| NM_006790.3(MYOT):c.98G>T (p.Ser33Ile) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000526830] |
Chr5:137870749 [GRCh38]
Chr5:137206438 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.17G>A (p.Arg6His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000023360]|not provided [RCV001588824] |
Chr5:137870668 [GRCh38]
Chr5:137206357 [GRCh37]
Chr5:5q31.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000639976]|not provided [RCV000424803] |
Chr5:137870821 [GRCh38]
Chr5:137206510 [GRCh37]
Chr5:5q31.2 |
pathogenic |
| NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000794536]|Progressive distal muscle weakness [RCV000414759]|Urinary bladder sphincter dysfunction [RCV000626902]|not provided [RCV001091589] |
Chr5:137870815 [GRCh38]
Chr5:137206504 [GRCh37]
Chr5:5q31.2 |
pathogenic|likely pathogenic |
| NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000006193]|Myofibrillar myopathy [RCV000239643]|not provided [RCV000725007] |
Chr5:137870830 [GRCh38]
Chr5:137206519 [GRCh37]
Chr5:5q31.2 |
pathogenic |
| NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) |
single nucleotide variant |
MYOT-related disorder [RCV003415664]|Myofibrillar myopathy 3 [RCV000006194]|not provided [RCV000725464] |
Chr5:137870830 [GRCh38]
Chr5:137206519 [GRCh37]
Chr5:5q31.2 |
pathogenic|likely pathogenic |
| NM_006790.3(MYOT):c.284G>T (p.Ser95Ile) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000006195] |
Chr5:137870935 [GRCh38]
Chr5:137206624 [GRCh37]
Chr5:5q31.2 |
pathogenic |
| NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002512824]|not provided [RCV000516381] |
Chr5:137870767 [GRCh38]
Chr5:137206456 [GRCh37]
Chr5:5q31.2 |
pathogenic|likely pathogenic |
| NM_006790.3(MYOT):c.372del (p.Ala125fs) |
deletion |
Myofibrillar myopathy 3 [RCV000543818]|not provided [RCV004691873] |
Chr5:137875844 [GRCh38]
Chr5:137211533 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.808G>C (p.Asp270His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002536430]|not provided [RCV000729505] |
Chr5:137882097 [GRCh38]
Chr5:137217786 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 |
copy number gain |
See cases [RCV000051193] |
Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2 |
pathogenic |
| GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1 |
copy number loss |
See cases [RCV000052114] |
Chr5:133401565..138437038 [GRCh38]
Chr5:132737257..137772727 [GRCh37]
Chr5:132765156..137800626 [NCBI36]
Chr5:5q31.1-31.2 |
pathogenic |
| GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 |
copy number loss |
See cases [RCV000053524] |
Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2 |
pathogenic |
| NM_006790.3(MYOT):c.122T>C (p.Ile41Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001854569]|not provided [RCV000117696] |
Chr5:137870773 [GRCh38]
Chr5:137206462 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.107_110del (p.Lys36fs) |
deletion |
Myofibrillar myopathy 3 [RCV002513830]|not provided [RCV000389897] |
Chr5:137870756..137870759 [GRCh38]
Chr5:137206445..137206448 [GRCh37]
Chr5:5q31.2 |
pathogenic|uncertain significance |
| NM_006790.3(MYOT):c.1190+7T>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000541018]|not specified [RCV000081462] |
Chr5:137886220 [GRCh38]
Chr5:137221909 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006790.3(MYOT):c.120T>A (p.Ile40=) |
single nucleotide variant |
MYOT-related disorder [RCV003925069]|Myofibrillar myopathy 3 [RCV001089171]|not provided [RCV000723630]|not specified [RCV003330427] |
Chr5:137870771 [GRCh38]
Chr5:137206460 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) |
single nucleotide variant |
MYOT-related disorder [RCV003905063]|Myofibrillar myopathy 3 [RCV001086003]|not provided [RCV000757546]|not specified [RCV000081464] |
Chr5:137870994 [GRCh38]
Chr5:137206683 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006790.3(MYOT):c.445G>C (p.Glu149Gln) |
single nucleotide variant |
Heart failure [RCV000852992]|MYOT-related disorder [RCV003891562]|Myofibrillar myopathy 3 [RCV000549314]|not provided [RCV001719841]|not specified [RCV000249839] |
Chr5:137875917 [GRCh38]
Chr5:137211606 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|uncertain significance |
| NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000289054]|MYOT-related disorder [RCV003915079]|Myofibrillar Myopathy, Dominant [RCV000383375]|Myofibrillar myopathy 3 [RCV000639982]|not provided [RCV001704002]|not specified [RCV000081466] |
Chr5:137877605 [GRCh38]
Chr5:137213294 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000345696]|Myofibrillar myopathy 3 [RCV000576436]|not provided [RCV001795171]|not specified [RCV000117697] |
Chr5:137870800 [GRCh38]
Chr5:137206489 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_006790.3(MYOT):c.780G>A (p.Ser260=) |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000340638]|Myofibrillar myopathy 3 [RCV000576640]|not provided [RCV004704864]|not specified [RCV000117698] |
Chr5:137882069 [GRCh38]
Chr5:137217758 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006790.3(MYOT):c.1397T>G (p.Leu466Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003313003] |
Chr5:137887285 [GRCh38]
Chr5:137222974 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1008G>T (p.Val336=) |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000330327]|Myofibrillar Myopathy, Dominant [RCV000366367]|Myofibrillar myopathy 3 [RCV000528295]|not provided [RCV001727618]|not specified [RCV000179926] |
Chr5:137883575 [GRCh38]
Chr5:137219264 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006790.3(MYOT):c.686G>T (p.Ser229Ile) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149187] |
Chr5:137881975 [GRCh38]
Chr5:137217664 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1442G>A (p.Gly481Glu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001348614] |
Chr5:137887330 [GRCh38]
Chr5:137223019 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 |
copy number gain |
See cases [RCV000133750] |
Chr5:135297294..140106003 [GRCh38]
Chr5:134632984..139485588 [GRCh37]
Chr5:134660883..139465772 [NCBI36]
Chr5:5q31.1-31.3 |
pathogenic |
| GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 |
copy number gain |
See cases [RCV000134725] |
Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3 |
pathogenic |
| GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 |
copy number gain |
See cases [RCV000138808] |
Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2 |
pathogenic |
| NM_006790.3(MYOT):c.220= (p.Gln74=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000987603]|not provided [RCV001636695]|not specified [RCV000153527] |
Chr5:137870871 [GRCh38]
Chr5:137206560 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004019839]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000378013]|Myofibrillar Myopathy, Dominant [RCV000323304]|Myofibrillar myopathy 3 [RCV001437646]|not provided [RCV000723809] |
Chr5:137886876 [GRCh38]
Chr5:137222565 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002516082]|Myofibrillar myopathy 3 [RCV001088448]|not provided [RCV000153529] |
Chr5:137887327 [GRCh38]
Chr5:137223016 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.981T>C (p.Asn327=) |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000297152]|MYOT-related disorder [RCV003891747]|Myofibrillar Myopathy, Dominant [RCV000407175]|Myofibrillar myopathy 3 [RCV000550832]|not provided [RCV001704856]|not specified [RCV000244276] |
Chr5:137883548 [GRCh38]
Chr5:137219237 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|uncertain significance |
| NM_006790.3(MYOT):c.1152A>G (p.Arg384=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001449191]|not provided [RCV000180304] |
Chr5:137886175 [GRCh38]
Chr5:137221864 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.1265C>T (p.Thr422Ile) |
single nucleotide variant |
not provided [RCV000180634] |
Chr5:137886938 [GRCh38]
Chr5:137222627 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.335T>A (p.Ile112Asn) |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000262153]|Myofibrillar Myopathy, Dominant [RCV000302323]|Myofibrillar myopathy 3 [RCV001246839] |
Chr5:137870986 [GRCh38]
Chr5:137206675 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000402251]|MYOT-related disorder [RCV003417907]|Myofibrillar Myopathy, Dominant [RCV000335309]|Myofibrillar myopathy 3 [RCV000639970]|not provided [RCV000295763]|not specified [RCV003323496] |
Chr5:137886959 [GRCh38]
Chr5:137222648 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) |
single nucleotide variant |
Heart failure [RCV000852990]|Inborn genetic diseases [RCV002519080]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000360760]|Myofibrillar Myopathy, Dominant [RCV000306075]|Myofibrillar myopathy 3 [RCV001085861]|not provided [RCV000381509] |
Chr5:137870974 [GRCh38]
Chr5:137206663 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.314C>T (p.Pro105Leu) |
single nucleotide variant |
not specified [RCV000227195] |
Chr5:137870965 [GRCh38]
Chr5:137206654 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1025-41dup |
duplication |
not specified [RCV000250952] |
Chr5:137886001..137886002 [GRCh38]
Chr5:137221690..137221691 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.642C>T (p.Asn214=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001494190] |
Chr5:137880824 [GRCh38]
Chr5:137216513 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.*418T>C |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000373176]|Myofibrillar Myopathy, Dominant [RCV000318551]|Myofibrillar myopathy 3 [RCV001151708] |
Chr5:137887803 [GRCh38]
Chr5:137223492 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.*190C>G |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000282216]|Myofibrillar myopathy 3 [RCV000376796]|not provided [RCV001718755] |
Chr5:137887575 [GRCh38]
Chr5:137223264 [GRCh37]
Chr5:5q31.2 |
benign|likely benign |
| NM_006790.3(MYOT):c.571G>C (p.Gly191Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000639979]|not specified [RCV000241609] |
Chr5:137877559 [GRCh38]
Chr5:137213248 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006790.3(MYOT):c.-251A>G |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000383989]|Myofibrillar myopathy 3 [RCV000269425]|not provided [RCV001643065] |
Chr5:137867914 [GRCh38]
Chr5:137203603 [GRCh37]
Chr5:5q31.2 |
benign|likely benign |
| NM_006790.3(MYOT):c.816+30A>G |
single nucleotide variant |
not specified [RCV000246918] |
Chr5:137882135 [GRCh38]
Chr5:137217824 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.*98G>A |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000270937]|Myofibrillar myopathy 3 [RCV000365421]|not provided [RCV001718754] |
Chr5:137887483 [GRCh38]
Chr5:137223172 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.630G>A (p.Ser210=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000872884]|not provided [RCV001582866]|not specified [RCV000247228] |
Chr5:137877618 [GRCh38]
