"PreventionGenetics, part of Exact Sciences"[submitter] AND "COL5A2"[g - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255994	NM_000393.5(COL5A2):c.*19G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1139272	NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=)	COL5A2	Single nucleotide variant (synonymous variant)	COL5A2-related condition +3 more	GLikely benign
Select item 213086	NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)	COL5A2 (G1484S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GConflicting classifications of pathogenicity
Select item 136959	NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 136958	NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 136957	NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GBenign/Likely benign
Select item 513408	NM_000393.5(COL5A2):c.4383C>G (p.Val1461=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 213128	NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)	COL5A2 (D1432V)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 213127	NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)	COL5A2 (D1414N)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 213084	NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GConflicting classifications of pathogenicity
Select item 256004	NM_000393.5(COL5A2):c.4113+47C>T	COL5A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 213125	NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)	COL5A2 (D1356G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +6 more	GConflicting classifications of pathogenicity
Select item 3030787	NM_000393.5(COL5A2):c.4062T>C (p.Ser1354=)	COL5A2	Single nucleotide variant (synonymous variant)	COL5A2-related condition	GLikely benign
Select item 256002	NM_000393.5(COL5A2):c.3891T>C (p.Asp1297=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 459748	NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val)	COL5A2 (A1293V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 256001	NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 1093020	NM_000393.5(COL5A2):c.3768G>A (p.Ala1256=)	COL5A2	Single nucleotide variant (synonymous variant)	COL5A2-related condition +2 more	GLikely benign
Select item 136954	NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 136953	NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 136952	NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)	COL5A2 (T1230R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 155778	NM_000393.5(COL5A2):c.3471+8A>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GConflicting classifications of pathogenicity
Select item 255999	NM_000393.5(COL5A2):c.3201+14C>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome type 7A +3 more	GConflicting classifications of pathogenicity
Select item 136949	NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)	COL5A2 (P1033L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 377736	NM_000393.5(COL5A2):c.2895A>G (p.Pro965=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +5 more	GLikely benign
Select item 2042697	NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)	COL5A2 (R956Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 136948	NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)	COL5A2 (R956P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 529265	NM_000393.5(COL5A2):c.2855G>A (p.Arg952His)	COL5A2 (R952H)	Single nucleotide variant (missense variant)	COL5A2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 197452	NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 237774	NM_000393.5(COL5A2):c.2770-5A>G	COL5A2	Single nucleotide variant (intron variant)	COL5A2-related condition +3 more	GBenign/Likely benign
Select item 511712	NM_000393.5(COL5A2):c.2770-6T>C	COL5A2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 213081	NM_000393.5(COL5A2):c.2770-15del	COL5A2	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 213080	NM_000393.5(COL5A2):c.2769+19A>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 1163238	NM_000393.5(COL5A2):c.2742G>A (p.Ala914=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 213079	NM_000393.5(COL5A2):c.2716-4C>T	COL5A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 136947	NM_000393.5(COL5A2):c.2661+20G>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign
Select item 136946	NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)	COL5A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +7 more	GBenign/Likely benign
Select item 136945	NM_000393.5(COL5A2):c.2554-14A>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 136944	NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)	COL5A2 (P833L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 255998	NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala)	COL5A2 (G831A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 459738	NM_000393.5(COL5A2):c.2424G>A (p.Pro808=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 213150	NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser)	COL5A2 (L803S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 196936	NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 213078	NM_000393.5(COL5A2):c.2338-6T>C	COL5A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 213106	NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)	COL5A2 (P764R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +7 more	GConflicting classifications of pathogenicity
Select item 213104	NM_000393.5(COL5A2):c.2230-16T>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 136943	NM_000393.5(COL5A2):c.2032-7G>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GBenign/Likely benign
Select item 255997	NM_000393.5(COL5A2):c.2032-39A>T	COL5A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 155777	NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)	COL5A2 (P659L)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 more	GConflicting classifications of pathogenicity
Select item 3038339	NM_000393.5(COL5A2):c.1879G>A (p.Gly627Arg)	COL5A2 (G627R)	Single nucleotide variant (missense variant)	COL5A2-related condition	GUncertain significance
