"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 263844	NM_000090.4(COL3A1):c.217G>C (p.Asp73His)	COL3A1 (D73H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 254961	NM_000090.4(COL3A1):c.219C>T (p.Asp73=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 161216	NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)	COL3A1 (L169F)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 263946	NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser)	COL3A1 (Y172S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GConflicting classifications of pathogenicity
Select item 1702201	NM_000090.4(COL3A1):c.529-10C>A	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 101206	NM_000090.4(COL3A1):c.582+1G>C	COL3A1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 199712	NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro)	COL3A1 (S196P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 35965	NM_000090.4(COL3A1):c.696A>G (p.Glu232=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +3 more	GLikely benign
Select item 529313	NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys)	COL3A1 (E241K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GLikely pathogenic
Select item 1306170	NM_000090.4(COL3A1):c.724C>G (p.Arg242Gly)	COL3A1 (R242G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 529337	NM_000090.4(COL3A1):c.799-6del	COL3A1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +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 +6 more	GBenign/Likely benign
Select item 1702202	NM_000090.4(COL3A1):c.971G>T (p.Gly324Val)	COL3A1 (G324V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 459756	NM_000090.4(COL3A1):c.1050+6C>T	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1702520	NM_000090.4(COL3A1):c.1194+5G>C	COL3A1	Single nucleotide variant (intron variant)	Connective tissue disorder	GUncertain significance
Select item 136843	NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GBenign
Select item 923370	NM_000090.4(COL3A1):c.1329C>T (p.Pro443=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 449788	NM_000090.4(COL3A1):c.1342G>A (p.Glu448Lys)	COL3A1 (E448K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 333054	NM_000090.4(COL3A1):c.1509+7A>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +2 more	GBenign
Select item 199696	NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +4 more	GBenign/Likely benign
Select item 136844	NM_000090.4(COL3A1):c.1770T>C (p.Pro590=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +4 more	GBenign
Select item 136845	NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)	COL3A1 (P602T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 195847	NM_000090.4(COL3A1):c.1815+5G>A	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 699016	NM_000090.4(COL3A1):c.1816-4T>C	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 377717	NM_000090.4(COL3A1):c.1854A>T (p.Gly618=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 136849	NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 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)	not provided +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 1072145	NM_000090.4(COL3A1):c.2044G>A (p.Glu682Lys)	COL3A1 (E682K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic
Select item 17205	NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)	COL3A1 (A698T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign
Select item 101346	NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1702196	NM_000090.4(COL3A1):c.2122G>A (p.Gly708Ser)	COL3A1 (G708S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 333060	NM_000090.4(COL3A1):c.2493T>C (p.Gly831=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 136854	NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 1702197	NM_000090.4(COL3A1):c.2815G>C (p.Gly939Arg)	COL3A1 (G939R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 197477	NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)	COL3A1 (A1045T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 385170	NM_000090.4(COL3A1):c.3201+8C>A	COL3A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 199742	NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)	COL3A1 (R1109G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 1702198	NM_000090.4(COL3A1):c.3458C>G (p.Thr1153Ser)	COL3A1 (T1153S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 860757	NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln)	COL3A1 (R1166Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +4 more	GUncertain significance
Select item 511732	NM_000090.4(COL3A1):c.3505A>C (p.Arg1169=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 547273	NM_000090.4(COL3A1):c.3526-10C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +4 more	GConflicting classifications of pathogenicity
Select item 1557157	NM_000090.4(COL3A1):c.3606C>T (p.Ala1202=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 136856	NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val)	COL3A1 (I1205V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GBenign
Select item 529324	NM_000090.4(COL3A1):c.3629G>A (p.Gly1210Asp)	COL3A1 (G1210D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 199706	NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 626861	NM_000090.4(COL3A1):c.3757G>A (p.Gly1253Ser)	COL3A1 (G1253S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 263324	NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +3 more	GBenign/Likely benign
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 333068	NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1702199	NM_000090.4(COL3A1):c.4049T>C (p.Leu1350Pro)	COL3A1 (L1350P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702200	NM_000090.4(COL3A1):c.4255-8T>A	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance

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Items: 56