"PreventionGenetics, part of Exact Sciences"[submitter] AND "COL3A1"[g - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136840	NM_000090.4(COL3A1):c.80-16C>T	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 752300	NM_000090.4(COL3A1):c.80-8T>C	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 199689	NM_000090.4(COL3A1):c.114C>G (p.Ser38=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 2633032	NM_000090.4(COL3A1):c.126A>C (p.Arg42Ser)	COL3A1 (R42S)	Single nucleotide variant (missense variant)	COL3A1-related disorder	GUncertain significance
Select item 254961	NM_000090.4(COL3A1):c.219C>T (p.Asp73=)	COL3A1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 924477	NM_000090.4(COL3A1):c.235A>G (p.Ile79Val)	COL3A1 (I79V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 254966	NM_000090.4(COL3A1):c.283-45G>T	COL3A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 +3 more	GLikely benign
Select item 449237	NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)	COL3A1 (Y158N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +4 more	GUncertain significance
Select item 199711	NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)	COL3A1 (T187I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 254972	NM_000090.4(COL3A1):c.582+12C>T	COL3A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 136841	NM_000090.4(COL3A1):c.583-8C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +3 more	GBenign
Select item 101469	NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)	COL3A1	Single nucleotide variant (missense variant)	COL3A1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 254973	NM_000090.4(COL3A1):c.708C>G (p.Pro236=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 101307	NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp)	COL3A1	Single nucleotide variant (missense variant)	COL3A1-related disorder +1 more	GPathogenic
Select item 922911	NM_000090.4(COL3A1):c.874G>A (p.Glu292Lys)	COL3A1 (E292K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 845220	NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser)	COL3A1 (P305S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 254959	NM_000090.4(COL3A1):c.1050+43G>T	COL3A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 459757	NM_000090.4(COL3A1):c.1128C>T (p.His376=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 529323	NM_000090.4(COL3A1):c.1129G>A (p.Ala377Thr)	COL3A1 (A377T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 199718	NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)	COL3A1 (N389Y)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 136843	NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 35961	NM_000090.4(COL3A1):c.1293+15T>A	COL3A1	Single nucleotide variant (intron variant)	Familial aortopathy +2 more	GBenign
Select item 17202	NM_000090.4(COL3A1):c.1347+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	COL3A1-related disorder +3 more	GPathogenic
Select item 3058491	NM_000090.4(COL3A1):c.1392T>C (p.Asp464=)	COL3A1	Single nucleotide variant (synonymous variant)	COL3A1-related disorder	GLikely benign
Select item 704925	NM_000090.4(COL3A1):c.1473A>C (p.Arg491=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GLikely benign
Select item 263861	NM_000090.4(COL3A1):c.1476A>C (p.Gly492=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 925292	NM_000090.4(COL3A1):c.1513C>T (p.Pro505Ser)	COL3A1 (P505S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 161217	NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)	COL3A1 (P517L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2632145	NM_000090.4(COL3A1):c.1609-5_1615del	COL3A1	Deletion (splice acceptor variant)	COL3A1-related disorder	GLikely pathogenic
Select item 199696	NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 333055	NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu)	COL3A1 (P566L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 1096596	NM_000090.4(COL3A1):c.1743C>T (p.Pro581=)	COL3A1	Single nucleotide variant (synonymous variant)	COL3A1-related disorder +2 more	GLikely benign
Select item 17225	NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)	COL3A1	Single nucleotide variant (missense variant)	COL3A1-related disorder +2 more	GPathogenic
Select item 546885	NM_000090.4(COL3A1):c.1758T>C (p.Asn586=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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)	not provided +4 more	GBenign/Likely benign
Select item 136846	NM_000090.4(COL3A1):c.1815+18A>G	COL3A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 35963	NM_000090.4(COL3A1):c.1816-19T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +3 more	GBenign/Likely benign
Select item 136847	NM_000090.4(COL3A1):c.1816-14G>C	COL3A1	Single nucleotide variant (intron variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +3 more	GBenign
Select item 699016	NM_000090.4(COL3A1):c.1816-4T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +5 more	GConflicting classifications of pathogenicity
Select item 2636926	NM_000090.4(COL3A1):c.1817G>A (p.Gly606Asp)	COL3A1 (G606D)	Single nucleotide variant (missense variant)	COL3A1-related disorder	GLikely pathogenic
Select item 136848	NM_000090.4(COL3A1):c.1851G>A (p.Gln617=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +4 more	GBenign
