ClinVar for MedGen (Select 330449) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25022821.	NM_001927.4(DES):c.1273G>C (p.Ala425Pro) GRCh37: Chr2:220288527 GRCh38: Chr2:219423805	DES	A281P, A335P, A402P, A418P, A424P, A425P	Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy	not provided	no assertion provided
Select item 24243222.	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 24243213.	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 24204654.	NM_001927.4(DES):c.1303C>A (p.Gln435Lys) GRCh37: Chr2:220290399 GRCh38: Chr2:219425677	DES	Q291K, Q345K, Q412K, Q428K, Q434K, Q435K	Desmin-related myofibrillar myopathy	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 24188855.	NM_001927.4(DES):c.623T>G (p.Leu208Trp) GRCh37: Chr2:220284861 GRCh38: Chr2:219420139	DES	L208W	Desmin-related myofibrillar myopathy	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 24159396.	NM_001927.4(DES):c.570C>G (p.Leu190=) GRCh37: Chr2:220283754 GRCh38: Chr2:219419032	DES		Desmin-related myofibrillar myopathy	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 22022377.	NM_001927.4(DES):c.166G>T (p.Val56Leu) GRCh37: Chr2:220283350 GRCh38: Chr2:219418628	DES	V56L	Desmin-related myofibrillar myopathy	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 21955858.	NM_001927.4(DES):c.1124G>A (p.Arg375Gln) GRCh37: Chr2:220286162 GRCh38: Chr2:219421440	DES	R368Q, R285Q, R352Q, R375Q, R374Q	Desmin-related myofibrillar myopathy	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 21948259.	NM_001927.4(DES):c.1288+14G>A GRCh37: Chr2:220288556 GRCh38: Chr2:219423834	DES		Desmin-related myofibrillar myopathy	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 219201410.	NM_001927.4(DES):c.640-15C>A GRCh37: Chr2:220284958 GRCh38: Chr2:219420236	DES		Desmin-related myofibrillar myopathy	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 219014311.	NM_001927.4(DES):c.1289-17G>A GRCh37: Chr2:220290368 GRCh38: Chr2:219425646	DES		Desmin-related myofibrillar myopathy	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 218658012.	NM_001927.4(DES):c.213C>T (p.Ala71=) GRCh37: Chr2:220283397 GRCh38: Chr2:219418675	DES		Desmin-related myofibrillar myopathy	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 218657713.	NM_001927.4(DES):c.931A>G (p.Asn311Asp) GRCh37: Chr2:220285583 GRCh38: Chr2:219420861	DES	N311D, N310D, N221D	Desmin-related myofibrillar myopathy	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 218415414.	NM_001927.4(DES):c.100G>A (p.Val34Met) GRCh37: Chr2:220283284 GRCh38: Chr2:219418562	DES	V34M	not provided, Desmin-related myofibrillar myopathy	Uncertain significance (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218109915.	NM_001927.4(DES):c.224G>A (p.Gly75Glu) GRCh37: Chr2:220283408 GRCh38: Chr2:219418686	DES	G75E	Desmin-related myofibrillar myopathy	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 217806616.	NM_001927.4(DES):c.1085G>A (p.Gly362Asp) GRCh37: Chr2:220286123 GRCh38: Chr2:219421401	DES	G272D, G355D, G362D, G361D	Desmin-related myofibrillar myopathy	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 217559117.	NM_001927.4(DES):c.235A>C (p.Thr79Pro) GRCh37: Chr2:220283419 GRCh38: Chr2:219418697	DES	T79P	Desmin-related myofibrillar myopathy	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 217365518.	NM_001927.4(DES):c.1372-6C>T GRCh37: Chr2:220290665 GRCh38: Chr2:219425943	DES		Desmin-related myofibrillar myopathy	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 217222419.	NM_001927.4(DES):c.399C>T (p.Asn133=) GRCh37: Chr2:220283583 GRCh38: Chr2:219418861	DES		Desmin-related myofibrillar myopathy	Likely benign (Aug 30, 2019)	criteria provided, single submitter
