COL5A1[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	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 147417	GRCh38/hg38 9q34.2-34.3(chr9:134492275-135456038)x3	COL5A1, COL5A1-AS1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 154081	GRCh38/hg38 9q34.3(chr9:134543703-134725867)x1	COL5A1, COL5A1-AS1 +2 more	Copy number loss	See cases	GPathogenic
Select item 1202348	NC_000009.12:g.134641511C>G	COL5A1	Single nucleotide variant	not provided	GLikely benign
Select item 1204689	NC_000009.12:g.134641590C>T	COL5A1	Single nucleotide variant	not provided	GLikely benign
Select item 671043	NM_000093.3(COL5A1):c.-400C>G	COL5A1	Single nucleotide variant	not provided	GBenign
Select item 417457	NC_000009.11:g.(?_137533651)_(137534142_?)dup	COL5A1	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 365696	NM_000093.5(COL5A1):c.-382C>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 365697	NM_000093.5(COL5A1):c.-364G>C	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 365698	NM_000093.5(COL5A1):c.-357G>T	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365699	NM_000093.5(COL5A1):c.-287G>C	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365700	NM_000093.5(COL5A1):c.-276AGG[7]	COL5A1	Microsatellite (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 1199542	NM_000093.5(COL5A1):c.-249G>A	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 365701	NM_000093.5(COL5A1):c.-247T>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 915167	NM_000093.5(COL5A1):c.-199C>T	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, classic type	GBenign
Select item 1200990	NM_000093.5(COL5A1):c.-180C>A	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 365702	NM_000093.5(COL5A1):c.-139G>T	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365703	NM_000093.5(COL5A1):c.-110A>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 136921	NM_000093.5(COL5A1):c.-37G>A	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, classic type +5 more	GBenign/Likely benign
Select item 512002	NM_000093.5(COL5A1):c.-28_-7del	COL5A1	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 388399	NM_000093.5(COL5A1):c.-33G>T	COL5A1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507366	NM_000093.5(COL5A1):c.-17G>A	COL5A1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 136923	NM_000093.5(COL5A1):c.-15C>A	COL5A1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 511164	NM_000093.5(COL5A1):c.-14C>T	COL5A1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 655757	NC_000009.12:g.(?_134642178)_(134768473_?)del	COL5A1, COL5A1-AS1 +1 more	Deletion	Ehlers-Danlos syndrome, classic type +1 more	GPathogenic
Select item 506690	NM_000093.5(COL5A1):c.-4C>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 2448282	NM_000093.5(COL5A1):c.-1C>A	COL5A1	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1381199	NM_000093.5(COL5A1):c.1A>G (p.Met1Val)	COL5A1 (M1V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 2011378	NM_000093.5(COL5A1):c.2T>G (p.Met1Arg)	COL5A1 (M1R)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 2750255	NM_000093.5(COL5A1):c.3G>T (p.Met1Ile)	COL5A1 (M1I)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 423543	NM_000093.5(COL5A1):c.6C>G (p.Asp2Glu)	COL5A1 (D2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478538	NM_000093.5(COL5A1):c.7G>T (p.Val3Phe)	COL5A1 (V3F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 513316	NM_000093.5(COL5A1):c.9C>A (p.Val3=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1049621	NM_000093.5(COL5A1):c.12T>G (p.His4Gln)	COL5A1 (H4Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380649	NM_000093.5(COL5A1):c.12T>C (p.His4=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 1927932	NM_000093.5(COL5A1):c.15C>A (p.Thr5=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2038879	NM_000093.5(COL5A1):c.16C>T (p.Arg6Cys)	COL5A1 (R6C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 841171	NM_000093.5(COL5A1):c.16C>G (p.Arg6Gly)	COL5A1 (R6G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1780375	NM_000093.5(COL5A1):c.17G>T (p.Arg6Leu)	COL5A1 (R6L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2625450	NM_000093.5(COL5A1):c.19T>C (p.Trp7Arg)	COL5A1 (W7R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 959868	NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)	COL5A1 (A9E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 459666	NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys)	COL5A1 (R10C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1727603	NM_000093.5(COL5A1):c.30C>G (p.Arg10=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2707805	NM_000093.5(COL5A1):c.32G>T (p.Ser11Ile)	COL5A1 (S11I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 459676	NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr)	COL5A1 (A12T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 575139	NM_000093.5(COL5A1):c.35C>A (p.Ala12Glu)	COL5A1 (A12E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 529300	NM_000093.5(COL5A1):c.36G>A (p.Ala12=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 377719	NM_000093.5(COL5A1):c.36G>C (p.Ala12=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 365704	NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe)	COL5A1 (L13F)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1934888	NM_000093.5(COL5A1):c.40C>T (p.Arg14Cys)	COL5A1 (R14C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 513985	NM_000093.5(COL5A1):c.42C>T (p.Arg14=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2144489	NM_000093.5(COL5A1):c.43C>T (p.Pro15Ser)	COL5A1 (P15S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3230317	NM_000093.5(COL5A1):c.45G>C (p.Pro15=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1951645	NM_000093.5(COL5A1):c.45G>A (p.Pro15=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2145114	NM_000093.5(COL5A1):c.49G>T (p.Ala17Ser)	COL5A1 (A17S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 1386438	NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[3] (p.Pro21_Leu24dup)	COL5A1	Microsatellite (inframe_insertion)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3004284	NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[1] (p.Pro21_Leu24del)	COL5A1	Microsatellite (inframe_deletion)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 409115	NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser)	COL5A1 (P18S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2194822	NM_000093.5(COL5A1):c.53C>G (p.Pro18Arg)	COL5A1 (P18R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1747949	NM_000093.5(COL5A1):c.54del (p.Leu19fs)	COL5A1 (L19fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 696848	NM_000093.5(COL5A1):c.57G>A (p.Leu19=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 2810950	NM_000093.5(COL5A1):c.58C>T (p.Leu20=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 212930	NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)	COL5A1 (P21S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GBenign/Likely benign
Select item 1163513	NM_000093.5(COL5A1):c.62C>T (p.Pro21Leu)	COL5A1 (P21L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740841	NM_000093.5(COL5A1):c.63C>T (p.Pro21=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2683086	NM_000093.5(COL5A1):c.64C>G (p.Pro22Ala)	COL5A1 (P22A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315839	NM_000093.5(COL5A1):c.67CTG[8] (p.Leu27_Leu28dup)	COL5A1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1044029	NM_000093.5(COL5A1):c.67CTG[9] (p.Leu26_Leu28dup)	COL5A1	Microsatellite (inframe_insertion)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 285805	NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)	COL5A1	Microsatellite (inframe_insertion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 213027	NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg)	COL5A1 (P22R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 213026	NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln)	COL5A1 (P22Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1995952	NM_000093.5(COL5A1):c.67CTG[4] (p.Leu27_Leu28del)	COL5A1	Microsatellite (inframe_deletion)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 570337	NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del)	COL5A1 (L28del)	Microsatellite (inframe_deletion)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 519631	NM_000093.5(COL5A1):c.67CTG[3] (p.Leu26_Leu28del)	COL5A1	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1709782	NM_000093.5(COL5A1):c.67C>G (p.Leu23Val)	COL5A1 (L23V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2577577	NM_000093.5(COL5A1):c.71_74delinsCCCC (p.Leu24_Leu25delinsProPro)	COL5A1	Indel (missense variant)	not provided	GUncertain significance
Select item 2054983	NM_000093.5(COL5A1):c.71T>A (p.Leu24Gln)	COL5A1 (L24Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3068722	NM_000093.5(COL5A1):c.74T>C (p.Leu25Pro)	COL5A1 (L25P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 1059268	NM_000093.5(COL5A1):c.74T>G (p.Leu25Arg)	COL5A1 (L25R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic

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