TGFBR1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2054060	NM_004612.4(TGFBR1):c.37CTC[4] (p.Leu15_Val16insLeu)	TGFBR1	Microsatellite (inframe_insertion +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1550089	NM_004612.4(TGFBR1):c.36G>A (p.Leu12=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2200566	NM_004612.4(TGFBR1):c.39C>G (p.Leu13=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1356148	NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro)	TGFBR1 (L14P)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 1 +3 more	GUncertain significance
Select item 1596434	NM_004612.4(TGFBR1):c.42C>T (p.Leu14=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2054881	NM_004612.4(TGFBR1):c.43C>T (p.Leu15Phe)	TGFBR1 (L15F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1741792	NM_004612.4(TGFBR1):c.45C>T (p.Leu15=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 477556	NM_004612.4(TGFBR1):c.46G>A (p.Val16Met)	TGFBR1 (V16M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 2575618	NM_004612.4(TGFBR1):c.50_52dup (p.Leu17_Ala18insVal)	TGFBR1	Duplication (inframe_insertion +3 more)	not provided	GUncertain significance
Select item 239962	NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 2430557	NM_004612.4(TGFBR1):c.50T>C (p.Leu17Pro)	TGFBR1 (L17P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702290	NM_004612.4(TGFBR1):c.50T>A (p.Leu17Gln)	TGFBR1 (L17Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1026429	NM_004612.4(TGFBR1):c.52GCG[14] (p.Ala22_Ala26dup)	TGFBR1	Microsatellite (inframe_insertion)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 543893	NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup)	TGFBR1	Microsatellite (inframe_insertion)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 496264	NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup)	TGFBR1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 408570	NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup)	TGFBR1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 213864	NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)	TGFBR1	Microsatellite (inframe_insertion)	TGFBR1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 213862	NM_004612.4(TGFBR1):c.50_58del (p.Leu17_Ala20delinsPro)	TGFBR1	Deletion (inframe_indel)	not specified	GBenign
Select item 2192641	NM_004612.4(TGFBR1):c.51G>C (p.Leu17=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1425678	NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 516727	NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	TGFBR1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 496263	NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 263873	NM_004612.4(TGFBR1):c.52GCG[7] (p.Ala25_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 213863	NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del)	TGFBR1 (A26del)	Microsatellite (inframe_deletion)	not provided +3 more	GBenign/Likely benign
Select item 165381	NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	Loeys-Dietz syndrome 1 +5 more	GBenign/Likely benign
Select item 1702291	NM_004612.4(TGFBR1):c.52G>T (p.Ala18Ser)	TGFBR1 (A18S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1396060	NM_004612.4(TGFBR1):c.52G>A (p.Ala18Thr)	TGFBR1 (A18T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1416414	NM_004612.4(TGFBR1):c.56C>T (p.Ala19Val)	TGFBR1 (A19V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 929101	NM_004612.4(TGFBR1):c.59C>T (p.Ala20Val)	TGFBR1 (A20V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
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 444775	NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val)	TGFBR1 (A21V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 915666	NM_004612.4(TGFBR1):c.65C>T (p.Ala22Val)	TGFBR1 (A22V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1754983	NM_004612.4(TGFBR1):c.66G>A (p.Ala22=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 263391	NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs)	TGFBR1 (A24fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 641375	NM_004612.4(TGFBR1):c.71C>T (p.Ala24Val)	TGFBR1 (A24V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1442902	NM_004612.4(TGFBR1):c.73_81del (p.Ala25_Leu27del)	TGFBR1	Deletion (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2426768	NM_004612.4(TGFBR1):c.75G>T (p.Ala25=)	TGFBR1	Single nucleotide variant (intron variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 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 1369562	NM_004612.4(TGFBR1):c.80_85del (p.Leu27_Leu28del)	TGFBR1	Deletion (inframe_deletion)	not specified +1 more	GUncertain significance
