DES[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar

Search results

Items: 96

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 3889261.	NM_001927.4(DES):c.1A>G (p.Met1Val) GRCh37: Chr2:220283185 GRCh38: Chr2:219418463	DES	M1V	Desmin-related myofibrillar myopathy, not provided	Likely pathogenic (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10664702.	NM_001927.4(DES):c.2T>C (p.Met1Thr) GRCh37: Chr2:220283186 GRCh38: Chr2:219418464	DES	M1T	Desmin-related myofibrillar myopathy	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 8362013.	NM_001927.4(DES):c.7C>T (p.Gln3Ter) GRCh37: Chr2:220283191 GRCh38: Chr2:219418469	DES	Q3*	Desmin-related myofibrillar myopathy	Pathogenic (Jan 26, 2019)	criteria provided, single submitter
Select item 664124.	NM_001927.4(DES):c.35C>T (p.Ser12Phe) GRCh37: Chr2:220283219 GRCh38: Chr2:219418497	DES	S12F	not provided, Primary dilated cardiomyopathy, Neuromuscular disease, Desmin-related myofibrillar myopathy	Pathogenic/Likely pathogenic (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 442605.	NM_001927.4(DES):c.38C>T (p.Ser13Phe) GRCh37: Chr2:220283222 GRCh38: Chr2:219418500	DES	S13F	Desmin-related myofibrillar myopathy, not provided, Primary dilated cardiomyopathy	Pathogenic (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 664136.	NM_001927.4(DES):c.46C>T (p.Arg16Cys) GRCh37: Chr2:220283230 GRCh38: Chr2:219418508	DES	R16C	Myofibrillar myopathy	Pathogenic (Aug 16, 2016)	no assertion criteria provided
Select item 14535007.	NM_001927.4(DES):c.112del (p.Ala38fs) GRCh37: Chr2:220283294 GRCh38: Chr2:219418572	DES	A38fs	Desmin-related myofibrillar myopathy	Pathogenic (Jul 30, 2021)	criteria provided, single submitter
Select item 4210438.	NM_001927.4(DES):c.130G>A (p.Gly44Ser) GRCh37: Chr2:220283314 GRCh38: Chr2:219418592	DES	G44S	not provided	Likely pathogenic (May 2, 2016)	criteria provided, single submitter
Select item 664059.	NM_001927.4(DES):c.137C>A (p.Ser46Tyr) GRCh37: Chr2:220283321 GRCh38: Chr2:219418599	DES	S46Y	not provided	Likely pathogenic (Oct 4, 2021)	criteria provided, single submitter
Select item 107524210.	NM_001927.4(DES):c.194dup (p.Leu66fs) GRCh37: Chr2:220283373-220283374 GRCh38: Chr2:219418651-219418652	DES	L66fs	Desmin-related myofibrillar myopathy	Pathogenic (Feb 3, 2020)	criteria provided, single submitter
Select item 64362411.	NM_001927.4(DES):c.226del (p.Thr76fs) GRCh37: Chr2:220283410 GRCh38: Chr2:219418688	DES	T76fs	Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy	Pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83689112.	NM_001927.4(DES):c.254_255insT (p.Gly86fs) GRCh37: Chr2:220283438-220283439 GRCh38: Chr2:219418716-219418717	DES	G86fs	Desmin-related myofibrillar myopathy, not provided	Pathogenic/Likely pathogenic (Dec 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 213227613.	NM_001927.4(DES):c.300dup (p.Phe101fs) GRCh37: Chr2:220283483-220283484 GRCh38: Chr2:219418761-219418762	DES	F101fs	Desmin-related myofibrillar myopathy	Pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 107334814.	NM_001927.4(DES):c.309del (p.Thr104fs) GRCh37: Chr2:220283492 GRCh38: Chr2:219418770	DES	T104fs	Desmin-related myofibrillar myopathy	Pathogenic (Jan 13, 2020)	criteria provided, single submitter
Select item 80473715.	NM_001927.4(DES):c.322G>T (p.Glu108Ter) GRCh37: Chr2:220283506 GRCh38: Chr2:219418784	DES	E108*	Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, not provided	Pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54844516.	NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del) GRCh37: Chr2:220283514-220283522 GRCh38: Chr2:219418792-219418800	DES		Desmin-related myofibrillar myopathy	Pathogenic (Oct 11, 2016)	no assertion criteria provided
