ClinVar for MedGen (Select 767329) - ClinVar

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Items: 66

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25852291.	NM_004826.4(ECEL1):c.38del (p.Glu13fs) GRCh37: Chr2:233351326 GRCh38: Chr2:232486616	ECEL1	E13fs	Distal arthrogryposis type 5D	Likely pathogenic	criteria provided, single submitter
Select item 25723952.	NM_004826.4(ECEL1):c.1702C>T (p.Gln568Ter) GRCh37: Chr2:233347302 GRCh38: Chr2:232482592	ECEL1	Q566, Q568	Distal arthrogryposis type 5D	Pathogenic	criteria provided, single submitter
Select item 25063763.	NM_004826.4(ECEL1):c.398_410del (p.Gly133fs) GRCh37: Chr2:233350954-233350966 GRCh38: Chr2:232486244-232486256	ECEL1	G133fs	Distal arthrogryposis type 5D	Likely pathogenic (Jun 15, 2023)	criteria provided, single submitter
Select item 25063684.	NM_004826.4(ECEL1):c.1685+1G>A GRCh37: Chr2:233347560 GRCh38: Chr2:232482850	ECEL1		Distal arthrogryposis type 5D	Pathogenic (Jun 15, 2023)	criteria provided, single submitter
Select item 25063625.	NM_004826.4(ECEL1):c.1059+1G>A GRCh37: Chr2:233349510 GRCh38: Chr2:232484800	ECEL1		Distal arthrogryposis type 5D	Pathogenic (Jun 15, 2023)	criteria provided, single submitter
Select item 25063576.	NM_004826.4(ECEL1):c.1151A>C (p.Gln384Pro) GRCh37: Chr2:233349215 GRCh38: Chr2:232484505	ECEL1	Q384P	Distal arthrogryposis type 5D	Likely pathogenic (Jun 15, 2023)	criteria provided, single submitter
Select item 25002957.	NM_004826.4(ECEL1):c.1253G>A (p.Arg418His) GRCh37: Chr2:233348865 GRCh38: Chr2:232484155	ECEL1	R418H	Distal arthrogryposis type 5D	Uncertain significance (Mar 9, 2023)	criteria provided, single submitter
Select item 24441898.	NM_004826.4(ECEL1):c.1042del (p.Gln348fs) GRCh37: Chr2:233349528 GRCh38: Chr2:232484818	ECEL1	Q348fs	Distal arthrogryposis type 5D	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24411739.	NM_004826.4(ECEL1):c.2279G>T (p.Cys760Phe) GRCh37: Chr2:233344912 GRCh38: Chr2:232480202	ECEL1	C758F, C760F	Distal arthrogryposis type 5D	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 244117110.	NM_004826.4(ECEL1):c.98T>A (p.Leu33Gln) GRCh37: Chr2:233351266 GRCh38: Chr2:232486556	ECEL1	L33Q	Distal arthrogryposis type 5D	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 244117011.	NM_004826.4(ECEL1):c.1477G>A (p.Ala493Thr) GRCh37: Chr2:233348155 GRCh38: Chr2:232483445	ECEL1	A493T	Distal arthrogryposis type 5D	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 244116912.	NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg) GRCh37: Chr2:233350997 GRCh38: Chr2:232486287	ECEL1	C123R	Distal arthrogryposis type 5D	Uncertain significance (Feb 8, 2021)	criteria provided, single submitter
Select item 242866713.	NM_004826.4(ECEL1):c.1779C>G (p.Tyr593Ter) GRCh37: Chr2:233347145 GRCh38: Chr2:232482435	ECEL1	Y591, Y593	Distal arthrogryposis type 5D	Likely pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 241277914.	NM_004826.4(ECEL1):c.1369T>G (p.Phe457Val) GRCh37: Chr2:233348749 GRCh38: Chr2:232484039	ECEL1	F457V	Distal arthrogryposis type 5D	Likely pathogenic (Apr 22, 2021)	criteria provided, single submitter
Select item 225636115.	NM_004826.4(ECEL1):c.2320G>A (p.Val774Met) GRCh37: Chr2:233344871 GRCh38: Chr2:232480161	ECEL1	V774M, V772M	Inborn genetic diseases, Distal arthrogryposis type 5D	Uncertain significance (Oct 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 180607616.	NM_004826.4(ECEL1):c.1531G>A (p.Gly511Ser) GRCh37: Chr2:233347865 GRCh38: Chr2:232483155	ECEL1	G511S	Distal arthrogryposis type 5D	Conflicting interpretations of pathogenicity (Mar 9, 2023)	criteria provided, conflicting interpretations
