ClinVar for MedGen (Select 82790) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25785481.	NM_000090.4(COL3A1):c.3094G>A (p.Gly1032Ser) GRCh37: Chr2:189871071 GRCh38: Chr2:189006345	COL3A1	G1032S	Ehlers-Danlos syndrome, type 4	Uncertain significance (May 25, 2023)	criteria provided, single submitter
Select item 25022492.	NM_000090.4(COL3A1):c.396del (p.Gly133fs) GRCh37: Chr2:189850453 GRCh38: Chr2:188985727	COL3A1	G133fs	Ehlers-Danlos syndrome, type 4	Likely pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 24313613.	NM_000090.4(COL3A1):c.1857C>T (p.Pro619=) GRCh37: Chr2:189862103 GRCh38: Chr2:188997377	COL3A1		Ehlers-Danlos syndrome, type 4	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 24284614.	NM_000090.4(COL3A1):c.895A>G (p.Met299Val) GRCh37: Chr2:189856255 GRCh38: Chr2:188991529	COL3A1	M299V	Ehlers-Danlos syndrome, type 4	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 24223405.	NC_000002.11:g.(?_189839216)_(190044330_?)del GRCh37: Chr2:189839216-190044330	COL3A1, COL5A2		Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome, classic type, 1	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 24223396.	NC_000002.11:g.(?_189849903)_(189957166_?)dup GRCh37: Chr2:189849903-189957166	COL3A1, COL5A2		Ehlers-Danlos syndrome, type 4	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 24223387.	NC_000002.11:g.(?_189860841)_(189861232_?)del GRCh37: Chr2:189860841-189861232	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 24223378.	NC_000002.11:g.(?_189839216)_(189839314_?)del GRCh37: Chr2:189839216-189839314	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 24199689.	NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter) GRCh37: Chr2:189871705 GRCh38: Chr2:189006979	COL3A1	R1082*	Ehlers-Danlos syndrome, type 4	Pathogenic (May 17, 2022)	criteria provided, single submitter
Select item 241889410.	NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter) GRCh37: Chr2:189861175 GRCh38: Chr2:188996449	COL3A1	R572*	Ehlers-Danlos syndrome, type 4	Pathogenic (Jul 16, 2022)	criteria provided, single submitter
Select item 241809311.	NM_000090.4(COL3A1):c.1816-17A>T GRCh37: Chr2:189862045 GRCh38: Chr2:188997319	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 241755412.	NM_000090.4(COL3A1):c.1294-9A>G GRCh37: Chr2:189859258 GRCh38: Chr2:188994532	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 241561613.	NM_000090.4(COL3A1):c.1294-12G>T GRCh37: Chr2:189859255 GRCh38: Chr2:188994529	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 241387514.	NM_000090.4(COL3A1):c.4255-10T>G GRCh37: Chr2:189876344 GRCh38: Chr2:189011618	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 241350015.	NM_000090.4(COL3A1):c.488G>T (p.Gly163Val) GRCh37: Chr2:189851825 GRCh38: Chr2:188987099	COL3A1	G163V	Ehlers-Danlos syndrome, type 4	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 220323316.	NM_000090.4(COL3A1):c.4011+1G>A GRCh37: Chr2:189875092 GRCh38: Chr2:189010366	COL3A1		Ehlers-Danlos syndrome, type 4	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 220323017.	NM_000090.4(COL3A1):c.2283+5G>A GRCh37: Chr2:189864626 GRCh38: Chr2:188999900	COL3A1		Ehlers-Danlos syndrome, type 4	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 220322918.	NM_000090.4(COL3A1):c.2104G>A (p.Gly702Ser) GRCh37: Chr2:189864092 GRCh38: Chr2:188999366	COL3A1	G702S	Ehlers-Danlos syndrome, type 4	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 219710219.	