"GeneDx"[submitter] AND "COL3A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 669800	NM_000090.3(COL3A1):c.-416A>G	COL3A1	Single nucleotide variant	not provided	GLikely benign
Select item 333045	NM_000090.4(COL3A1):c.-80G>A	COL3A1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 439514	NM_000090.4(COL3A1):c.13G>A (p.Val5Met)	COL3A1 (V5M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 386330	NM_000090.4(COL3A1):c.18A>G (p.Gln6=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 1310978	NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu)	COL3A1 (G8E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 1303008	NM_000090.4(COL3A1):c.38T>C (p.Leu13Pro)	COL3A1 (L13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 919615	NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr)	COL3A1 (A14T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 675437	NM_000090.4(COL3A1):c.79+204T>C	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291463	NM_000090.4(COL3A1):c.80-156A>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215284	NM_000090.4(COL3A1):c.80-152_80-130dup	COL3A1	Duplication (intron variant)	not provided	GLikely benign
Select item 1196970	NM_000090.4(COL3A1):c.80-131T>C	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676605	NM_000090.4(COL3A1):c.80-69A>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676606	NM_000090.4(COL3A1):c.80-21G>A	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136840	NM_000090.4(COL3A1):c.80-16C>T	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 333046	NM_000090.4(COL3A1):c.80-13A>C	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 422573	NM_000090.4(COL3A1):c.80-4del	COL3A1	Deletion (intron variant)	not specified	GLikely benign
Select item 628748	NM_000090.4(COL3A1):c.86_88del (p.Glu29del)	COL3A1 (E29del)	Deletion (inframe_deletion)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 918785	NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp)	COL3A1 (E29D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 1305508	NM_000090.4(COL3A1):c.95G>A (p.Cys32Tyr)	COL3A1 (C32Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 199751	NM_000090.4(COL3A1):c.101A>G (p.His34Arg)	COL3A1 (H34R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 199689	NM_000090.4(COL3A1):c.114C>G (p.Ser38=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +4 more	GBenign/Likely benign
Select item 199690	NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)	COL3A1 (A40V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 628509	NM_000090.4(COL3A1):c.120G>A (p.Ala40=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 199691	NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)	COL3A1 (D41Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 385534	NM_000090.4(COL3A1):c.123T>C (p.Asp41=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 199707	NM_000090.4(COL3A1):c.130G>A (p.Val44Ile)	COL3A1 (V44I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GLikely benign
Select item 404291	NM_000090.4(COL3A1):c.178G>A (p.Val60Ile)	COL3A1 (V60I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 263619	NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)	COL3A1 (I66M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 426341	NM_000090.4(COL3A1):c.200G>C (p.Cys67Ser)	COL3A1 (C67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 199708	NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)	COL3A1 (D68G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 412902	NM_000090.4(COL3A1):c.204C>T (p.Asp68=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
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 519601	NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)	COL3A1 (N76D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GConflicting classifications of pathogenicity
Select item 3364530	NM_000090.4(COL3A1):c.250T>C (p.Cys84Arg)	COL3A1 (C84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312401	NM_000090.4(COL3A1):c.263G>A (p.Cys88Tyr)	COL3A1 (C88Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 263835	NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)	COL3A1 (P89L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 199709	NM_000090.4(COL3A1):c.266C>G (p.Pro89Arg)	COL3A1 (P89R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 529312	NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu)	COL3A1 (P91L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 1803482	NM_000090.4(COL3A1):c.274C>G (p.Pro92Ala)	COL3A1 (P92A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430560	NM_000090.4(COL3A1):c.282+1G>C	COL3A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 673782	NM_000090.4(COL3A1):c.282+85A>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2574259	NM_000090.4(COL3A1):c.283-7T>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 697136	NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys)	COL3A1 (R97C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 2147619	NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)	COL3A1 (G101D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 404286	NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser)	COL3A1 (G106S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 675295	NM_000090.4(COL3A1):c.333+130C>T	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675681	NM_000090.4(COL3A1):c.334-186C>T	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675731	NM_000090.4(COL3A1):c.334-175G>A	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382806	NM_000090.4(COL3A1):c.334-13A>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +2 more	GLikely benign
