COL3A1[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogeni - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 5836271.	NC_000002.11:g.(?_189839196)_(189839314_?)dup GRCh37: Chr2:189839196-189839314 GRCh38: Chr2:188974470-188974588	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 1014352.	NM_000090.4(COL3A1):c.30G>A (p.Trp10Ter) GRCh37: Chr2:189839245 GRCh38: Chr2:188974519	COL3A1	W10*	Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 14886323.	NM_000090.4(COL3A1):c.80-2A>T GRCh37: Chr2:189849484 GRCh38: Chr2:188984758	COL3A1		Ehlers-Danlos syndrome, type 4	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 5750324.	NM_000090.4(COL3A1):c.80-1G>C GRCh37: Chr2:189849485 GRCh38: Chr2:188984759	COL3A1		Ehlers-Danlos syndrome, type 4	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 4043005.	NM_000090.4(COL3A1):c.81del (p.Val28fs) GRCh37: Chr2:189849487 GRCh38: Chr2:188984761	COL3A1	V28fs	Ehlers-Danlos syndrome, type 4	Pathogenic (Feb 7, 2020)	criteria provided, single submitter
Select item 18107516.	NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter) GRCh37: Chr2:189849523 GRCh38: Chr2:188984797	COL3A1	Y39*	Ehlers-Danlos syndrome, type 4	Pathogenic (Jan 11, 2023)	no assertion criteria provided
Select item 5754067.	NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter) GRCh37: Chr2:189849540 GRCh38: Chr2:188984814	COL3A1	W45*	Ehlers-Danlos syndrome, type 4	Pathogenic (Nov 8, 2018)	criteria provided, single submitter
Select item 6192278.	NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala) GRCh37: Chr2:189849551 GRCh38: Chr2:188984825	COL3A1	P49A	Polymicrogyria with or without vascular-type ehlers-danlos syndrome, Ehlers-Danlos syndrome, type 4	Likely pathogenic (Jul 8, 2019)	criteria provided, multiple submitters, no conflicts
Select item 21040159.	NM_000090.4(COL3A1):c.150C>A (p.Cys50Ter) GRCh37: Chr2:189849556 GRCh38: Chr2:188984830	COL3A1	C50*	Ehlers-Danlos syndrome, type 4	Pathogenic (Mar 25, 2022)	criteria provided, single submitter
Select item 137612210.	NM_000090.4(COL3A1):c.181del (p.Leu61fs) GRCh37: Chr2:189849587 GRCh38: Chr2:188984861	COL3A1	L61fs	Ehlers-Danlos syndrome, type 4	Pathogenic (Sep 8, 2021)	criteria provided, single submitter
Select item 43056011.	NM_000090.4(COL3A1):c.282+1G>C GRCh37: Chr2:189849689 GRCh38: Chr2:188984963	COL3A1		not provided	Likely pathogenic (Sep 13, 2016)	criteria provided, single submitter
Select item 117251712.	NM_000090.4(COL3A1):c.318_325del (p.Pro107fs) GRCh37: Chr2:189849953-189849960 GRCh38: Chr2:188985227-188985234	COL3A1	P107fs	Ehlers-Danlos syndrome, type 4	Pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 85739113.	NM_000090.4(COL3A1):c.334-2A>G GRCh37: Chr2:189850389 GRCh38: Chr2:188985663	COL3A1		Ehlers-Danlos syndrome, type 4	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 1721914.	NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg) GRCh37: Chr2:189850463 GRCh38: Chr2:188985737	COL3A1	G136R	Ehlers-Danlos syndrome, type 4	Pathogenic (Jun 1, 1993)	no assertion criteria provided
Select item 143479915.	NM_000090.4(COL3A1):c.413dup (p.Gly139fs) GRCh37: Chr2:189850464-189850465 GRCh38: Chr2:188985738-188985739	COL3A1	G139fs	Ehlers-Danlos syndrome, type 4	Pathogenic (Jan 8, 2021)	criteria provided, single submitter
Select item 10147416.	NM_000090.4(COL3A1):c.413del (p.Pro138fs) GRCh37: Chr2:189850465 GRCh38: Chr2:188985739	COL3A1	P138fs	Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 63317917.	NM_000090.4(COL3A1):c.447+1G>A GRCh37: Chr2:189850505 GRCh38: Chr2:188985779	COL3A1		Familial aortopathy	Likely pathogenic (Oct 10, 2017)	criteria provided, single submitter
