NC_000002.11:g.(?_220150706)_(220290732_?)dup |
duplication |
Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000552669] |
Chr2:219285984..219426010 [GRCh38] Chr2:220150706..220290732 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1219A>C (p.Lys407Gln) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000551956] |
Chr2:219421535 [GRCh38] Chr2:220286257 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000817811]|not provided [RCV000056783] |
Chr2:219423787 [GRCh38] Chr2:220288509 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_001927.4(DES):c.669T>C (p.Ile223=) |
single nucleotide variant |
Cardiomyopathy [RCV000029659]|Cardiovascular phenotype [RCV000250651]|Desmin-related myofibrillar myopathy [RCV000476709]|Dilated cardiomyopathy 1I [RCV000384969]|Myofibrillar Myopathy, Dominant [RCV000265756]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000320860]|not provided [RCV001659730]|not specified [RCV000037247] |
Chr2:219420280 [GRCh38] Chr2:220285002 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_001927.4(DES):c.75A>G (p.Pro25=) |
single nucleotide variant |
Cardiomyopathy [RCV000029660]|Cardiovascular phenotype [RCV000250669]|Desmin-related myofibrillar myopathy [RCV001509595]|Dilated cardiomyopathy 1I [RCV000395699]|Myofibrillar Myopathy, Dominant [RCV000395883]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000356753]|not provided [RCV000710119]|not specified [RCV000037251] |
Chr2:219418537 [GRCh38] Chr2:220283259 [GRCh37] Chr2:2q35 |
benign |
NM_001927.4(DES):c.93T>C (p.Ser31=) |
single nucleotide variant |
Cardiomyopathy [RCV000029661]|Cardiovascular phenotype [RCV000242424]|Desmin-related myofibrillar myopathy [RCV001509596]|Dilated cardiomyopathy 1I [RCV000312502]|Myofibrillar Myopathy, Dominant [RCV000277612]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000369464]|not provided [RCV000710120]|not specified [RCV000037256] |
Chr2:219418555 [GRCh38] Chr2:220283277 [GRCh37] Chr2:2q35 |
benign |
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265557]|Dilated cardiomyopathy 1I [RCV000856836]|not provided [RCV000056762] |
Chr2:219420939 [GRCh38] Chr2:220285661 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.1078G>C (p.Ala360Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265558] |
Chr2:219421394 [GRCh38] Chr2:220286116 [GRCh37] Chr2:2q35 |
pathogenic |
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162255]|Desmin-related myofibrillar myopathy [RCV002265559]|not provided [RCV000056778] |
Chr2:219421494 [GRCh38] Chr2:220286216 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) |
deletion |
Desmin-related myofibrillar myopathy [RCV002265560]|not provided [RCV000056803] |
Chr2:219418977..219418997 [GRCh38] Chr2:220283699..220283719 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.1353C>G (p.Ile451Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV004018640]|Desmin-related myofibrillar myopathy [RCV000698481]|Dilated cardiomyopathy 1I [RCV000018318]|not provided [RCV000056787]|not specified [RCV002265561] |
Chr2:219425727 [GRCh38] Chr2:220290449 [GRCh37] Chr2:2q35 |
pathogenic|benign|uncertain significance|not provided |
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001044194]|not provided [RCV000056765] |
Chr2:219421350 [GRCh38] Chr2:220286072 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|not provided |
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) |
single nucleotide variant |
Arrhythmogenic right ventricular cardiomyopathy [RCV001787806]|Cardiomyopathy [RCV001798009]|Desmin-related myofibrillar myopathy [RCV000627795]|not provided [RCV000056781] |
Chr2:219421532 [GRCh38] Chr2:220286254 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
DES, IVS3DS, A-G, +3 |
single nucleotide variant |
Myofibrillar myopathy 1 [RCV000018321] |
Chr2:2q35 |
pathogenic |
DES, IVS2, G-A, -1 |
single nucleotide variant |
Myofibrillar myopathy 1 [RCV000018322] |
Chr2:2q35 |
pathogenic |
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265562]|not provided [RCV000056775] |
Chr2:219421470 [GRCh38] Chr2:220286192 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.1166A>C (p.Gln389Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265563]|not provided [RCV000056776] |
Chr2:219421482 [GRCh38] Chr2:220286204 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|not provided |
DES, GLU359-ALA360-SER361 DEL |
deletion |
Desmin-related myofibrillar myopathy [RCV002265564] |
Chr2:2q35 |
pathogenic |
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) |
microsatellite |
Desmin-related myofibrillar myopathy [RCV001316353]|not provided [RCV000056771] |
Chr2:219421410..219421412 [GRCh38] Chr2:220286132..220286134 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|uncertain significance|not provided |
DES, 3-BP DEL, 720GAA |
insertion |
Desmin-related myofibrillar myopathy [RCV002265565] |
Chr2:2q35 |
pathogenic |
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000811753]|not provided [RCV000056784] |
Chr2:219425699 [GRCh38] Chr2:220290421 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000651542]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000018329]|not provided [RCV000056767] |
Chr2:219421365 [GRCh38] Chr2:220286087 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.541G>A (p.Asp181Asn) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265808]|Dilated cardiomyopathy 1I [RCV000577988] |
Chr2:219419003 [GRCh38] Chr2:220283725 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1255C>A (p.Pro419Thr) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000546121] |
Chr2:219423787 [GRCh38] Chr2:220288509 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1289-2A>G |
single nucleotide variant |
Abnormality of the musculature [RCV001814034]|Desmin-related myofibrillar myopathy [RCV002265587]|not provided [RCV001781382] |
Chr2:219425661 [GRCh38] Chr2:220290383 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic |
NM_001927.4(DES):c.1014G>C (p.Leu338=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000250707]|Desmin-related myofibrillar myopathy [RCV001509598]|Dilated cardiomyopathy 1I [RCV000270208]|Myofibrillar Myopathy, Dominant [RCV000388336]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000293964]|not provided [RCV000710116]|not specified [RCV000037222] |
Chr2:219420944 [GRCh38] Chr2:220285666 [GRCh37] Chr2:2q35 |
benign |
NM_001927.4(DES):c.1026C>T (p.Asn342=) |
single nucleotide variant |
Cardiomyopathy [RCV000770172]|Cardiovascular phenotype [RCV000248571]|Desmin-related myofibrillar myopathy [RCV000459928]|Dilated cardiomyopathy 1I [RCV000336268]|Myofibrillar Myopathy, Dominant [RCV000348859]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000281168]|not provided [RCV001529517]|not specified [RCV000037223] |
Chr2:219421342 [GRCh38] Chr2:220286064 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) |
single nucleotide variant |
Cardiomyopathy [RCV003486560]|Cardiovascular phenotype [RCV003298065]|DES-related disorder [RCV003398603]|Desmin-related myofibrillar myopathy [RCV001039932]|Dilated cardiomyopathy 1I [RCV001250885]|Primary dilated cardiomyopathy [RCV000157164]|not provided [RCV000056766]|not specified [RCV000037224] |
Chr2:219421364 [GRCh38] Chr2:220286086 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001927.4(DES):c.1104G>A (p.Ala368=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000242476]|Desmin-related myofibrillar myopathy [RCV001509599]|Dilated cardiomyopathy 1I [RCV000403379]|Myofibrillar Myopathy, Dominant [RCV000305879]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000342152]|not provided [RCV000710117]|not specified [RCV000037225] |
Chr2:219421420 [GRCh38] Chr2:220286142 [GRCh37] Chr2:2q35 |
benign |