Select item 217110420.	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 217110321.	NM_001927.4(DES):c.345C>G (p.Leu115=) GRCh37: Chr2:220283529 GRCh38: Chr2:219418807	DES		Desmin-related myofibrillar myopathy	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216950722.	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 216777823.	NM_001927.4(DES):c.36C>T (p.Ser12=) GRCh37: Chr2:220283220 GRCh38: Chr2:219418498	DES		Desmin-related myofibrillar myopathy	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 216674624.	NM_001927.4(DES):c.253G>A (p.Ala85Thr) GRCh37: Chr2:220283437 GRCh38: Chr2:219418715	DES	A85T	Desmin-related myofibrillar myopathy	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 216231225.	NM_001927.4(DES):c.898-19C>A GRCh37: Chr2:220285531 GRCh38: Chr2:219420809	DES		Desmin-related myofibrillar myopathy	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 216049326.	NM_001927.4(DES):c.995C>A (p.Thr332Asn) GRCh37: Chr2:220285647 GRCh38: Chr2:219420925	DES	T242N, T331N, T332N	Desmin-related myofibrillar myopathy	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 215946227.	NM_001927.4(DES):c.86C>G (p.Pro29Arg) GRCh37: Chr2:220283270 GRCh38: Chr2:219418548	DES	P29R	Desmin-related myofibrillar myopathy	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 215869828.	NM_001927.4(DES):c.236C>T (p.Thr79Met) GRCh37: Chr2:220283420 GRCh38: Chr2:219418698	DES	T79M	Desmin-related myofibrillar myopathy	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 215545929.	NM_001927.4(DES):c.962T>A (p.Met321Lys) GRCh37: Chr2:220285614 GRCh38: Chr2:219420892	DES	M321K, M231K, M320K	Desmin-related myofibrillar myopathy	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 215264030.	NM_001927.4(DES):c.567G>A (p.Arg189=) GRCh37: Chr2:220283751 GRCh38: Chr2:219419029	DES		Desmin-related myofibrillar myopathy	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 214867231.	NM_001927.4(DES):c.1126C>G (p.His376Asp) GRCh37: Chr2:220286164 GRCh38: Chr2:219421442	DES	H286D, H353D, H375D, H376D, H369D	Desmin-related myofibrillar myopathy	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 214709532.	NM_001927.4(DES):c.710C>T (p.Ala237Val) GRCh37: Chr2:220285043 GRCh38: Chr2:219420321	DES	A237V	Desmin-related myofibrillar myopathy	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 214304533.	NM_001927.4(DES):c.1023+5G>A GRCh37: Chr2:220285680 GRCh38: Chr2:219420958	DES		Desmin-related myofibrillar myopathy	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 214259934.	NM_001927.4(DES):c.978C>T (p.His326=) GRCh37: Chr2:220285630 GRCh38: Chr2:219420908	DES		Desmin-related myofibrillar myopathy	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 214255835.	NM_001927.4(DES):c.898-7C>A GRCh37: Chr2:220285543 GRCh38: Chr2:219420821	DES		Desmin-related myofibrillar myopathy	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 214246436.	NM_001927.4(DES):c.1334C>T (p.Thr445Met) GRCh37: Chr2:220290430 GRCh38: Chr2:219425708	DES	T355M, T438M, T444M, T422M, T445M, T301M	Desmin-related myofibrillar myopathy	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 213581737.	NM_001927.4(DES):c.1298C>T (p.Pro433Leu) GRCh37: Chr2:220290394 GRCh38: Chr2:219425672	DES	P289L, P432L, P410L, P343L, P433L, P426L	Desmin-related myofibrillar myopathy	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 213469038.	NM_001927.4(DES):c.543C>G (p.Asp181Glu) GRCh37: Chr2:220283727 GRCh38: Chr2:219419005	DES	D181E	Desmin-related myofibrillar myopathy	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 213258139.	NM_001927.4(DES):c.278T>C (p.Leu93Pro) GRCh37: Chr2:220283462 GRCh38: Chr2:219418740	DES	L93P	Desmin-related myofibrillar myopathy	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213227640.	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 212972741.	NM_001927.4(DES):c.556G>C (p.Asp186His) GRCh37: Chr2:220283740 GRCh38: Chr2:219419018	DES	D186H	Desmin-related myofibrillar myopathy	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 212864742.	