TGFBR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121740739, LOC121811698 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC111365185, LOC111365191 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	EHMT1, ELAVL2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC124210608, LOC124210609 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LNCEGFL7OS, LOC100128361 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	FSD1L, GABBR2 +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	ABCA1, ABITRAM +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	ABCA1, ADIPINT +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	LOC130002280, LOC130002281 +253 more	Copy number loss	See cases	GPathogenic
Select item 2504011	NM_004612.4(TGFBR1):c.-91C>T	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 2506306	NM_004612.4(TGFBR1):c.-69C>A	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 914706	NM_004612.4(TGFBR1):c.-56G>A	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 213859	NM_004612.4(TGFBR1):c.-50_-49del	LOC130002223, TGFBR1	Deletion (5 prime UTR variant)	not specified	GBenign
Select item 380393	NM_004612.4(TGFBR1):c.-49C>G	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 364095	NM_004612.4(TGFBR1):c.-43C>A	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1242739	NM_004612.4(TGFBR1):c.-36GGGCC[4]	LOC130002223, TGFBR1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1221120	NM_004612.4(TGFBR1):c.-33C>T	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 914707	NM_004612.4(TGFBR1):c.-31G>A	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome 1	GUncertain significance
Select item 639379	NC_000009.12:g.(?_99105186)_(99105322_?)del	LOC130002223, TGFBR1	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 583800	NC_000009.12:g.(?_99105186)_(99221914_?)del	ALG2, LOC121331339 +10 more	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 1363743	NM_004612.4(TGFBR1):c.-12_14del (p.Met1fs)	LOC130002223, TGFBR1 (M1fs)	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 364096	NM_004612.4(TGFBR1):c.-13T>C	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 626770	NM_004612.4(TGFBR1):c.-10C>G	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1699509	NM_004612.4(TGFBR1):c.-5G>A	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 379554	NM_004612.4(TGFBR1):c.-4G>A	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 626771	NM_004612.4(TGFBR1):c.-3A>G	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 193288	NM_004612.4(TGFBR1):c.-2C>T	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 2748941	NM_004612.4(TGFBR1):c.3_27dup (p.Pro10fs)	LOC130002223, TGFBR1 (P10fs)	Duplication (frameshift variant +4 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2815854	NM_004612.4(TGFBR1):c.2T>C (p.Met1Thr)	LOC130002223, TGFBR1 (M1T)	Single nucleotide variant (missense variant +4 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2164234	NM_004612.4(TGFBR1):c.7G>A (p.Ala3Thr)	LOC130002223, TGFBR1 (A3T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 623489	NM_004612.4(TGFBR1):c.8C>T (p.Ala3Val)	LOC130002223, TGFBR1 (A3V)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely benign
Select item 2882555	NM_004612.4(TGFBR1):c.10G>A (p.Ala4Thr)	LOC130002223, TGFBR1 (A4T)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 841963	NM_004612.4(TGFBR1):c.11C>T (p.Ala4Val)	LOC130002223, TGFBR1 (A4V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1952776	NM_004612.4(TGFBR1):c.12G>C (p.Ala4=)	LOC130002223, TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1177254	NM_004612.4(TGFBR1):c.12G>A (p.Ala4=)	LOC130002223, TGFBR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1392891	NM_004612.4(TGFBR1):c.13G>A (p.Val5Ile)	LOC130002223, TGFBR1 (V5I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3635870	NM_004612.4(TGFBR1):c.14T>A (p.Val5Asp)	LOC130002223, TGFBR1 (V5D)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2586598	NM_004612.4(TGFBR1):c.14T>C (p.Val5Ala)	LOC130002223, TGFBR1 (V5A)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2235730	NM_004612.4(TGFBR1):c.14T>G (p.Val5Gly)	LOC130002223, TGFBR1 (V5G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1210069	NM_004612.4(TGFBR1):c.15C>T (p.Val5=)	LOC130002223, TGFBR1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2727320	NM_004612.4(TGFBR1):c.18T>A (p.Ala6=)	LOC130002223, TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 961643	NM_004612.4(TGFBR1):c.20C>G (p.Ala7Gly)	LOC130002223, TGFBR1 (A7G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 213860	NM_004612.4(TGFBR1):c.20C>T (p.Ala7Val)	LOC130002223, TGFBR1 (A7V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 213861	NM_004612.4(TGFBR1):c.23C>T (p.Pro8Leu)	LOC130002223, TGFBR1 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403529	NM_004612.4(TGFBR1):c.24del (p.Arg9fs)	LOC130002223, TGFBR1 (R9fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3455827	NM_004612.4(TGFBR1):c.26G>T (p.Arg9Leu)	LOC130002223, TGFBR1 (R9L)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2766008	NM_004612.4(TGFBR1):c.27T>C (p.Arg9=)	LOC130002223, TGFBR1	Single nucleotide variant (synonymous variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2566477	NM_004612.4(TGFBR1):c.28C>T (p.Pro10Ser)	LOC130002223, TGFBR1 (P10S)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 386598	NM_004612.4(TGFBR1):c.32G>A (p.Arg11Gln)	LOC130002223, TGFBR1 (R11Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 263928	NM_004612.4(TGFBR1):c.32G>C (p.Arg11Pro)	LOC130002223, TGFBR1 (R11P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 391903	NM_004612.4(TGFBR1):c.35T>C (p.Leu12Pro)	LOC130002223, TGFBR1 (L12P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 (intron 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)	Familial thoracic aortic aneurysm and aortic dissection +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 +1 more	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)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3665292	NM_004612.4(TGFBR1):c.52GCG[15] (p.Ala26_Leu27insAlaAlaAlaAlaAlaAla)	TGFBR1	Microsatellite (5 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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)	Familial thoracic aortic aneurysm and aortic dissection +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)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 408570	NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup)	TGFBR1	Microsatellite (inframe_insertion)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 213864	NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)	TGFBR1	Microsatellite (inframe_insertion)	Multiple self-healing squamous epithelioma +3 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)	Loeys-Dietz syndrome 1 +2 more	GUncertain significance
Select item 516727	NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 496263	NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 263873	NM_004612.4(TGFBR1):c.52GCG[7] (p.Ala25_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 213863	NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del)	TGFBR1 (A26del)	Microsatellite (inframe_deletion)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 165381	NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	not specified +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 3365216	NM_004612.4(TGFBR1):c.54_80delinsC (p.Ala20fs)	TGFBR1 (A20fs)	Indel (frameshift variant +3 more)	not provided	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)	not specified +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)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 915666	NM_004612.4(TGFBR1):c.65C>T (p.Ala22Val)	TGFBR1 (A22V)	Single nucleotide variant (missense variant)	not provided +1 more	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 3722524	NM_004612.4(TGFBR1):c.70_81del (p.Ala24_Leu27del)	TGFBR1	Deletion (5 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3806419	NM_004612.4(TGFBR1):c.80_97+14del	TGFBR1	Deletion (intron variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
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)	Familial thoracic aortic aneurysm and aortic dissection +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 3704117	NM_004612.4(TGFBR1):c.74C>T (p.Ala25Val)	TGFBR1 (A25V)	Single nucleotide variant (missense variant +3 more)	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 (synonymous 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

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