NM_001927.4(DES):c.114G>A (p.Ala38=) |
single nucleotide variant |
Cardiomyopathy [RCV001171065]|Cardiovascular phenotype [RCV002453311]|DES-related disorder [RCV003944905]|Desmin-related myofibrillar myopathy [RCV000464462]|Dilated cardiomyopathy 1I [RCV002490504]|not provided [RCV001705670]|not specified [RCV000037226] |
Chr2:219418576 [GRCh38] Chr2:220283298 [GRCh37] Chr2:2q35 |
benign|likely benign|uncertain significance |
NM_001927.4(DES):c.114G>T (p.Ala38=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162322]|Desmin-related myofibrillar myopathy [RCV000869830]|not specified [RCV000037227] |
Chr2:219418576 [GRCh38] Chr2:220283298 [GRCh37] Chr2:2q35 |
likely benign |
NM_001927.4(DES):c.1226T>C (p.Leu409Pro) |
single nucleotide variant |
not specified [RCV000037228] |
Chr2:219421542 [GRCh38] Chr2:220286264 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1260C>T (p.Ile420=) |
single nucleotide variant |
not specified [RCV000037229] |
Chr2:219423792 [GRCh38] Chr2:220288514 [GRCh37] Chr2:2q35 |
likely benign |
NM_001927.4(DES):c.127A>G (p.Lys43Glu) |
single nucleotide variant |
not specified [RCV000037230] |
Chr2:219418589 [GRCh38] Chr2:220283311 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001852772]|not specified [RCV000037231] |
Chr2:219425740 [GRCh38] Chr2:220290462 [GRCh37] Chr2:2q35 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.1375G>A (p.Val459Ile) |
single nucleotide variant |
Cardiomyopathy [RCV000770175]|Cardiovascular phenotype [RCV000248138]|Desmin-related myofibrillar myopathy [RCV001084307]|Dilated cardiomyopathy 1I [RCV000307505]|Myofibrillar Myopathy, Dominant [RCV000271115]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000366607]|Primary dilated cardiomyopathy [RCV000172744]|not provided [RCV000056791]|not specified [RCV000037232] |
Chr2:219425952 [GRCh38] Chr2:220290674 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_001927.4(DES):c.1404A>G (p.Glu468=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390149]|Desmin-related myofibrillar myopathy [RCV001078786]|not provided [RCV000725821]|not specified [RCV000037233] |
Chr2:219425981 [GRCh38] Chr2:220290703 [GRCh37] Chr2:2q35 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.170C>T (p.Ser57Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621896]|Desmin-related myofibrillar myopathy [RCV000547047]|Dilated cardiomyopathy 1I [RCV001142159]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001142158]|not provided [RCV000586931]|not specified [RCV000037234] |
Chr2:219418632 [GRCh38] Chr2:220283354 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.18G>A (p.Ser6=) |
single nucleotide variant |
Cardiomyopathy [RCV000769153]|Cardiovascular phenotype [RCV002408511]|Desmin-related myofibrillar myopathy [RCV001081339]|Dilated cardiomyopathy 1I [RCV000334781]|Myofibrillar Myopathy, Dominant [RCV000340575]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000405735]|not provided [RCV000724222]|not specified [RCV000037235] |
Chr2:219418480 [GRCh38] Chr2:220283202 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.193G>A (p.Gly65Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV004018830]|Desmin-related myofibrillar myopathy [RCV000805979]|Dilated cardiomyopathy 1I [RCV000515205]|Dilated cardiomyopathy 1I [RCV001137423]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001137421]|not provided [RCV000724220]|not specified [RCV000037236] |
Chr2:219418655 [GRCh38] Chr2:220283377 [GRCh37] Chr2:2q35 |
benign|likely benign|uncertain significance |
NM_001927.4(DES):c.282C>G (p.Ala94=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433500]|Desmin-related myofibrillar myopathy [RCV002054649]|not specified [RCV000037237] |
Chr2:219418744 [GRCh38] Chr2:220283466 [GRCh37] Chr2:2q35 |
likely benign |
NM_001927.4(DES):c.372G>A (p.Glu124=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000252338]|Desmin-related myofibrillar myopathy [RCV000472667]|Dilated cardiomyopathy 1I [RCV000271597]|Myofibrillar Myopathy, Dominant [RCV000376849]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000329285]|not provided [RCV000711439]|not specified [RCV000037238] |
Chr2:219418834 [GRCh38] Chr2:220283556 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001927.4(DES):c.380G>C (p.Arg127Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular cardiomyopathy [RCV000852536]|Desmin-related myofibrillar myopathy [RCV000547988]|not provided [RCV000183371]|not specified [RCV000037239] |
Chr2:219418842 [GRCh38] Chr2:220283564 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.38C>T (p.Ser13Phe) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001389153]|Primary dilated cardiomyopathy [RCV000037240]|not provided [RCV000056801] |
Chr2:219418500 [GRCh38] Chr2:220283222 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.407T>A (p.Leu136His) |
single nucleotide variant |
Cardiomyopathy [RCV001798112]|Cardiovascular phenotype [RCV000618538]|Desmin-related myofibrillar myopathy [RCV000528546]|Dilated cardiomyopathy 1I [RCV002504889]|Myopathy [RCV000735343]|not provided [RCV000726980]|not specified [RCV000037241] |
Chr2:219418869 [GRCh38] Chr2:220283591 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.408C>T (p.Leu136=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249408]|Desmin-related myofibrillar myopathy [RCV000460179]|Dilated cardiomyopathy 1I [RCV000323335]|Myofibrillar Myopathy, Dominant [RCV000380447]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000284644]|not provided [RCV001668158]|not specified [RCV000037242] |
Chr2:219418870 [GRCh38] Chr2:220283592 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001927.4(DES):c.578+11G>A |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002054650]|Dilated cardiomyopathy 1I [RCV000282624]|Myofibrillar Myopathy, Dominant [RCV000336446]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000349318]|not provided [RCV001675591]|not specified [RCV000037243] |
Chr2:219419051 [GRCh38] Chr2:220283773 [GRCh37] Chr2:2q35 |
benign |
NM_001927.4(DES):c.582G>A (p.Leu194=) |
single nucleotide variant |
not specified [RCV000037244] |
Chr2:219420098 [GRCh38] Chr2:220284820 [GRCh37] Chr2:2q35 |
likely benign |
NM_001927.4(DES):c.638C>T (p.Ala213Val) |
single nucleotide variant |
Cardiomyopathy [RCV001171067]|Cardiovascular phenotype [RCV000250294]|Congenital diaphragmatic hernia [RCV000203295]|Desmin-related myofibrillar myopathy [RCV001083932]|Dilated cardiomyopathy 1I [RCV000313133]|Myofibrillar Myopathy, Dominant [RCV000263666]|Myofibrillar myopathy [RCV000239721]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000367823]|not provided [RCV000056805]|not specified [RCV000037245] |
Chr2:219420154 [GRCh38] Chr2:220284876 [GRCh37] Chr2:2q35 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001927.4(DES):c.642C>T (p.Asp214=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362627]|Desmin-related myofibrillar myopathy [RCV001085258]|Dilated cardiomyopathy 1I [RCV001142275]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001142276]|not provided [RCV000726210]|not specified [RCV000037246] |
Chr2:219420253 [GRCh38] Chr2:220284975 [GRCh37] Chr2:2q35 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.709G>A (p.Ala237Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV004018831]|Desmin-related myofibrillar myopathy [RCV000795291]|Dilated cardiomyopathy 1I [RCV002482985]|not provided [RCV000727164]|not specified [RCV000037248] |
Chr2:219420320 [GRCh38] Chr2:220285042 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.735+1G>A |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001220792]|not provided [RCV000393713] |