Select item 95117918.	NM_000090.4(COL3A1):c.448-1G>T GRCh37: Chr2:189851784 GRCh38: Chr2:188987058	COL3A1		Ehlers-Danlos syndrome, type 4, Inborn genetic diseases	Likely pathogenic (Jan 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2963819.	NM_000090.4(COL3A1):c.479dup (p.Lys161fs) GRCh37: Chr2:189851815-189851816 GRCh38: Chr2:188987089-188987090	COL3A1	K161fs	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	Pathogenic (Nov 1, 2009)	no assertion criteria provided
Select item 208928020.	NM_000090.4(COL3A1):c.500dup (p.Gly168fs) GRCh37: Chr2:189851835-189851836 GRCh38: Chr2:188987109-188987110	COL3A1	G168fs	Ehlers-Danlos syndrome, type 4	Pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 19971021.	NM_000090.4(COL3A1):c.528+5G>C GRCh37: Chr2:189851870 GRCh38: Chr2:188987144	COL3A1		not provided	Likely pathogenic (Aug 15, 2014)	criteria provided, single submitter
Select item 41733022.	NC_000002.11:g.(?_189852807)_(189855783_?)dup GRCh37: Chr2:189852807-189855783 GRCh38: Chr2:188988081-188991057	COL3A1		Ehlers-Danlos syndrome, type 4	Likely pathogenic (May 22, 2016)	criteria provided, single submitter
Select item 147128823.	NM_000090.4(COL3A1):c.530G>C (p.Gly177Ala) GRCh37: Chr2:189852808 GRCh38: Chr2:188988082	COL3A1	G177A	Ehlers-Danlos syndrome, type 4	Likely pathogenic (Nov 6, 2021)	criteria provided, single submitter
Select item 130119424.	NM_000090.4(COL3A1):c.536dup (p.Gly180fs) GRCh37: Chr2:189852808-189852809 GRCh38: Chr2:188988082-188988083	COL3A1	G180fs	not provided	Pathogenic (Sep 21, 2021)	criteria provided, single submitter
Select item 116323625.	NM_000090.4(COL3A1):c.530G>T (p.Gly177Val) GRCh37: Chr2:189852808 GRCh38: Chr2:188988082	COL3A1	G177V	Ehlers-Danlos syndrome, type 4, not provided	Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 51712726.	NM_000090.4(COL3A1):c.536del (p.Pro179fs) GRCh37: Chr2:189852809 GRCh38: Chr2:188988083	COL3A1	P179fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic	no assertion criteria provided
Select item 10148327.	NM_000090.4(COL3A1):c.539G>A (p.Gly180Asp) GRCh37: Chr2:189852817 GRCh38: Chr2:188988091	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10119128.	NM_000090.4(COL3A1):c.547G>C (p.Gly183Arg) GRCh37: Chr2:189852825 GRCh38: Chr2:188988099	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10117129.	NM_000090.4(COL3A1):c.547G>T (p.Gly183Cys) GRCh37: Chr2:189852825 GRCh38: Chr2:188988099	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 1722830.	NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) GRCh37: Chr2:189852825 GRCh38: Chr2:188988099	COL3A1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4	Pathogenic/Likely pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145717831.	NM_000090.4(COL3A1):c.548G>T (p.Gly183Val) GRCh37: Chr2:189852826 GRCh38: Chr2:188988100	COL3A1	G183V	Ehlers-Danlos syndrome, type 4	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 10138432.	NM_000090.4(COL3A1):c.548G>C (p.Gly183Ala) GRCh37: Chr2:189852826 GRCh38: Chr2:188988100	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10110533.	NM_000090.4(COL3A1):c.548G>A (p.Gly183Asp) GRCh37: Chr2:189852826 GRCh38: Chr2:188988100	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10114134.	NM_000090.4(COL3A1):c.555del (p.Gly186fs) GRCh37: Chr2:189852833 GRCh38: Chr2:188988107	COL3A1	G186fs	Ehlers-Danlos syndrome, type 4, not provided	Pathogenic (Jan 2, 2020)	criteria provided, multiple submitters, no conflicts
Select item 10113535.	NM_000090.4(COL3A1):c.556G>A (p.Gly186Ser) GRCh37: Chr2:189852834 GRCh38: Chr2:188988108	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 19975236.	NM_000090.4(COL3A1):c.565G>A (p.Gly189Ser) GRCh37: Chr2:189852843 GRCh38: Chr2:188988117	COL3A1	G189S	not provided	Likely pathogenic (Sep 15, 2014)	criteria provided, single submitter