NM_001927.4(DES):c.643G>C (p.Val215Leu) GRCh37: Chr2:220284976 GRCh38: Chr2:219420254	DES	V215L, V214L	Desmin-related myofibrillar myopathy	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212809343.	NM_001927.4(DES):c.211G>T (p.Ala71Ser) GRCh37: Chr2:220283395 GRCh38: Chr2:219418673	DES	A71S	Desmin-related myofibrillar myopathy	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 212755644.	NM_001927.4(DES):c.1244+8G>A GRCh37: Chr2:220286290 GRCh38: Chr2:219421568	DES		Desmin-related myofibrillar myopathy	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 212369645.	NM_001927.4(DES):c.834G>C (p.Arg278=) GRCh37: Chr2:220285315 GRCh38: Chr2:219420593	DES		Desmin-related myofibrillar myopathy	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 211968146.	NM_001927.4(DES):c.807C>T (p.Asp269=) GRCh37: Chr2:220285288 GRCh38: Chr2:219420566	DES		Desmin-related myofibrillar myopathy	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 211938947.	NM_001927.4(DES):c.1122C>A (p.Ile374=) GRCh37: Chr2:220286160 GRCh38: Chr2:219421438	DES		Desmin-related myofibrillar myopathy	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 211511248.	NM_001927.4(DES):c.681C>T (p.Arg227=) GRCh37: Chr2:220285014 GRCh38: Chr2:219420292	DES		Desmin-related myofibrillar myopathy	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 211071149.	NM_001927.4(DES):c.1289-19G>A GRCh37: Chr2:220290366 GRCh38: Chr2:219425644	DES		Desmin-related myofibrillar myopathy	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 211036250.	NM_001927.4(DES):c.11C>A (p.Ala4Asp) GRCh37: Chr2:220283195 GRCh38: Chr2:219418473	DES	A4D	Desmin-related myofibrillar myopathy	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 211035251.	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 210993652.	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 210769053.	NM_001927.4(DES):c.904G>C (p.Asp302His) GRCh37: Chr2:220285556 GRCh38: Chr2:219420834	DES	D301H, D212H, D302H	Desmin-related myofibrillar myopathy	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 210642854.	NM_001927.4(DES):c.845A>G (p.Glu282Gly) GRCh37: Chr2:220285326 GRCh38: Chr2:219420604	DES	E281G, E192G, E282G	Desmin-related myofibrillar myopathy	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 210224955.	NM_001927.4(DES):c.1208C>A (p.Ala403Asp) GRCh37: Chr2:220286246 GRCh38: Chr2:219421524	DES	A396D, A313D, A380D, A402D, A403D, A259D	Desmin-related myofibrillar myopathy	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 210077656.	NM_001927.4(DES):c.49A>C (p.Thr17Pro) GRCh37: Chr2:220283233 GRCh38: Chr2:219418511	DES	T17P	Desmin-related myofibrillar myopathy	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209954157.	NM_001927.4(DES):c.554A>T (p.Asp185Val) GRCh37: Chr2:220283738 GRCh38: Chr2:219419016	DES	D185V	Desmin-related myofibrillar myopathy	Uncertain significance (Feb 26, 2022)	criteria provided, single submitter
Select item 209819158.	NM_001927.4(DES):c.715C>T (p.Leu239Phe) GRCh37: Chr2:220285048 GRCh38: Chr2:219420326	DES	L238F, L239F	Desmin-related myofibrillar myopathy	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 209805859.	NM_001927.4(DES):c.921CAA[1] (p.Asn308del) GRCh37: Chr2:220285573-220285575 GRCh38: Chr2:219420851-219420853	DES	N218del, N307del, N308del	Desmin-related myofibrillar myopathy	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 209796060.	NM_001927.4(DES):c.1024-10del GRCh37: Chr2:220286052 GRCh38: Chr2:219421330	DES		Desmin-related myofibrillar myopathy	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 209526161.	NM_001927.4(DES):c.702G>A (p.Glu234=) GRCh37: Chr2:220285035 GRCh38: Chr2:219420313	DES		Desmin-related myofibrillar myopathy	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 209445762.	