Chr5:137213307 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006790.3(MYOT):c.822T>C (p.Ser274=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001088508]|not provided [RCV000712369]|not specified [RCV000252494] |
Chr5:137883389 [GRCh38]
Chr5:137219078 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006790.3(MYOT):c.634-15T>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002058215]|not specified [RCV000250367] |
Chr5:137880801 [GRCh38]
Chr5:137216490 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.1190+12A>G |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000326650]|Myofibrillar Myopathy, Dominant [RCV000271634]|Myofibrillar myopathy 3 [RCV001254012]|not specified [RCV000609892] |
Chr5:137886225 [GRCh38]
Chr5:137221914 [GRCh37]
Chr5:5q31.2 |
benign|likely benign |
| NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002523506]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000317621]|Myofibrillar Myopathy, Dominant [RCV000372249]|Myofibrillar myopathy 3 [RCV000875382]|not specified [RCV000598161] |
Chr5:137870994 [GRCh38]
Chr5:137206683 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.-233C>A |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000330569]|Myofibrillar Myopathy, Dominant [RCV000387511]|Myofibrillar myopathy 3 [RCV001154434] |
Chr5:137867932 [GRCh38]
Chr5:137203621 [GRCh37]
Chr5:5q31.2 |
benign|likely benign |
| NM_006790.3(MYOT):c.817-11T>C |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000355681]|Myofibrillar Myopathy, Dominant [RCV000300821]|Myofibrillar myopathy 3 [RCV002520316] |
Chr5:137883373 [GRCh38]
Chr5:137219062 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.533G>A (p.Arg178His) |
single nucleotide variant |
Inborn genetic diseases [RCV002523507]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000347504]|MYOT-related disorder [RCV003950243]|Myofibrillar Myopathy, Dominant [RCV000386833]|Myofibrillar myopathy 3 [RCV000874867]|not provided [RCV001557068]|not specified [RCV000594719] |
Chr5:137877521 [GRCh38]
Chr5:137213210 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.*463C>T |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000352566]|Myofibrillar Myopathy, Dominant [RCV000401293]|Myofibrillar myopathy 3 [RCV001151709] |
Chr5:137887848 [GRCh38]
Chr5:137223537 [GRCh37]
Chr5:5q31.2 |
benign|likely benign |
| NM_006790.3(MYOT):c.-165C>T |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000352820]|Myofibrillar Myopathy, Dominant [RCV000295567]|Myofibrillar myopathy 3 [RCV003312995] |
Chr5:137870487 [GRCh38]
Chr5:137206176 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002523508]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000367931]|Myofibrillar Myopathy, Dominant [RCV000391315]|Myofibrillar myopathy 3 [RCV000529217]|not provided [RCV000487879] |
Chr5:137887289 [GRCh38]
Chr5:137222978 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1102C>T (p.Leu368=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001438813]|not provided [RCV000271359] |
Chr5:137886125 [GRCh38]
Chr5:137221814 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.1401T>C (p.Asn467=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001078699]|not provided [RCV000726159] |
Chr5:137887289 [GRCh38]
Chr5:137222978 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.252G>A (p.Arg84=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002519355]|not provided [RCV000317026] |
Chr5:137870903 [GRCh38]
Chr5:137206592 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.531+4G>C |
single nucleotide variant |
not provided [RCV000352625] |
Chr5:137876007 [GRCh38]
Chr5:137211696 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.342C>T (p.Ser114=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001087278]|not provided [RCV000353610] |
Chr5:137870993 [GRCh38]
Chr5:137206682 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.1083dup (p.Glu362fs) |
duplication |
not provided [RCV000287496] |
Chr5:137886105..137886106 [GRCh38]
Chr5:137221794..137221795 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.563G>T (p.Arg188Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004955381]|Myofibrillar myopathy 3 [RCV000639974]|not provided [RCV000320489] |
Chr5:137877551 [GRCh38]
Chr5:137213240 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1398T>G (p.Leu466=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001410801]|not provided [RCV000392345]|not specified [RCV004999228] |
Chr5:137887286 [GRCh38]
Chr5:137222975 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.96T>C (p.Ser32=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002518105]|not provided [RCV000287209] |
Chr5:137870747 [GRCh38]
Chr5:137206436 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.588T>C (p.Ala196=) |
single nucleotide variant |
not provided [RCV000288204] |
Chr5:137877576 [GRCh38]
Chr5:137213265 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.656G>A (p.Arg219Gln) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001347445]|not provided [RCV000288296] |
Chr5:137880838 [GRCh38]
Chr5:137216527 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.34C>G (p.Gln12Glu) |
single nucleotide variant |
not provided [RCV000290087] |
Chr5:137870685 [GRCh38]
Chr5:137206374 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1453C>T (p.Arg485Cys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001041699]|not provided [RCV000323775] |
Chr5:137887341 [GRCh38]
Chr5:137223030 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.240C>T (p.Asn80=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000639978]|not provided [RCV001697633]|not specified [RCV000292433] |
Chr5:137870891 [GRCh38]
Chr5:137206580 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006790.3(MYOT):c.634-14_634-10del |
deletion |
Myofibrillar myopathy 3 [RCV002059250]|not provided [RCV000294314] |
Chr5:137880799..137880803 [GRCh38]
Chr5:137216491..137216495 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.61T>C (p.Leu21=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001495333]|not provided [RCV000294470] |
Chr5:137870712 [GRCh38]
Chr5:137206401 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.282C>T (p.Ala94=) |
single nucleotide variant |
not provided [RCV000328140] |
Chr5:137870933 [GRCh38]
Chr5:137206622 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1275A>G (p.Ala425=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001088610]|not provided [RCV000725807]|not specified [RCV000363482] |
Chr5:137886948 [GRCh38]
Chr5:137222637 [GRCh37]
Chr5:5q31.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.*167A>G |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000267259]|Myofibrillar Myopathy, Dominant [RCV000325810]|Myofibrillar myopathy 3 [RCV003312997] |
Chr5:137887552 [GRCh38]
Chr5:137223241 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1411T>C (p.Leu471=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002059189]|not provided [RCV000366498] |
Chr5:137887299 [GRCh38]
Chr5:137222988 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000812032]|not provided [RCV000725246] |
Chr5:137887301 [GRCh38]
Chr5:137222990 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.934G>T (p.Val312Leu) |
single nucleotide variant |
not provided [RCV000332987] |
Chr5:137883501 [GRCh38]
Chr5:137219190 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.129G>C (p.Gln43His) |
single nucleotide variant |
not provided [RCV000367939] |
Chr5:137870780 [GRCh38]
Chr5:137206469 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.220C>A (p.Gln74Lys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001079228]|not provided [RCV000712368]|not specified [RCV000615351] |
Chr5:137870871 [GRCh38]
Chr5:137206560 [GRCh37]
Chr5:5q31.2 |
benign|likely benign |
| GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 |
copy number gain |
not provided [RCV000487658] |
Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3 |
likely benign |
| NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001338667]|not provided [RCV000595613] |
Chr5:137886973 [GRCh38]
Chr5:137222662 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003243182]|Myofibrillar myopathy 3 [RCV000553497] |
Chr5:137887233 [GRCh38]
Chr5:137222922 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1222T>C (p.Leu408=) |
single nucleotide variant |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000283661]|Myofibrillar Myopathy, Dominant [RCV000399662]|Myofibrillar myopathy 3 [RCV001154653]|not provided [RCV002472993] |
Chr5:137886895 [GRCh38]
Chr5:137222584 [GRCh37]
Chr5:5q31.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.-89del |
deletion |
Limb-Girdle Muscular Dystrophy, Dominant [RCV000294444]|Myofibrillar Myopathy, Dominant [RCV000399508]|Myofibrillar myopathy 3 [RCV003312996] |
Chr5:137870562 [GRCh38]
Chr5:137206251 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.683+10T>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001415768]|not provided [RCV000591750] |
Chr5:137880875 [GRCh38]
Chr5:137216564 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.1324+8A>G |
single nucleotide variant |
not provided [RCV000597074] |
Chr5:137887005 [GRCh38]
Chr5:137222694 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.257C>A (p.Thr86Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004955692]|Myofibrillar myopathy 3 [RCV000639973]|not provided [RCV000593051] |
Chr5:137870908 [GRCh38]
Chr5:137206597 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1275A>T (p.Ala425=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000639980] |
Chr5:137886948 [GRCh38]
Chr5:137222637 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.999C>A (p.Thr333=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000639981] |
Chr5:137883566 [GRCh38]
Chr5:137219255 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.67C>T (p.Pro23Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000794579]|not provided [RCV000731979] |
Chr5:137870718 [GRCh38]
Chr5:137206407 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.464A>C (p.Glu155Ala) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001855832]|not provided [RCV000735130] |
Chr5:137875936 [GRCh38]
Chr5:137211625 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.629C>T (p.Ser210Leu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001046038]|not provided [RCV000734755] |
Chr5:137877617 [GRCh38]
Chr5:137213306 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1191-272C>G |
single nucleotide variant |
not provided [RCV001572066] |
Chr5:137886592 [GRCh38]
Chr5:137222281 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1404G>C (p.Gly468=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001418317] |
Chr5:137887292 [GRCh38]
Chr5:137222981 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.255T>C (p.Val85=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001497098]|not provided [RCV000732518] |
Chr5:137870906 [GRCh38]
Chr5:137206595 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.782T>C (p.Ile261Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001373347]|not provided [RCV000732547] |
Chr5:137882071 [GRCh38]