Select item 10120537.	NM_000090.4(COL3A1):c.565G>C (p.Gly189Arg) GRCh37: Chr2:189852843 GRCh38: Chr2:188988117	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10147738.	NM_000090.4(COL3A1):c.575G>T (p.Gly192Val) GRCh37: Chr2:189852853 GRCh38: Chr2:188988127	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10122439.	NM_000090.4(COL3A1):c.582+2dup GRCh37: Chr2:189852861-189852862 GRCh38: Chr2:188988135-188988136	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10120640.	NM_000090.4(COL3A1):c.582+1G>C GRCh37: Chr2:189852861 GRCh38: Chr2:188988135	COL3A1		Ehlers-Danlos syndrome	Likely pathogenic (Jan 11, 2021)	criteria provided, single submitter
Select item 170831541.	NM_000090.4(COL3A1):c.582+2T>C GRCh37: Chr2:189852862 GRCh38: Chr2:188988136	COL3A1		See cases	Pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 10149242.	NM_000090.4(COL3A1):c.582+5G>T GRCh37: Chr2:189852865 GRCh38: Chr2:188988139	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10142543.	NM_000090.4(COL3A1):c.582+5G>A GRCh37: Chr2:189852865 GRCh38: Chr2:188988139	COL3A1		Ehlers-Danlos syndrome, type 4, not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10122744.	NM_000090.4(COL3A1):c.582+5_582+11delinsACA GRCh37: Chr2:189852865-189852871 GRCh38: Chr2:188988139-188988145	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10126045.	NM_000090.4(COL3A1):c.582+6T>A GRCh37: Chr2:189852866 GRCh38: Chr2:188988140	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 1722046.	NM_000090.4(COL3A1):c.582+6T>C GRCh37: Chr2:189852866 GRCh38: Chr2:188988140	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic (May 1, 1993)	no assertion criteria provided
Select item 10139447.	NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC GRCh37: Chr2:189852915-189855406 GRCh38: Chr2:188988189-188990680	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10139248.	NM_000090.4(COL3A1):c.583G>C (p.Gly195Arg) GRCh37: Chr2:189853316 GRCh38: Chr2:188988590	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 7434849.	NM_000090.4(COL3A1):c.583G>A (p.Gly195Arg) GRCh37: Chr2:189853316 GRCh38: Chr2:188988590	COL3A1	G195R	Ehlers-Danlos syndrome, type 4	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 49330550.	NM_000090.4(COL3A1):c.584G>T (p.Gly195Val) GRCh37: Chr2:189853317 GRCh38: Chr2:188988591	COL3A1	G195V	not provided	Likely pathogenic (Jul 1, 2017)	criteria provided, single submitter
Select item 10131551.	NM_000090.4(COL3A1):c.592G>A (p.Gly198Arg) GRCh37: Chr2:189853325 GRCh38: Chr2:188988599	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10137352.	NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu) GRCh37: Chr2:189853326 GRCh38: Chr2:188988600	COL3A1		Ehlers-Danlos syndrome, type 4	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 132662753.	NM_000090.4(COL3A1):c.601G>T (p.Gly201Ter) GRCh37: Chr2:189853334 GRCh38: Chr2:188988608	COL3A1	G201*	not provided	Likely pathogenic (May 26, 2021)	criteria provided, single submitter
Select item 10112354.	NM_000090.4(COL3A1):c.601G>C (p.Gly201Arg) GRCh37: Chr2:189853334 GRCh38: Chr2:188988608	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 45979455.	NM_000090.4(COL3A1):c.608del (p.Pro203fs) GRCh37: Chr2:189853337 GRCh38: Chr2:188988611	COL3A1	P203fs	Ehlers-Danlos syndrome, type 4	Pathogenic (Jan 27, 2017)	criteria provided, single submitter
Select item 10147856.	NM_000090.4(COL3A1):c.610G>A (p.Gly204Ser) GRCh37: Chr2:189853343 GRCh38: Chr2:188988617	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10135157.	NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp) GRCh37: Chr2:189853344 GRCh38: Chr2:188988618	COL3A1		Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10135358.	NM_000090.4(COL3A1):c.615_629dup (p.Gly207_Pro211dup) GRCh37: Chr2:189853347-189853348 GRCh38: Chr2:188988621-188988622	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 45979559.	NM_000090.4(COL3A1):c.619G>T (p.Gly207Trp) GRCh37: Chr2:189853352 GRCh38: Chr2:188988626	COL3A1	G207W	Ehlers-Danlos syndrome, type 4	Pathogenic (May 14, 2018)	criteria provided, single submitter