NM_001927.4(DES):c.897+15C>T GRCh37: Chr2:220285393 GRCh38: Chr2:219420671	DES		Desmin-related myofibrillar myopathy	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 209163763.	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 209067064.	NM_001927.4(DES):c.1236G>T (p.Glu412Asp) GRCh37: Chr2:220286274 GRCh38: Chr2:219421552	DES	E268D, E322D, E389D, E412D, E405D, E411D	Desmin-related myofibrillar myopathy	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 208585265.	NM_001927.4(DES):c.735+6C>A GRCh37: Chr2:220285074 GRCh38: Chr2:219420352	DES		Desmin-related myofibrillar myopathy	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 208472066.	NM_001927.4(DES):c.891G>A (p.Lys297=) GRCh37: Chr2:220285372 GRCh38: Chr2:219420650	DES		Desmin-related myofibrillar myopathy	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 208224067.	NM_001927.4(DES):c.1379G>A (p.Ser460Asn) GRCh37: Chr2:220290678 GRCh38: Chr2:219425956	DES	S316N, S453N, S459N, S437N, S460N, S370N	Desmin-related myofibrillar myopathy	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 208178268.	NM_001927.4(DES):c.1240A>G (p.Ser414Gly) GRCh37: Chr2:220286278 GRCh38: Chr2:219421556	DES	S414G, S413G, S270G, S324G, S407G, S391G	Desmin-related myofibrillar myopathy	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 207965769.	NM_001927.4(DES):c.564G>T (p.Gln188His) GRCh37: Chr2:220283748 GRCh38: Chr2:219419026	DES	Q188H	Desmin-related myofibrillar myopathy	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 207939870.	NM_001927.4(DES):c.1248C>G (p.Ile416Met) GRCh37: Chr2:220288502 GRCh38: Chr2:219423780	DES	I416M, I272M, I393M, I415M, I326M, I409M	Desmin-related myofibrillar myopathy	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 207935671.	NM_001927.4(DES):c.88C>T (p.Leu30=) GRCh37: Chr2:220283272 GRCh38: Chr2:219418550	DES		Desmin-related myofibrillar myopathy	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 207368872.	NM_001927.4(DES):c.106C>T (p.Pro36Ser) GRCh37: Chr2:220283290 GRCh38: Chr2:219418568	DES	P36S	Desmin-related myofibrillar myopathy	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 206503473.	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 206174274.	NM_001927.4(DES):c.1245-7C>G GRCh37: Chr2:220288492 GRCh38: Chr2:219423770	DES		Desmin-related myofibrillar myopathy	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 205812375.	NM_001927.4(DES):c.1372-3C>T GRCh37: Chr2:220290668 GRCh38: Chr2:219425946	DES		Desmin-related myofibrillar myopathy	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 204919576.	NM_001927.4(DES):c.997T>C (p.Cys333Arg) GRCh37: Chr2:220285649 GRCh38: Chr2:219420927	DES	C332R, C333R, C243R	Desmin-related myofibrillar myopathy	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 204673677.	NM_001927.4(DES):c.1023+6_1023+24dup GRCh37: Chr2:220285678-220285679 GRCh38: Chr2:219420956-219420957	DES		Desmin-related myofibrillar myopathy, not provided	Uncertain significance (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204014878.	NM_001927.4(DES):c.735+9T>C GRCh37: Chr2:220285077 GRCh38: Chr2:219420355	DES		Desmin-related myofibrillar myopathy	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 203736179.	NM_001927.4(DES):c.536A>T (p.Glu179Val) GRCh37: Chr2:220283720 GRCh38: Chr2:219418998	DES	E179V	Desmin-related myofibrillar myopathy	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 203313180.	NM_001927.4(DES):c.898-17C>T GRCh37: Chr2:220285533 GRCh38: Chr2:219420811	DES		Desmin-related myofibrillar myopathy	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 202939081.	NM_001927.4(DES):c.171G>T (p.Ser57=) GRCh37: Chr2:220283355 GRCh38: Chr2:219418633	DES		Desmin-related myofibrillar myopathy	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 202928382.	