NM_000090.4(COL3A1):c.1869+13A>T GRCh37: Chr2:189862128 GRCh38: Chr2:188997402	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 219701220.	NM_000090.4(COL3A1):c.2253T>C (p.Ala751=) GRCh37: Chr2:189864591 GRCh38: Chr2:188999865	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 219588021.	NM_000090.4(COL3A1):c.2446-10T>A GRCh37: Chr2:189867671 GRCh38: Chr2:189002945	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 219448722.	NM_000090.4(COL3A1):c.2541T>C (p.Gly847=) GRCh37: Chr2:189867776 GRCh38: Chr2:189003050	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 219247723.	NM_000090.4(COL3A1):c.2079A>T (p.Gly693=) GRCh37: Chr2:189864067 GRCh38: Chr2:188999341	COL3A1		Ehlers-Danlos syndrome, type 4	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 219025624.	NM_000090.4(COL3A1):c.898-4G>T GRCh37: Chr2:189856391 GRCh38: Chr2:188991665	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 218842925.	NM_000090.4(COL3A1):c.1354G>T (p.Ala452Ser) GRCh37: Chr2:189859456 GRCh38: Chr2:188994730	COL3A1	A452S	Ehlers-Danlos syndrome, type 4	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 218592626.	NM_000090.4(COL3A1):c.1237C>T (p.Arg413Trp) GRCh37: Chr2:189859002 GRCh38: Chr2:188994276	COL3A1	R413W	Ehlers-Danlos syndrome, type 4	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 218592527.	NM_000090.4(COL3A1):c.2389C>T (p.Pro797Ser) GRCh37: Chr2:189866313 GRCh38: Chr2:189001587	COL3A1, LOC126806446	P797S	Ehlers-Danlos syndrome, type 4	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 218501628.	NM_000090.4(COL3A1):c.2445+14T>G GRCh37: Chr2:189867091 GRCh38: Chr2:189002365	COL3A1, LOC126806446		Ehlers-Danlos syndrome, type 4	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 218461629.	NM_000090.4(COL3A1):c.690+11A>G GRCh37: Chr2:189854186 GRCh38: Chr2:188989460	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 218239630.	NM_000090.4(COL3A1):c.3694G>C (p.Asp1232His) GRCh37: Chr2:189873818 GRCh38: Chr2:189009092	COL3A1	D1232H	Ehlers-Danlos syndrome, type 4	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 218179031.	NM_000090.4(COL3A1):c.3255+18T>G GRCh37: Chr2:189871734 GRCh38: Chr2:189007008	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 218167832.	NM_000090.4(COL3A1):c.2283+15T>C GRCh37: Chr2:189864636 GRCh38: Chr2:188999910	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 217991233.	NM_000090.4(COL3A1):c.2661+14A>T GRCh37: Chr2:189868527 GRCh38: Chr2:189003801	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 217954334.	NM_000090.4(COL3A1):c.2283+9T>A GRCh37: Chr2:189864630 GRCh38: Chr2:188999904	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 217910635.	NM_000090.4(COL3A1):c.4396T>C (p.Leu1466=) GRCh37: Chr2:189876495 GRCh38: Chr2:189011769	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 217831936.	NM_000090.4(COL3A1):c.1348-8T>A GRCh37: Chr2:189859442 GRCh38: Chr2:188994716	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 217809737.	NM_000090.4(COL3A1):c.283-10C>T GRCh37: Chr2:189849913 GRCh38: Chr2:188985187	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 217800738.	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 217605839.	NM_000090.4(COL3A1):c.2824-8T>C GRCh37: Chr2:189868975 GRCh38: Chr2:189004249	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 217469140.	NM_000090.4(COL3A1):c.2850T>C (p.Ala950=) GRCh37: Chr2:189869009 GRCh38: Chr2:189004283	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 217450841.	