| 11593580 | CV284353 | single nucleotide variant | NM_005259.3(MSTN):c.-17A>C | Myostatin-related muscle hypertrophy [RCV000350365] | benign|uncertain significance | 2 | 190062613 | 190062613 | Human | 1 | name |
| 11584824 | CV286678 | single nucleotide variant | NM_005259.3(MSTN):c.*41G>T | Myostatin-related muscle hypertrophy [RCV000276588] | likely benign|uncertain significance | 2 | 190057217 | 190057217 | Human | 1 | name |
| 28894423 | CV883080 | single nucleotide variant | NM_005259.3(MSTN):c.*40G>T | Myostatin-related muscle hypertrophy [RCV001140502] | benign | 2 | 190057218 | 190057218 | Human | 1 | name |
| 28892603 | CV883089 | single nucleotide variant | NM_005259.3(MSTN):c.-99G>A | Myostatin-related muscle hypertrophy [RCV001139829] | uncertain significance | 2 | 190062695 | 190062695 | Human | 1 | name |
| 11648853 | CV284318 | single nucleotide variant | NM_005259.3(MSTN):c.*923T>C | Myostatin-related muscle hypertrophy [RCV000284237] | uncertain significance | 2 | 190056335 | 190056335 | Human | 1 | name |
| 11588629 | CV284320 | single nucleotide variant | NM_005259.3(MSTN):c.*574G>A | Myostatin-related muscle hypertrophy [RCV000304618] | likely benign | 2 | 190056684 | 190056684 | Human | 1 | name |
| 11597782 | CV284322 | single nucleotide variant | NM_005259.3(MSTN):c.*395A>C | Myostatin-related muscle hypertrophy [RCV000398216] | benign | 2 | 190056863 | 190056863 | Human | 1 | name |
| 11584603 | CV284341 | single nucleotide variant | NM_005259.3(MSTN):c.*259A>G | Myostatin-related muscle hypertrophy [RCV000275243] | likely benign|uncertain significance | 2 | 190056999 | 190056999 | Human | 1 | name |
| 11597783 | CV286328 | single nucleotide variant | NM_005259.3(MSTN):c.*697T>C | Myostatin-related muscle hypertrophy [RCV000398220] | likely benign|uncertain significance | 2 | 190056561 | 190056561 | Human | 1 | name |
| 11594844 | CV286329 | single nucleotide variant | NM_005259.3(MSTN):c.*493G>A | Myostatin-related muscle hypertrophy [RCV000363928] | benign | 2 | 190056765 | 190056765 | Human | 1 | name |
| 11589370 | CV286330 | single nucleotide variant | NM_005259.3(MSTN):c.*290C>T | Myostatin-related muscle hypertrophy [RCV000310379]|not provided [RCV004708448] | benign|likely benign | 2 | 190056968 | 190056968 | Human | 1 | name |
| 11591571 | CV286336 | single nucleotide variant | NM_005259.3(MSTN):c.*135G>A | Myostatin-related muscle hypertrophy [RCV000330435]|not provided [RCV004708450] | benign | 2 | 190057123 | 190057123 | Human | 1 | name |
| 11660852 | CV286345 | single nucleotide variant | NM_005259.3(MSTN):c.*121A>G | Myostatin-related muscle hypertrophy [RCV000371068] | uncertain significance | 2 | 190057137 | 190057137 | Human | 1 | name |
| 11592497 | CV286659 | single nucleotide variant | NM_005259.3(MSTN):c.*742C>T | Myostatin-related muscle hypertrophy [RCV000339305]|not provided [RCV004708447] | benign | 2 | 190056516 | 190056516 | Human | 2 | name |
| 11592497 | CV286659 | single nucleotide variant | NM_005259.3(MSTN):c.*742C>T | Myostatin-related muscle hypertrophy [RCV000339305]|not provided [RCV004708447] | benign | 2 | 190056516 | 190056517 | Human | 2 | name |
| 11594961 | CV286674 | single nucleotide variant | NM_005259.3(MSTN):c.*273C>G | Myostatin-related muscle hypertrophy [RCV000365232]|not provided [RCV004708449] | benign|likely benign | 2 | 190056985 | 190056985 | Human | 1 | name |
| 28885439 | CV883076 | single nucleotide variant | NM_005259.3(MSTN):c.*784G>A | Myostatin-related muscle hypertrophy [RCV001137515] | uncertain significance | 2 | 190056474 | 190056474 | Human | 1 | name |
