C0268335[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1164098	NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign
Select item 1255462	NM_000393.5(COL5A2):c.2661+20G>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GBenign/Likely benign
Select item 213077	NM_000393.5(COL5A2):c.2086-12del	COL5A2	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign
Select item 1164099	NM_000393.5(COL5A2):c.1311A>G (p.Pro437=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2 +3 more	GBenign
Select item 136971	NM_000393.5(COL5A2):c.852+14C>T	COL5A2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 136970	NM_000393.5(COL5A2):c.568-10G>A	COL5A2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 439539	NM_000393.5(COL5A2):c.315C>A (p.Thr105=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 254957	NM_000089.4(COL1A2):c.936+14C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GBenign
Select item 254958	NM_000089.4(COL1A2):c.937-3C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +10 more	GBenign
Select item 254952	NM_000089.4(COL1A2):c.1446A>C (p.Pro482=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta with normal sclerae, dominant form +9 more	GBenign
Select item 254953	NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)	COL1A2 (P549A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +11 more	GBenign
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 365701	NM_000093.5(COL5A1):c.-247T>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
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 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 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 212930	NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)	COL5A1 (P21S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +8 more	GBenign/Likely benign
Select item 255047	NM_000093.5(COL5A1):c.110-34C>T	COL5A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 212914	NM_000093.5(COL5A1):c.110-19T>C	COL5A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 213006	NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)	COL5A1 (R65W)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 more	GBenign/Likely benign
Select item 213007	NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)	COL5A1 (R65Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 195014	NM_000093.5(COL5A1):c.240C>T (p.Asp80=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +6 more	GBenign/Likely benign
Select item 136917	NM_000093.5(COL5A1):c.252C>T (p.Ser84=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +5 more	GBenign/Likely benign
Select item 283150	NM_000093.5(COL5A1):c.277+6T>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign
Select item 212916	NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)	COL5A1 (A93V)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +8 more	GBenign/Likely benign
Select item 212917	NM_000093.5(COL5A1):c.279G>A (p.Ala93=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 136918	NM_000093.5(COL5A1):c.378G>T (p.Gln126His)	COL5A1 (Q126H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 136919	NM_000093.5(COL5A1):c.573C>T (p.Leu191=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 136920	NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)	COL5A1 (D192N)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 136922	NM_000093.5(COL5A1):c.738C>T (p.Thr246=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 237008	NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu)	COL5A1 (S254L)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 255100	NM_000093.5(COL5A1):c.787-42C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign
Select item 255102	NM_000093.5(COL5A1):c.925-49A>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign
Select item 255101	NM_000093.5(COL5A1):c.925-43G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign
Select item 212924	NM_000093.5(COL5A1):c.996C>T (p.Asp332=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GBenign/Likely benign
Select item 136926	NM_000093.5(COL5A1):c.1062C>T (p.Asp354=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 212925	NM_000093.5(COL5A1):c.1077G>A (p.Glu359=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 136927	NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
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 212926	NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
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 212927	NM_000093.5(COL5A1):c.1281G>A (p.Pro427=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 212928	NM_000093.5(COL5A1):c.1293G>T (p.Gly431=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 255048	NM_000093.5(COL5A1):c.1332+25C>T	COL5A1	Single nucleotide variant (intron variant)	not provided +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 439524	NM_000093.5(COL5A1):c.1332+92C>G	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 264321	NM_000093.5(COL5A1):c.1333-3dup	COL5A1	Duplication (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 136929	NM_000093.5(COL5A1):c.1333-8A>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 212931	NM_000093.5(COL5A1):c.1390-18CT[3]	COL5A1	Microsatellite (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 136930	NM_000093.5(COL5A1):c.1431G>A (p.Ala477=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +6 more	GBenign
Select item 255050	NM_000093.5(COL5A1):c.1432-24C>T	COL5A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 136931	NM_000093.5(COL5A1):c.1432-5T>C	COL5A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 255051	NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1256656	NM_000093.5(COL5A1):c.1495-11C>A	COL5A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 136859	NM_000093.5(COL5A1):c.1539C>T (p.Pro513=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 136860	NM_000093.5(COL5A1):c.1566G>A (p.Leu522=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 136861	NM_000093.5(COL5A1):c.1569+15C>T	COL5A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 136862	NM_000093.5(COL5A1):c.1569+16A>G	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 439525	NM_000093.5(COL5A1):c.1570-59T>C	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 38863	NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)	COL5A1 (G530S)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 212884	NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
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)	not provided +3 more	GBenign
Select item 255054	NM_000093.5(COL5A1):c.1720-34C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign
Select item 377721	NM_000093.5(COL5A1):c.1774-7C>A	COL5A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 255057	NM_000093.5(COL5A1):c.1827+45G>A	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 136863	NM_000093.5(COL5A1):c.1935+8T>G	COL5A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 212885	NM_000093.5(COL5A1):c.1935+12C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 255059	NM_000093.5(COL5A1):c.1936-35C>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign
Select item 255058	NM_000093.5(COL5A1):c.1936-21G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type +4 more	GBenign
Select item 212886	NM_000093.5(COL5A1):c.1953C>T (p.Ser651=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 701246	NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)	COL5A1 (P656L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 212887	NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 212888	NM_000093.5(COL5A1):c.1998C>T (p.Asp666=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 212889	NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 255060	NM_000093.5(COL5A1):c.2034+24C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign/Likely benign
Select item 212890	NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 136864	NM_000093.5(COL5A1):c.2089-9C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 212891	NM_000093.5(COL5A1):c.2134-11G>C	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 255061	NM_000093.5(COL5A1):c.2232+36C>T	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 212892	NM_000093.5(COL5A1):c.2268C>T (p.Pro756=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 212893	NM_000093.5(COL5A1):c.2310T>A (p.Pro770=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +5 more	GBenign/Likely benign
Select item 212894	NM_000093.5(COL5A1):c.2386-7C>T	COL5A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 136866	NM_000093.5(COL5A1):c.2430+20C>T	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 255062	NM_000093.5(COL5A1):c.2431-25G>A	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 136867	NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 212896	NM_000093.5(COL5A1):c.2485-11C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
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 136868	NM_000093.5(COL5A1):c.2592+16C>G	COL5A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 255066	NM_000093.5(COL5A1):c.2593-45G>A	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 255065	NM_000093.5(COL5A1):c.2593-15T>C	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 255067	NM_000093.5(COL5A1):c.2646+27C>T	COL5A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 196728	NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)	COL5A1 (G899S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
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 255069	NM_000093.5(COL5A1):c.2701-22C>T	COL5A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 136869	NM_000093.5(COL5A1):c.2724G>A (p.Pro908=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 136870	NM_000093.5(COL5A1):c.2745+15A>T	COL5A1	Single nucleotide variant (intron variant)	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)	Ehlers-Danlos syndrome, classic type +4 more	GBenign/Likely benign
Select item 136871	NM_000093.5(COL5A1):c.2799+4T>C	COL5A1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign

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