NM_000090.4(COL3A1):c.3619G>A (p.Gly1207Arg) GRCh37: Chr2:189873743 GRCh38: Chr2:189009017	COL3A1	G1207R	Ehlers-Danlos syndrome, type 4	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 217416142.	NM_000090.4(COL3A1):c.2268G>A (p.Gly756=) GRCh37: Chr2:189864606 GRCh38: Chr2:188999880	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 217415943.	NM_000090.4(COL3A1):c.3729A>G (p.Gly1243=) GRCh37: Chr2:189873853 GRCh38: Chr2:189009127	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 217332244.	NM_000090.4(COL3A1):c.2544T>C (p.Ser848=) GRCh37: Chr2:189867779 GRCh38: Chr2:189003053	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 217284145.	NM_000090.4(COL3A1):c.515A>G (p.Tyr172Cys) GRCh37: Chr2:189851852 GRCh38: Chr2:188987126	COL3A1	Y172C	Ehlers-Danlos syndrome, type 4	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 217256146.	NM_000090.4(COL3A1):c.1455+18C>A GRCh37: Chr2:189859575 GRCh38: Chr2:188994849	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 217216447.	NM_000090.4(COL3A1):c.2745C>T (p.Gly915=) GRCh37: Chr2:189868791 GRCh38: Chr2:189004065	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 217106648.	NM_000090.4(COL3A1):c.529-8C>T GRCh37: Chr2:189852799 GRCh38: Chr2:188988073	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 217057449.	NM_000090.4(COL3A1):c.18A>C (p.Gln6His) GRCh37: Chr2:189839233 GRCh38: Chr2:188974507	COL3A1	Q6H	Ehlers-Danlos syndrome, type 4	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 216835350.	NM_000090.4(COL3A1):c.678T>C (p.Pro226=) GRCh37: Chr2:189854163 GRCh38: Chr2:188989437	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 216645351.	NM_000090.4(COL3A1):c.745-3T>C GRCh37: Chr2:189855030 GRCh38: Chr2:188990304	COL3A1		Ehlers-Danlos syndrome, type 4	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 216570152.	NM_000090.4(COL3A1):c.636+11A>G GRCh37: Chr2:189853380 GRCh38: Chr2:188988654	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 216537553.	NM_000090.4(COL3A1):c.1762-14C>T GRCh37: Chr2:189861877 GRCh38: Chr2:188997151	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 216516354.	NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys) GRCh37: Chr2:189861136 GRCh38: Chr2:188996410	COL3A1	E559K	Ehlers-Danlos syndrome, type 4	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 216476155.	NM_000090.4(COL3A1):c.1663-13T>G GRCh37: Chr2:189861111 GRCh38: Chr2:188996385	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 216227956.	NM_000090.4(COL3A1):c.3887T>C (p.Met1296Thr) GRCh37: Chr2:189874967 GRCh38: Chr2:189010241	COL3A1	M1296T	Ehlers-Danlos syndrome, type 4	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 216192557.	NM_000090.4(COL3A1):c.869C>T (p.Pro290Leu) GRCh37: Chr2:189856229 GRCh38: Chr2:188991503	COL3A1	P290L	Ehlers-Danlos syndrome, type 4	Uncertain significance (Jan 29, 2022)	criteria provided, single submitter
Select item 216054058.	NM_000090.4(COL3A1):c.3363+18G>C GRCh37: Chr2:189872351 GRCh38: Chr2:189007625	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 215970359.	NM_000090.4(COL3A1):c.1064C>A (p.Pro355His) GRCh37: Chr2:189858100 GRCh38: Chr2:188993374	COL3A1	P355H	Ehlers-Danlos syndrome, type 4	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 215939560.	NM_000090.4(COL3A1):c.1509+18C>A GRCh37: Chr2:189859843 GRCh38: Chr2:188995117	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 215700361.	NM_000090.4(COL3A1):c.1923+9T>C GRCh37: Chr2:189862488 GRCh38: Chr2:188997762	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 215652162.	