGFBR1 (R331Q +9 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1722404	NM_004612.4(TGFBR1):c.1203C>A (p.Ile401=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1690433	NM_004612.4(TGFBR1):c.1287T>C (p.Tyr429=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1687722	NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys)	TGFBR2 (M434K +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome	GPathogenic
Select item 1512894	NM_004612.4(TGFBR1):c.940G>T (p.Ala314Ser)	TGFBR1 (A237S +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1512054	NM_004612.4(TGFBR1):c.1256-3C>T	TGFBR1	Single nucleotide variant (intron variant)	TGFBR1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1473074	NM_004612.4(TGFBR1):c.331C>G (p.Leu111Val)	TGFBR1 (L111V)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1463632	NM_004612.4(TGFBR1):c.1222T>A (p.Phe408Ile)	TGFBR1 (F412I +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1393030	NM_004612.4(TGFBR1):c.961G>T (p.Val321Phe)	TGFBR1 (V321F +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1383024	NM_004612.4(TGFBR1):c.899A>G (p.Glu300Gly)	TGFBR1 (E223G +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1335731	NM_004612.4(TGFBR1):c.805+5_805+6del	TGFBR1	Deletion (intron variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1332538	NM_004612.4(TGFBR1):c.297T>C (p.Tyr99=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 1332007	NM_004612.4(TGFBR1):c.805+5del	TGFBR1	Deletion (intron variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1330859	NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp)	TGFBR1 (E60D)	Single nucleotide variant (missense variant)	TGFBR1-related condition +3 more	GUncertain significance
Select item 1313944	NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu)	TGFBR1 (S360L +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +3 more	GUncertain significance
Select item 1305247	NM_004612.4(TGFBR1):c.730C>T (p.Arg244Cys)	TGFBR1 (R167C +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +2 more	GUncertain significance
Select item 1172860	NM_005902.4(SMAD3):c.532+1G>C	SMAD3	Single nucleotide variant (splice donor variant +1 more)	Loeys-Dietz syndrome +1 more	GLikely pathogenic
Select item 1171606	NM_004612.4(TGFBR1):c.1210A>G (p.Met404Val)	TGFBR1 (M327V +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1171540	NM_004612.4(TGFBR1):c.239G>A (p.Arg80Gln)	TGFBR1 (R80Q)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1171266	NM_004612.4(TGFBR1):c.1133A>G (p.Tyr378Cys)	TGFBR1 (Y301C +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1171066	NM_004612.4(TGFBR1):c.1350A>G (p.Leu450=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 1163502	NM_004612.4(TGFBR1):c.1256-3C>A	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 1081254	NM_004612.4(TGFBR1):c.516A>G (p.Ser172=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome +5 more	GConflicting classifications of pathogenicity
Select item 940612	NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met)	TGFBR1 (T309M +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1 +3 more	GUncertain significance
Select item 928363	NM_004612.4(TGFBR1):c.1284T>C (p.Tyr428=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 927905	NM_004612.4(TGFBR1):c.1196C>G (p.Ala399Gly)	TGFBR1 (A322G +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 927884	NM_004612.4(TGFBR1):c.1360A>G (p.Ile454Val)	TGFBR1 (I377V +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 927652	NM_004612.4(TGFBR1):c.193G>A (p.Val65Ile)	TGFBR1 (V65I)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 927276	NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)	TGFBR1 (T364S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 926842	NM_004612.4(TGFBR1):c.376C>G (p.Leu126Val)	TGFBR1 (L126V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 926038	NM_004612.4(TGFBR1):c.883T>A (p.Tyr295Asn)	TGFBR1 (Y218N +2 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 924220	NM_004612.4(TGFBR1):c.1236T>G (p.Ala412=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 924183	NM_004612.4(TGFBR1):c.398C>T (p.Pro133Leu)	TGFBR1 (P133L +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 923433	NM_004612.4(TGFBR1):c.1211T>C (p.Met404Thr)	TGFBR1 (M404T +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 922822	NM_004612.4(TGFBR1):c.1008A>G (p.Ser336=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign

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