Select item 216950717.	NM_001927.4(DES):c.343C>A (p.Leu115Ile) GRCh37: Chr2:220283527 GRCh38: Chr2:219418805	DES	L115I	Desmin-related myofibrillar myopathy	Pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 217110418.	NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer) GRCh37: Chr2:220283530-220283534 GRCh38: Chr2:219418808-219418812	DES		Desmin-related myofibrillar myopathy	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 6641119.	NM_001927.4(DES):c.347A>G (p.Asn116Ser) GRCh37: Chr2:220283531 GRCh38: Chr2:219418809	DES	N116S	Desmin-related myofibrillar myopathy	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20172120.	NM_001927.4(DES):c.364T>G (p.Tyr122Asp) GRCh37: Chr2:220283548 GRCh38: Chr2:219418826	DES	Y122D	not provided	Likely pathogenic (May 8, 2014)	criteria provided, single submitter
Select item 28500721.	NM_001927.4(DES):c.373A>T (p.Lys125Ter) GRCh37: Chr2:220283557 GRCh38: Chr2:219418835	DES	K125*	not provided, Desmin-related myofibrillar myopathy	Pathogenic (Feb 24, 2020)	criteria provided, multiple submitters, no conflicts
Select item 97718022.	NM_001927.4(DES):c.376G>A (p.Val126Met) GRCh37: Chr2:220283560 GRCh38: Chr2:219418838	DES	V126M	Primary dilated cardiomyopathy	Likely pathogenic (Apr 2, 2020)	no assertion criteria provided
Select item 41112423.	NM_001927.4(DES):c.394C>T (p.Gln132Ter) GRCh37: Chr2:220283578 GRCh38: Chr2:219418856	DES	Q132*	Desmin-related myofibrillar myopathy	Pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 26581124.	NM_001927.4(DES):c.407T>C (p.Leu136Pro) GRCh37: Chr2:220283591 GRCh38: Chr2:219418869	DES	L136P	not provided, Dilated cardiomyopathy 1S	Likely pathogenic (May 1, 2016)	no assertion criteria provided
Select item 107529725.	NM_001927.4(DES):c.452_459del (p.Val151fs) GRCh37: Chr2:220283632-220283639 GRCh38: Chr2:219418910-219418917	DES	V151fs	Desmin-related myofibrillar myopathy	Pathogenic (Mar 6, 2020)	criteria provided, single submitter
Select item 26581726.	NM_001927.4(DES):c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) GRCh37: Chr2:220283677-220283704 GRCh38: Chr2:219418955-219418982	DES		Dilated cardiomyopathy 1S	Pathogenic (May 1, 2016)	no assertion criteria provided
Select item 57535527.	NM_001927.4(DES):c.514C>T (p.Gln172Ter) GRCh37: Chr2:220283698 GRCh38: Chr2:219418976	DES	Q172*	Desmin-related myofibrillar myopathy	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 209163728.	NM_001927.4(DES):c.525_526dup (p.Val176fs) GRCh37: Chr2:220283699-220283700 GRCh38: Chr2:219418977-219418978	DES	V176fs	Desmin-related myofibrillar myopathy	Pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 1682329.	NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) GRCh37: Chr2:220283699-220283719 GRCh38: Chr2:219418977-219418997	DES		Desmin-related myofibrillar myopathy	Pathogenic (Jun 1, 2009)	no assertion criteria provided
Select item 106949730.	NM_001927.4(DES):c.525_526del (p.Val176fs) GRCh37: Chr2:220283700-220283701 GRCh38: Chr2:219418978-219418979	DES	V176fs	Desmin-related myofibrillar myopathy	Pathogenic (Jun 11, 2018)	criteria provided, single submitter
Select item 142577831.	NM_001927.4(DES):c.599T>A (p.Leu200Ter) GRCh37: Chr2:220284837 GRCh38: Chr2:219420115	DES	L200*	Desmin-related myofibrillar myopathy	Pathogenic (Jul 26, 2021)	criteria provided, single submitter
