ClinVar for MedGen (Select 1778238) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 218

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1566375	NM_000093.5(COL5A1):c.786+11T>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 1552535	NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 1527853	NM_000093.5(COL5A1):c.2153del (p.Gly718fs)	COL5A1 (G718fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 1353147	NM_000093.5(COL5A1):c.700T>C (p.Tyr234His)	COL5A1 (Y234H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1318896	NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln)	COL5A1 (R948Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 1256656	NM_000093.5(COL5A1):c.1495-11C>A	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +2 more	GBenign/Likely benign
Select item 1194020	NM_000093.5(COL5A1):c.5136+152C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 1000461	NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys)	COL5A1, LOC101448202 (E1599K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 992509	NM_000093.5(COL5A1):c.5137-8C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 971716	NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)	COL5A1 (R66*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic/Likely pathogenic
Select item 914561	NM_000093.5(COL5A1):c.3115-14G>A	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign/Likely benign
Select item 862264	NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser)	COL5A1 (T984S)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +1 more	GUncertain significance
Select item 827999	NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter)	COL5A1, LOC101448202 (Q1796*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic/Likely pathogenic
Select item 701246	NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)	COL5A1 (P656L)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +4 more	GConflicting classifications of pathogenicity
Select item 625924	NM_000093.5(COL5A1):c.2030A>T (p.Glu677Val)	COL5A1 (E677V)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +2 more	GUncertain significance
Select item 529301	NM_000093.5(COL5A1):c.5371-8T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 519643	NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)	COL5A1 (P435L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 516607	NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 516348	NM_000093.5(COL5A1):c.2751G>A (p.Pro917=)	COL5A1	Single nucleotide variant (synonymous variant)	COL5A1-related disorder +5 more	GBenign/Likely benign
Select item 513070	NM_000093.5(COL5A1):c.4699-3del	COL5A1, LOC101448202	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 512378	NM_000093.5(COL5A1):c.5371-17G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 509585	NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 507869	NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign/Likely benign
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 459706	NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +5 more	GBenign/Likely benign
Select item 459690	NM_000093.5(COL5A1):c.4231-9G>A	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign/Likely benign
Select item 459656	NM_000093.5(COL5A1):c.1401C>T (p.Ile467=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 459652	NM_000093.5(COL5A1):c.1143C>T (p.Ala381=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +2 more	GBenign/Likely benign
Select item 449274	NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His)	LOC101448202, COL5A1 (P1780H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 439531	NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 439528	NM_000093.5(COL5A1):c.4177-107T>C	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 439527	NM_000093.5(COL5A1):c.4230+118C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 439526	NM_000093.5(COL5A1):c.4230+103T>C	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 439525	NM_000093.5(COL5A1):c.1570-59T>C	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 439524	NM_000093.5(COL5A1):c.1332+92C>G	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 426317	NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)	COL5A1 (G1087A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 392550	NM_000093.5(COL5A1):c.3906+15G>A	COL5A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 390929	NM_000093.5(COL5A1):c.3528+19G>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +2 more	GBenign/Likely benign
Select item 389823	NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	COL5A1-related disorder +5 more	GBenign/Likely benign
Select item 381022	NM_000093.5(COL5A1):c.3744+19C>T	COL5A1	Single nucleotide variant (intron variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 380649	NM_000093.5(COL5A1):c.12T>C (p.His4=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 377729	NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=)	LOC101448202, COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign/Likely benign
Select item 377727	NM_000093.5(COL5A1):c.3528+14C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +2 more	GBenign/Likely benign
Select item 377726	NM_000093.5(COL5A1):c.2817C>T (p.Asp939=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 377725	NM_000093.5(COL5A1):c.2800-18C>T	COL5A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 377721	NM_000093.5(COL5A1):c.1774-7C>A	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign/Likely benign
Select item 373260	NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser)	COL5A1 (P908S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 365760	NM_000093.5(COL5A1):c.*733C>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign
Select item 365750	NM_000093.5(COL5A1):c.*311C>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 365748	NM_000093.5(COL5A1):c.*283G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 365746	NM_000093.5(COL5A1):c.*267C>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 365741	NM_000093.5(COL5A1):c.*83C>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 365731	NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln)	COL5A1, LOC101448202 (E1599Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +5 more	GBenign/Likely benign
Select item 365724	NM_000093.5(COL5A1):c.3906+15G>C	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
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 365701	NM_000093.5(COL5A1):c.-247T>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
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 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 283150	NM_000093.5(COL5A1):c.277+6T>G	COL5A1	Single nucleotide variant (intron variant)	COL5A1-related disorder +3 more	GBenign
Select item 264544	NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 264321	NM_000093.5(COL5A1):c.1333-3dup	COL5A1	Duplication (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 263994	NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=)	LOC101448202, COL5A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 255102	NM_000093.5(COL5A1):c.925-49A>G	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255101	NM_000093.5(COL5A1):c.925-43G>A	COL5A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 255100	NM_000093.5(COL5A1):c.787-42C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255096	NM_000093.5(COL5A1):c.5136+40A>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign/Likely benign
Select item 255094	NM_000093.5(COL5A1):c.4968C>T (p.Val1656=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 255093	NM_000093.5(COL5A1):c.4955-48G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign/Likely benign
Select item 255092	NM_000093.5(COL5A1):c.4955-28T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255089	NM_000093.5(COL5A1):c.4608+31T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255088	NM_000093.5(COL5A1):c.4447-45G>A	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255086	NM_000093.5(COL5A1):c.4176+48A>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign
Select item 255085	NM_000093.5(COL5A1):c.4176+35A>C	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign
Select item 255082	NM_000093.5(COL5A1):c.3745-37G>A	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255081	NM_000093.5(COL5A1):c.3528+46G>C	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255080	NM_000093.5(COL5A1):c.3528+43G>A	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255078	NM_000093.5(COL5A1):c.3475-42G>C	COL5A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 255077	NM_000093.5(COL5A1):c.3475-36A>C	COL5A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 255074	NM_000093.5(COL5A1):c.3006+17C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +2 more	GBenign/Likely benign
Select item 255073	NM_000093.5(COL5A1):c.2997C>T (p.Val999=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 255072	NM_000093.5(COL5A1):c.2845-37A>G	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255069	NM_000093.5(COL5A1):c.2701-22C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255068	NM_000093.5(COL5A1):c.2700+46C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign
Select item 255067	NM_000093.5(COL5A1):c.2646+27C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255066	NM_000093.5(COL5A1):c.2593-45G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign
Select item 255065	NM_000093.5(COL5A1):c.2593-15T>C	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +2 more	GBenign/Likely benign
Select item 255064	NM_000093.5(COL5A1):c.2592+16C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 255062	NM_000093.5(COL5A1):c.2431-25G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign
Select item 255061	NM_000093.5(COL5A1):c.2232+36C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255060	NM_000093.5(COL5A1):c.2034+24C>T	COL5A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 255059	NM_000093.5(COL5A1):c.1936-35C>A	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 255058	NM_000093.5(COL5A1):c.1936-21G>A	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255057	NM_000093.5(COL5A1):c.1827+45G>A	COL5A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 255056	NM_000093.5(COL5A1):c.1720-48T>C	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 255055	NM_000093.5(COL5A1):c.1720-47C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255054	NM_000093.5(COL5A1):c.1720-34C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255051	NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 255050	NM_000093.5(COL5A1):c.1432-24C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 255049	NM_000093.5(COL5A1):c.1332+46T>C	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type +4 more	GBenign
Select item 255048	NM_000093.5(COL5A1):c.1332+25C>T	COL5A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign

<< First< Prev

Page of 3