ClinVar for MedGen (Select 335542) - ClinVar

Links from MedGen

Items: 68

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25802171.	NM_002381.5(MATN3):c.302A>G (p.Lys101Arg) GRCh37: Chr2:20205993 GRCh38: Chr2:20006232	MATN3	K101R	Multiple epiphyseal dysplasia type 5	Uncertain significance (Apr 3, 2023)	criteria provided, single submitter
Select item 16834582.	NM_002381.5(MATN3):c.368C>T (p.Ala123Val) GRCh37: Chr2:20205927 GRCh38: Chr2:20006166	MATN3	A123V	Multiple epiphyseal dysplasia type 5	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 13294773.	NM_002381.5(MATN3):c.284G>A (p.Arg95Gln) GRCh37: Chr2:20206011 GRCh38: Chr2:20006250	MATN3	R95Q	Multiple epiphyseal dysplasia type 5	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 12994964.	NC_000002.12:g.19998776_20009244dup GRCh38: Chr2:19998776-20009244	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Pathogenic (Oct 7, 2021)	no assertion criteria provided
Select item 12283755.	NM_002381.5(MATN3):c.477C>T (p.Gly159=) GRCh37: Chr2:20205818 GRCh38: Chr2:20006057	MATN3		Multiple epiphyseal dysplasia type 5	Uncertain significance	criteria provided, single submitter
Select item 8986776.	NM_002381.5(MATN3):c.150C>T (p.Arg50=) GRCh37: Chr2:20212243 GRCh38: Chr2:20012482	MATN3		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8986767.	NM_002381.5(MATN3):c.160C>A (p.Pro54Thr) GRCh37: Chr2:20212233 GRCh38: Chr2:20012472	MATN3	P54T	not provided, Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8986758.	NM_002381.5(MATN3):c.180G>T (p.Ala60=) GRCh37: Chr2:20212213 GRCh38: Chr2:20012452	MATN3		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8986749.	NM_002381.5(MATN3):c.185C>T (p.Ala62Val) GRCh37: Chr2:20212208 GRCh38: Chr2:20012447	MATN3	A62V	not provided, Multiple epiphyseal dysplasia type 5	Uncertain significance (Nov 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89867310.	NM_002381.5(MATN3):c.197G>C (p.Ser66Thr) GRCh37: Chr2:20212196 GRCh38: Chr2:20012435	MATN3	S66T	Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89841411.	NM_002381.5(MATN3):c.733G>A (p.Val245Met) GRCh37: Chr2:20205562 GRCh38: Chr2:20005801	MATN3	V245M	not provided, Multiple epiphyseal dysplasia type 5	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 89841312.	NM_002381.5(MATN3):c.762T>G (p.Leu254=) GRCh37: Chr2:20205533 GRCh38: Chr2:20005772	MATN3		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89832913.	NM_002381.5(MATN3):c.1406-8C>T GRCh37: Chr2:20192935 GRCh38: Chr2:19993174	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89832814.	NM_002381.5(MATN3):c.*74G>A GRCh37: Chr2:20192798 GRCh38: Chr2:19993037	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89832715.	NM_002381.5(MATN3):c.*152A>T GRCh37: Chr2:20192720 GRCh38: Chr2:19992959	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89832616.	NM_002381.5(MATN3):c.*211A>C GRCh37: Chr2:20192661 GRCh38: Chr2:19992900	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89731317.	NM_002381.5(MATN3):c.275G>A (p.Arg92His) GRCh37: Chr2:20206020 GRCh38: Chr2:20006259	MATN3	R92H	Multiple epiphyseal dysplasia type 5	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89716518.	NM_002381.5(MATN3):c.*312T>A GRCh37: Chr2:20192560 GRCh38: Chr2:19992799	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89716419.	NM_002381.5(MATN3):c.*749T>G GRCh37: Chr2:20192123 GRCh38: Chr2:19992362	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89716320.	NM_002381.5(MATN3):c.*759C>T GRCh37: Chr2:20192113 GRCh38: Chr2:19992352	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89716221.	