Select item 101314	NM_000090.4(COL3A1):c.1869+1G>C	COL3A1	Single nucleotide variant (splice donor variant)	COL3A1-related disorder +1 more	GPathogenic
Select item 180297	NM_000090.4(COL3A1):c.1869+6T>G	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 136849	NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +4 more	GBenign/Likely benign
Select item 254960	NM_000090.4(COL3A1):c.1977+10G>A	COL3A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 136851	NM_000090.4(COL3A1):c.1978-11C>T	COL3A1	Single nucleotide variant (intron variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +3 more	GBenign
Select item 199726	NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)	COL3A1 (P668T)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +5 more	GConflicting classifications of pathogenicity
Select item 199697	NM_000090.4(COL3A1):c.2022+5T>C	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 35964	NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)	COL3A1 (A679T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +6 more	GBenign/Likely benign
Select item 2635449	NM_000090.4(COL3A1):c.2057C>A (p.Pro686His)	COL3A1 (P686H)	Single nucleotide variant (missense variant)	COL3A1-related disorder	GUncertain significance
Select item 2634004	NM_000090.4(COL3A1):c.2092_2097delinsACTGG (p.Ala698fs)	COL3A1 (A698fs)	Indel (frameshift variant)	COL3A1-related disorder	GLikely pathogenic
Select item 17205	NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)	COL3A1 (A698T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +5 more	GBenign
Select item 136853	NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +4 more	GBenign
Select item 254962	NM_000090.4(COL3A1):c.2337+23T>A	COL3A1	Single nucleotide variant (intron variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +3 more	GBenign
Select item 519600	NM_000090.4(COL3A1):c.2355C>G (p.Pro785=)	LOC126806446, COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 254963	NM_000090.4(COL3A1):c.2391+28del	COL3A1, LOC126806446	Deletion (intron variant)	not provided +1 more	GBenign
Select item 254964	NM_000090.4(COL3A1):c.2608-50C>T	COL3A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 254965	NM_000090.4(COL3A1):c.2661+22T>A	COL3A1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 199702	NM_000090.4(COL3A1):c.2700C>T (p.Gly900=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 136854	NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +6 more	GConflicting classifications of pathogenicity
Select item 439515	NM_000090.4(COL3A1):c.2862A>T (p.Gly954=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GLikely benign
Select item 1172341	NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser)	COL3A1 (R992S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 136855	NM_000090.4(COL3A1):c.3039+16T>G	COL3A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 199737	NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)	COL3A1 (L1021I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 2633630	NM_000090.4(COL3A1):c.3144T>A (p.His1048Gln)	COL3A1 (H1048Q)	Single nucleotide variant (missense variant)	COL3A1-related disorder	GUncertain significance
Select item 254968	NM_000090.4(COL3A1):c.3202-40G>A	COL3A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 254967	NM_000090.4(COL3A1):c.3202-36C>T	COL3A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 254969	NM_000090.4(COL3A1):c.3256-28G>A	COL3A1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 412897	NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 101484	NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg)	COL3A1	Single nucleotide variant (missense variant)	COL3A1-related disorder +1 more	GLikely pathogenic
Select item 199705	NM_000090.4(COL3A1):c.3525+19del	COL3A1	Deletion (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 495545	NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=)	COL3A1	Single nucleotide variant (synonymous variant)	COL3A1-related disorder +3 more	GBenign/Likely benign
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 136857	NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 199706	NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GBenign
Select item 921592	NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys)	COL3A1 (R1255C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 412899	NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 254970	NM_000090.4(COL3A1):c.3824-31C>A	COL3A1	Single nucleotide variant (intron variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +3 more	GBenign
Select item 1310228	NM_000090.4(COL3A1):c.3928G>A (p.Val1310Ile)	COL3A1 (V1310I)	Single nucleotide variant (missense variant)	COL3A1-related disorder +2 more	GUncertain significance
Select item 519617	NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu)	COL3A1 (K1313E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 254971	NM_000090.4(COL3A1):c.4011+34A>G	COL3A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 529338	NM_000090.4(COL3A1):c.4332T>C (p.Ile1444=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 459793	NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 3061691	NM_000090.4(COL3A1):c.4352G>A (p.Gly1451Asp)	COL3A1 (G1451D)	Single nucleotide variant (missense variant)	COL3A1-related disorder	GUncertain significance

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Items: 86