Select item 180604017.	NM_004826.4(ECEL1):c.2151+2T>C GRCh37: Chr2:233345426 GRCh38: Chr2:232480716	ECEL1		Distal arthrogryposis type 5D	Likely pathogenic (May 4, 2020)	criteria provided, single submitter
Select item 180554618.	NM_004826.4(ECEL1):c.1907C>T (p.Thr636Met) GRCh37: Chr2:233346298 GRCh38: Chr2:232481588	ECEL1	T634M, T636M	Distal arthrogryposis type 5D	Likely pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 180319619.	NM_004826.4(ECEL1):c.2069G>A (p.Trp690Ter) GRCh37: Chr2:233345510 GRCh38: Chr2:232480800	ECEL1	W688, W690	Distal arthrogryposis type 5D	Pathogenic (Nov 17, 2021)	criteria provided, single submitter
Select item 170660120.	NM_004826.4(ECEL1):c.1672del (p.Val558fs) GRCh37: Chr2:233347574 GRCh38: Chr2:232482864	ECEL1	V558fs	Distal arthrogryposis type 5D	Pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 170556921.	NM_004826.4(ECEL1):c.1810G>A (p.Gly604Arg) GRCh37: Chr2:233346546 GRCh38: Chr2:232481836	ECEL1	G602R, G604R	Distal arthrogryposis type 5D	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 170543222.	NM_004826.4(ECEL1):c.1199A>C (p.Tyr400Ser) GRCh37: Chr2:233348919 GRCh38: Chr2:232484209	ECEL1	Y400S	Distal arthrogryposis type 5D	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 168724323.	NM_004826.4(ECEL1):c.80del (p.Gly27fs) GRCh37: Chr2:233351284 GRCh38: Chr2:232486574	ECEL1	G27fs	Distal arthrogryposis type 5D	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168575924.	NM_004826.4(ECEL1):c.557C>G (p.Ser186Trp) GRCh37: Chr2:233350807 GRCh38: Chr2:232486097	ECEL1	S186W	Distal arthrogryposis type 5D	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168575725.	NM_004826.4(ECEL1):c.1211G>A (p.Arg404His) GRCh37: Chr2:233348907 GRCh38: Chr2:232484197	ECEL1	R404H	Distal arthrogryposis type 5D, See cases	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 167932726.	NM_004826.4(ECEL1):c.870C>A (p.Tyr290Ter) GRCh37: Chr2:233349787 GRCh38: Chr2:232485077	ECEL1	Y290*	Distal arthrogryposis type 5D	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 133392627.	NM_004826.4(ECEL1):c.100C>T (p.Pro34Ser) GRCh37: Chr2:233351264 GRCh38: Chr2:232486554	ECEL1	P34S	Inborn genetic diseases, Distal arthrogryposis type 5D	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125536528.	NM_004826.4(ECEL1):c.2229-29A>C GRCh37: Chr2:233344991 GRCh38: Chr2:232480281	ECEL1		not provided, Distal arthrogryposis type 5D	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125001529.	NM_004826.4(ECEL1):c.1507-30G>C GRCh37: Chr2:233347919 GRCh38: Chr2:232483209	ECEL1		Distal arthrogryposis type 5D, not provided	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124166230.	NM_004826.4(ECEL1):c.787-23G>C GRCh37: Chr2:233350000 GRCh38: Chr2:232485290	ECEL1		Distal arthrogryposis type 5D, not provided	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104879431.	NM_004826.4(ECEL1):c.2151+1G>T GRCh37: Chr2:233345427 GRCh38: Chr2:232480717	ECEL1		Distal arthrogryposis type 5D	Pathogenic (Feb 1, 2021)	criteria provided, single submitter
Select item 103084632.	NM_004826.4(ECEL1):c.512G>C (p.Gly171Ala) GRCh37: Chr2:233350852 GRCh38: Chr2:232486142	ECEL1	G171A	Distal arthrogryposis type 5D, Inborn genetic diseases	Uncertain significance (Jan 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 81682733.	NM_004826.4(ECEL1):c.1147C>T (p.Gln383Ter) GRCh37: Chr2:233349219 GRCh38: Chr2:232484509	ECEL1	Q383*	Distal arthrogryposis type 5D	Pathogenic	no assertion criteria provided
Select item 81682634.	NM_004826.4(ECEL1):c.1916C>T (p.Ser639Phe) GRCh37: Chr2:233346289 GRCh38: Chr2:232481579	ECEL1	S637F, S639F	Distal arthrogryposis type 5D	Uncertain significance	no assertion criteria provided