NM_002381.5(MATN3):c.*955G>A GRCh37: Chr2:20191917 GRCh38: Chr2:19992156	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89716122.	NM_002381.5(MATN3):c.*989C>G GRCh37: Chr2:20191883 GRCh38: Chr2:19992122	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89716023.	NM_002381.5(MATN3):c.*996A>G GRCh37: Chr2:20191876 GRCh38: Chr2:19992115	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89715924.	NM_002381.5(MATN3):c.*1044A>C GRCh37: Chr2:20191828 GRCh38: Chr2:19992067	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89681925.	NM_002381.5(MATN3):c.304G>T (p.Val102Leu) GRCh37: Chr2:20205991 GRCh38: Chr2:20006230	MATN3	V102L	not provided, Multiple epiphyseal dysplasia type 5	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89681826.	NM_002381.5(MATN3):c.477C>G (p.Gly159=) GRCh37: Chr2:20205818 GRCh38: Chr2:20006057	MATN3		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jun 11, 2017)	criteria provided, single submitter
Select item 89681727.	NM_002381.5(MATN3):c.514G>A (p.Glu172Lys) GRCh37: Chr2:20205781 GRCh38: Chr2:20006020	MATN3	E172K	Multiple epiphyseal dysplasia type 5	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89676128.	NM_002381.5(MATN3):c.822G>A (p.Gln274=) GRCh37: Chr2:20203016 GRCh38: Chr2:20003255	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89676029.	NM_002381.5(MATN3):c.906A>G (p.Lys302=) GRCh37: Chr2:20202932 GRCh38: Chr2:20003171	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89542330.	NM_002381.5(MATN3):c.523A>C (p.Thr175Pro) GRCh37: Chr2:20205772 GRCh38: Chr2:20006011	MATN3	T175P	not provided, Inborn genetic diseases, Multiple epiphyseal dysplasia type 5	Uncertain significance (Dec 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89542231.	NM_002381.5(MATN3):c.524C>A (p.Thr175Lys) GRCh37: Chr2:20205771 GRCh38: Chr2:20006010	MATN3	T175K	Multiple epiphyseal dysplasia type 5	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89535032.	NM_002381.5(MATN3):c.1065T>C (p.Gly355=) GRCh37: Chr2:20200305 GRCh38: Chr2:20000544	MATN3, WDR35-DT		not provided, Multiple epiphyseal dysplasia type 5	Conflicting interpretations of pathogenicity (Apr 29, 2021)	criteria provided, conflicting interpretations
Select item 89534933.	NM_002381.5(MATN3):c.1085T>C (p.Ile362Thr) GRCh37: Chr2:20200285 GRCh38: Chr2:20000524	MATN3, WDR35-DT	I362T	Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89534834.	NM_002381.5(MATN3):c.1114C>A (p.His372Asn) GRCh37: Chr2:20200256 GRCh38: Chr2:20000495	MATN3, WDR35-DT	H372N	Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 80165235.	NM_002381.5(MATN3):c.659T>C (p.Val220Ala) GRCh37: Chr2:20205636 GRCh38: Chr2:20005875	MATN3	V220A	Multiple epiphyseal dysplasia type 5	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 73948236.	NM_002381.5(MATN3):c.90C>T (p.Pro30=) GRCh37: Chr2:20212303 GRCh38: Chr2:20012542	MATN3		not provided, Multiple epiphyseal dysplasia type 5	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 72023737.	NM_002381.5(MATN3):c.223+8C>A GRCh37: Chr2:20212162 GRCh38: Chr2:20012401	MATN3		not provided, Multiple epiphyseal dysplasia type 5	Conflicting interpretations of pathogenicity (Mar 26, 2022)	criteria provided, conflicting interpretations
Select item 70904538.	NM_002381.5(MATN3):c.945C>T (p.His315=) GRCh37: Chr2:20201813 GRCh38: Chr2:20002052	MATN3, WDR35-DT		Connective tissue disorder, not provided, Multiple epiphyseal dysplasia type 5	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63183939.	NM_002381.5(MATN3):c.541C>T (p.Arg181Ter) GRCh37: Chr2:20205754 GRCh38: Chr2:20005993	MATN3	R181*	Multiple epiphyseal dysplasia type 5	Uncertain significance (Oct 31, 2018)	criteria provided, single submitter