Chr2:219420347 [GRCh38] Chr2:220285069 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_001927.4(DES):c.735+20C>T |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002054651]|Myofibrillar myopathy [RCV000239638]|not provided [RCV001650866]|not specified [RCV000037250] |
Chr2:219420366 [GRCh38] Chr2:220285088 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_001927.4(DES):c.785A>T (p.Glu262Val) |
single nucleotide variant |
Cardiomyopathy [RCV003486561]|Cardiovascular phenotype [RCV002408512]|DES-related disorder [RCV003944906]|Desmin-related myofibrillar myopathy [RCV001081604]|not provided [RCV000711441]|not specified [RCV000037252] |
Chr2:219420544 [GRCh38] Chr2:220285266 [GRCh37] Chr2:2q35 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.792C>T (p.Asp264=) |
single nucleotide variant |
Cardiomyopathy [RCV003486562]|Cardiovascular phenotype [RCV000242387]|Desmin-related myofibrillar myopathy [RCV000204254]|Dilated cardiomyopathy 1I [RCV000381468]|Dilated cardiomyopathy 1I [RCV002496583]|Myofibrillar Myopathy, Dominant [RCV000345483]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000350858]|not provided [RCV001675592]|not specified [RCV000037253] |
Chr2:219420551 [GRCh38] Chr2:220285273 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001927.4(DES):c.828C>T (p.Asp276=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000247557]|Desmin-related myofibrillar myopathy [RCV001509597]|Dilated cardiomyopathy 1I [RCV000397462]|Myofibrillar Myopathy, Dominant [RCV000338231]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000390698]|not provided [RCV001650867]|not specified [RCV000037254] |
Chr2:219420587 [GRCh38] Chr2:220285309 [GRCh37] Chr2:2q35 |
benign |
NM_001927.4(DES):c.897+4_897+5del |
deletion |
Cardiomyopathy [RCV000770170]|Cardiovascular phenotype [RCV002444477]|DES-related disorder [RCV003924916]|Desmin-related myofibrillar myopathy [RCV000462365]|Dilated Cardiomyopathy, Dominant [RCV000352919]|Dilated cardiomyopathy 1I [RCV001258319]|Dilated cardiomyopathy 1I [RCV002482986]|Myofibrillar Myopathy, Dominant [RCV000298076]|Scapuloperoneal weakness [RCV000304469]|not provided [RCV001610325]|not specified [RCV000037255] |
Chr2:219420659..219420660 [GRCh38] Chr2:220285381..220285382 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001927.4(DES):c.934G>A (p.Asp312Asn) |
single nucleotide variant |
Cardiomyopathy [RCV000770171]|Cardiovascular phenotype [RCV000245347]|Desmin-related myofibrillar myopathy [RCV000475003]|Dilated cardiomyopathy 1I [RCV001137622]|Dilated cardiomyopathy 1I [RCV002265577]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001137623]|Primary dilated cardiomyopathy [RCV001293064]|not provided [RCV000056815] |
Chr2:219420864 [GRCh38] Chr2:220285586 [GRCh37] Chr2:2q35 |
benign|likely benign|uncertain significance|not provided |
NM_001927.4(DES):c.935A>C (p.Asp312Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243219]|DES-related disorder [RCV003914934]|Desmin-related myofibrillar myopathy [RCV001085666]|not provided [RCV000725547]|not specified [RCV000037258] |
Chr2:219420865 [GRCh38] Chr2:220285587 [GRCh37] Chr2:2q35 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.980A>C (p.Gln327Pro) |
single nucleotide variant |
not specified [RCV000037259] |
Chr2:219420910 [GRCh38] Chr2:220285632 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 |
copy number gain |
See cases [RCV000051119] |
Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 |
copy number loss |
See cases [RCV000052634] |
Chr2:219081620..225430308 [GRCh38] Chr2:219946342..226295024 [GRCh37] Chr2:219654586..226003268 [NCBI36] Chr2:2q35-36.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 |
copy number gain |
See cases [RCV000052958] |
Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 |
copy number gain |
See cases [RCV000052959] |
Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] |
Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] |
Chr2:212614422..227121230 [GRCh38] Chr2:213479146..227985946 [GRCh37] Chr2:213187391..227694190 [NCBI36] Chr2:2q34-36.3 |
pathogenic |
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000796175]|not provided [RCV000056763] |
Chr2:219420943 [GRCh38] Chr2:220285665 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|not provided |
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001380949]|not provided [RCV000056764] |
Chr2:219421340 [GRCh38] Chr2:220286062 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000799745]|not provided [RCV000056768] |
Chr2:219421380 [GRCh38] Chr2:220286102 [GRCh37] Chr2:2q35 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001927.4(DES):c.1069G>C (p.Ala357Pro) |
single nucleotide variant |
Myofibrillar myopathy [RCV000239682]|not provided [RCV000056769] |
Chr2:219421385 [GRCh38] Chr2:220286107 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) |
deletion |
Desmin-related myofibrillar myopathy [RCV002274893]|not provided [RCV000056770] |
Chr2:219421385..219421393 [GRCh38] Chr2:220286107..220286115 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.1099A>T (p.Ile367Phe) |
single nucleotide variant |
not provided [RCV000056772] |
Chr2:219421415 [GRCh38] Chr2:220286137 [GRCh37] Chr2:2q35 |
not provided |
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001043598]|not provided [RCV000056773] |
Chr2:219421425 [GRCh38] Chr2:220286147 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.1126C>T (p.His376Tyr) |
single nucleotide variant |
not provided [RCV000056774] |
Chr2:219421442 [GRCh38] Chr2:220286164 [GRCh37] Chr2:2q35 |
not provided |
NM_001927.4(DES):c.1175T>C (p.Leu392Pro) |
single nucleotide variant |
not provided [RCV000056777] |
Chr2:219421491 [GRCh38] Chr2:220286213 [GRCh37] Chr2:2q35 |
uncertain significance|not provided |
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265588]|not provided [RCV000056779] |
Chr2:219421511 [GRCh38] Chr2:220286233 [GRCh37] Chr2:2q35 |
likely pathogenic|not provided |
NM_001927.4(DES):c.1201G>A (p.Glu401Lys) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001064294]|not provided [RCV000056780] |
Chr2:219421517 [GRCh38] Chr2:220286239 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|not provided |
NM_001927.4(DES):c.1237G>A (p.Glu413Lys) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000685786]|not provided [RCV000056782] |
Chr2:219421553 [GRCh38] Chr2:220286275 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|not provided |
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162434]|Desmin-related myofibrillar myopathy [RCV001854165]|Dilated cardiomyopathy 1I [RCV002483084]|not provided [RCV000056785] |
Chr2:219425707 [GRCh38] Chr2:220290429 [GRCh37] Chr2:2q35 |
pathogenic|uncertain significance|not provided |
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001854166]|Myofibrillar myopathy [RCV000239724]|not provided [RCV000056786] |
Chr2:219425720 [GRCh38] Chr2:220290442 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|not provided |
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001854167]|not provided [RCV000056788] |
Chr2:219425732 [GRCh38] Chr2:220290454 [GRCh37] Chr2:2q35 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381360]|Desmin-related myofibrillar myopathy [RCV000684771]|Dilated cardiomyopathy 1I [RCV004795992]|Primary dilated cardiomyopathy [RCV000498999]|Primary dilated cardiomyopathy [RCV000844627]|Primary familial hypertrophic cardiomyopathy [RCV000155027]|not provided [RCV000056789] |
Chr2:219425734 [GRCh38] Chr2:220290456 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_001927.4(DES):c.1370A>T (p.Glu457Val) |
single nucleotide variant |
not provided [RCV000056790] |
Chr2:219425744 [GRCh38] Chr2:220290466 [GRCh37] Chr2:2q35 |
not provided |
NM_001927.4(DES):c.1379G>T (p.Ser460Ile) |
single nucleotide variant |
not provided [RCV000056792] |