Select item 81682535.	NM_004826.4(ECEL1):c.1581+1G>A GRCh37: Chr2:233347814 GRCh38: Chr2:232483104	ECEL1		Distal arthrogryposis type 5D	Pathogenic	no assertion criteria provided
Select item 81680136.	NM_004826.4(ECEL1):c.1630C>T (p.Arg544Cys) GRCh37: Chr2:233347616 GRCh38: Chr2:232482906	ECEL1	R544C	not provided	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 81679937.	NM_004826.4(ECEL1):c.505_529del (p.Gly169fs) GRCh37: Chr2:233350835-233350859 GRCh38: Chr2:232486125-232486149	ECEL1	G169fs	Distal arthrogryposis type 5D	Pathogenic	no assertion criteria provided
Select item 73121038.	NM_004826.4(ECEL1):c.411C>T (p.Arg137=) GRCh37: Chr2:233350953 GRCh38: Chr2:232486243	ECEL1		Distal arthrogryposis type 5D, not provided	Benign/Likely benign (Apr 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59902039.	NM_004826.4(ECEL1):c.1990-3C>G GRCh37: Chr2:233345869 GRCh38: Chr2:232481159	ECEL1		Distal arthrogryposis type 5D	Likely pathogenic	no assertion criteria provided
Select item 59092240.	NM_004826.4(ECEL1):c.1A>G (p.Met1Val) GRCh37: Chr2:233351363 GRCh38: Chr2:232486653	ECEL1	M1V	Distal arthrogryposis type 5D	Likely pathogenic	no assertion criteria provided
Select item 52105641.	NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro) GRCh37: Chr2:233350870 GRCh38: Chr2:232486160	ECEL1	L165P	Arthrogryposis multiplex congenita, Inborn genetic diseases, not provided, Distal arthrogryposis type 5D	Conflicting interpretations of pathogenicity (Nov 14, 2023)	criteria provided, conflicting interpretations
Select item 48849542.	NM_004826.4(ECEL1):c.2151+2T>A GRCh37: Chr2:233345426 GRCh38: Chr2:232480716	ECEL1		Distal arthrogryposis type 5D	Pathogenic (Nov 16, 2017)	criteria provided, single submitter
Select item 43502443.	NM_004826.4(ECEL1):c.110_155del (p.Phe37fs) GRCh37: Chr2:233351209-233351254 GRCh38: Chr2:232486499-232486544	ECEL1	F37fs	Inborn genetic diseases, not provided, Distal arthrogryposis type 5D	Pathogenic (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43502344.	NM_004826.4(ECEL1):c.509del (p.Gly170fs) GRCh37: Chr2:233350855 GRCh38: Chr2:232486145	ECEL1	G170fs	Distal arthrogryposis type 5D	Pathogenic (Dec 22, 2017)	criteria provided, multiple submitters, no conflicts
Select item 43502245.	NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys) GRCh37: Chr2:233348909 GRCh38: Chr2:232484199	ECEL1	W403C	Distal arthrogryposis type 5D	Likely pathogenic (Sep 13, 2016)	criteria provided, multiple submitters, no conflicts
Select item 43502146.	NM_004826.4(ECEL1):c.1797-8G>A GRCh37: Chr2:233346567 GRCh38: Chr2:232481857	ECEL1		Distal arthrogryposis type 5D	Likely pathogenic (Jan 5, 2016)	criteria provided, single submitter
Select item 37430547.	NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) GRCh37: Chr2:233348162 GRCh38: Chr2:232483452	ECEL1	W490*	Distal arthrogryposis type 5D, not provided, See cases	Pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24240348.	NM_004826.4(ECEL1):c.869A>G (p.Tyr290Cys) GRCh37: Chr2:233349788 GRCh38: Chr2:232485078	ECEL1	Y290C	Distal arthrogryposis type 5D	Pathogenic (Jan 8, 2013)	no assertion criteria provided
Select item 24240249.	NM_004826.4(ECEL1):c.797_801delinsGCT (p.Asp266fs) GRCh37: Chr2:233349963-233349967 GRCh38: Chr2:232485253-232485257	ECEL1	D266fs	Distal arthrogryposis type 5D	Pathogenic (Jan 8, 2013)	no assertion criteria provided
Select item 23582150.	NM_004826.3(ECEL1):c.[344_355delACCTGGACGCCA;716dupA] GRCh37: Chr2:233350647-233350648 Chr2:233351009-233351020 GRCh38: Chr2:232485937-232485938 Chr2:232486299-232486310	ECEL1, ECEL1	Y239*	Distal arthrogryposis type 5D	Pathogenic (Jan 8, 2013)	criteria provided, single submitter