Chr5:137217760 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.870T>A (p.Val290=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001436389]|not provided [RCV000734799] |
Chr5:137883437 [GRCh38]
Chr5:137219126 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.1208C>G (p.Thr403Ser) |
single nucleotide variant |
not provided [RCV000734801] |
Chr5:137886881 [GRCh38]
Chr5:137222570 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1317C>T (p.Asp439=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001475961]|not provided [RCV000594706] |
Chr5:137886990 [GRCh38]
Chr5:137222679 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.679G>A (p.Val227Ile) |
single nucleotide variant |
not provided [RCV000594792] |
Chr5:137880861 [GRCh38]
Chr5:137216550 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.594G>A (p.Val198=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001084419]|not provided [RCV000734882] |
Chr5:137877582 [GRCh38]
Chr5:137213271 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003485637]|not provided [RCV000730932] |
Chr5:137886149 [GRCh38]
Chr5:137221838 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 |
copy number gain |
See cases [RCV000449349] |
Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_006790.3(MYOT):c.*15T>C |
single nucleotide variant |
not specified [RCV000421419] |
Chr5:137887400 [GRCh38]
Chr5:137223089 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1335C>T (p.Asn445=) |
single nucleotide variant |
MYOT-related disorder [RCV003959957]|Myofibrillar myopathy 3 [RCV001501830]|not provided [RCV000727303]|not specified [RCV000442443] |
Chr5:137887223 [GRCh38]
Chr5:137222912 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.858T>C (p.Asn286=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003505114]|not specified [RCV000422045] |
Chr5:137883425 [GRCh38]
Chr5:137219114 [GRCh37]
Chr5:5q31.2 |
likely benign |
| GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 |
copy number gain |
See cases [RCV000448245] |
Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3 |
pathogenic |
| GRCh37/hg19 5q31.2(chr5:136667092-137380603)x3 |
copy number gain |
See cases [RCV000447839] |
Chr5:136667092..137380603 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1497A>T (p.Ter499Tyr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000554405] |
Chr5:137887385 [GRCh38]
Chr5:137223074 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.758T>C (p.Ile253Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001217128]|not provided [RCV000497521] |
Chr5:137882047 [GRCh38]
Chr5:137217736 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NC_000005.9:g.(?_86400000)_(154000000_?)del |
deletion |
Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] |
Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2 |
pathogenic |
| NM_006790.3(MYOT):c.1386A>G (p.Lys462=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003615847]|not provided [RCV000596405] |
Chr5:137887274 [GRCh38]
Chr5:137222963 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.414T>C (p.Asn138=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002065173]|not provided [RCV000597889] |
Chr5:137875886 [GRCh38]
Chr5:137211575 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.391G>T (p.Ala131Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000536530] |
Chr5:137875863 [GRCh38]
Chr5:137211552 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.586G>A (p.Ala196Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003277122] |
Chr5:137877574 [GRCh38]
Chr5:137213263 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.471G>A (p.Leu157=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001447420] |
Chr5:137875943 [GRCh38]
Chr5:137211632 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.816+5G>T |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000639977] |
Chr5:137882110 [GRCh38]
Chr5:137217799 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.49T>C (p.Cys17Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000537434] |
Chr5:137870700 [GRCh38]
Chr5:137206389 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.387A>G (p.Ile129Met) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000560480] |
Chr5:137875859 [GRCh38]
Chr5:137211548 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.937G>A (p.Val313Ile) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000639972] |
Chr5:137883504 [GRCh38]
Chr5:137219193 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.683+8del |
deletion |
Myofibrillar myopathy 3 [RCV001080334]|not provided [RCV000594296] |
Chr5:137880868 [GRCh38]
Chr5:137216557 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.398C>T (p.Pro133Leu) |
single nucleotide variant |
Heart failure [RCV000852991]|Inborn genetic diseases [RCV004957932]|Myofibrillar myopathy 3 [RCV000639971] |
Chr5:137875870 [GRCh38]
Chr5:137211559 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.359A>G (p.Tyr120Cys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000639975] |
Chr5:137875831 [GRCh38]
Chr5:137211520 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.998C>T (p.Thr333Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV000623121]|Myofibrillar myopathy 3 [RCV001855311]|not provided [RCV003480719] |
Chr5:137883565 [GRCh38]
Chr5:137219254 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.653C>A (p.Ala218Glu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000687304] |
Chr5:137880835 [GRCh38]
Chr5:137216524 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.145G>C (p.Glu49Gln) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000692676] |
Chr5:137870796 [GRCh38]
Chr5:137206485 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) |
single nucleotide variant |
Cardiomyopathy [RCV000852561]|Inborn genetic diseases [RCV003362922]|Myofibrillar myopathy 3 [RCV000707221]|not provided [RCV000992419] |
Chr5:137887252 [GRCh38]
Chr5:137222941 [GRCh37]
Chr5:5q31.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.1364G>C (p.Arg455Pro) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000704667] |
Chr5:137887252 [GRCh38]
Chr5:137222941 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000704688] |
Chr5:137870652 [GRCh38]
Chr5:137206341 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_006790.3(MYOT):c.684-26T>C |
single nucleotide variant |
not provided [RCV001725708] |
Chr5:137881947 [GRCh38]
Chr5:137217636 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.-211-174T>A |
single nucleotide variant |
not provided [RCV001534634] |
Chr5:137870267 [GRCh38]
Chr5:137205956 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.-211-152AC[24] |
microsatellite |
not provided [RCV001586162] |
Chr5:137870288..137870289 [GRCh38]
Chr5:137205977..137205978 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1325-4T>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000960718] |
Chr5:137887209 [GRCh38]
Chr5:137222898 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.888C>T (p.His296=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001455938] |
Chr5:137883455 [GRCh38]
Chr5:137219144 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1418T>C (p.Val473Ala) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001050862] |
Chr5:137887306 [GRCh38]
Chr5:137222995 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.966A>G (p.Ala322=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001044672] |
Chr5:137883533 [GRCh38]
Chr5:137219222 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004958380]|Myofibrillar myopathy 3 [RCV001041615] |
Chr5:137881975 [GRCh38]
Chr5:137217664 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1346del (p.Pro449fs) |
deletion |
Myofibrillar myopathy 3 [RCV001484659] |
Chr5:137887233 [GRCh38]
Chr5:137222922 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.438T>C (p.Pro146=) |
single nucleotide variant |
not provided [RCV000940047] |
Chr5:137875910 [GRCh38]
Chr5:137211599 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.654G>A (p.Ala218=) |
single nucleotide variant |
MYOT-related disorder [RCV003948229]|Myofibrillar myopathy 3 [RCV001471001] |
Chr5:137880836 [GRCh38]
Chr5:137216525 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1452G>A (p.Gln484=) |
single nucleotide variant |
not provided [RCV000937992] |
Chr5:137887340 [GRCh38]
Chr5:137223029 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.145_149del (p.Glu49fs) |
deletion |
Myofibrillar myopathy 3 [RCV004813369] |
Chr5:137870794..137870798 [GRCh38]
Chr5:137206483..137206487 [GRCh37]
Chr5:5q31.2 |
likely pathogenic |
| NM_006790.3(MYOT):c.182A>C (p.His61Pro) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000822941]|not provided [RCV002473155]|not specified [RCV003489917] |
Chr5:137870833 [GRCh38]
Chr5:137206522 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32 |
uncertain significance |
| NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002538180]|Myofibrillar myopathy 3 [RCV000813987]|not provided [RCV001572653] |
Chr5:137886182 [GRCh38]
Chr5:137221871 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1139T>C (p.Leu380Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004958115]|Myofibrillar myopathy 3 [RCV000805078] |
Chr5:137886162 [GRCh38]
Chr5:137221851 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.86C>T (p.Ser29Phe) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000814346] |
Chr5:137870737 [GRCh38]
Chr5:137206426 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.83C>T (p.Thr28Ile) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000814347] |
Chr5:137870734 [GRCh38]
Chr5:137206423 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.532-173G>A |
single nucleotide variant |
not provided [RCV000829613] |
Chr5:137877347 [GRCh38]
Chr5:137213036 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.784G>C (p.Asp262His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000794303] |
Chr5:137882073 [GRCh38]
Chr5:137217762 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.392C>A (p.Ala131Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002537365]|Myofibrillar myopathy 3 [RCV000812064] |
Chr5:137875864 [GRCh38]
Chr5:137211553 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.650A>G (p.His217Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000820634] |
Chr5:137880832 [GRCh38]
Chr5:137216521 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.357-250T>G |
single nucleotide variant |
not provided [RCV000826392] |
Chr5:137875579 [GRCh38]
Chr5:137211268 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.550A>C (p.Lys184Gln) |
single nucleotide variant |
not provided [RCV001092017] |
Chr5:137877538 [GRCh38]
Chr5:137213227 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.684-7C>T |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001444928] |
Chr5:137881966 [GRCh38]
Chr5:137217655 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.543T>C (p.Tyr181=) |
single nucleotide variant |
not provided [RCV000942552] |
Chr5:137877531 [GRCh38]