Chr2:219425956 [GRCh38] Chr2:220290678 [GRCh37] Chr2:2q35 |
likely pathogenic|not provided |
NM_001927.4(DES):c.137C>A (p.Ser46Tyr) |
single nucleotide variant |
not provided [RCV000056793] |
Chr2:219418599 [GRCh38] Chr2:220283321 [GRCh37] Chr2:2q35 |
likely pathogenic|not provided |
NM_001927.4(DES):c.137C>T (p.Ser46Phe) |
single nucleotide variant |
not provided [RCV000056794] |
Chr2:219418599 [GRCh38] Chr2:220283321 [GRCh37] Chr2:2q35 |
likely pathogenic|not provided |
NM_001927.4(DES):c.1405G>A (p.Val469Met) |
single nucleotide variant |
not provided [RCV000056795] |
Chr2:219425982 [GRCh38] Chr2:220290704 [GRCh37] Chr2:2q35 |
not provided |
NM_001927.4(DES):c.322G>A (p.Glu108Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004018986]|Desmin-related myofibrillar myopathy [RCV001232668]|Dilated cardiomyopathy 1I [RCV002504955]|not provided [RCV000056796] |
Chr2:219418784 [GRCh38] Chr2:220283506 [GRCh37] Chr2:2q35 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001927.4(DES):c.338_339del (p.Gln113fs) |
deletion |
not provided [RCV000056797] |
Chr2:219418800..219418801 [GRCh38] Chr2:220283522..220283523 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.340_342del (p.Glu114del) |
deletion |
not provided [RCV000056798] |
Chr2:219418800..219418802 [GRCh38] Chr2:220283522..220283524 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.347A>G (p.Asn116Ser) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001384253]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV004767051]|not provided [RCV000056799] |
Chr2:219418809 [GRCh38] Chr2:220283531 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|not provided |
NM_001927.4(DES):c.35C>T (p.Ser12Phe) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001061421]|Primary dilated cardiomyopathy [RCV000154600]|not provided [RCV000056800] |
Chr2:219418497 [GRCh38] Chr2:220283219 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|not provided |
NM_001927.4(DES):c.46C>T (p.Arg16Cys) |
single nucleotide variant |
Myofibrillar myopathy [RCV000239680]|not provided [RCV000056802] |
Chr2:219418508 [GRCh38] Chr2:220283230 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|not provided |
NM_001927.4(DES):c.5G>T (p.Ser2Ile) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000794180]|Primary familial dilated cardiomyopathy [RCV004799771]|not provided [RCV000056804] |
Chr2:219418467 [GRCh38] Chr2:220283189 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001927.4(DES):c.640-1G>A |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265589]|not provided [RCV000056806] |
Chr2:219420250 [GRCh38] Chr2:220284972 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.640-2A>G |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001854168]|not provided [RCV000056807] |
Chr2:219420249 [GRCh38] Chr2:220284971 [GRCh37] Chr2:2q35 |
pathogenic|uncertain significance|not provided |
NM_001927.4(DES):c.735+2_735+11del |
deletion |
not provided [RCV000056809] |
Chr2:219420346..219420355 [GRCh38] Chr2:220285068..220285077 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.735+3A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002381361]|Desmin-related myofibrillar myopathy [RCV001233592]|Primary dilated cardiomyopathy [RCV000154574]|not provided [RCV000056810] |
Chr2:219420349 [GRCh38] Chr2:220285071 [GRCh37] Chr2:2q35 |
pathogenic|not provided |
NM_001927.4(DES):c.735G>C (p.Glu245Asp) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265590]|Dilated cardiomyopathy 1I [RCV002226454]|not provided [RCV000056811] |
Chr2:219420346 [GRCh38] Chr2:220285068 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|not provided |
NM_001927.4(DES):c.821T>C (p.Leu274Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV004776428]|not provided [RCV000056812] |
Chr2:219420580 [GRCh38] Chr2:220285302 [GRCh37] Chr2:2q35 |
likely pathogenic|not provided |
NM_001927.4(DES):c.821T>G (p.Leu274Arg) |
single nucleotide variant |
not provided [RCV000056813] |
Chr2:219420580 [GRCh38] Chr2:220285302 [GRCh37] Chr2:2q35 |
uncertain significance|not provided |
NM_001927.4(DES):c.893C>T (p.Ser298Leu) |
single nucleotide variant |
Cardiomyopathy [RCV000735983]|Cardiovascular phenotype [RCV003352761]|Desmin-related myofibrillar myopathy [RCV000466593]|Dilated cardiomyopathy 1I [RCV001142372]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001143228]|Primary dilated cardiomyopathy [RCV000171830]|not provided [RCV000056814] |
Chr2:219420652 [GRCh38] Chr2:220285374 [GRCh37] Chr2:219993618 [NCBI36] Chr2:2q35 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001927.4(DES):c.625G>C (p.Ala209Pro) |
single nucleotide variant |
not provided [RCV000658042] |
Chr2:219420141 [GRCh38] Chr2:220284863 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.723dup (p.Val242fs) |
duplication |
not provided [RCV000056808] |
Chr2:219420331..219420332 [GRCh38] Chr2:220285053..220285054 [GRCh37] Chr2:2q35 |
not provided |
NM_001927.4(DES):c.897+16C>T |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002055522]|not specified [RCV000124667] |
Chr2:219420672 [GRCh38] Chr2:220285394 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_001927.4(DES):c.324G>A (p.Glu108=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000250330]|Desmin-related myofibrillar myopathy [RCV000226557]|not provided [RCV001529031]|not specified [RCV000154551] |
Chr2:219418786 [GRCh38] Chr2:220283508 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001927.4(DES):c.1243C>G (p.Arg415Gly) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001367750]|not provided [RCV001762638] |
Chr2:219421559 [GRCh38] Chr2:220286281 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.216C>A (p.Ser72Arg) |
single nucleotide variant |
Cardiomyopathy [RCV001798625]|Cardiovascular phenotype [RCV002426827]|Desmin-related myofibrillar myopathy [RCV000463940]|Dilated cardiomyopathy 1I [RCV002265658]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001330866]|not provided [RCV000710118]|not specified [RCV001706118] |
Chr2:219418678 [GRCh38] Chr2:220283400 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_001927.4(DES):c.1133A>C (p.Lys378Thr) |
single nucleotide variant |
not provided [RCV000171884] |
Chr2:219421449 [GRCh38] Chr2:220286171 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1361G>A (p.Arg454Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298207]|Desmin-related myofibrillar myopathy [RCV001852085]|not provided [RCV000171885] |
Chr2:219425735 [GRCh38] Chr2:220290457 [GRCh37] Chr2:2q35 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.1404A>C (p.Glu468Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390410]|Desmin-related myofibrillar myopathy [RCV003105808]|not provided [RCV000171886] |
Chr2:219425981 [GRCh38] Chr2:220290703 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 |
copy number gain |
See cases [RCV000135934] |
Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3 |
pathogenic |
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 |
copy number gain |
See cases [RCV000138093] |
Chr2:219081620..219758878 [GRCh38] Chr2:219946342..220623600 [GRCh37] Chr2:219654586..220331844 [NCBI36] Chr2:2q35 |
uncertain significance |
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 |
copy number gain |
See cases [RCV000139446] |
Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 |
copy number gain |
See cases [RCV000142307] |
Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 |
copy number gain |
See cases [RCV000143216] |
Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3 |
pathogenic |
NM_001927.4(DES):c.243C>T (p.Ser81=) |
single nucleotide variant |
Cardiomyopathy [RCV003486705]|Cardiovascular phenotype [RCV000620327]|Desmin-related myofibrillar myopathy [RCV000471679]|not provided [RCV001697118]|not specified [RCV000156075] |