Select item 23581951.	NM_004826.4(ECEL1):c.1184G>A (p.Arg395Gln) GRCh37: Chr2:233349182 GRCh38: Chr2:232484472	ECEL1	R395Q	Distal arthrogryposis type 5D	Pathogenic (Jan 8, 2013)	criteria provided, single submitter
Select item 23581852.	NM_004826.3(ECEL1):c.[1184+3A>T;1252C>A] GRCh37: Chr2:233348866 Chr2:233349179 GRCh38: Chr2:232484156 Chr2:232484469	ECEL1, ECEL1	R418S	Distal arthrogryposis type 5D	Pathogenic (Jan 8, 2013)	criteria provided, single submitter
Select item 23581753.	NM_004826.3(ECEL1):c.[1252C>T;590G>A] GRCh37: Chr2:233348866 Chr2:233350774 GRCh38: Chr2:232484156 Chr2:232486064	ECEL1, ECEL1	R418C, G197D	Distal arthrogryposis type 5D	Pathogenic (Jan 8, 2013)	criteria provided, single submitter
Select item 21091054.	NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter) GRCh37: Chr2:233349573 GRCh38: Chr2:232484863	ECEL1	R333*	not provided, Distal arthrogryposis type 5D, See cases	Pathogenic (May 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19115255.	NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) GRCh37: Chr2:233348908 GRCh38: Chr2:232484198	ECEL1	R404C	not provided, Distal arthrogryposis type 5D	Conflicting interpretations of pathogenicity (May 13, 2020)	criteria provided, conflicting interpretations
Select item 16145156.	NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr) GRCh37: Chr2:233345833 GRCh38: Chr2:232481123	ECEL1	A675T, A673T	not provided, Distal arthrogryposis type 5D	Pathogenic/Likely pathogenic (Mar 3, 2020)	criteria provided, multiple submitters, no conflicts
Select item 12895757.	NM_004826.4(ECEL1):c.982C>T (p.His328Tyr) GRCh37: Chr2:233349588 GRCh38: Chr2:232484878	ECEL1	H328Y	not specified, not provided, Distal arthrogryposis type 5D	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10065258.	NM_004826.4(ECEL1):c.1685+1G>T GRCh37: Chr2:233347560 GRCh38: Chr2:232482850	ECEL1		Distal arthrogryposis type 5D	Pathogenic (Apr 15, 2013)	no assertion criteria provided
Select item 10065159.	NM_004826.4(ECEL1):c.1649C>G (p.Ser550Ter) GRCh37: Chr2:233347597 GRCh38: Chr2:232482887	ECEL1	S550*	Distal arthrogryposis type 5D	Pathogenic (Apr 15, 2013)	no assertion criteria provided
Select item 10065060.	NM_004826.4(ECEL1):c.2278T>C (p.Cys760Arg) GRCh37: Chr2:233344913 GRCh38: Chr2:232480203	ECEL1	C760R, C758R	Distal arthrogryposis type 5D	Pathogenic (Apr 15, 2013)	no assertion criteria provided
Select item 3949361.	NM_004826.4(ECEL1):c.590G>A (p.Gly197Asp) GRCh37: Chr2:233350774 GRCh38: Chr2:232486064	ECEL1	G197D	not provided	Uncertain significance (Oct 31, 2019)	criteria provided, single submitter
Select item 3949262.	NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys) GRCh37: Chr2:233348866 GRCh38: Chr2:232484156	ECEL1	R418C	Distal arthrogryposis type 5D	Pathogenic (Jan 10, 2013)	no assertion criteria provided
Select item 3949163.	NM_004826.4(ECEL1):c.1184+3A>T GRCh37: Chr2:233349179 GRCh38: Chr2:232484469	ECEL1		Distal arthrogryposis type 5D	Pathogenic (Jan 10, 2013)	no assertion criteria provided
Select item 3949064.	NM_004826.4(ECEL1):c.1252C>A (p.Arg418Ser) GRCh37: Chr2:233348866 GRCh38: Chr2:232484156	ECEL1	R418S	Distal arthrogryposis type 5D	Pathogenic (Jan 10, 2013)	no assertion criteria provided
Select item 3948965.	NM_004826.4(ECEL1):c.344_355del (p.Asn115_Ala118del) GRCh37: Chr2:233351009-233351020 GRCh38: Chr2:232486299-232486310	ECEL1		Distal arthrogryposis type 5D	Pathogenic (Jan 10, 2013)	no assertion criteria provided
Select item 3948866.	NM_004826.4(ECEL1):c.716dup (p.Tyr239Ter) GRCh37: Chr2:233350647-233350648 GRCh38: Chr2:232485937-232485938	ECEL1	Y239*	Distal arthrogryposis type 5D	Pathogenic (Jan 8, 2013)	criteria provided, multiple submitters, no conflicts

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Items: 66