Chr5:137213220 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1195T>C (p.Tyr399His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000814437] |
Chr5:137886868 [GRCh38]
Chr5:137222557 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.810C>T (p.Asp270=) |
single nucleotide variant |
not provided [RCV000998439] |
Chr5:137882099 [GRCh38]
Chr5:137217788 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1046C>T (p.Pro349Leu) |
single nucleotide variant |
Muscle weakness [RCV000850321] |
Chr5:137886069 [GRCh38]
Chr5:137221758 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.490A>C (p.Lys164Gln) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001246223] |
Chr5:137875962 [GRCh38]
Chr5:137211651 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.232G>A (p.Gly78Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003163718]|Myofibrillar myopathy 3 [RCV001222286] |
Chr5:137870883 [GRCh38]
Chr5:137206572 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.859G>A (p.Gly287Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001315774]|not provided [RCV000998441] |
Chr5:137883426 [GRCh38]
Chr5:137219115 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.348G>A (p.Met116Ile) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001151521] |
Chr5:137870999 [GRCh38]
Chr5:137206688 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.*50T>G |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001155490] |
Chr5:137887435 [GRCh38]
Chr5:137223124 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1266T>A (p.Thr422=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001228359] |
Chr5:137886939 [GRCh38]
Chr5:137222628 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.-211-152AC[21] |
microsatellite |
not provided [RCV001613588] |
Chr5:137870288..137870289 [GRCh38]
Chr5:137205977..137205978 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.532-153C>A |
single nucleotide variant |
not provided [RCV001620694] |
Chr5:137877367 [GRCh38]
Chr5:137213056 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.356+228C>T |
single nucleotide variant |
not provided [RCV001667737] |
Chr5:137871235 [GRCh38]
Chr5:137206924 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.684-183G>A |
single nucleotide variant |
not provided [RCV001559612] |
Chr5:137881790 [GRCh38]
Chr5:137217479 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.634-150T>C |
single nucleotide variant |
not provided [RCV001574557] |
Chr5:137880666 [GRCh38]
Chr5:137216355 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1025-5T>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV000983412] |
Chr5:137886043 [GRCh38]
Chr5:137221732 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.924C>A (p.Leu308=) |
single nucleotide variant |
not provided [RCV000888985] |
Chr5:137883491 [GRCh38]
Chr5:137219180 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.381A>G (p.Gln127=) |
single nucleotide variant |
not provided [RCV000878074] |
Chr5:137875853 [GRCh38]
Chr5:137211542 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001225761] |
Chr5:137886107 [GRCh38]
Chr5:137221796 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001222456] |
Chr5:137887258 [GRCh38]
Chr5:137222947 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1458G>A (p.Leu486=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003313002] |
Chr5:137887346 [GRCh38]
Chr5:137223035 [GRCh37]
Chr5:5q31.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006790.3(MYOT):c.147G>C (p.Glu49Asp) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001057709] |
Chr5:137870798 [GRCh38]
Chr5:137206487 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.701G>A (p.Arg234Lys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001058463] |
Chr5:137881990 [GRCh38]
Chr5:137217679 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.843G>A (p.Val281=) |
single nucleotide variant |
not provided [RCV000998440] |
Chr5:137883410 [GRCh38]
Chr5:137219099 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1191-273_1191-272insG |
insertion |
not provided [RCV001553354] |
Chr5:137886591..137886592 [GRCh38]
Chr5:137222280..137222281 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.-211-297dup |
duplication |
not provided [RCV001560068] |
Chr5:137870126..137870127 [GRCh38]
Chr5:137205815..137205816 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.531+301G>T |
single nucleotide variant |
not provided [RCV001560775] |
Chr5:137876304 [GRCh38]
Chr5:137211993 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.-211-152AC[16] |
microsatellite |
not provided [RCV001722800] |
Chr5:137870289..137870294 [GRCh38]
Chr5:137205978..137205983 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.-211-297del |
deletion |
not provided [RCV001659334] |
Chr5:137870127 [GRCh38]
Chr5:137205816 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.357-283C>T |
single nucleotide variant |
not provided [RCV001594530] |
Chr5:137875546 [GRCh38]
Chr5:137211235 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.956G>A (p.Gly319Glu) |
single nucleotide variant |
not specified [RCV001192382] |
Chr5:137883523 [GRCh38]
Chr5:137219212 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.*372G>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001157168] |
Chr5:137887757 [GRCh38]
Chr5:137223446 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.-286C>G |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001151412] |
Chr5:137867879 [GRCh38]
Chr5:137203568 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.356+13T>G |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001151522] |
Chr5:137871020 [GRCh38]
Chr5:137206709 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.191T>A (p.Met64Lys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001155273] |
Chr5:137870842 [GRCh38]
Chr5:137206531 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.*188A>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001155491] |
Chr5:137887573 [GRCh38]
Chr5:137223262 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.143C>T (p.Thr48Ile) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003313001] |
Chr5:137870794 [GRCh38]
Chr5:137206483 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.634-89G>A |
single nucleotide variant |
not provided [RCV001590179] |
Chr5:137880727 [GRCh38]
Chr5:137216416 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.-211-152AC[23] |
microsatellite |
not provided [RCV001670479] |
Chr5:137870288..137870289 [GRCh38]
Chr5:137205977..137205978 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001063979] |
Chr5:137887359 [GRCh38]
Chr5:137223048 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.-211-152AC[22] |
microsatellite |
not provided [RCV001679996] |
Chr5:137870288..137870289 [GRCh38]
Chr5:137205977..137205978 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.*404G>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001157170] |
Chr5:137887789 [GRCh38]
Chr5:137223478 [GRCh37]
Chr5:5q31.2 |
benign|likely benign |
| NM_006790.3(MYOT):c.524G>A (p.Gly175Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004649527]|Myofibrillar myopathy 3 [RCV001233470] |
Chr5:137875996 [GRCh38]
Chr5:137211685 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.560G>A (p.Arg187His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001234974] |
Chr5:137877548 [GRCh38]
Chr5:137213237 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.680_683del (p.Val227fs) |
deletion |
MYOT-related disorder [RCV004754703]|Myofibrillar myopathy 3 [RCV001214063]|not specified [RCV005057106] |
Chr5:137880859..137880862 [GRCh38]
Chr5:137216548..137216551 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001045085] |
Chr5:137886207 [GRCh38]
Chr5:137221896 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.*311A>T |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001157166] |
Chr5:137887696 [GRCh38]
Chr5:137223385 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1025-3T>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001065260] |
Chr5:137886045 [GRCh38]
Chr5:137221734 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.951T>G (p.Asp317Glu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001302639] |
Chr5:137883518 [GRCh38]
Chr5:137219207 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1242C>T (p.Asn414=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003770467]|not provided [RCV001810665] |
Chr5:137886915 [GRCh38]
Chr5:137222604 [GRCh37]
Chr5:5q31.2 |
likely benign|uncertain significance |
| NM_006790.3(MYOT):c.642C>A (p.Asn214Lys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001320342] |
Chr5:137880824 [GRCh38]
Chr5:137216513 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.252G>C (p.Arg84Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001327186] |
Chr5:137870903 [GRCh38]
Chr5:137206592 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.751C>T (p.Arg251Cys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001340589] |
Chr5:137882040 [GRCh38]
Chr5:137217729 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001362246] |
Chr5:137883582 [GRCh38]
Chr5:137219271 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NC_000005.9:g.(?_136633338)_(140998481_?)dup |
duplication |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] |
Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3 |
uncertain significance |
| NM_006790.3(MYOT):c.67C>A (p.Pro23Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001326319] |
Chr5:137870718 [GRCh38]
Chr5:137206407 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.449T>C (p.Ile150Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003346520]|Myofibrillar myopathy 3 [RCV001364854]|not provided [RCV003227966] |
Chr5:137875921 [GRCh38]
Chr5:137211610 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.151A>G (p.Arg51Gly) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001365162] |
Chr5:137870802 [GRCh38]
Chr5:137206491 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.385A>G (p.Ile129Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001298216] |
Chr5:137875857 [GRCh38]
Chr5:137211546 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.609T>A (p.Asp203Glu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001323207] |
Chr5:137877597 [GRCh38]
Chr5:137213286 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1122del (p.Ile375fs) |
deletion |
Myofibrillar myopathy 3 [RCV001345288] |
Chr5:137886145 [GRCh38]
Chr5:137221834 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.436C>T (p.Pro146Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001350680] |
Chr5:137875908 [GRCh38]
Chr5:137211597 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1291G>A (p.Val431Met) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001321357] |
Chr5:137886964 [GRCh38]
Chr5:137222653 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1389T>C (p.Tyr463=) |
single nucleotide variant |
not provided [RCV001311680] |
Chr5:137887277 [GRCh38]
Chr5:137222966 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.655C>T (p.Arg219Ter) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001317557] |