Select item 17866032.	NM_001927.4(DES):c.600del (p.Lys201fs) GRCh37: Chr2:220284838 GRCh38: Chr2:219420116	DES	K201fs	Neuromuscular disease, Primary dilated cardiomyopathy, Desmin-related myofibrillar myopathy	Pathogenic/Likely pathogenic (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 243969833.	NM_001927.4(DES):c.604del (p.Glu202fs) GRCh37: Chr2:220284841 GRCh38: Chr2:219420119	DES	E202fs	not provided	Likely pathogenic (Jan 3, 2023)	criteria provided, single submitter
Select item 20172234.	NM_001927.4(DES):c.634C>T (p.Arg212Ter) GRCh37: Chr2:220284872 GRCh38: Chr2:219420150	DES	R212*	Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, not provided	Pathogenic/Likely pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18020635.	NM_001927.4(DES):c.639+4_639+5del GRCh37: Chr2:220284880-220284881 GRCh38: Chr2:219420158-219420159	DES		Desmin-related myofibrillar myopathy	Pathogenic (Nov 19, 2014)	no assertion criteria provided
Select item 6641536.	NM_001927.4(DES):c.640-1G>A GRCh37: Chr2:220284972 GRCh38: Chr2:219420250	DES		Desmin-related myofibrillar myopathy	Pathogenic (Nov 1, 2000)	no assertion criteria provided
Select item 133410137.	NM_001927.4(DES):c.700G>T (p.Glu234Ter) GRCh37: Chr2:220285033 GRCh38: Chr2:219420311	DES	E233, E234	Desmin-related myofibrillar myopathy	Pathogenic (Jan 12, 2022)	criteria provided, single submitter
Select item 132220338.	NM_001927.4(DES):c.720_722del (p.Lys241del) GRCh37: Chr2:220285051-220285053 GRCh38: Chr2:219420329-219420331	DES	K240del, K241del	Desmin-related myofibrillar myopathy	Pathogenic (Mar 15, 2003)	no assertion criteria provided
Select item 211035239.	NM_001927.4(DES):c.732_735+3del GRCh37: Chr2:220285064-220285070 GRCh38: Chr2:219420342-219420348	DES		Desmin-related myofibrillar myopathy	Likely pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 6642040.	NM_001927.4(DES):c.735G>C (p.Glu245Asp) GRCh37: Chr2:220285068 GRCh38: Chr2:219420346	DES	E245D	not provided, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I	Pathogenic/Likely pathogenic (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57801641.	NM_001927.4(DES):c.735+1G>T GRCh37: Chr2:220285069 GRCh38: Chr2:219420347	DES		Desmin-related myofibrillar myopathy	Pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 16302742.	NM_001927.4(DES):c.735+1G>C GRCh37: Chr2:220285069 GRCh38: Chr2:219420347	DES		Desmin-related myofibrillar myopathy	Likely pathogenic (Mar 5, 2014)	criteria provided, single submitter
Select item 4426843.	NM_001927.4(DES):c.735+1G>A GRCh37: Chr2:220285069 GRCh38: Chr2:219420347	DES		Desmin-related myofibrillar myopathy, not provided	Pathogenic/Likely pathogenic (May 20, 2019)	criteria provided, multiple submitters, no conflicts
Select item 243969444.	NM_001927.4(DES):c.735+2T>C GRCh37: Chr2:220285070 GRCh38: Chr2:219420348	DES		not provided	Likely pathogenic (Dec 9, 2022)	criteria provided, single submitter
Select item 170561945.	NM_001927.4(DES):c.735+2T>G GRCh37: Chr2:220285070 GRCh38: Chr2:219420348	DES		Desmin-related myofibrillar myopathy	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 6641946.	NM_001927.4(DES):c.735+3A>G GRCh37: Chr2:220285071 GRCh38: Chr2:219420349	DES		Primary dilated cardiomyopathy, Desmin-related myofibrillar myopathy, not provided, Desmin-related myofibrillar myopathy, Cardiovascular phenotype	Pathogenic (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132804647.	NM_001927.4(DES):c.816dup (p.Ala273fs) GRCh37: Chr2:220285295-220285296 GRCh38: Chr2:219420573-219420574	DES	A183fs, A272fs, A273fs	not provided	Likely pathogenic	no assertion criteria provided
Select item 107118448.	NM_001927.4(DES):c.885G>A (p.Trp295Ter) GRCh37: Chr2:220285366 GRCh38: Chr2:219420644	DES	W294, W295, W205*	not provided, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I	Pathogenic/Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132923549.	NM_001927.4(DES):c.948_952del (p.Lys318fs) GRCh37: Chr2:220285596-220285600 GRCh38: Chr2:219420874-219420878	DES	K228fs, K317fs, K318fs	Cardiomyopathy	Likely pathogenic (Jun 9, 2020)	criteria provided, single submitter