Chr2:219418705 [GRCh38] Chr2:220283427 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_001927.4(DES):c.735+1G>C |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265627] |
Chr2:219420347 [GRCh38] Chr2:220285069 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic |
NM_001927.4(DES):c.1189G>A (p.Ala397Thr) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV003764906]|not specified [RCV000150382] |
Chr2:219421505 [GRCh38] Chr2:220286227 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1374C>T (p.Val458=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162609]|Desmin-related myofibrillar myopathy [RCV001458336]|not specified [RCV000150383] |
Chr2:219425951 [GRCh38] Chr2:220290673 [GRCh37] Chr2:2q35 |
likely benign |
NM_001927.4(DES):c.79G>A (p.Gly27Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415673]|Desmin-related myofibrillar myopathy [RCV000700537]|not provided [RCV000766816]|not specified [RCV000156244] |
Chr2:219418541 [GRCh38] Chr2:220283263 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.75= (p.Pro25=) |
single nucleotide variant |
not specified [RCV000154433] |
Chr2:219418537 [GRCh38] Chr2:220283259 [GRCh37] Chr2:2q35 |
benign |
NM_001927.4(DES):c.93= (p.Ser31=) |
single nucleotide variant |
not specified [RCV000154434] |
Chr2:219418555 [GRCh38] Chr2:220283277 [GRCh37] Chr2:2q35 |
benign |
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001059931]|Primary dilated cardiomyopathy [RCV000154519]|Primary familial dilated cardiomyopathy [RCV002469028]|not provided [RCV000327525] |
Chr2:219423817 [GRCh38] Chr2:220288539 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic |
NM_001927.4(DES):c.635G>A (p.Arg212Gln) |
single nucleotide variant |
Cardiomyopathy [RCV001798502]|Cardiovascular phenotype [RCV002362812]|Desmin-related myofibrillar myopathy [RCV000229797]|Dilated cardiomyopathy 1I [RCV000307432]|Left ventricular noncompaction cardiomyopathy [RCV000157163]|Myofibrillar Myopathy, Dominant [RCV000406154]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000393436]|See cases [RCV001264391]|not provided [RCV000725364]|not specified [RCV000154696] |
Chr2:219420151 [GRCh38] Chr2:220284873 [GRCh37] Chr2:2q35 |
benign|likely benign|uncertain significance |
NM_001927.4(DES):c.665G>A (p.Arg222His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362813]|Desmin-related myofibrillar myopathy [RCV000540698]|Dilated cardiomyopathy 1I [RCV000260200]|Dilated cardiomyopathy 1I [RCV003483525]|Myofibrillar Myopathy, Dominant [RCV000379116]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000324508]|not provided [RCV001657879]|not specified [RCV000154697] |
Chr2:219420276 [GRCh38] Chr2:220284998 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001927.4(DES):c.250G>A (p.Gly84Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426711]|Desmin-related myofibrillar myopathy [RCV000474215]|not provided [RCV000724983]|not specified [RCV000150379] |
Chr2:219418712 [GRCh38] Chr2:220283434 [GRCh37] Chr2:2q35 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.600del (p.Lys201fs) |
deletion |
Cardiovascular phenotype [RCV003362695]|Desmin-related myofibrillar myopathy [RCV002514995]|Primary dilated cardiomyopathy [RCV000155417] |
Chr2:219420116 [GRCh38] Chr2:220284838 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_001927.4(DES):c.639+4_639+5del |
deletion |
Desmin-related myofibrillar myopathy [RCV002265630] |
Chr2:219420158..219420159 [GRCh38] Chr2:220284880..220284881 [GRCh37] Chr2:2q35 |
pathogenic |
NM_001927.4(DES):c.237G>A (p.Thr79=) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002056029]|not provided [RCV000153149] |
Chr2:219418699 [GRCh38] Chr2:220283421 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_001927.4(DES):c.1167G>T (p.Gln389His) |
single nucleotide variant |
not provided [RCV000179398] |
Chr2:219421483 [GRCh38] Chr2:220286205 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1245-3T>G |
single nucleotide variant |
Cardiovascular phenotype [RCV000246989]|Desmin-related myofibrillar myopathy [RCV002515283]|not provided [RCV000179841] |
Chr2:219423774 [GRCh38] Chr2:220288496 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1372-8C>T |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV003765107]|not provided [RCV000180580] |
Chr2:219425941 [GRCh38] Chr2:220290663 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_001927.4(DES):c.640-16G>A |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002054180]|Dilated cardiomyopathy 1I [RCV002492825]|not specified [RCV000183341] |
Chr2:219420235 [GRCh38] Chr2:220284957 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_001927.4(DES):c.-44G>A |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265669]|Dilated cardiomyopathy 1I [RCV000333461]|Myofibrillar Myopathy, Dominant [RCV000275289]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000386055]|not specified [RCV000183342] |
Chr2:219418419 [GRCh38] Chr2:220283141 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_001927.4(DES):c.-30_-18dup |
duplication |
not provided [RCV001529191]|not specified [RCV000183343] |
Chr2:219418432..219418433 [GRCh38] Chr2:220283154..220283155 [GRCh37] Chr2:2q35 |
pathogenic|benign |
NM_001927.4(DES):c.680G>A (p.Arg227His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362941]|Desmin-related myofibrillar myopathy [RCV001055164]|Dilated cardiomyopathy 1I [RCV002485223]|not provided [RCV000727063] |
Chr2:219420291 [GRCh38] Chr2:220285013 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.725T>A (p.Val242Glu) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV003765136]|not provided [RCV000183346] |
Chr2:219420336 [GRCh38] Chr2:220285058 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.727C>T (p.His243Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381603]|Desmin-related myofibrillar myopathy [RCV000473075]|Dilated cardiomyopathy 1I [RCV002478624]|not provided [RCV000183347] |
Chr2:219420338 [GRCh38] Chr2:220285060 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.832C>T (p.Arg278Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433812]|Desmin-related myofibrillar myopathy [RCV000693194]|not provided [RCV000183349] |
Chr2:219420591 [GRCh38] Chr2:220285313 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.883T>G (p.Trp295Gly) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001337313]|not provided [RCV000183350] |
Chr2:219420642 [GRCh38] Chr2:220285364 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.976C>T (p.His326Tyr) |
single nucleotide variant |
Cardiomyopathy [RCV001798637]|Desmin-related myofibrillar myopathy [RCV000459000]|not provided [RCV000183352] |
Chr2:219420906 [GRCh38] Chr2:220285628 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.1027G>A (p.Asp343Asn) |
single nucleotide variant |
Cardiomyopathy [RCV003486739]|Desmin-related myofibrillar myopathy [RCV000651546]|Dilated cardiomyopathy 1I [RCV002503715]|not provided [RCV000726231] |
Chr2:219421343 [GRCh38] Chr2:220286065 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298238]|Desmin-related myofibrillar myopathy [RCV000544077]|Dilated cardiomyopathy 1A [RCV001256941]|Dilated cardiomyopathy 1I [RCV002485224]|not provided [RCV001580010] |
Chr2:219421439 [GRCh38] Chr2:220286161 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1205T>C (p.Ile402Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345640]|Desmin-related myofibrillar myopathy [RCV000802498]|Dilated cardiomyopathy 1I [RCV004786503] |
Chr2:219421521 [GRCh38] Chr2:220286243 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381604]|Desmin-related myofibrillar myopathy [RCV000532526]|Dilated cardiomyopathy 1I [RCV002265670]|Dilated cardiomyopathy 1I [RCV002492826]|not provided [RCV000656841] |