Chr5:137880837 [GRCh38]
Chr5:137216526 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.752G>A (p.Arg251His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001341747] |
Chr5:137882041 [GRCh38]
Chr5:137217730 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.137A>T (p.Gln46Leu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001366199] |
Chr5:137870788 [GRCh38]
Chr5:137206477 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.511C>T (p.Leu171Phe) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001325402]|not provided [RCV001508172] |
Chr5:137875983 [GRCh38]
Chr5:137211672 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| GRCh37/hg19 5q31.2(chr5:136409875-137739167) |
copy number loss |
Microcephaly [RCV001352638] |
Chr5:136409875..137739167 [GRCh37]
Chr5:5q31.2 |
pathogenic |
| NM_006790.3(MYOT):c.1020C>T (p.Val340=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001395214] |
Chr5:137883587 [GRCh38]
Chr5:137219276 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1457T>C (p.Leu486Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001315405] |
Chr5:137887345 [GRCh38]
Chr5:137223034 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1128T>C (p.Pro376=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001499879] |
Chr5:137886151 [GRCh38]
Chr5:137221840 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1194A>G (p.Leu398=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001402521] |
Chr5:137886867 [GRCh38]
Chr5:137222556 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1236T>C (p.Asp412=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001393270] |
Chr5:137886909 [GRCh38]
Chr5:137222598 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.532-129del |
deletion |
not provided [RCV001655351] |
Chr5:137877368 [GRCh38]
Chr5:137213057 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.298A>G (p.Ile100Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001882553]|not provided [RCV001508171] |
Chr5:137870949 [GRCh38]
Chr5:137206638 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.532-129dup |
duplication |
not provided [RCV001725558] |
Chr5:137877367..137877368 [GRCh38]
Chr5:137213056..137213057 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.951T>C (p.Asp317=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001506671] |
Chr5:137883518 [GRCh38]
Chr5:137219207 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1191-183A>C |
single nucleotide variant |
not provided [RCV001611136] |
Chr5:137886681 [GRCh38]
Chr5:137222370 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.-211-300A>G |
single nucleotide variant |
not provided [RCV001654879] |
Chr5:137870141 [GRCh38]
Chr5:137205830 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.-211-152AC[20] |
microsatellite |
not provided [RCV001674137] |
Chr5:137870288..137870289 [GRCh38]
Chr5:137205977..137205978 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.660G>C (p.Leu220=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001399622] |
Chr5:137880842 [GRCh38]
Chr5:137216531 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.420G>A (p.Lys140=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001483410] |
Chr5:137875892 [GRCh38]
Chr5:137211581 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.532-5T>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001427869] |
Chr5:137877515 [GRCh38]
Chr5:137213204 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.943G>A (p.Ala315Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001394012] |
Chr5:137883510 [GRCh38]
Chr5:137219199 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1253C>T (p.Ala418Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001970583] |
Chr5:137886926 [GRCh38]
Chr5:137222615 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1478A>G (p.Tyr493Cys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001863805] |
Chr5:137887366 [GRCh38]
Chr5:137223055 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639) |
copy number loss |
not specified [RCV002053530] |
Chr5:132031902..137623639 [GRCh37]
Chr5:5q31.1-31.2 |
pathogenic |
| NM_006790.3(MYOT):c.134G>T (p.Arg45Leu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001911122] |
Chr5:137870785 [GRCh38]
Chr5:137206474 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.424A>G (p.Ile142Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001947268] |
Chr5:137875896 [GRCh38]
Chr5:137211585 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.683+1G>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002021636] |
Chr5:137880866 [GRCh38]
Chr5:137216555 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001911119] |
Chr5:137870701 [GRCh38]
Chr5:137206390 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.762A>C (p.Gln254His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001968472] |
Chr5:137882051 [GRCh38]
Chr5:137217740 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.552G>C (p.Lys184Asn) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001890651] |
Chr5:137877540 [GRCh38]
Chr5:137213229 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.529C>G (p.Gln177Glu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001912676]|not provided [RCV002473319] |
Chr5:137876001 [GRCh38]
Chr5:137211690 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) |
copy number gain |
not specified [RCV002053526] |
Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3 |
pathogenic |
| NM_006790.3(MYOT):c.1327C>T (p.Arg443Cys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001957583] |
Chr5:137887215 [GRCh38]
Chr5:137222904 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.956G>C (p.Gly319Ala) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001898059] |
Chr5:137883523 [GRCh38]
Chr5:137219212 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1391T>C (p.Leu464Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001899178] |
Chr5:137887279 [GRCh38]
Chr5:137222968 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1191C>T (p.Ser397=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002035520] |
Chr5:137886864 [GRCh38]
Chr5:137222553 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002036193] |
Chr5:137886874 [GRCh38]
Chr5:137222563 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001975465] |
Chr5:137886155 [GRCh38]
Chr5:137221844 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.593T>C (p.Val198Ala) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001883918] |
Chr5:137877581 [GRCh38]
Chr5:137213270 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1481A>C (p.Glu494Ala) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001996592] |
Chr5:137887369 [GRCh38]
Chr5:137223058 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.959C>T (p.Ala320Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002050034] |
Chr5:137883526 [GRCh38]
Chr5:137219215 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NC_000005.9:g.(?_137216485)_(137221922_?)del |
deletion |
Myofibrillar myopathy 3 [RCV001982223] |
Chr5:137216485..137221922 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.982A>G (p.Arg328Gly) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV001897013] |
Chr5:137883549 [GRCh38]
Chr5:137219238 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1409G>C (p.Gly470Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002553447]|Myofibrillar myopathy 3 [RCV001897610] |
Chr5:137887297 [GRCh38]
Chr5:137222986 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.459A>G (p.Ser153=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002074629] |
Chr5:137875931 [GRCh38]
Chr5:137211620 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1324+11C>G |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002072707] |
Chr5:137887008 [GRCh38]
Chr5:137222697 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1324+12T>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002086643] |
Chr5:137887009 [GRCh38]
Chr5:137222698 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.793A>C (p.Arg265=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002147699] |
Chr5:137882082 [GRCh38]
Chr5:137217771 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.816+17A>G |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002129331] |
Chr5:137882122 [GRCh38]
Chr5:137217811 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1089A>C (p.Gly363=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002110950] |
Chr5:137886112 [GRCh38]
Chr5:137221801 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.522T>C (p.Asn174=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002196173] |
Chr5:137875994 [GRCh38]
Chr5:137211683 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.744C>T (p.Tyr248=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002097326] |
Chr5:137882033 [GRCh38]
Chr5:137217722 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.903T>C (p.Ser301=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002080954] |
Chr5:137883470 [GRCh38]
Chr5:137219159 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1025-19T>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002089065] |
Chr5:137886029 [GRCh38]
Chr5:137221718 [GRCh37]
Chr5:5q31.2 |
benign |
| NM_006790.3(MYOT):c.618T>C (p.Gly206=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002206553] |
Chr5:137877606 [GRCh38]
Chr5:137213295 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.48A>C (p.Pro16=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002171725] |
Chr5:137870699 [GRCh38]
Chr5:137206388 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1324+18C>T |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002097392] |
Chr5:137887015 [GRCh38]
Chr5:137222704 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.519T>C (p.His173=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002128538] |
Chr5:137875991 [GRCh38]
Chr5:137211680 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.875C>G (p.Ser292Ter) |
single nucleotide variant |
not provided [RCV002214361] |
Chr5:137883442 [GRCh38]
Chr5:137219131 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.683+9T>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002170696] |
Chr5:137880874 [GRCh38]
Chr5:137216563 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.249A>G (p.Gln83=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002102528] |
Chr5:137870900 [GRCh38]
Chr5:137206589 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1191-7A>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002199058] |
Chr5:137886857 [GRCh38]
Chr5:137222546 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.532-12A>T |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002180289] |
Chr5:137877508 [GRCh38]
Chr5:137213197 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.684-16C>T |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002144589] |
Chr5:137881957 [GRCh38]
Chr5:137217646 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.651T>C (p.His217=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002082582] |
Chr5:137880833 [GRCh38]