Select item 965835	NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser)	COL5A2 (P589S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 255996	NM_000393.5(COL5A2):c.1716+12G>A	COL5A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 213145	NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg)	COL5A2 (G567R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 136942	NM_000393.5(COL5A2):c.1618-19C>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 2630805	NM_000393.5(COL5A2):c.1563+2T>G	COL5A2	Single nucleotide variant (splice donor variant)	COL5A2-related condition	GLikely pathogenic
Select item 136941	NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)	COL5A2 (V512A)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 195650	NM_000393.5(COL5A2):c.1455+6G>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 1077874	NM_000393.5(COL5A2):c.1433A>T (p.Glu478Val)	COL5A2 (E478V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 136940	NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu)	COL5A2 (P467L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 136939	NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)	COL5A2 (P460S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 213094	NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)	COL5A2 (K431R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 255995	NM_000393.5(COL5A2):c.1105-3T>C	COL5A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 136936	NM_000393.5(COL5A2):c.1104+15T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 136935	NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)	COL5A2 (M361L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 3057792	NM_000393.5(COL5A2):c.1060-4T>A	COL5A2	Single nucleotide variant (intron variant)	COL5A2-related condition	GLikely benign
Select item 529292	NM_000393.5(COL5A2):c.1059+9A>G	COL5A2	Single nucleotide variant (intron variant)	COL5A2-related condition +1 more	GLikely benign
Select item 1017239	NM_000393.5(COL5A2):c.1040T>A (p.Leu347His)	COL5A2 (L347H)	Single nucleotide variant (missense variant)	COL5A2-related condition +1 more	GUncertain significance
Select item 136933	NM_000393.5(COL5A2):c.1006-9C>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 136932	NM_000393.5(COL5A2):c.975C>T (p.Pro325=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 1767674	NM_000393.5(COL5A2):c.964G>A (p.Glu322Lys)	COL5A2 (E322K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 256007	NM_000393.5(COL5A2):c.961-14T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 256006	NM_000393.5(COL5A2):c.907-5C>A	COL5A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 256005	NM_000393.5(COL5A2):c.906+14A>G	COL5A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 698570	NM_000393.5(COL5A2):c.906+9A>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 289442	NM_000393.5(COL5A2):c.870T>C (p.Pro290=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 136971	NM_000393.5(COL5A2):c.852+14C>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 237779	NM_000393.5(COL5A2):c.750G>A (p.Pro250=)	COL5A2	Single nucleotide variant (synonymous variant)	COL5A2-related condition +3 more	GBenign/Likely benign
Select item 459754	NM_000393.5(COL5A2):c.570G>A (p.Pro190=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 136970	NM_000393.5(COL5A2):c.568-10G>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 2 +4 more	GBenign/Likely benign
Select item 256003	NM_000393.5(COL5A2):c.403-3T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 2 +6 more	GConflicting classifications of pathogenicity
Select item 136969	NM_000393.5(COL5A2):c.403-16T>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign
Select item 213140	NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser)	COL5A2 (G126S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 136968	NM_000393.5(COL5A2):c.370-16C>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 256000	NM_000393.5(COL5A2):c.337-26T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign
Select item 136965	NM_000393.5(COL5A2):c.322+8T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +6 more	GConflicting classifications of pathogenicity
Select item 519681	NM_000393.5(COL5A2):c.288T>C (p.Cys96=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 519674	NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn)	COL5A2 (D84N)	Single nucleotide variant (missense variant)	COL5A2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 136962	NM_000393.5(COL5A2):c.249C>T (p.Ala83=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1309117	NM_000393.5(COL5A2):c.233A>T (p.Asp78Val)	COL5A2 (D78V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 2633737	NM_000393.5(COL5A2):c.208C>T (p.Leu70Phe)	COL5A2 (L70F)	Single nucleotide variant (missense variant)	COL5A2-related condition	GUncertain significance
Select item 136961	NM_000393.5(COL5A2):c.198T>C (p.Asn66=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 2628905	NM_000393.5(COL5A2):c.167C>T (p.Pro56Leu)	COL5A2 (P56L)	Single nucleotide variant (missense variant)	COL5A2-related condition	GUncertain significance
Select item 213133	NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys)	COL5A2 (W54C)	Single nucleotide variant (missense variant)	COL5A2-related condition +2 more	GUncertain significance
Select item 136960	NM_000393.5(COL5A2):c.98-12T>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 213090	NM_000393.5(COL5A2):c.75A>G (p.Lys25=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome type 7A +5 more	GConflicting classifications of pathogenicity
Select item 213089	NM_000393.5(COL5A2):c.33C>T (p.Leu11=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 3048315	NM_000393.5(COL5A2):c.-5del	COL5A2	Deletion (5 prime UTR variant)	COL5A2-related condition	GLikely benign
Select item 3048933	NM_000393.5(COL5A2):c.-10dup	COL5A2	Duplication (5 prime UTR variant)	COL5A2-related condition	GLikely benign

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Items: 97