Select item 87213750.	NM_001927.4(DES):c.973C>T (p.Arg325Ter) GRCh37: Chr2:220285625 GRCh38: Chr2:219420903	DES	R325*	Desmin-related myofibrillar myopathy, not provided	Pathogenic/Likely pathogenic (Oct 12, 2020)	criteria provided, multiple submitters, no conflicts
Select item 1682051.	NM_001927.4(DES):c.1009G>C (p.Ala337Pro) GRCh37: Chr2:220285661 GRCh38: Chr2:219420939	DES	A337P	Dilated cardiomyopathy 1I	Pathogenic (Nov 18, 2019)	criteria provided, single submitter
Select item 23907152.	NM_001927.4(DES):c.1013T>C (p.Leu338Pro) GRCh37: Chr2:220285665 GRCh38: Chr2:219420943	DES	L338P	Desmin-related myofibrillar myopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 6638753.	NM_001927.4(DES):c.1013T>G (p.Leu338Arg) GRCh37: Chr2:220285665 GRCh38: Chr2:219420943	DES	L338R	Desmin-related myofibrillar myopathy, not provided	Pathogenic/Likely pathogenic (Jan 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6638854.	NM_001927.4(DES):c.1024A>G (p.Asn342Asp) GRCh37: Chr2:220286062 GRCh38: Chr2:219421340	DES	N342D	Desmin-related myofibrillar myopathy	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 83806655.	NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup) GRCh37: Chr2:220286063-220286064 GRCh38: Chr2:219421341-219421342	DES		Desmin-related myofibrillar myopathy	Likely pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 1682556.	NM_001927.4(DES):c.1034T>C (p.Leu345Pro) GRCh37: Chr2:220286072 GRCh38: Chr2:219421350	DES	L345P	Desmin-related myofibrillar myopathy, not provided	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61778657.	NM_001927.4(DES):c.1043A>C (p.Gln348Pro) GRCh37: Chr2:220286081 GRCh38: Chr2:219421359	DES	Q348P	Desmin-related myofibrillar myopathy	Pathogenic (Feb 11, 2019)	no assertion criteria provided
Select item 1683558.	NM_001927.4(DES):c.1049G>C (p.Arg350Pro) GRCh37: Chr2:220286087 GRCh38: Chr2:219421365	DES	R350P	Desmin-related myofibrillar myopathy, not provided	Pathogenic (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94707359.	NM_001927.4(DES):c.1055T>C (p.Leu352Ser) GRCh37: Chr2:220286093 GRCh38: Chr2:219421371	DES	L262S, L345S, L352S, L351S	Desmin-related myofibrillar myopathy	Likely pathogenic (May 6, 2022)	criteria provided, single submitter
Select item 6639160.	NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) GRCh37: Chr2:220286107-220286115 GRCh38: Chr2:219421385-219421393	DES		not provided	Pathogenic (Apr 21, 2017)	criteria provided, single submitter
Select item 6639061.	NM_001927.4(DES):c.1069G>C (p.Ala357Pro) GRCh37: Chr2:220286107 GRCh38: Chr2:219421385	DES	A357P	not provided	Pathogenic (Jul 27, 2017)	criteria provided, single submitter
Select item 1682162.	NM_001927.4(DES):c.1078G>C (p.Ala360Pro) GRCh37: Chr2:220286116 GRCh38: Chr2:219421394	DES	A360P	Desmin-related myofibrillar myopathy	Pathogenic (Aug 1, 1998)	no assertion criteria provided
Select item 80190063.	NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) GRCh37: Chr2:220286127-220286144 GRCh38: Chr2:219421405-219421422	DES		Desmin-related myofibrillar myopathy	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 145398764.	NM_001927.4(DES):c.1090C>T (p.Gln364Ter) GRCh37: Chr2:220286128 GRCh38: Chr2:219421406	DES	Q363, Q357, Q364, Q274	Desmin-related myofibrillar myopathy	Pathogenic (Oct 5, 2021)	criteria provided, single submitter
