"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "COL3A1"[ge - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1400615	NM_000090.4(COL3A1):c.14T>A (p.Val5Glu)	COL3A1 (V5E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1080547	NM_000090.4(COL3A1):c.24G>A (p.Gly8=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 333049	NM_000090.4(COL3A1):c.432C>T (p.Cys144=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +3 more	GLikely benign
Select item 161216	NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)	COL3A1 (L169F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +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)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 263523	NM_000090.4(COL3A1):c.528+5G>A	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 380408	NM_000090.4(COL3A1):c.546C>T (p.Pro182=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 493305	NM_000090.4(COL3A1):c.584G>T (p.Gly195Val)	COL3A1 (G195V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 161215	NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)	COL3A1 (R271Q)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 264567	NM_000090.4(COL3A1):c.897+4A>G	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1013190	NM_000090.4(COL3A1):c.1011T>A (p.Pro337=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 199715	NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)	COL3A1 (G342R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +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	GUncertain significance
Select item 450335	NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 872591	NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln)	COL3A1 (R428Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3026611	NM_000090.4(COL3A1):c.1347C>A (p.Arg449=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2586763	NM_000090.4(COL3A1):c.1386C>T (p.Gly462=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 872592	NM_000090.4(COL3A1):c.1457G>T (p.Gly486Val)	COL3A1 (G486V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 381913	NM_000090.4(COL3A1):c.1461C>T (p.Ala487=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 161217	NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)	COL3A1 (P517L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 101269	NM_000090.4(COL3A1):c.1662+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 17225	NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)	COL3A1	Single nucleotide variant (missense variant)	COL3A1-related condition +2 more	GPathogenic
Select item 546885	NM_000090.4(COL3A1):c.1758T>C (p.Asn586=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 628468	NM_000090.4(COL3A1):c.1787G>A (p.Arg596Gln)	COL3A1 (R596Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
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 2498858	NM_000090.4(COL3A1):c.1826G>A (p.Gly609Glu)	COL3A1 (G609E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 507052	NM_000090.4(COL3A1):c.1995C>T (p.Ala665=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +5 more	GConflicting classifications of pathogenicity
Select item 35964	NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)	COL3A1 (A679T)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 199729	NM_000090.4(COL3A1):c.2338-2A>G	COL3A1, LOC126806446	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 17200	NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)	COL3A1, LOC126806446	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 647884	NM_000090.4(COL3A1):c.2522T>C (p.Val841Ala)	COL3A1 (V841A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 2672854	NM_000090.4(COL3A1):c.2524G>A (p.Ala842Thr)	COL3A1 (A842T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 199702	NM_000090.4(COL3A1):c.2700C>T (p.Gly900=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +5 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 136854	NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +6 more	GConflicting classifications of pathogenicity
Select item 579574	NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln)	COL3A1 (P940Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1711521	NM_000090.4(COL3A1):c.2887G>A (p.Gly963Ser)	COL3A1 (G963S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 333064	NM_000090.4(COL3A1):c.2958C>T (p.Asn986=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GBenign/Likely benign
Select item 199736	NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr)	COL3A1 (A1007T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 444545	NM_000090.4(COL3A1):c.3049G>A (p.Gly1017Arg)	COL3A1 (G1017R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 809117	NM_000090.4(COL3A1):c.3093+3A>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 919849	NM_000090.4(COL3A1):c.3207T>G (p.Pro1069=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GLikely benign
Select item 459786	NM_000090.4(COL3A1):c.3345A>G (p.Pro1115=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 424386	NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg)	COL3A1 (S1154R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 809118	NM_000090.4(COL3A1):c.3510T>C (p.Gly1170=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872593	NM_000090.4(COL3A1):c.3527G>T (p.Gly1176Val)	COL3A1 (G1176V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 495545	NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 333066	NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 439517	NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)	COL3A1 (A1203T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 136857	NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 388961	NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 923240	NM_000090.4(COL3A1):c.3687C>T (p.Ile1229=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 390515	NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 263324	NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 263935	NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln)	COL3A1 (K1313Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 161218	NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)	COL3A1 (K1313R)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity
Select item 199746	NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)	COL3A1 (G1341S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 2885677	NM_000090.4(COL3A1):c.4047C>T (p.Val1349=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 1701405	NM_000090.4(COL3A1):c.4080C>T (p.Leu1360=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 624166	NM_000090.4(COL3A1):c.4358A>T (p.Asp1453Val)	COL3A1 (D1453V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 65