Chr2:219421559 [GRCh38] Chr2:220286281 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance|not provided |
NM_001927.4(DES):c.1280A>G (p.Asn427Ser) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002515347]|not provided [RCV000183357] |
Chr2:219423812 [GRCh38] Chr2:220288534 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.146T>C (p.Val49Ala) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002513952]|not provided [RCV000183358] |
Chr2:219418608 [GRCh38] Chr2:220283330 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.154C>A (p.Arg52Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV000251066]|Desmin-related myofibrillar myopathy [RCV000233855]|not provided [RCV000766841]|not specified [RCV000183359] |
Chr2:219418616 [GRCh38] Chr2:220283338 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.166G>C (p.Val56Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617378]|Desmin-related myofibrillar myopathy [RCV000467504]|Dilated cardiomyopathy 1I [RCV002485225]|not provided [RCV000766842]|not specified [RCV000183360] |
Chr2:219418628 [GRCh38] Chr2:220283350 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1371+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV000622142]|Desmin-related myofibrillar myopathy [RCV000458158]|not provided [RCV000183362]|not specified [RCV000223904] |
Chr2:219425746 [GRCh38] Chr2:220290468 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.1371+1G>C |
single nucleotide variant |
not provided [RCV000183363] |
Chr2:219425746 [GRCh38] Chr2:220290468 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic |
NM_001927.4(DES):c.1412A>C (p.Ter471Ser) |
single nucleotide variant |
not provided [RCV000183364] |
Chr2:219425989 [GRCh38] Chr2:220290711 [GRCh37] Chr2:2q35 |
likely pathogenic |
NM_001927.4(DES):c.233G>T (p.Arg78Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020210]|Desmin-related myofibrillar myopathy [RCV000824328]|Dilated cardiomyopathy 1I [RCV002478625] |
Chr2:219418695 [GRCh38] Chr2:220283417 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.295C>G (p.Gln99Glu) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000691921]|not provided [RCV000183367] |
Chr2:219418757 [GRCh38] Chr2:220283479 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.299A>C (p.Glu100Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433813]|Desmin-related myofibrillar myopathy [RCV001852351]|not provided [RCV000183368] |
Chr2:219418761 [GRCh38] Chr2:220283483 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.313C>T (p.Arg105Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321729]|Desmin-related myofibrillar myopathy [RCV001211522] |
Chr2:219418775 [GRCh38] Chr2:220283497 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.364T>G (p.Tyr122Asp) |
single nucleotide variant |
not provided [RCV000183370] |
Chr2:219418826 [GRCh38] Chr2:220283548 [GRCh37] Chr2:2q35 |
likely pathogenic |
NM_001927.4(DES):c.634C>T (p.Arg212Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020211]|Desmin-related myofibrillar myopathy [RCV001380936]|Dilated cardiomyopathy 1I [RCV002478626]|not provided [RCV000183373] |
Chr2:219420150 [GRCh38] Chr2:220284872 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic |
NM_001927.4(DES):c.833G>C (p.Arg278Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001342240]|not provided [RCV000183374] |
Chr2:219420592 [GRCh38] Chr2:220285314 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1047G>A (p.Met349Ile) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV003765137]|not provided [RCV000183375] |
Chr2:219421363 [GRCh38] Chr2:220286085 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1324A>G (p.Thr442Ala) |
single nucleotide variant |
not provided [RCV000183376] |
Chr2:219425698 [GRCh38] Chr2:220290420 [GRCh37] Chr2:2q35 |
pathogenic|uncertain significance |
NM_001927.4(DES):c.358G>C (p.Ala120Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001852352]|not provided [RCV000183377] |
Chr2:219418820 [GRCh38] Chr2:220283542 [GRCh37] Chr2:2q35 |
pathogenic|uncertain significance |
NM_001927.4(DES):c.924C>T (p.Asn308=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374459]|DES-related disorder [RCV003939974]|Desmin-related myofibrillar myopathy [RCV001088971]|Dilated cardiomyopathy 1I [RCV000328732]|Myofibrillar Myopathy, Dominant [RCV000383286]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000264452]|not provided [RCV000725277]|not specified [RCV000265821] |
Chr2:219420854 [GRCh38] Chr2:220285576 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.1297C>A (p.Pro433Thr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000208119] |
Chr2:219425671 [GRCh38] Chr2:220290393 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.643G>A (p.Val215Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620253]|DES-related disorder [RCV003390956]|Desmin-related myofibrillar myopathy [RCV000651548]|Dilated cardiomyopathy 1I [RCV002467674]|Dilated cardiomyopathy 1I [RCV002485357]|Primary familial hypertrophic cardiomyopathy [RCV000208223]|not provided [RCV000725602]|not specified [RCV003330581] |
Chr2:219420254 [GRCh38] Chr2:220284976 [GRCh37] Chr2:2q35 |
pathogenic|likely benign|uncertain significance |
NM_001927.4(DES):c.736-9G>A |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000524631] |
Chr2:219420486 [GRCh38] Chr2:220285208 [GRCh37] Chr2:2q35 |
likely benign |
NM_001927.4(DES):c.1234G>A (p.Glu412Lys) |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV000208408] |
Chr2:219421550 [GRCh38] Chr2:220286272 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.212C>T (p.Ala71Val) |
single nucleotide variant |
Cardiomyopathy [RCV000208029]|Desmin-related myofibrillar myopathy [RCV001297826] |
Chr2:219418674 [GRCh38] Chr2:220283396 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.404C>T (p.Ala135Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321829]|Desmin-related myofibrillar myopathy [RCV001079455]|not provided [RCV000725598]|not specified [RCV000217198] |
Chr2:219418866 [GRCh38] Chr2:220283588 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.347A>T (p.Asn116Ile) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000651544]|not specified [RCV000217696] |
Chr2:219418809 [GRCh38] Chr2:220283531 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.894G>A (p.Ser298=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444853]|Desmin-related myofibrillar myopathy [RCV000556100]|not provided [RCV001726047]|not specified [RCV000213833] |
Chr2:219420653 [GRCh38] Chr2:220285375 [GRCh37] Chr2:2q35 |
likely benign |
NM_001927.4(DES):c.656C>T (p.Thr219Ile) |
single nucleotide variant |
Cardiomyopathy [RCV000770168]|Cardiovascular phenotype [RCV002363072]|Desmin-related myofibrillar myopathy [RCV001084978]|not provided [RCV000726722]|not specified [RCV000217963] |
Chr2:219420267 [GRCh38] Chr2:220284989 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.99C>T (p.Pro33=) |
single nucleotide variant |
Cardiomyopathy [RCV003486770]|Cardiovascular phenotype [RCV002381728]|DES-related disorder [RCV003929888]|Desmin-related myofibrillar myopathy [RCV001080097]|not provided [RCV000477613]|not specified [RCV000218133] |
Chr2:219418561 [GRCh38] Chr2:220283283 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001927.4(DES):c.376G>T (p.Val126Leu) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000820863]|not specified [RCV000214253] |
Chr2:219418838 [GRCh38] Chr2:220283560 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1372-3dup |
duplication |
Cardiovascular phenotype [RCV002381742]|DES-related disorder [RCV003897477]|Desmin-related myofibrillar myopathy [RCV001440302]|not provided [RCV000824726]|not specified [RCV000220968] |