Select item 10130660.	NM_000090.4(COL3A1):c.620G>T (p.Gly207Val) GRCh37: Chr2:189853353 GRCh38: Chr2:188988627	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 62054061.	NM_000090.4(COL3A1):c.622C>T (p.Gln208Ter) GRCh37: Chr2:189853355 GRCh38: Chr2:188988629	COL3A1	Q208*	not provided	Likely pathogenic (Jan 16, 2019)	criteria provided, single submitter
Select item 10121562.	NM_000090.4(COL3A1):c.629G>T (p.Gly210Val) GRCh37: Chr2:189853362 GRCh38: Chr2:188988636	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10143963.	NM_000090.4(COL3A1):c.631_636+6delinsTACTAAATATA GRCh37: Chr2:189853364-189853375 GRCh38: Chr2:188988638-188988649	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10143364.	NM_000090.4(COL3A1):c.636+1G>A GRCh37: Chr2:189853370 GRCh38: Chr2:188988644	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10144865.	NM_000090.4(COL3A1):c.636+5G>A GRCh37: Chr2:189853374 GRCh38: Chr2:188988648	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic (May 3, 2018)	criteria provided, multiple submitters, no conflicts
Select item 10126266.	NM_000090.4(COL3A1):c.637G>A (p.Gly213Ser) GRCh37: Chr2:189854122 GRCh38: Chr2:188989396	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 116323767.	NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp) GRCh37: Chr2:189854123 GRCh38: Chr2:188989397	COL3A1	G213D	Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4, not provided	Pathogenic/Likely pathogenic (Dec 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49283368.	NM_000090.3(COL3A1):c.638_639delinsAA (p.Gly213Glu) GRCh37: Chr2:189854123-189854124 GRCh38: Chr2:188989397-188989398	COL3A1		Aortic dissection	Likely pathogenic (Sep 18, 2015)	no assertion criteria provided
Select item 106594769.	NM_000090.4(COL3A1):c.648_665del (p.Pro218_Pro223del) GRCh37: Chr2:189854130-189854147 GRCh38: Chr2:188989404-188989421	COL3A1		Ehlers-Danlos syndrome, type 4	Likely pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 10131070.	NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu) GRCh37: Chr2:189854132 GRCh38: Chr2:188989406	COL3A1		Ehlers-Danlos syndrome, type 4	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 10134771.	NM_000090.4(COL3A1):c.655G>T (p.Gly219Cys) GRCh37: Chr2:189854140 GRCh38: Chr2:188989414	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10136072.	NM_000090.4(COL3A1):c.656G>A (p.Gly219Asp) GRCh37: Chr2:189854141 GRCh38: Chr2:188989415	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10112873.	NM_000090.4(COL3A1):c.656G>C (p.Gly219Ala) GRCh37: Chr2:189854141 GRCh38: Chr2:188989415	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10139374.	NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp) GRCh37: Chr2:189854150 GRCh38: Chr2:188989424	COL3A1		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 24, 2018)	criteria provided, single submitter
Select item 10121875.	NM_000090.4(COL3A1):c.665G>T (p.Gly222Val) GRCh37: Chr2:189854150 GRCh38: Chr2:188989424	COL3A1		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 3, 2019)	criteria provided, single submitter
Select item 139487376.	NM_000090.4(COL3A1):c.674G>A (p.Gly225Asp) GRCh37: Chr2:189854159 GRCh38: Chr2:188989433	COL3A1	G225D	Ehlers-Danlos syndrome, type 4	Pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 10146977.	NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) GRCh37: Chr2:189854159 GRCh38: Chr2:188989433	COL3A1		not provided, Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10123678.	NM_000090.4(COL3A1):c.674G>T (p.Gly225Val) GRCh37: Chr2:189854159 GRCh38: Chr2:188989433	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10116379.	NM_000090.4(COL3A1):c.682G>C (p.Gly228Arg) GRCh37: Chr2:189854167 GRCh38: Chr2:188989441	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10125980.	NM_000090.4(COL3A1):c.683G>A (p.Gly228Glu) GRCh37: Chr2:189854168 GRCh38: Chr2:188989442	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10140481.	