Select item 59309940.	NM_002381.5(MATN3):c.526G>T (p.Val176Leu) GRCh37: Chr2:20205769 GRCh38: Chr2:20006008	MATN3	V176L	Connective tissue disorder, not provided, Spondyloepimetaphyseal dysplasia, matrilin-3 type, Multiple epiphyseal dysplasia type 5	Uncertain significance (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56018141.	NM_002381.5(MATN3):c.224-2153_1168+903dup GRCh37: Chr2:20199298-20199299 GRCh38: Chr2:19999537-19999538	WDR35-DT, MATN3		Multiple epiphyseal dysplasia type 5	Likely pathogenic (Jul 3, 2018)	criteria provided, single submitter
Select item 49944542.	NM_002381.5(MATN3):c.832G>A (p.Val278Ile) GRCh37: Chr2:20203006 GRCh38: Chr2:20003245	MATN3, WDR35-DT	V278I	not provided, Multiple epiphyseal dysplasia type 5	Uncertain significance (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33342843.	NM_002381.5(MATN3):c.279C>T (p.Ser93=) GRCh37: Chr2:20206016 GRCh38: Chr2:20006255	MATN3		not provided, Multiple epiphyseal dysplasia type 5	Likely benign (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33342744.	NM_002381.5(MATN3):c.330C>T (p.Ile110=) GRCh37: Chr2:20205965 GRCh38: Chr2:20006204	MATN3		not provided, Multiple epiphyseal dysplasia type 5, Connective tissue disorder	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations
Select item 33342645.	NM_002381.5(MATN3):c.349C>T (p.Pro117Ser) GRCh37: Chr2:20205946 GRCh38: Chr2:20006185	MATN3	P117S	Multiple epiphyseal dysplasia type 5, not provided	Likely benign (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33342546.	NM_002381.5(MATN3):c.354C>T (p.Ala118=) GRCh37: Chr2:20205941 GRCh38: Chr2:20006180	MATN3		Multiple epiphyseal dysplasia type 5, Connective tissue disorder, not provided	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33342347.	NM_002381.5(MATN3):c.664G>A (p.Val222Met) GRCh37: Chr2:20205631 GRCh38: Chr2:20005870	MATN3	V222M	not specified, Multiple epiphyseal dysplasia type 5	Conflicting interpretations of pathogenicity (Jan 1, 2019)	criteria provided, conflicting interpretations
Select item 33342248.	NM_002381.5(MATN3):c.671G>A (p.Arg224Gln) GRCh37: Chr2:20205624 GRCh38: Chr2:20005863	MATN3	R224Q	not provided, Multiple epiphyseal dysplasia type 5, Connective tissue disorder	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33341149.	NM_002381.5(MATN3):c.*44C>G GRCh37: Chr2:20192828 GRCh38: Chr2:19993067	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33341050.	NM_002381.5(MATN3):c.*176C>T GRCh37: Chr2:20192696 GRCh38: Chr2:19992935	MATN3, WDR35, WDR35-DT		Multiple Epiphyseal Dysplasia, Dominant, not provided, Multiple epiphyseal dysplasia type 5, Short rib-polydactyly syndrome, Cranioectodermal dysplasia	Benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33340951.	NM_002381.5(MATN3):c.*660G>A GRCh37: Chr2:20192212 GRCh38: Chr2:19992451	MATN3, WDR35-DT		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 28787152.	NM_002381.5(MATN3):c.187T>G (p.Ser63Ala) GRCh37: Chr2:20212206 GRCh38: Chr2:20012445	MATN3	S63A	Connective tissue disorder, not provided, not specified, Multiple epiphyseal dysplasia type 5	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28382853.	NM_002381.5(MATN3):c.1171C>T (p.Arg391Cys) GRCh37: Chr2:20197018 GRCh38: Chr2:19997257	MATN3, WDR35-DT	R391C	not provided, Multiple epiphyseal dysplasia type 5, not specified	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28360254.	