Chr5:137216522 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.318T>C (p.Asp106=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002099340] |
Chr5:137870969 [GRCh38]
Chr5:137206658 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.357-15T>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002141849] |
Chr5:137875814 [GRCh38]
Chr5:137211503 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NC_000005.9:g.(?_136957787)_(140078137_?)dup |
duplication |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] |
Chr5:136957787..140078137 [GRCh37]
Chr5:5q31.2-31.3 |
uncertain significance |
| NM_006790.3(MYOT):c.1325-1G>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003112628] |
Chr5:137887212 [GRCh38]
Chr5:137222901 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NC_000005.9:g.(?_136957787)_(138861289_?)del |
deletion |
STING-associated vasculopathy with onset in infancy [RCV003113978] |
Chr5:136957787..138861289 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.721G>T (p.Asp241Tyr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005098468]|not provided [RCV002474338] |
Chr5:137882010 [GRCh38]
Chr5:137217699 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.725C>T (p.Ala242Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002303938] |
Chr5:137882014 [GRCh38]
Chr5:137217703 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.409G>A (p.Ala137Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003485846] |
Chr5:137875881 [GRCh38]
Chr5:137211570 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.162CTC[1] (p.Ser56del) |
microsatellite |
not provided [RCV002300970] |
Chr5:137870812..137870814 [GRCh38]
Chr5:137206501..137206503 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002301128] |
Chr5:137887342 [GRCh38]
Chr5:137223031 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.815A>C (p.Lys272Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002298119] |
Chr5:137882104 [GRCh38]
Chr5:137217793 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NC_000005.10:g.137881974_137881979del |
deletion |
Myofibrillar myopathy 3 [RCV002971438] |
Chr5:137881969..137881974 [GRCh38]
Chr5:137217658..137217663 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1113G>C (p.Gln371His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003073911] |
Chr5:137886136 [GRCh38]
Chr5:137221825 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.469T>C (p.Leu157=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003011620] |
Chr5:137875941 [GRCh38]
Chr5:137211630 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.972T>A (p.Val324=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003014268] |
Chr5:137883539 [GRCh38]
Chr5:137219228 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1006G>C (p.Val336Leu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003014269] |
Chr5:137883573 [GRCh38]
Chr5:137219262 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002883017]|Myofibrillar myopathy 3 [RCV003108189]|not provided [RCV003159242] |
Chr5:137887266 [GRCh38]
Chr5:137222955 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1190+18A>G |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003015919] |
Chr5:137886231 [GRCh38]
Chr5:137221920 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.614G>C (p.Ser205Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002843281] |
Chr5:137877602 [GRCh38]
Chr5:137213291 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1167A>G (p.Val389=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002996232] |
Chr5:137886190 [GRCh38]
Chr5:137221879 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.884T>G (p.Leu295Trp) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003032520] |
Chr5:137883451 [GRCh38]
Chr5:137219140 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.931G>C (p.Glu311Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002773520]|Myofibrillar myopathy 3 [RCV005099663] |
Chr5:137883498 [GRCh38]
Chr5:137219187 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1024+5G>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002730758] |
Chr5:137883596 [GRCh38]
Chr5:137219285 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.709G>A (p.Val237Met) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003055506] |
Chr5:137881998 [GRCh38]
Chr5:137217687 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.983G>A (p.Arg328Lys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002640466] |
Chr5:137883550 [GRCh38]
Chr5:137219239 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003079407]|not provided [RCV003134623]|not specified [RCV003317646] |
Chr5:137886967 [GRCh38]
Chr5:137222656 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.935T>C (p.Val312Ala) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002949010] |
Chr5:137883502 [GRCh38]
Chr5:137219191 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.16C>T (p.Arg6Cys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002952832] |
Chr5:137870667 [GRCh38]
Chr5:137206356 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.156T>C (p.Phe52=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003018469] |
Chr5:137870807 [GRCh38]
Chr5:137206496 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.318T>A (p.Asp106Glu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003019612] |
Chr5:137870969 [GRCh38]
Chr5:137206658 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.532C>T (p.Arg178Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002912522]|Myofibrillar myopathy 3 [RCV002912521]|not provided [RCV004571804]|not specified [RCV004526946] |
Chr5:137877520 [GRCh38]
Chr5:137213209 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.134G>A (p.Arg45His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002781568] |
Chr5:137870785 [GRCh38]
Chr5:137206474 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1417dup (p.Val473fs) |
duplication |
Myofibrillar myopathy 3 [RCV003035859] |
Chr5:137887304..137887305 [GRCh38]
Chr5:137222993..137222994 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.137A>G (p.Gln46Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002658666] |
Chr5:137870788 [GRCh38]
Chr5:137206477 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1175A>G (p.Asn392Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003038759] |
Chr5:137886198 [GRCh38]
Chr5:137221887 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.690A>G (p.Arg230=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002999314] |
Chr5:137881979 [GRCh38]
Chr5:137217668 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.53G>T (p.Gly18Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003019865] |
Chr5:137870704 [GRCh38]
Chr5:137206393 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.714T>C (p.Asn238=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002781194] |
Chr5:137882003 [GRCh38]
Chr5:137217692 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1327C>G (p.Arg443Gly) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002705571] |
Chr5:137887215 [GRCh38]
Chr5:137222904 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.49T>A (p.Cys17Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003021413] |
Chr5:137870700 [GRCh38]
Chr5:137206389 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.684-11T>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002918880] |
Chr5:137881962 [GRCh38]
Chr5:137217651 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.541T>C (p.Tyr181His) |
single nucleotide variant |
Inborn genetic diseases [RCV002955315] |
Chr5:137877529 [GRCh38]
Chr5:137213218 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.684-3T>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002801034] |
Chr5:137881970 [GRCh38]
Chr5:137217659 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1168C>T (p.Gln390Ter) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002574230] |
Chr5:137886191 [GRCh38]
Chr5:137221880 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.239A>G (p.Asn80Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002765870] |
Chr5:137870890 [GRCh38]
Chr5:137206579 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1323G>A (p.Thr441=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002891172] |
Chr5:137886996 [GRCh38]
Chr5:137222685 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.691T>C (p.Ser231Pro) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002700923] |
Chr5:137881980 [GRCh38]
Chr5:137217669 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1318G>A (p.Val440Ile) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002741693] |
Chr5:137886991 [GRCh38]
Chr5:137222680 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.484G>A (p.Glu162Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002743329] |
Chr5:137875956 [GRCh38]
Chr5:137211645 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.667C>T (p.Pro223Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003040167] |
Chr5:137880849 [GRCh38]
Chr5:137216538 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1454G>A (p.Arg485His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002629767] |
Chr5:137887342 [GRCh38]
Chr5:137223031 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1328G>A (p.Arg443His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002578842] |
Chr5:137887216 [GRCh38]
Chr5:137222905 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.816+16A>G |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002899980] |
Chr5:137882121 [GRCh38]
Chr5:137217810 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.357-19T>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002675521] |
Chr5:137875810 [GRCh38]
Chr5:137211499 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003086592] |
Chr5:137886141 [GRCh38]
Chr5:137221830 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1322C>T (p.Thr441Met) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002770371] |
Chr5:137886995 [GRCh38]
Chr5:137222684 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.524G>T (p.Gly175Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002895430] |
Chr5:137875996 [GRCh38]
Chr5:137211685 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.866C>G (p.Thr289Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003090894] |
Chr5:137883433 [GRCh38]
Chr5:137219122 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.533G>T (p.Arg178Leu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002577253] |
Chr5:137877521 [GRCh38]
Chr5:137213210 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.76C>T (p.Pro26Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002898508]|Myofibrillar myopathy 3 [RCV005099848] |
Chr5:137870727 [GRCh38]
Chr5:137206416 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1366G>A (p.Val456Ile) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002634043] |
Chr5:137887254 [GRCh38]
Chr5:137222943 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1439_1441del (p.Glu480del) |
deletion |
Myofibrillar myopathy 3 [RCV003051812] |
