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

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213087	NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)	COL5A2 (V1499L)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity
Select item 136959	NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 136958	NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +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 +7 more	GBenign/Likely benign
Select item 1702230	NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp)	COL5A2 (R1442W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 213128	NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)	COL5A2 (D1432V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 213127	NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)	COL5A2 (D1414N)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 213125	NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)	COL5A2 (D1356G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GConflicting classifications of pathogenicity
Select item 1702229	NM_000393.5(COL5A2):c.3950A>G (p.Gln1317Arg)	COL5A2 (Q1317R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 408280	NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu)	COL5A2 (Q1307E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 136955	NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 180305	NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)	COL5A2 (D1265G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GConflicting classifications of pathogenicity
Select item 136952	NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)	COL5A2 (T1230R)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 1702228	NM_000393.5(COL5A2):c.3601G>A (p.Val1201Ile)	COL5A2 (V1201I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 426754	NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro)	COL5A2 (Q1141P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 577774	NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala)	COL5A2 (T1057A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 136949	NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)	COL5A2 (P1033L)	Single nucleotide variant (missense variant)	not specified +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, classic type, 1 +4 more	GLikely benign
Select item 213111	NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys)	COL5A2 (R952C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 136946	NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 136944	NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)	COL5A2 (P833L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 1702227	NM_000393.5(COL5A2):c.2446-35_2446-9del	COL5A2	Deletion (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 213106	NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)	COL5A2 (P764R)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 more	GConflicting classifications of pathogenicity
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 180303	NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)	COL5A2 (P671S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 459731	NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr)	COL5A2 (P670T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 704416	NM_000393.5(COL5A2):c.1995A>G (p.Arg665=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 155777	NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)	COL5A2 (P659L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GConflicting classifications of pathogenicity
Select item 1470109	NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val)	COL5A2 (A592V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
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 642815	NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln)	COL5A2 (R572Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 213099	NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)	COL5A2 (R545W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1677574	NM_000393.5(COL5A2):c.1580G>A (p.Arg527His)	COL5A2 (R527H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1096907	NM_000393.5(COL5A2):c.1564-8A>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 136941	NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)	COL5A2 (V512A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 636428	NM_000393.5(COL5A2):c.1458G>A (p.Gly486=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 136939	NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)	COL5A2 (P460S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GBenign/Likely benign
Select item 212979	NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)	COL5A2 (T434M)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 more	GBenign/Likely benign
Select item 1702225	NM_000393.5(COL5A2):c.1246C>G (p.Pro416Ala)	COL5A2 (P416A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 136935	NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)	COL5A2 (M361L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 136933	NM_000393.5(COL5A2):c.1006-9C>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 136932	NM_000393.5(COL5A2):c.975C>T (p.Pro325=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 285912	NM_000393.5(COL5A2):c.961-3del	COL5A2	Deletion (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 333147	NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)	COL5A2 (P284L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +5 more	GConflicting classifications of pathogenicity
Select item 993416	NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu)	COL5A2 (P250L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1702232	NM_000393.5(COL5A2):c.697G>A (p.Ala233Thr)	COL5A2 (A233T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 213161	NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln)	COL5A2 (R146Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1619807	NM_000393.5(COL5A2):c.429A>G (p.Arg143=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 256003	NM_000393.5(COL5A2):c.403-3T>C	COL5A2	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
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 136963	NM_000393.5(COL5A2):c.261G>A (p.Thr87=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 136961	NM_000393.5(COL5A2):c.198T>C (p.Asn66=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 379901	NM_000393.5(COL5A2):c.186T>C (p.Cys62=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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

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Items: 55