"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439514	NM_000090.4(COL3A1):c.13G>A (p.Val5Met)	COL3A1 (V5M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 1365180	NM_000090.4(COL3A1):c.103C>A (p.Leu35Ile)	COL3A1 (L35I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 199689	NM_000090.4(COL3A1):c.114C>G (p.Ser38=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 1329347	NM_000090.4(COL3A1):c.258A>T (p.Ala86=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GConflicting classifications of pathogenicity
Select item 263835	NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)	COL3A1 (P89L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2442937	NM_000090.4(COL3A1):c.319C>A (p.Pro107Thr)	COL3A1 (P107T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2442938	NM_000090.4(COL3A1):c.329A>T (p.Asp110Val)	COL3A1 (D110V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 333049	NM_000090.4(COL3A1):c.432C>T (p.Cys144=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 449237	NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)	COL3A1 (Y158N)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 161216	NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)	COL3A1 (L169F)	Single nucleotide variant (missense variant)	Aortic aneurysm +5 more	GConflicting classifications of pathogenicity
Select item 1329349	NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser)	COL3A1 (G171S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 380408	NM_000090.4(COL3A1):c.546C>T (p.Pro182=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 136841	NM_000090.4(COL3A1):c.583-8C>T	COL3A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 35965	NM_000090.4(COL3A1):c.696A>G (p.Glu232=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 519603	NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)	COL3A1 (R238*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 17208	NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 529337	NM_000090.4(COL3A1):c.799-6del	COL3A1	Deletion (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 161215	NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)	COL3A1 (R271Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +6 more	GBenign/Likely benign
Select item 449862	NM_000090.4(COL3A1):c.873C>T (p.Gly291=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 333052	NM_000090.4(COL3A1):c.898-5T>C	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 626569	NM_000090.4(COL3A1):c.989G>A (p.Gly330Asp)	COL3A1 (G330D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 199715	NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)	COL3A1 (G342R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 263816	NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser)	COL3A1 (P386S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 450335	NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +3 more	GConflicting classifications of pathogenicity
Select item 923322	NM_000090.4(COL3A1):c.1200C>T (p.Pro400=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 136843	NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 101452	NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GPathogenic/Likely pathogenic
Select item 618578	NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser)	COL3A1 (G429S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2138973	NM_000090.4(COL3A1):c.1345C>T (p.Arg449Cys)	COL3A1 (R449C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 199694	NM_000090.4(COL3A1):c.1348-4del	COL3A1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 199695	NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)	COL3A1 (A475V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 915704	NM_000090.4(COL3A1):c.1437A>G (p.Pro479=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 507491	NM_000090.4(COL3A1):c.1524G>A (p.Glu508=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 387033	NM_000090.4(COL3A1):c.1617C>T (p.Pro539=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 199696	NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 136845	NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)	COL3A1 (P602T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 195847	NM_000090.4(COL3A1):c.1815+5G>A	COL3A1	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 919114	NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala)	COL3A1 (P607A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 136849	NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 136850	NM_000090.4(COL3A1):c.1977+9C>T	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign
Select item 199727	NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)	COL3A1 (P668S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 199726	NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)	COL3A1 (P668T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 199697	NM_000090.4(COL3A1):c.2022+5T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
Select item 35964	NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)	COL3A1 (A679T)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 199698	NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala)	COL3A1 (P686A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 2691158	NM_000090.4(COL3A1):c.2125G>A (p.Ala709Thr)	COL3A1 (A709T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 1788109	NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)	COL3A1 (G744C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 626570	NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser)	COL3A1 (P763S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 915705	NM_000090.4(COL3A1):c.2298T>G (p.Pro766=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 377718	NM_000090.4(COL3A1):c.2445T>G (p.Pro815=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1329346	NM_000090.4(COL3A1):c.2506G>A (p.Gly836Arg)	COL3A1 (G836R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 199702	NM_000090.4(COL3A1):c.2700C>T (p.Gly900=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
Select item 333063	NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)	COL3A1 (A908V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 263809	NM_000090.4(COL3A1):c.2802G>A (p.Ser934=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 915755	NM_000090.3(COL3A1):c.2933del	COL3A1	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 626858	NM_000090.4(COL3A1):c.2973A>G (p.Glu991=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 199737	NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)	COL3A1 (L1021I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 626859	NM_000090.4(COL3A1):c.3093+1G>T	COL3A1	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 626860	NM_000090.4(COL3A1):c.3117T>C (p.Ser1039=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 197477	NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)	COL3A1 (A1045T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GConflicting classifications of pathogenicity
Select item 915756	NM_000090.4(COL3A1):c.3255+10G>A	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 922907	NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)	COL3A1 (R1100H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GConflicting classifications of pathogenicity
Select item 333065	NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 404306	NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu)	COL3A1 (P1138L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 391619	NM_000090.4(COL3A1):c.3440C>T (p.Pro1147Leu)	COL3A1 (P1147L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 860757	NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln)	COL3A1 (R1166Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2691159	NM_000090.4(COL3A1):c.3525+10C>G	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 547273	NM_000090.4(COL3A1):c.3526-10C>T	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 136856	NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val)	COL3A1 (I1205V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 136857	NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 199706	NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 390515	NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 626861	NM_000090.4(COL3A1):c.3757G>A (p.Gly1253Ser)	COL3A1 (G1253S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 199744	NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)	COL3A1 (K1273R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 161218	NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)	COL3A1 (K1313R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GConflicting classifications of pathogenicity
Select item 333069	NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly)	COL3A1 (D1333G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 459791	NM_000090.4(COL3A1):c.4075C>A (p.Leu1359Ile)	COL3A1 (L1359I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 626862	NM_000090.4(COL3A1):c.4229A>C (p.Tyr1410Ser)	COL3A1 (Y1410S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 263882	NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys)	COL3A1 (R1434C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1004599	NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro)	COL3A1 (A1436P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 915757	NM_000090.4(COL3A1):c.4384C>T (p.Pro1462Ser)	COL3A1 (P1462S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1329348	NM_000090.4:c.-46_4368del	COL3A1	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic

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Items: 82