Chr2:219425942..219425943 [GRCh38] Chr2:220290664..220290665 [GRCh37] Chr2:2q35 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.369del (p.Ile123fs) |
deletion |
Desmin-related myofibrillar myopathy [RCV001853441]|not specified [RCV000221238] |
Chr2:219418831 [GRCh38] Chr2:220283553 [GRCh37] Chr2:2q35 |
pathogenic|uncertain significance |
NM_001927.4(DES):c.937G>A (p.Ala313Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444861]|Desmin-related myofibrillar myopathy [RCV000819601]|Dilated cardiomyopathy 1I [RCV003335234]|not provided [RCV001570755]|not specified [RCV000219149] |
Chr2:219420867 [GRCh38] Chr2:220285589 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.639+13_639+15del |
microsatellite |
Desmin-related myofibrillar myopathy [RCV001467943]|not specified [RCV000221494] |
Chr2:219420165..219420167 [GRCh38] Chr2:220284887..220284889 [GRCh37] Chr2:2q35 |
likely benign |
NM_001927.4(DES):c.974G>A (p.Arg325Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020615]|Desmin-related myofibrillar myopathy [RCV000807006]|not specified [RCV000221526] |
Chr2:219420904 [GRCh38] Chr2:220285626 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.853G>A (p.Ala285Thr) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000804446]|not specified [RCV000221598] |
Chr2:219420612 [GRCh38] Chr2:220285334 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1353C>T (p.Ile451=) |
single nucleotide variant |
Cardiomyopathy [RCV001798700]|Cardiovascular phenotype [RCV000252451]|Desmin-related myofibrillar myopathy [RCV001085732]|not provided [RCV000725063]|not specified [RCV000219399] |
Chr2:219425727 [GRCh38] Chr2:220290449 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.1038G>A (p.Met346Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392690]|Desmin-related myofibrillar myopathy [RCV000230628]|Dilated cardiomyopathy 1I [RCV002487064]|not provided [RCV004772880] |
Chr2:219421354 [GRCh38] Chr2:220286076 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.218G>T (p.Arg73Leu) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000231650] |
Chr2:219418680 [GRCh38] Chr2:220283402 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.524G>A (p.Arg175His) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000231969]|not provided [RCV002261017] |
Chr2:219418986 [GRCh38] Chr2:220283708 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.449G>A (p.Arg150Gln) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001368093]|not provided [RCV002223198]|not specified [RCV000223735] |
Chr2:219418911 [GRCh38] Chr2:220283633 [GRCh37] Chr2:2q35 |
pathogenic|uncertain significance |
NM_001927.4(DES):c.1013T>C (p.Leu338Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000227930] |
Chr2:219420943 [GRCh38] Chr2:220285665 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.556G>T (p.Asp186Tyr) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000225879] |
Chr2:219419018 [GRCh38] Chr2:220283740 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1310G>A (p.Gly437Asp) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000228426] |
Chr2:219425684 [GRCh38] Chr2:220290406 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1159G>A (p.Glu387Lys) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000234622] |
Chr2:219421475 [GRCh38] Chr2:220286197 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.410C>A (p.Ala137Asp) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000229186] |
Chr2:219418872 [GRCh38] Chr2:220283594 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular cardiomyopathy [RCV000852535]|Cardiomyopathy [RCV001171066]|Desmin-related myofibrillar myopathy [RCV001855888]|not provided [RCV000757150] |
Chr2:219418827 [GRCh38] Chr2:220283549 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.736-35C>A |
single nucleotide variant |
not provided [RCV000830636]|not specified [RCV000246024] |
Chr2:219420460 [GRCh38] Chr2:220285182 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_001927.4(DES):c.286G>T (p.Ala96Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV000253402]|Desmin-related myofibrillar myopathy [RCV001211572]|Primary dilated cardiomyopathy [RCV003319190]|not provided [RCV000991884] |
Chr2:219418748 [GRCh38] Chr2:220283470 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.*468G>T |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265740]|Dilated cardiomyopathy 1I [RCV000316561]|Myofibrillar Myopathy, Dominant [RCV000285808]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000340737]|not provided [RCV001618590] |
Chr2:219426458 [GRCh38] Chr2:220291180 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_001927.4(DES):c.639G>A (p.Ala213=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004024280]|Desmin-related myofibrillar myopathy [RCV000547694] |
Chr2:219420155 [GRCh38] Chr2:220284877 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.-6G>A |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265737]|Dilated cardiomyopathy 1I [RCV000283203]|Myofibrillar Myopathy, Dominant [RCV000327635]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000289026]|not specified [RCV001293589] |
Chr2:219418457 [GRCh38] Chr2:220283179 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.609A>C (p.Glu203Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV000246738]|Desmin-related myofibrillar myopathy [RCV001215575]|not provided [RCV001538107]|not specified [RCV004800364] |
Chr2:219420125 [GRCh38] Chr2:220284847 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.579-38C>T |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265712]|Dilated cardiomyopathy 1I [RCV001660223]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001660224]|not provided [RCV000830418]|not specified [RCV000254468] |
Chr2:219420057 [GRCh38] Chr2:220284779 [GRCh37] Chr2:2q35 |
benign |
NM_001927.4(DES):c.637G>A (p.Ala213Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003338638]|Desmin-related myofibrillar myopathy [RCV000702212]|not provided [RCV000522498] |
Chr2:219420153 [GRCh38] Chr2:220284875 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.438C>G (p.Arg146=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000247616] |
Chr2:219418900 [GRCh38] Chr2:220283622 [GRCh37] Chr2:2q35 |
likely benign |
NM_001927.4(DES):c.109C>T (p.Arg37Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV000250161]|Desmin-related myofibrillar myopathy [RCV001217854]|Dilated cardiomyopathy 1I [RCV002494794]|not provided [RCV000594311]|not specified [RCV003114438] |
Chr2:219418571 [GRCh38] Chr2:220283293 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.*198G>A |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265738]|Dilated cardiomyopathy 1I [RCV000276898]|Myofibrillar Myopathy, Dominant [RCV000369044]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000333057] |
Chr2:219426188 [GRCh38] Chr2:220290910 [GRCh37] Chr2:2q35 |
benign|likely benign|uncertain significance |
NM_001927.4(DES):c.*662G>A |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265744]|Dilated cardiomyopathy 1I [RCV000377719]|Myofibrillar Myopathy, Dominant [RCV000322638]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000267489]|not provided [RCV001778926] |
Chr2:219426652 [GRCh38] Chr2:220291374 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_001927.4(DES):c.*588G>A |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265743]|Dilated Cardiomyopathy, Dominant [RCV000356739]|Myofibrillar Myopathy, Dominant [RCV000352997]|Scapuloperoneal weakness [RCV000316883] |
Chr2:219426578 [GRCh38] Chr2:220291300 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.*559G>A |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265742]|Dilated cardiomyopathy 1I [RCV000371046]|Myofibrillar Myopathy, Dominant [RCV000311255]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000307082] |