NM_001927.4(DES):c.722_724del (p.Lys241_Val242delinsMet) GRCh37: Chr2:220285055-220285057 GRCh38: Chr2:219420333-219420335	DES		Desmin-related myofibrillar myopathy	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 202878783.	NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del) GRCh37: Chr2:220283717-220283734 GRCh38: Chr2:219418995-219419012	DES		Desmin-related myofibrillar myopathy, not provided	Uncertain significance (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 201802284.	NM_001927.4(DES):c.544_558del (p.Asn182_Asp186del) GRCh37: Chr2:220283724-220283738 GRCh38: Chr2:219419002-219419016	DES		Desmin-related myofibrillar myopathy	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 201671785.	NM_001927.4(DES):c.876T>C (p.Ala292=) GRCh37: Chr2:220285357 GRCh38: Chr2:219420635	DES		Desmin-related myofibrillar myopathy	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201518986.	NM_001927.4(DES):c.1363G>A (p.Asp455Asn) GRCh37: Chr2:220290459 GRCh38: Chr2:219425737	DES	D365N, D311N, D454N, D432N, D448N, D455N	Desmin-related myofibrillar myopathy	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 200958187.	NM_001927.4(DES):c.321C>A (p.Asn107Lys) GRCh37: Chr2:220283505 GRCh38: Chr2:219418783	DES	N107K	Desmin-related myofibrillar myopathy	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 200858588.	NM_001927.4(DES):c.1371+1G>T GRCh37: Chr2:220290468 GRCh38: Chr2:219425746	DES		Desmin-related myofibrillar myopathy	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 200734989.	NM_001927.4(DES):c.379C>T (p.Arg127Cys) GRCh37: Chr2:220283563 GRCh38: Chr2:219418841	DES	R127C	Desmin-related myofibrillar myopathy	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 200685490.	NM_001927.4(DES):c.517C>G (p.Arg173Gly) GRCh37: Chr2:220283701 GRCh38: Chr2:219418979	DES	R173G	Desmin-related myofibrillar myopathy	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 199751091.	NM_001927.4(DES):c.790G>A (p.Asp264Asn) GRCh37: Chr2:220285271 GRCh38: Chr2:219420549	DES	D174N, D263N, D264N	Desmin-related myofibrillar myopathy	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 199731092.	NM_001927.4(DES):c.482A>G (p.Glu161Gly) GRCh37: Chr2:220283666 GRCh38: Chr2:219418944	DES	E161G	Desmin-related myofibrillar myopathy	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 199723993.	NM_001927.4(DES):c.456C>G (p.Ala152=) GRCh37: Chr2:220283640 GRCh38: Chr2:219418918	DES		Desmin-related myofibrillar myopathy	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 199608994.	NM_001927.4(DES):c.482_490dup (p.Arg163_Arg164insGlnLeuArg) GRCh37: Chr2:220283665-220283666 GRCh38: Chr2:219418943-219418944	DES		Desmin-related myofibrillar myopathy	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 199299095.	NM_001927.4(DES):c.1303C>G (p.Gln435Glu) GRCh37: Chr2:220290399 GRCh38: Chr2:219425677	DES	Q428E, Q345E, Q434E, Q435E, Q291E, Q412E	Desmin-related myofibrillar myopathy	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 199198096.	NM_001927.4(DES):c.428T>G (p.Leu143Arg) GRCh37: Chr2:220283612 GRCh38: Chr2:219418890	DES	L143R	Desmin-related myofibrillar myopathy	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 198956497.	NM_001927.4(DES):c.1092G>T (p.Gln364His) GRCh37: Chr2:220286130 GRCh38: Chr2:219421408	DES	Q357H, Q363H, Q364H, Q274H	Desmin-related myofibrillar myopathy	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 198902998.	NM_001927.4(DES):c.579-15G>C GRCh37: Chr2:220284802 GRCh38: Chr2:219420080	DES		Desmin-related myofibrillar myopathy	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 198822199.	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 1984588100.	NM_001927.4(DES):c.22A>G (p.Ser8Gly) GRCh37: Chr2:220283206 GRCh38: Chr2:219418484	DES	S8G	Desmin-related myofibrillar myopathy	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter

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