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 2779203	NM_004612.4(TGFBR1):c.85C>T (p.Pro29Ser)	TGFBR1 (P29S)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 543911	NM_004612.4(TGFBR1):c.87G>C (p.Pro29=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 934744	NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg)	TGFBR1 (G30R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 477565	NM_004612.4(TGFBR1):c.89G>T (p.Gly30Val)	TGFBR1 (G30V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2091453	NM_004612.4(TGFBR1):c.91G>T (p.Ala31Ser)	TGFBR1 (A31S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 664481	NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala)	TGFBR1 (T32A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 2012888	NM_004612.4(TGFBR1):c.97+2_97+35dup	TGFBR1	Duplication (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2819738	NM_004612.4(TGFBR1):c.97+4_97+22dup	TGFBR1	Duplication (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2836460	NM_004612.4(TGFBR1):c.97+3G>A	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2151543	NM_004612.4(TGFBR1):c.97+6C>T	TGFBR1	Single nucleotide variant (intron variant)	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 1909013	NM_004612.4(TGFBR1):c.97+7G>C	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 547807	NM_004612.4(TGFBR1):c.97+14C>T	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 364097	NM_004612.4(TGFBR1):c.97+15GGCG[4]	TGFBR1	Microsatellite (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 2112244	NM_004612.4(TGFBR1):c.97+15GGCG[2]	TGFBR1	Microsatellite (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2827473	NM_004612.4(TGFBR1):c.97+16G>A	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1604013	NM_004612.4(TGFBR1):c.97+17C>A	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2885679	NM_004612.4(TGFBR1):c.97+18G>A	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2152652	NM_004612.4(TGFBR1):c.97+26_97+44dup	TGFBR1	Duplication (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 668314	NM_004612.4(TGFBR1):c.97+27_97+41dup	TGFBR1	Duplication (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1801764	NM_004612.4(TGFBR1):c.98-866A>G	TGFBR1	Single nucleotide variant (intron variant)	Myoepithelial tumor	GUncertain significance
Select item 1279687	NM_004612.4(TGFBR1):c.98-157A>G	TGFBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2022591	NM_004612.4(TGFBR1):c.98-19A>C	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2697022	NM_004612.4(TGFBR1):c.98-18A>T	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2871812	NM_004612.4(TGFBR1):c.98-17T>C	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 722858	NM_004612.4(TGFBR1):c.98-6T>C	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 743853	NM_004612.4(TGFBR1):c.98-5T>C	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 547045	NM_004612.4(TGFBR1):c.98-4C>A	TGFBR1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1805979	NM_004612.4(TGFBR1):c.98-1G>A	TGFBR1	Single nucleotide variant (splice acceptor variant +1 more)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 919533	NM_004612.4(TGFBR1):c.98C>G (p.Ala33Gly)	TGFBR1 (A33G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 520229	NM_004612.4(TGFBR1):c.98C>T (p.Ala33Val)	TGFBR1 (A33V)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 477566	NM_004612.4(TGFBR1):c.99G>A (p.Ala33=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +1 more	GLikely benign
Select item 1445913	NM_004612.4(TGFBR1):c.102dup (p.Gln35fs)	TGFBR1 (Q35fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 1622899	NM_004612.4(TGFBR1):c.102A>G (p.Leu34=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2886858	NM_004612.4(TGFBR1):c.115C>T (p.His39Tyr)	TGFBR1 (H39Y)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	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 2725869	NM_004612.4(TGFBR1):c.117C>A (p.His39Gln)	TGFBR1 (H39Q)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1529424	NM_004612.4(TGFBR1):c.120C>G (p.Leu40=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 178135	NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)	TGFBR1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 1625716	NM_004612.4(TGFBR1):c.126A>G (p.Thr42=)	TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2707711	NM_004612.4(TGFBR1):c.132C>T (p.Asp44=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 29915	NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)	TGFBR1 (N45S)	Single nucleotide variant (missense variant)	Isolated thoracic aortic aneurysm +6 more	GUncertain significance
Select item 383294	NM_004612.4(TGFBR1):c.135T>C (p.Asn45=)	TGFBR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 648695	NM_004612.4(TGFBR1):c.149C>G (p.Thr50Arg)	TGFBR1 (T50R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 29916	NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg)	TGFBR1 (G52R)	Single nucleotide variant (missense variant)	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 2819019	NM_004612.4(TGFBR1):c.156G>C (p.Gly52=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1932271	NM_004612.4(TGFBR1):c.156G>A (p.Gly52=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 920219	NM_004612.4(TGFBR1):c.157C>T (p.Leu53Phe)	TGFBR1 (L53F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2774548	NM_004612.4(TGFBR1):c.159C>T (p.Leu53=)	TGFBR1	Single nucleotide variant (5 prime UTR variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 2844666	NM_004612.4(TGFBR1):c.162C>T (p.Cys54=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 810397	NM_004612.4(TGFBR1):c.163T>C (p.Phe55Leu)	TGFBR1 (F55L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693347	NM_004612.4(TGFBR1):c.166G>A (p.Val56Ile)	TGFBR1 (V56I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788350	NM_004612.4(TGFBR1):c.170C>G (p.Ser57Cys)	TGFBR1 (S57C)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2579067	NM_004612.4(TGFBR1):c.174C>G (p.Val58=)	TGFBR1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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

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