C4707243[trait identifier] AND "CHEO Genetics Diagnostic Laboratory, C - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 707467	NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu)	FOXE3, LINC01389 (P53L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 385608	NM_012186.3(FOXE3):c.234G>A (p.Ala78=)	LINC01389, FOXE3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 193357	NM_012186.3(FOXE3):c.510C>T (p.Ala170=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 468250	NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)	FOXE3, LINC01389 (G196A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 707004	NM_012186.3(FOXE3):c.601G>A (p.Val201Met)	FOXE3, LINC01389 (V201M)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 939305	NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg)	FOXE3, LINC01389 (G207R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 848730	NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser)	FOXE3, LINC01389 (P235S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +3 more	GUncertain significance
Select item 286610	NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly)	LINC01389, FOXE3 (S300G)	Single nucleotide variant (missense variant)	Congenital primary aphakia +5 more	GBenign/Likely benign
Select item 213833	NM_003238.6(TGFB2):c.-5A>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 1329097	NM_003238.6(TGFB2):c.11G>A (p.Cys4Tyr)	TGFB2 (C4Y)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 626565	NM_003238.6(TGFB2):c.98T>G (p.Met33Arg)	TGFB2 (M33R)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 213834	NM_003238.6(TGFB2):c.114G>A (p.Glu38=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 213839	NM_003238.6(TGFB2):c.199G>A (p.Val67Met)	TGFB2 (V67M)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome +4 more	GUncertain significance
Select item 213835	NM_003238.6(TGFB2):c.272G>A (p.Arg91His)	TGFB2 (R91H)	Single nucleotide variant (missense variant +1 more)	Holt-Oram syndrome +5 more	GBenign/Likely benign
Select item 626566	NM_003238.6(TGFB2):c.346+4_346+7del	TGFB2	Microsatellite (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 213840	NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)	TGFB2 (P119L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 1741047	NM_003238.6(TGFB2):c.450_451del (p.Arg150fs)	TGFB2 (R178fs +1 more)	Microsatellite (frameshift variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 509439	NM_003238.6(TGFB2):c.501G>A (p.Glu167=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4 +3 more	GBenign/Likely benign
Select item 510100	NM_003238.6(TGFB2):c.511-10del	TGFB2	Deletion (intron variant)	Loeys-Dietz syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 626567	NM_003238.6(TGFB2):c.511-6C>G	TGFB2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 915518	NM_003238.6(TGFB2):c.614_619del (p.Asp205_Ala206del)	TGFB2	Deletion (inframe_deletion +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 155837	NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)	TGFB2 (V207L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 139416	NM_003238.6(TGFB2):c.643+7A>C	TGFB2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 1329098	NM_003238.6(TGFB2):c.755-10T>C	TGFB2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 626568	NM_003238.6(TGFB2):c.775T>G (p.Tyr259Asp)	TGFB2 (Y259D +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 915519	NM_003238.6(TGFB2):c.778A>G (p.Thr260Ala)	TGFB2 (T288A +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2442941	NM_003238.6(TGFB2):c.784G>A (p.Gly262Ser)	TGFB2 (G262S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 213849	NM_003238.6(TGFB2):c.821dup (p.Asn274fs)	TGFB2 (N302fs +1 more)	Duplication (frameshift variant)	Loeys-Dietz syndrome 4 +3 more	GPathogenic/Likely pathogenic
Select item 2442942	NM_003238.6(TGFB2):c.817A>T (p.Lys273Ter)	TGFB2 (K273* +1 more)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 381708	NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln)	TGFB2 (R299Q +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome +3 more	GPathogenic/Likely pathogenic
Select item 408430	NM_003238.6(TGFB2):c.918G>A (p.Ala306=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 198159	NM_003238.6(TGFB2):c.933-8_933-6del	TGFB2	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign
Select item 1702286	NM_003238.6(TGFB2):c.988C>G (p.Leu330Val)	TGFB2 (L330V +1 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 408426	NM_003238.6(TGFB2):c.1140C>T (p.Cys380=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 915520	NM_003238.6(TGFB2):c.1196A>C (p.Lys399Thr)	TGFB2 (K427T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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

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