NM_000090.4(COL3A1):c.3824-18T>C GRCh37: Chr2:189874886 GRCh38: Chr2:189010160	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 215646363.	NM_000090.4(COL3A1):c.3749G>A (p.Ser1250Asn) GRCh37: Chr2:189873873 GRCh38: Chr2:189009147	COL3A1	S1250N	Ehlers-Danlos syndrome, type 4	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 215483064.	NM_000090.4(COL3A1):c.283-20_283-17del GRCh37: Chr2:189849901-189849904 GRCh38: Chr2:188985175-188985178	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 215179665.	NM_000090.4(COL3A1):c.3911G>C (p.Ser1304Thr) GRCh37: Chr2:189874991 GRCh38: Chr2:189010265	COL3A1	S1304T	Ehlers-Danlos syndrome, type 4	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 214984766.	NM_000090.4(COL3A1):c.1270G>T (p.Ala424Ser) GRCh37: Chr2:189859035 GRCh38: Chr2:188994309	COL3A1	A424S	Ehlers-Danlos syndrome, type 4	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 214792467.	NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser) GRCh37: Chr2:189857625 GRCh38: Chr2:188992899	COL3A1	P337S	Ehlers-Danlos syndrome, type 4	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 214761968.	NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp) GRCh37: Chr2:189849942 GRCh38: Chr2:188985216	COL3A1	G101D	not provided, Ehlers-Danlos syndrome, type 4	Uncertain significance (Jan 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214663369.	NM_000090.4(COL3A1):c.2084G>A (p.Arg695Lys) GRCh37: Chr2:189864072 GRCh38: Chr2:188999346	COL3A1	R695K	Ehlers-Danlos syndrome, type 4	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 214548970.	NM_000090.4(COL3A1):c.2085A>G (p.Arg695=) GRCh37: Chr2:189864073 GRCh38: Chr2:188999347	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 214411171.	NM_000090.4(COL3A1):c.166G>A (p.Asp56Asn) GRCh37: Chr2:189849572 GRCh38: Chr2:188984846	COL3A1	D56N	Ehlers-Danlos syndrome, type 4	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 214274972.	NM_000090.4(COL3A1):c.2299A>G (p.Ile767Val) GRCh37: Chr2:189866138 GRCh38: Chr2:189001412	COL3A1	I767V	Ehlers-Danlos syndrome, type 4	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 214219073.	NM_000090.4(COL3A1):c.3697G>A (p.Glu1233Lys) GRCh37: Chr2:189873821 GRCh38: Chr2:189009095	COL3A1	E1233K	Ehlers-Danlos syndrome, type 4	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 213932574.	NM_000090.4(COL3A1):c.2932-10T>C GRCh37: Chr2:189870066 GRCh38: Chr2:189005340	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 213897375.	NM_000090.4(COL3A1):c.1345C>T (p.Arg449Cys) GRCh37: Chr2:189859318 GRCh38: Chr2:188994592	COL3A1	R449C	Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4	Uncertain significance (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213307676.	NM_000090.4(COL3A1):c.555T>C (p.Pro185=) GRCh37: Chr2:189852833 GRCh38: Chr2:188988107	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213250077.	NM_000090.4(COL3A1):c.1454G>A (p.Arg485Lys) GRCh37: Chr2:189859556 GRCh38: Chr2:188994830	COL3A1	R485K	Ehlers-Danlos syndrome, type 4	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 213196878.	NM_000090.4(COL3A1):c.1977+16T>A GRCh37: Chr2:189863061 GRCh38: Chr2:188998335	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 213012179.	NM_000090.4(COL3A1):c.1050+12T>G GRCh37: Chr2:189857678 GRCh38: Chr2:188992952	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212979980.	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 212918481.	