Chr2:219426549 [GRCh38] Chr2:220291271 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_001927.4(DES):c.735G>A (p.Glu245=) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001321146]|not provided [RCV000489159] |
Chr2:219420346 [GRCh38] Chr2:220285068 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.210G>C (p.Arg70=) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002059102]|not provided [RCV000725053]|not specified [RCV000302897] |
Chr2:219418672 [GRCh38] Chr2:220283394 [GRCh37] Chr2:2q35 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.184G>A (p.Gly62Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411171]|Desmin-related myofibrillar myopathy [RCV000686290]|not provided [RCV000726280] |
Chr2:219418646 [GRCh38] Chr2:220283368 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.708C>T (p.Ile236=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617379]|Desmin-related myofibrillar myopathy [RCV001431773]|not provided [RCV000339337] |
Chr2:219420319 [GRCh38] Chr2:220285041 [GRCh37] Chr2:2q35 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.1271C>T (p.Ser424Phe) |
single nucleotide variant |
not provided [RCV000274998] |
Chr2:219423803 [GRCh38] Chr2:220288525 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1223del (p.Leu408fs) |
deletion |
not provided [RCV000322209] |
Chr2:219421539 [GRCh38] Chr2:220286261 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic |
NM_001927.4(DES):c.-74C>T |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265736]|Dilated cardiomyopathy 1I [RCV000297648]|Myofibrillar Myopathy, Dominant [RCV000354916]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000262437] |
Chr2:219418389 [GRCh38] Chr2:220283111 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.*428G>C |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002265739]|Dilated cardiomyopathy 1I [RCV000320189]|Myofibrillar Myopathy, Dominant [RCV000274488]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000374631] |
Chr2:219426418 [GRCh38] Chr2:220291140 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1256C>T (p.Pro419Leu) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV003765652]|not provided [RCV000287300] |
Chr2:219423788 [GRCh38] Chr2:220288510 [GRCh37] Chr2:2q35 |
pathogenic|uncertain significance |
NM_001927.4(DES):c.579-5C>T |
single nucleotide variant |
not provided [RCV000353932] |
Chr2:219420090 [GRCh38] Chr2:220284812 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.97C>T (p.Pro33Ser) |
single nucleotide variant |
not provided [RCV000355468] |
Chr2:219418559 [GRCh38] Chr2:220283281 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.743G>A (p.Arg248His) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV003765691]|not provided [RCV000391221] |
Chr2:219420502 [GRCh38] Chr2:220285224 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617457]|Desmin-related myofibrillar myopathy [RCV000694336]|Dilated cardiomyopathy 1I [RCV002487276]|not provided [RCV000357490]|not specified [RCV003226276] |
Chr2:219423818 [GRCh38] Chr2:220288540 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1158C>T (p.Arg386=) |
single nucleotide variant |
Cardiomyopathy [RCV001171070]|Cardiovascular phenotype [RCV002365317]|Desmin-related myofibrillar myopathy [RCV000651545]|not provided [RCV000725757] |
Chr2:219421474 [GRCh38] Chr2:220286196 [GRCh37] Chr2:2q35 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.822C>T (p.Leu274=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429223]|Desmin-related myofibrillar myopathy [RCV001078951]|not provided [RCV000292844] |
Chr2:219420581 [GRCh38] Chr2:220285303 [GRCh37] Chr2:2q35 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.1030T>C (p.Ser344Pro) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002519324]|not provided [RCV000326408] |
Chr2:219421346 [GRCh38] Chr2:220286068 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.944G>A (p.Arg315His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374483]|Desmin-related myofibrillar myopathy [RCV001373833]|not provided [RCV000401481] |
Chr2:219420874 [GRCh38] Chr2:220285596 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.30C>A (p.Arg10=) |
single nucleotide variant |
not provided [RCV000295730] |
Chr2:219418492 [GRCh38] Chr2:220283214 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.567G>C (p.Arg189=) |
single nucleotide variant |
not provided [RCV000402143] |
Chr2:219419029 [GRCh38] Chr2:220283751 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.-7C>G |
single nucleotide variant |
Dilated cardiomyopathy 1I [RCV001330868]|not provided [RCV000726440]|not specified [RCV000297231] |
Chr2:219418456 [GRCh38] Chr2:220283178 [GRCh37] Chr2:2q35 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.373A>T (p.Lys125Ter) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000700283]|not provided [RCV000261318] |
Chr2:219418835 [GRCh38] Chr2:220283557 [GRCh37] Chr2:2q35 |
pathogenic |
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000810748]|not provided [RCV000296486] |
Chr2:219425988 [GRCh38] Chr2:220290710 [GRCh37] Chr2:2q35 |
likely pathogenic|uncertain significance |
NM_001927.4(DES):c.1213del (p.Tyr405fs) |
deletion |
Desmin-related myofibrillar myopathy [RCV000696661]|not provided [RCV000283285] |
Chr2:219421529 [GRCh38] Chr2:220286251 [GRCh37] Chr2:2q35 |
pathogenic |
NM_001927.4(DES):c.1180G>A (p.Val394Met) |
single nucleotide variant |
Cardiomyopathy [RCV001171071]|Cardiovascular phenotype [RCV003352824]|DES-related disorder [RCV004742370]|Desmin-related myofibrillar myopathy [RCV001441657]|not provided [RCV000335144] |
Chr2:219421496 [GRCh38] Chr2:220286218 [GRCh37] Chr2:2q35 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001927.4(DES):c.25C>G (p.Gln9Glu) |
single nucleotide variant |
not provided [RCV000334577] |
Chr2:219418487 [GRCh38] Chr2:220283209 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.768A>G (p.Glu256=) |
single nucleotide variant |
not provided [RCV000405432] |
Chr2:219420527 [GRCh38] Chr2:220285249 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.817G>T (p.Ala273Ser) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV001313664]|not provided [RCV000408094] |
Chr2:219420576 [GRCh38] Chr2:220285298 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.802C>G (p.Pro268Ala) |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV000531257]|not provided [RCV001529745] |
Chr2:219420561 [GRCh38] Chr2:220285283 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 |
copy number loss |
not provided [RCV000585275] |
Chr2:217374144..227643620 [GRCh37] Chr2:2q35-36.3 |
likely pathogenic |
NM_001927.4(DES):c.1231_1237del (p.Gly411fs) |
deletion |
not provided [RCV001781638] |
Chr2:219421546..219421552 [GRCh38] Chr2:220286268..220286274 [GRCh37] Chr2:2q35 |
pathogenic |
NM_001927.4(DES):c.735+2T>G |
single nucleotide variant |
Desmin-related myofibrillar myopathy [RCV002283933] |
Chr2:219420348 [GRCh38] Chr2:220285070 [GRCh37] Chr2:2q35 |
likely pathogenic |
NM_001927.4(DES):c.728A>G (p.His243Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002384016]|Desmin-related myofibrillar myopathy [RCV001853673]|Dilated cardiomyopathy 1I [RCV001139742]|Dilated cardiomyopathy 1I [RCV002481724]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001139744]|not provided [RCV000523746] |
Chr2:219420339 [GRCh38] Chr2:220285061 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_001927.4(DES):c.1275C>T (p.Ala425=) |
single nucleotide variant |
not provided [RCV000598028] |
Chr2:219423807 [GRCh38] Chr2:220288529 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_001927.4(DES):c.167T>A (p.Val56Glu) |
sin |