Select item 385649	NM_000090.4(COL3A1):c.334-4T>A	COL3A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 854169	NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser)	COL3A1 (I116S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 651172	NM_000090.4(COL3A1):c.349C>A (p.Pro117Thr)	COL3A1 (P117T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 380757	NM_000090.4(COL3A1):c.408C>G (p.Gly136=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 384757	NM_000090.4(COL3A1):c.447+13C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 675243	NM_000090.4(COL3A1):c.447+190T>C	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 923647	NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del)	COL3A1 (G168del)	Microsatellite (inframe_deletion)	Ehlers-Danlos syndrome, type 4 +2 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 263818	NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr)	COL3A1 (A170T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1329349	NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser)	COL3A1 (G171S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely pathogenic
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 2413006	NM_000090.4(COL3A1):c.517C>G (p.Pro173Ala)	COL3A1 (P173A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
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 199710	NM_000090.4(COL3A1):c.528+5G>C	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 388541	NM_000090.4(COL3A1):c.528+12T>C	COL3A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1266572	NM_000090.4(COL3A1):c.528+22C>T	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297287	NM_000090.4(COL3A1):c.528+227dup	COL3A1	Duplication (intron variant)	not provided	GBenign
Select item 1297454	NM_000090.4(COL3A1):c.528+228C>A	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668733	NM_000090.4(COL3A1):c.528+250T>A	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669926	NM_000090.4(COL3A1):c.529-318A>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301194	NM_000090.4(COL3A1):c.536dup (p.Gly180fs)	COL3A1 (G180fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 263640	NM_000090.4(COL3A1):c.531C>A (p.Gly177=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
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 17228	NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 1703895	NM_000090.4(COL3A1):c.550C>A (p.Pro184Thr)	COL3A1 (P184T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382245	NM_000090.4(COL3A1):c.552C>T (p.Pro184=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 263923	NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg)	COL3A1 (P185R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 101141	NM_000090.4(COL3A1):c.555del (p.Gly186fs)	COL3A1 (G186fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic
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 +2 more	GConflicting classifications of pathogenicity
Select item 199752	NM_000090.4(COL3A1):c.565G>A (p.Gly189Ser)	COL3A1 (G189S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 675258	NM_000090.4(COL3A1):c.582+157A>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136841	NM_000090.4(COL3A1):c.583-8C>T	COL3A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 3371328	NM_000090.4(COL3A1):c.595T>C (p.Tyr199His)	COL3A1 (Y199H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326627	NM_000090.4(COL3A1):c.601G>T (p.Gly201Ter)	COL3A1 (G201*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 620540	NM_000090.4(COL3A1):c.622C>T (p.Gln208Ter)	COL3A1 (Q208*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1203022	NM_000090.4(COL3A1):c.635C>T (p.Ser212Leu)	COL3A1 (S212L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 676607	NM_000090.4(COL3A1):c.636+91A>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673615	NM_000090.4(COL3A1):c.636+126C>T	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679880	NM_000090.4(COL3A1):c.637-243G>A	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190949	NM_000090.4(COL3A1):c.637-11C>T	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775094	NM_000090.4(COL3A1):c.661A>G (p.Ile221Val)	COL3A1 (I221V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 920471	NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser)	COL3A1 (P223S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 101469	NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)	COL3A1	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 506578	NM_000090.4(COL3A1):c.690+3A>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +1 more	GConflicting classifications of pathogenicity
Select item 674621	NM_000090.4(COL3A1):c.690+24G>T	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198283	NM_000090.4(COL3A1):c.690+97del	COL3A1	Deletion (intron variant)	not provided	GLikely benign
Select item 675785	NM_000090.4(COL3A1):c.690+162A>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign

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