Select item 6639365.	NM_001927.4(DES):c.1109T>C (p.Leu370Pro) GRCh37: Chr2:220286147 GRCh38: Chr2:219421425	DES	L370P	Desmin-related myofibrillar myopathy, not provided	Pathogenic (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 147110866.	NM_001927.4(DES):c.1130T>C (p.Leu377Pro) GRCh37: Chr2:220286168 GRCh38: Chr2:219421446	DES	L287P, L376P, L354P, L370P, L377P	Desmin-related myofibrillar myopathy	Likely pathogenic (Jun 19, 2022)	criteria provided, single submitter
Select item 64113867.	NM_001927.4(DES):c.1132_1153del (p.Lys378fs) GRCh37: Chr2:220286168-220286189 GRCh38: Chr2:219421446-219421467	DES	K378fs	Desmin-related myofibrillar myopathy	Pathogenic (Jul 10, 2018)	criteria provided, single submitter
Select item 52269268.	NM_001927.4(DES):c.1151A>G (p.His384Arg) GRCh37: Chr2:220286189 GRCh38: Chr2:219421467	DES	H384R	Desmin-related myofibrillar myopathy	Likely pathogenic (Dec 3, 2017)	criteria provided, single submitter
Select item 1682969.	NM_001927.4(DES):c.1154T>C (p.Leu385Pro) GRCh37: Chr2:220286192 GRCh38: Chr2:219421470	DES	L385P	Desmin-related myofibrillar myopathy	Pathogenic (Oct 10, 2000)	no assertion criteria provided
Select item 133298370.	NM_001927.4(DES):c.1158_1160delinsTACCAGGACCTGCTG (p.Glu387delinsThrArgThrCysTrp) GRCh37: Chr2:220286196-220286198 GRCh38: Chr2:219421474-219421476	DES		Progressive familial heart block, Bradycardia	Likely pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 1683071.	NM_001927.4(DES):c.1166A>C (p.Gln389Pro) GRCh37: Chr2:220286204 GRCh38: Chr2:219421482	DES	Q389P	Desmin-related myofibrillar myopathy	Pathogenic (Nov 1, 2001)	no assertion criteria provided
Select item 198822172.	NM_001927.4(DES):c.1171del (p.Leu391fs) GRCh37: Chr2:220286208 GRCh38: Chr2:219421486	DES	L247fs, L301fs, L384fs, L390fs, L391fs, L368fs	Desmin-related myofibrillar myopathy	Pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 1682273.	NM_001927.4(DES):c.1178A>T (p.Asn393Ile) GRCh37: Chr2:220286216 GRCh38: Chr2:219421494	DES	N393I	Desmin-related myofibrillar myopathy	Pathogenic (Aug 1, 1998)	no assertion criteria provided
Select item 6639674.	NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) GRCh37: Chr2:220286233 GRCh38: Chr2:219421511	DES	D399Y	Desmin-related myofibrillar myopathy	Likely pathogenic (Mar 16, 2015)	criteria provided, single submitter
Select item 6639775.	NM_001927.4(DES):c.1201G>A (p.Glu401Lys) GRCh37: Chr2:220286239 GRCh38: Chr2:219421517	DES	E401K	Desmin-related myofibrillar myopathy	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 96985576.	NM_001927.4(DES):c.1202A>G (p.Glu401Gly) GRCh37: Chr2:220286240 GRCh38: Chr2:219421518	DES	E394G, E311G, E378G, E400G, E401G, E257G	Desmin-related myofibrillar myopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 28533777.	NM_001927.4(DES):c.1213del (p.Tyr405fs) GRCh37: Chr2:220286251 GRCh38: Chr2:219421529	DES	Y405fs	not provided, Desmin-related myofibrillar myopathy	Pathogenic (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150173078.	NM_001927.4(DES):c.1214A>C (p.Tyr405Ser) GRCh37: Chr2:220286252 GRCh38: Chr2:219421530	DES	Y382S, Y405S, Y315S, Y398S, Y261S, Y404S	Desmin-related myofibrillar myopathy	Likely pathogenic (Sep 15, 2021)	criteria provided, single submitter
Select item 1682679.	NM_001927.4(DES):c.1216C>T (p.Arg406Trp) GRCh37: Chr2:220286254 GRCh38: Chr2:219421532	DES	R406W	Desmin-related myofibrillar myopathy, not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy	Pathogenic/Likely pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210993680.	NM_001927.4(DES):c.1217G>C (p.Arg406Pro) GRCh37: Chr2:220286255 GRCh38: Chr2:219421533	DES	R405P, R316P, R262P, R406P, R383P, R399P	Desmin-related myofibrillar myopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 28020681.	NM_001927.4(DES):c.1223del (p.Leu408fs) GRCh37: Chr2:220286261 GRCh38: Chr2:219421539	DES	L408fs	not provided	Likely pathogenic (Dec 23, 2016)	criteria provided, single submitter