Chr5:137887325..137887327 [GRCh38]
Chr5:137223014..137223016 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.118A>G (p.Ile40Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003069008] |
Chr5:137870769 [GRCh38]
Chr5:137206458 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1231A>C (p.Lys411Gln) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002815130] |
Chr5:137886904 [GRCh38]
Chr5:137222593 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.683+8A>T |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003070825] |
Chr5:137880873 [GRCh38]
Chr5:137216562 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.364C>T (p.Gln122Ter) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003071890] |
Chr5:137875836 [GRCh38]
Chr5:137211525 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1041A>G (p.Arg347=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV002611825] |
Chr5:137886064 [GRCh38]
Chr5:137221753 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.225G>C (p.Gln75His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003485851] |
Chr5:137870876 [GRCh38]
Chr5:137206565 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003485847] |
Chr5:137886107 [GRCh38]
Chr5:137221796 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1336del (p.Gln446fs) |
deletion |
not specified [RCV003155857] |
Chr5:137887223 [GRCh38]
Chr5:137222912 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.775A>G (p.Met259Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003485850] |
Chr5:137882064 [GRCh38]
Chr5:137217753 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.280G>A (p.Ala94Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003485849] |
Chr5:137870931 [GRCh38]
Chr5:137206620 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.556G>T (p.Ala186Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003485845] |
Chr5:137877544 [GRCh38]
Chr5:137213233 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.392C>T (p.Ala131Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003485848] |
Chr5:137875864 [GRCh38]
Chr5:137211553 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.563G>A (p.Arg188Lys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003485852] |
Chr5:137877551 [GRCh38]
Chr5:137213240 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1372C>A (p.Pro458Thr) |
single nucleotide variant |
not provided [RCV003218910] |
Chr5:137887260 [GRCh38]
Chr5:137222949 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003615941]|not provided [RCV003219120] |
Chr5:137887251 [GRCh38]
Chr5:137222940 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.279A>G (p.Pro93=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003852728] |
Chr5:137870930 [GRCh38]
Chr5:137206619 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.419A>T (p.Lys140Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003212103]|Myofibrillar myopathy 3 [RCV005061093] |
Chr5:137875891 [GRCh38]
Chr5:137211580 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.508A>C (p.Thr170Pro) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003485842] |
Chr5:137875980 [GRCh38]
Chr5:137211669 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.170del (p.Thr57fs) |
deletion |
Myofibrillar myopathy 3 [RCV003485844] |
Chr5:137870821 [GRCh38]
Chr5:137206510 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1234G>C (p.Asp412His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003485843] |
Chr5:137886907 [GRCh38]
Chr5:137222596 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.404A>C (p.Gln135Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003373381] |
Chr5:137875876 [GRCh38]
Chr5:137211565 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.684-16C>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003505885] |
Chr5:137881957 [GRCh38]
Chr5:137217646 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1126C>A (p.Pro376Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003505026] |
Chr5:137886149 [GRCh38]
Chr5:137221838 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.817-14G>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003504690] |
Chr5:137883370 [GRCh38]
Chr5:137219059 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1191-19T>G |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003505639] |
Chr5:137886845 [GRCh38]
Chr5:137222534 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.562del (p.Arg188fs) |
deletion |
Myofibrillar myopathy 3 [RCV003504778] |
Chr5:137877550 [GRCh38]
Chr5:137213239 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.473T>C (p.Ile158Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003504691] |
Chr5:137875945 [GRCh38]
Chr5:137211634 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1119G>A (p.Ser373=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003504633] |
Chr5:137886142 [GRCh38]
Chr5:137221831 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1425A>G (p.Gln475=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003505364] |
Chr5:137887313 [GRCh38]
Chr5:137223002 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1129C>A (p.Pro377Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003505394] |
Chr5:137886152 [GRCh38]
Chr5:137221841 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.13G>A (p.Glu5Lys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003872907] |
Chr5:137870664 [GRCh38]
Chr5:137206353 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1307C>A (p.Thr436Lys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003505421]|not provided [RCV004775418] |
Chr5:137886980 [GRCh38]
Chr5:137222669 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.167C>T (p.Ser56Leu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003389383] |
Chr5:137870818 [GRCh38]
Chr5:137206507 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1406A>G (p.Lys469Arg) |
single nucleotide variant |
MYOT-related disorder [RCV003414366] |
Chr5:137887294 [GRCh38]
Chr5:137222983 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.500G>A (p.Cys167Tyr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003506377] |
Chr5:137875972 [GRCh38]
Chr5:137211661 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.855A>C (p.Leu285=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003506493] |
Chr5:137883422 [GRCh38]
Chr5:137219111 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1202A>G (p.Asp401Gly) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003825256] |
Chr5:137886875 [GRCh38]
Chr5:137222564 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.16C>G (p.Arg6Gly) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003506469] |
Chr5:137870667 [GRCh38]
Chr5:137206356 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.776T>G (p.Met259Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003506373] |
Chr5:137882065 [GRCh38]
Chr5:137217754 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1424A>C (p.Gln475Pro) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003830727] |
Chr5:137887312 [GRCh38]
Chr5:137223001 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.32T>C (p.Ile11Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003506553] |
Chr5:137870683 [GRCh38]
Chr5:137206372 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.495G>C (p.Leu165=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003615534] |
Chr5:137875967 [GRCh38]
Chr5:137211656 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.900G>A (p.Val300=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003616563] |
Chr5:137883467 [GRCh38]
Chr5:137219156 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.207C>T (p.Phe69=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003617274] |
Chr5:137870858 [GRCh38]
Chr5:137206547 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.653C>T (p.Ala218Val) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003616969] |
Chr5:137880835 [GRCh38]
Chr5:137216524 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.740T>G (p.Phe247Cys) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003617024] |
Chr5:137882029 [GRCh38]
Chr5:137217718 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.357-17_357-14del |
deletion |
Myofibrillar myopathy 3 [RCV003615757] |
Chr5:137875809..137875812 [GRCh38]
Chr5:137211498..137211501 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1479T>C (p.Tyr493=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003615688] |
Chr5:137887367 [GRCh38]
Chr5:137223056 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.684-7C>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003851888] |
Chr5:137881966 [GRCh38]
Chr5:137217655 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.685A>G (p.Ser229Gly) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003616166] |
Chr5:137881974 [GRCh38]
Chr5:137217663 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1369C>A (p.Arg457=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003616024] |
Chr5:137887257 [GRCh38]
Chr5:137222946 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.188C>T (p.Thr63Ile) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003616134] |
Chr5:137870839 [GRCh38]
Chr5:137206528 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1324+9T>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003616706] |
Chr5:137887006 [GRCh38]
Chr5:137222695 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.143C>G (p.Thr48Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003856010] |
Chr5:137870794 [GRCh38]
Chr5:137206483 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.61T>A (p.Leu21Met) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003615706] |
Chr5:137870712 [GRCh38]
Chr5:137206401 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.427C>T (p.Pro143Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003615715] |
Chr5:137875899 [GRCh38]
Chr5:137211588 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.693A>C (p.Ser231=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003615803] |
Chr5:137881982 [GRCh38]
Chr5:137217671 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.176G>A (p.Ser59Asn) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003617205] |
Chr5:137870827 [GRCh38]
Chr5:137206516 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.927C>A (p.Ile309=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003616232] |
Chr5:137883494 [GRCh38]
Chr5:137219183 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1396C>T (p.Leu466Phe) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003616493] |
Chr5:137887284 [GRCh38]
Chr5:137222973 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1391_1398del (p.Tyr463_Leu464insTer) |
deletion |
Myofibrillar myopathy 3 [RCV003616803] |
Chr5:137887277..137887284 [GRCh38]
Chr5:137222966..137222973 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.735G>A (p.Glu245=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003616688] |
Chr5:137882024 [GRCh38]
Chr5:137217713 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1086G>C (p.Glu362Asp) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003617163] |