NM_002381.5(MATN3):c.62T>G (p.Leu21Arg) GRCh37: Chr2:20212331 GRCh38: Chr2:20012570	MATN3	L21R	Inborn genetic diseases, not specified, not provided, Multiple epiphyseal dysplasia type 5	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 25864955.	NM_002381.5(MATN3):c.909G>A (p.Thr303=) GRCh37: Chr2:20202929 GRCh38: Chr2:20003168	MATN3, WDR35-DT		not specified, Multiple epiphyseal dysplasia type 5, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25864856.	NM_002381.5(MATN3):c.754G>A (p.Glu252Lys) GRCh37: Chr2:20205541 GRCh38: Chr2:20005780	MATN3	E252K	not specified, Multiple epiphyseal dysplasia type 5, Connective tissue disorder, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25864757.	NM_002381.5(MATN3):c.1406-4C>T GRCh37: Chr2:20192931 GRCh38: Chr2:19993170	MATN3, WDR35, WDR35-DT		Short rib-polydactyly syndrome, not specified, Cranioectodermal dysplasia, Multiple Epiphyseal Dysplasia, Dominant, not provided, Multiple epiphyseal dysplasia type 5	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19814858.	NM_002381.5(MATN3):c.1169-10G>A GRCh37: Chr2:20197030 GRCh38: Chr2:19997269	WDR35-DT, MATN3		Connective tissue disorder, not specified, not provided, Multiple epiphyseal dysplasia type 5	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19634159.	NM_002381.5(MATN3):c.792G>A (p.Ala264=) GRCh37: Chr2:20203046 GRCh38: Chr2:20003285	MATN3, WDR35-DT		not provided, Multiple epiphyseal dysplasia type 5	Conflicting interpretations of pathogenicity (Mar 2, 2022)	criteria provided, conflicting interpretations
Select item 19517060.	NM_002381.5(MATN3):c.615G>A (p.Glu205=) GRCh37: Chr2:20205680 GRCh38: Chr2:20005919	MATN3		not specified, not provided, Multiple epiphyseal dysplasia type 5	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19516961.	NM_002381.5(MATN3):c.447C>T (p.Ala149=) GRCh37: Chr2:20205848 GRCh38: Chr2:20006087	MATN3		not specified, not provided, Multiple epiphyseal dysplasia type 5	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6566462.	NM_002381.5(MATN3):c.359C>T (p.Thr120Met) GRCh37: Chr2:20205936 GRCh38: Chr2:20006175	MATN3	T120M	Multiple epiphyseal dysplasia type 5, Spondyloepimetaphyseal dysplasia, matrilin-3 type, not provided	Pathogenic/Likely pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 754663.	NM_002381.5(MATN3):c.382G>C (p.Ala128Pro) GRCh37: Chr2:20205913 GRCh38: Chr2:20006152	MATN3	A128P	Multiple epiphyseal dysplasia type 5	Pathogenic (Aug 1, 2003)	no assertion criteria provided
Select item 754564.	NM_002381.5(MATN3):c.209G>A (p.Arg70His) GRCh37: Chr2:20212184 GRCh38: Chr2:20012423	MATN3	R70H	not provided, Multiple epiphyseal dysplasia type 5	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 754365.	NM_002381.5(MATN3):c.656C>A (p.Ala219Asp) GRCh37: Chr2:20205639 GRCh38: Chr2:20005878	MATN3	A219D	Multiple epiphyseal dysplasia type 5	Pathogenic (Jan 1, 2004)	no assertion criteria provided
Select item 754266.	NM_002381.5(MATN3):c.908C>T (p.Thr303Met) GRCh37: Chr2:20202930 GRCh38: Chr2:20003169	MATN3, WDR35-DT	T303M	Connective tissue disorder, not specified, not provided, Multiple epiphyseal dysplasia type 5	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 754167.	NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) GRCh37: Chr2:20205934 GRCh38: Chr2:20006173	MATN3	R121W	not provided, Multiple epiphyseal dysplasia type 5	Pathogenic/Likely pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 754068.	NM_002381.5(MATN3):c.581T>A (p.Val194Asp) GRCh37: Chr2:20205714 GRCh38: Chr2:20005953	MATN3	V194D	Multiple epiphyseal dysplasia type 5	Pathogenic (Aug 1, 2001)	no assertion criteria provided

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 68