Select item 63966982.	NM_001927.4(DES):c.1237G>T (p.Glu413Ter) GRCh37: Chr2:220286275 GRCh38: Chr2:219421553	DES	E413*	Desmin-related myofibrillar myopathy	Pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 6639883.	NM_001927.4(DES):c.1237G>A (p.Glu413Lys) GRCh37: Chr2:220286275 GRCh38: Chr2:219421553	DES	E413K	Desmin-related myofibrillar myopathy, not provided	Pathogenic/Likely pathogenic (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 206503484.	NM_001927.4(DES):c.1244+1G>A GRCh37: Chr2:220286283 GRCh38: Chr2:219421561	DES		Desmin-related myofibrillar myopathy	Likely pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 52279685.	NM_001927.4(DES):c.1255_1271del (p.Pro419fs) GRCh37: Chr2:220288506-220288522 GRCh38: Chr2:219423784-219423800	DES	P419fs	Desmin-related myofibrillar myopathy, not provided	Pathogenic (Jun 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3971886.	NM_001927.4(DES):c.1255C>T (p.Pro419Ser) GRCh37: Chr2:220288509 GRCh38: Chr2:219423787	DES	P419S	Desmin-related myofibrillar myopathy, not provided	Pathogenic/Likely pathogenic (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 17787287.	NM_001927.4(DES):c.1285C>T (p.Arg429Ter) GRCh37: Chr2:220288539 GRCh38: Chr2:219423817	DES	R429*	Primary familial dilated cardiomyopathy, Desmin-related myofibrillar myopathy, Primary dilated cardiomyopathy, Neuromuscular disease, not provided, Desmin-related myofibrillar myopathy	Pathogenic/Likely pathogenic (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167584188.	NM_001927.4(DES):c.1289-741G>A GRCh37: Chr2:220289644 GRCh38: Chr2:219424922	DES		not provided	Pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 5682389.	NM_001927.4(DES):c.1289-2A>G GRCh37: Chr2:220290383 GRCh38: Chr2:219425661	DES		Desmin-related myofibrillar myopathy, Abnormality of the musculature, not provided	Pathogenic/Likely pathogenic (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1683490.	NM_001927.4(DES):c.1325C>T (p.Thr442Ile) GRCh37: Chr2:220290421 GRCh38: Chr2:219425699	DES	T442I	Desmin-related myofibrillar myopathy, not provided	Pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6640091.	NM_001927.4(DES):c.1346A>C (p.Lys449Thr) GRCh37: Chr2:220290442 GRCh38: Chr2:219425720	DES	K449T	not provided, Desmin-related myofibrillar myopathy	Pathogenic/Likely pathogenic (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20171592.	NM_001927.4(DES):c.1371+1G>C GRCh37: Chr2:220290468 GRCh38: Chr2:219425746	DES		not provided	Likely pathogenic (Apr 14, 2020)	criteria provided, single submitter
Select item 20171693.	NM_001927.4(DES):c.1412A>C (p.Ter471Ser) GRCh37: Chr2:220290711 GRCh38: Chr2:219425989	DES		not provided	Likely pathogenic (Jun 11, 2014)	criteria provided, single submitter
Select item 242432294.	NC_000002.11:g.(?_220283185)_(220290712_?)del GRCh37: Chr2:220283185-220290712	DES		Desmin-related myofibrillar myopathy	Pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 242432195.	NC_000002.11:g.(?_220284797)_(220284897_?)dup GRCh37: Chr2:220284797-220284897	DES		Desmin-related myofibrillar myopathy	Likely pathogenic (Jan 12, 2022)	criteria provided, single submitter
Select item 83168396.	NC_000002.12:g.(?_219418453)_(219426000_?)del GRCh37: Chr2:220283175-220290722	DES		Desmin-related myofibrillar myopathy	Pathogenic (Feb 6, 2019)	criteria provided, single submitter

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Items: 96