NM_000090.4(COL3A1):c.3040-8T>G GRCh37: Chr2:189870924 GRCh38: Chr2:189006198	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 212897082.	NM_000090.4(COL3A1):c.1816G>T (p.Gly606Cys) GRCh37: Chr2:189862062 GRCh38: Chr2:188997336	COL3A1	G606C	Ehlers-Danlos syndrome, type 4	Likely pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 212375583.	NM_000090.4(COL3A1):c.785_786insTTT (p.Met262delinsIleLeu) GRCh37: Chr2:189855072-189855073 GRCh38: Chr2:188990346-188990347	COL3A1		Ehlers-Danlos syndrome, type 4	Likely pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 212175984.	NM_000090.4(COL3A1):c.3640G>A (p.Gly1214Ser) GRCh37: Chr2:189873764 GRCh38: Chr2:189009038	COL3A1	G1214S	Ehlers-Danlos syndrome, type 4	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 212081685.	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
Select item 211975186.	NM_000090.4(COL3A1):c.335G>A (p.Gly112Asp) GRCh37: Chr2:189850392 GRCh38: Chr2:188985666	COL3A1	G112D	Ehlers-Danlos syndrome, type 4	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 211871587.	NM_000090.4(COL3A1):c.2888del (p.Gly963fs) GRCh37: Chr2:189869046 GRCh38: Chr2:189004320	COL3A1	G963fs	Ehlers-Danlos syndrome, type 4	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 211862088.	NM_000090.4(COL3A1):c.2801del (p.Ser934fs) GRCh37: Chr2:189868847 GRCh38: Chr2:189004121	COL3A1	S934fs	Ehlers-Danlos syndrome, type 4	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 211510089.	NM_000090.4(COL3A1):c.4298C>T (p.Thr1433Ile) GRCh37: Chr2:189876397 GRCh38: Chr2:189011671	COL3A1	T1433I	Ehlers-Danlos syndrome, type 4	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 210995990.	NM_000090.4(COL3A1):c.1924-13_1924-2del GRCh37: Chr2:189862977-189862988 GRCh38: Chr2:188998251-188998262	COL3A1		Ehlers-Danlos syndrome, type 4	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210770691.	NM_000090.4(COL3A1):c.447+7C>A GRCh37: Chr2:189850511 GRCh38: Chr2:188985785	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 210401592.	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 210346993.	NM_000090.4(COL3A1):c.3417+9C>A GRCh37: Chr2:189872673 GRCh38: Chr2:189007947	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 210129294.	NM_000090.4(COL3A1):c.777C>G (p.Phe259Leu) GRCh37: Chr2:189855065 GRCh38: Chr2:188990339	COL3A1	F259L	Ehlers-Danlos syndrome, type 4	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 210126895.	NM_000090.4(COL3A1):c.3039+8G>A GRCh37: Chr2:189870191 GRCh38: Chr2:189005465	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 209977396.	NM_000090.4(COL3A1):c.4011G>T (p.Gln1337His) GRCh37: Chr2:189875091 GRCh38: Chr2:189010365	COL3A1	Q1337H	Ehlers-Danlos syndrome, type 4	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 209926897.	NM_000090.4(COL3A1):c.1194+15C>G GRCh37: Chr2:189858823 GRCh38: Chr2:188994097	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 209887098.	NM_000090.4(COL3A1):c.3885T>C (p.Asn1295=) GRCh37: Chr2:189874965 GRCh38: Chr2:189010239	COL3A1		Ehlers-Danlos syndrome, type 4	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 209095899.	NM_000090.4(COL3A1):c.3497G>C (p.Arg1166Pro) GRCh37: Chr2:189872840 GRCh38: Chr2:189008114	COL3A1	R1166P	Ehlers-Danlos syndrome, type 4	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 2090129100.	NM_000090.4(COL3A1):c.447G>A (p.Gln149=) GRCh37: Chr2:189850504 GRCh38: Chr2:188985778	COL3A1		Ehlers-Danlos syndrome, type 4	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter

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