Chr5:137886109 [GRCh38]
Chr5:137221798 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.189C>G (p.Thr63=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003616986] |
Chr5:137870840 [GRCh38]
Chr5:137206529 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1208C>T (p.Thr403Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004953384]|Myofibrillar myopathy 3 [RCV003616702] |
Chr5:137886881 [GRCh38]
Chr5:137222570 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.198C>A (p.Ser66=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003615570] |
Chr5:137870849 [GRCh38]
Chr5:137206538 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1126C>G (p.Pro376Ala) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003615670] |
Chr5:137886149 [GRCh38]
Chr5:137221838 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.516T>C (p.Leu172=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003850043] |
Chr5:137875988 [GRCh38]
Chr5:137211677 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1142T>C (p.Phe381Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004953502]|Myofibrillar myopathy 3 [RCV003615656] |
Chr5:137886165 [GRCh38]
Chr5:137221854 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.816+12G>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003617210] |
Chr5:137882117 [GRCh38]
Chr5:137217806 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1392A>T (p.Leu464Phe) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003832214] |
Chr5:137887280 [GRCh38]
Chr5:137222969 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.565T>C (p.Leu189=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003615986] |
Chr5:137877553 [GRCh38]
Chr5:137213242 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.12C>T (p.Tyr4=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003615794] |
Chr5:137870663 [GRCh38]
Chr5:137206352 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.677A>T (p.Gln226Leu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003616034] |
Chr5:137880859 [GRCh38]
Chr5:137216548 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.531+16A>G |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003818220] |
Chr5:137876019 [GRCh38]
Chr5:137211708 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1281T>C (p.Asn427=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003857131] |
Chr5:137886954 [GRCh38]
Chr5:137222643 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.634C>T (p.Gln212Ter) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV003990367] |
Chr5:137880816 [GRCh38]
Chr5:137216505 [GRCh37]
Chr5:5q31.2 |
likely pathogenic |
| NM_006790.3(MYOT):c.849G>A (p.Trp283Ter) |
single nucleotide variant |
MYOT-related disorder [RCV003932036] |
Chr5:137883416 [GRCh38]
Chr5:137219105 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.212C>G (p.Ala71Gly) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV004720706] |
Chr5:137870863 [GRCh38]
Chr5:137206552 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1474C>T (p.Leu492Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004465088]|Myofibrillar myopathy 3 [RCV005104719] |
Chr5:137887362 [GRCh38]
Chr5:137223051 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1442_1444del (p.Gly481del) |
deletion |
Myofibrillar myopathy 3 [RCV005040690]|not specified [RCV004526575] |
Chr5:137887328..137887330 [GRCh38]
Chr5:137223017..137223019 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.639C>A (p.His213Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004465120] |
Chr5:137880821 [GRCh38]
Chr5:137216510 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NC_000005.9:g.(?_137206341)_(137523102_?)dup |
duplication |
not provided [RCV004580616] |
Chr5:137206341..137523102 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NC_000005.9:g.(?_137221717)_(137223074_?)del |
deletion |
Myofibrillar myopathy 3 [RCV004578972] |
Chr5:137221717..137223074 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.254T>C (p.Val85Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004646026] |
Chr5:137870905 [GRCh38]
Chr5:137206594 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1335C>A (p.Asn445Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004646027] |
Chr5:137887223 [GRCh38]
Chr5:137222912 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.556G>A (p.Ala186Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004652105] |
Chr5:137877544 [GRCh38]
Chr5:137213233 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.12C>G (p.Tyr4Ter) |
single nucleotide variant |
not specified [RCV004799973] |
Chr5:137870663 [GRCh38]
Chr5:137206352 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1409G>A (p.Gly470Asp) |
single nucleotide variant |
not provided [RCV004811698] |
Chr5:137887297 [GRCh38]
Chr5:137222986 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.841G>A (p.Val281Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004959228] |
Chr5:137883408 [GRCh38]
Chr5:137219097 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1166T>C (p.Val389Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004959230] |
Chr5:137886189 [GRCh38]
Chr5:137221878 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1224A>T (p.Leu408Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004959231]|Myofibrillar myopathy 3 [RCV005107584] |
Chr5:137886897 [GRCh38]
Chr5:137222586 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.772A>G (p.Asn258Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004959227] |
Chr5:137882061 [GRCh38]
Chr5:137217750 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.257C>T (p.Thr86Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004959229] |
Chr5:137870908 [GRCh38]
Chr5:137206597 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.371C>T (p.Ser124Leu) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005043154] |
Chr5:137875843 [GRCh38]
Chr5:137211532 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.228T>C (p.His76=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005067582] |
Chr5:137870879 [GRCh38]
Chr5:137206568 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1434C>T (p.Asn478=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005174472] |
Chr5:137887322 [GRCh38]
Chr5:137223011 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.139T>C (p.Cys47Arg) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005146237] |
Chr5:137870790 [GRCh38]
Chr5:137206479 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.729C>T (p.Ile243=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005171959] |
Chr5:137882018 [GRCh38]
Chr5:137217707 [GRCh37]
Chr5:5q31.2 |
likely benign |
| Single allele |
duplication |
Myofibrillar myopathy 3 [RCV005229752] |
Chr5:137832296..137897203 [GRCh38]
Chr5:5q31.2 |
likely pathogenic |
| NM_006790.3(MYOT):c.113C>A (p.Ser38Tyr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005191219] |
Chr5:137870764 [GRCh38]
Chr5:137206453 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.702G>C (p.Arg234Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005121921] |
Chr5:137881991 [GRCh38]
Chr5:137217680 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1137G>A (p.Lys379=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005139401] |
Chr5:137886160 [GRCh38]
Chr5:137221849 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.846A>G (p.Ser282=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005120870] |
Chr5:137883413 [GRCh38]
Chr5:137219102 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.407C>G (p.Thr136Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005132415] |
Chr5:137875879 [GRCh38]
Chr5:137211568 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1325-9C>G |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005157604] |
Chr5:137887204 [GRCh38]
Chr5:137222893 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1299A>G (p.Thr433=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005207295] |
Chr5:137886972 [GRCh38]
Chr5:137222661 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1425A>T (p.Gln475His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005182555] |
Chr5:137887313 [GRCh38]
Chr5:137223002 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.411A>C (p.Ala137=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005132453] |
Chr5:137875883 [GRCh38]
Chr5:137211572 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.367T>A (p.Ser123Thr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005136696] |
Chr5:137875839 [GRCh38]
Chr5:137211528 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.634-7T>C |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005160125] |
Chr5:137880809 [GRCh38]
Chr5:137216498 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.356+20C>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005177331] |
Chr5:137871027 [GRCh38]
Chr5:137206716 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.532-8C>A |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005084337] |
Chr5:137877512 [GRCh38]
Chr5:137213201 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1483A>G (p.Ser495Gly) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005167122] |
Chr5:137887371 [GRCh38]
Chr5:137223060 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.128A>C (p.Gln43Pro) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005133386] |
Chr5:137870779 [GRCh38]
Chr5:137206468 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.856A>C (p.Asn286His) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005138306] |
Chr5:137883423 [GRCh38]
Chr5:137219112 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1453C>A (p.Arg485Ser) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005180608] |
Chr5:137887341 [GRCh38]
Chr5:137223030 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.633+16C>T |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005193615] |
Chr5:137877637 [GRCh38]
Chr5:137213326 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.1413G>C (p.Leu471Phe) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005148417] |
Chr5:137887301 [GRCh38]
Chr5:137222990 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1098G>T (p.Val366=) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005205361] |
Chr5:137886121 [GRCh38]
Chr5:137221810 [GRCh37]
Chr5:5q31.2 |
likely benign |
| NM_006790.3(MYOT):c.350A>G (p.Asp117Gly) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005155232] |
Chr5:137871001 [GRCh38]
Chr5:137206690 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1325-2A>G |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005111378] |
Chr5:137887211 [GRCh38]
Chr5:137222900 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.610G>T (p.Asp204Tyr) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005108073] |
Chr5:137877598 [GRCh38]
Chr5:137213287 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
| NM_006790.3(MYOT):c.1484G>A (p.Ser495Asn) |
single nucleotide variant |
Myofibrillar myopathy 3 [RCV005068613] |
Chr5:137887372 [GRCh38]
Chr5:137223061 [GRCh37]
Chr5:5q31.2 |
uncertain significance |