NM_000090.4(COL3A1):c.690+1G>A GRCh37: Chr2:189854176 GRCh38: Chr2:188989450	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10126882.	NM_000090.4(COL3A1):c.690+2T>A GRCh37: Chr2:189854177 GRCh38: Chr2:188989451	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10119483.	NM_000090.4(COL3A1):c.690+2T>G GRCh37: Chr2:189854177 GRCh38: Chr2:188989451	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 65187884.	NM_000090.4(COL3A1):c.691-2A>G GRCh37: Chr2:189854820 GRCh38: Chr2:188990094	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic (Oct 13, 2019)	criteria provided, single submitter
Select item 217800785.	NM_000090.4(COL3A1):c.691-1G>A GRCh37: Chr2:189854821 GRCh38: Chr2:188990095	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 145664286.	NM_000090.4(COL3A1):c.698C>G (p.Ser233Ter) GRCh37: Chr2:189854829 GRCh38: Chr2:188990103	COL3A1	S233*	Ehlers-Danlos syndrome, type 4	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 10139987.	NM_000090.4(COL3A1):c.701G>A (p.Gly234Asp) GRCh37: Chr2:189854832 GRCh38: Chr2:188990106	COL3A1		Ehlers-Danlos syndrome, type 4	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 51960388.	NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter) GRCh37: Chr2:189854843 GRCh38: Chr2:188990117	COL3A1	R238*	Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4	Pathogenic/Likely pathogenic (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10116189.	NM_000090.4(COL3A1):c.718G>C (p.Gly240Arg) GRCh37: Chr2:189854849 GRCh38: Chr2:188990123	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 52931390.	NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys) GRCh37: Chr2:189854852 GRCh38: Chr2:188990126	COL3A1	E241K	Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, type 4	Likely pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80184091.	NM_000090.4(COL3A1):c.724C>T (p.Arg242Ter) GRCh37: Chr2:189854855 GRCh38: Chr2:188990129	COL3A1	R242*	Ehlers-Danlos syndrome, type 4	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 212979992.	NM_000090.4(COL3A1):c.727G>C (p.Gly243Arg) GRCh37: Chr2:189854858 GRCh38: Chr2:188990132	COL3A1	G243R	Ehlers-Danlos syndrome, type 4	Likely pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 10142893.	NM_000090.4(COL3A1):c.728G>A (p.Gly243Glu) GRCh37: Chr2:189854859 GRCh38: Chr2:188990133	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10135694.	NM_000090.4(COL3A1):c.728G>T (p.Gly243Val) GRCh37: Chr2:189854859 GRCh38: Chr2:188990133	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 10128195.	NM_000090.4(COL3A1):c.737G>A (p.Gly246Glu) GRCh37: Chr2:189854868 GRCh38: Chr2:188990142	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic	no assertion criteria provided
Select item 148858396.	NM_000090.4(COL3A1):c.745G>A (p.Gly249Ser) GRCh37: Chr2:189855033 GRCh38: Chr2:188990307	COL3A1	G249S	Ehlers-Danlos syndrome, type 4	Likely pathogenic (Oct 8, 2021)	criteria provided, single submitter
Select item 10129597.	NM_000090.4(COL3A1):c.746G>T (p.Gly249Val) GRCh37: Chr2:189855034 GRCh38: Chr2:188990308	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 1720898.	NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp) GRCh37: Chr2:189855034 GRCh38: Chr2:188990308	COL3A1		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Dec 29, 2017)	criteria provided, single submitter
Select item 120995199.	NM_000090.4(COL3A1):c.753del (p.Gly252fs) GRCh37: Chr2:189855039 GRCh38: Chr2:188990313	COL3A1	G252fs	not provided	Pathogenic	no assertion criteria provided
Select item 2120816100.	NM_000090.4(COL3A1):c.754G>A (p.Gly252Ser) GRCh37: Chr2:189855042 GRCh38: Chr2:188990316	COL3A1	G252S	Ehlers-Danlos syndrome, type 4	Pathogenic (Apr 2, 2022)	criteria provided, single submitter

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