| 28885443 | CV883077 | single nucleotide variant | NM_005259.3(MSTN):c.*695A>C | Myostatin-related muscle hypertrophy [RCV001137516]|not provided [RCV004694848] | uncertain significance | 2 | 190056563 | 190056563 | Human | 1 | name |
| 28892314 | CV883078 | single nucleotide variant | NM_005259.3(MSTN):c.*336C>A | Myostatin-related muscle hypertrophy [RCV001139724] | uncertain significance | 2 | 190056922 | 190056922 | Human | 1 | name |
| 28892316 | CV883079 | single nucleotide variant | NM_005259.3(MSTN):c.*127T>C | Myostatin-related muscle hypertrophy [RCV001139725] | uncertain significance | 2 | 190057131 | 190057131 | Human | 1 | name |
| 8560066 | CV22744 | single nucleotide variant | NM_005259.3(MSTN):c.373+5G>A | Myostatin-related muscle hypertrophy [RCV000008144] | pathogenic | 2 | 190062219 | 190062219 | Human | 1 | name |
| 11595655 | CV283668 | single nucleotide variant | NM_005259.3(MSTN):c.*1332A>G | Myostatin-related muscle hypertrophy [RCV000373119] | benign | 2 | 190055926 | 190055926 | Human | 1 | name |
| 11587531 | CV284309 | single nucleotide variant | NM_005259.3(MSTN):c.*1450T>C | Myostatin-related muscle hypertrophy [RCV000295685] | benign|likely benign | 2 | 190055808 | 190055808 | Human | 1 | name |
| 11664406 | CV284310 | single nucleotide variant | NM_005259.3(MSTN):c.*1073G>T | Myostatin-related muscle hypertrophy [RCV000405515] | uncertain significance | 2 | 190056185 | 190056185 | Human | 1 | name |
| 11581496 | CV284343 | single nucleotide variant | NM_005259.3(MSTN):c.748-3C>T | Myostatin-related muscle hypertrophy [RCV000372367] | likely benign|uncertain significance | 2 | 190057641 | 190057641 | Human | 1 | name |
| 11591773 | CV286303 | single nucleotide variant | NM_005259.3(MSTN):c.*1362A>G | Myostatin-related muscle hypertrophy [RCV000332447] | benign|likely benign | 2 | 190055896 | 190055896 | Human | 1 | name |
| 11596670 | CV286619 | single nucleotide variant | NM_005259.3(MSTN):c.*1514C>G | Myostatin-related muscle hypertrophy [RCV000385328] | benign | 2 | 190055744 | 190055744 | Human | 1 | name |
| 11585076 | CV286650 | single nucleotide variant | NM_005259.3(MSTN):c.*1203G>C | Myostatin-related muscle hypertrophy [RCV000278586] | benign | 2 | 190056055 | 190056055 | Human | 1 | name |
| 11592391 | CV286651 | deletion | NM_005259.3(MSTN):c.*1145del | Myostatin-related muscle hypertrophy [RCV000338280] | likely benign | 2 | 190056113 | 190056113 | Human | 1 | name |
| 28899167 | CV883073 | single nucleotide variant | NM_005259.3(MSTN):c.*1316C>G | Myostatin-related muscle hypertrophy [RCV001142256] | uncertain significance | 2 | 190055942 | 190055942 | Human | 1 | name |
| 28899173 | CV883074 | single nucleotide variant | NM_005259.3(MSTN):c.*1273C>T | Myostatin-related muscle hypertrophy [RCV001142257] | uncertain significance | 2 | 190055985 | 190055985 | Human | 1 | name |
| 28885434 | CV883075 | single nucleotide variant | NM_005259.3(MSTN):c.*1063A>G | Myostatin-related muscle hypertrophy [RCV001137514] | uncertain significance | 2 | 190056195 | 190056195 | Human | 1 | name |
| 28899419 | CV887225 | single nucleotide variant | NM_005259.3(MSTN):c.747+8A>G | MSTN-related disorder [RCV003928739]|Myostatin-related muscle hypertrophy [RCV001142348] | benign|likely benign | 2 | 190060054 | 190060054 | Human | 1 | name , trait , alternate_id |
| 150334189 | CV1170864 | deletion | NM_005259.3(MSTN):c.373+90del | not provided [RCV001539856] | benign | 2 | 190062134 | 190062134 | Human | | name |
| 150458538 | CV1248950 | single nucleotide variant | NM_005259.3(MSTN):c.374-84A>T | not provided [RCV001669126] | benign | 2 | 190060519 | 190060519 | Human | | name |
| 11597722 | CV283678 | microsatellite | NM_005259.3(MSTN):c.-44GAA[1] | Myostatin-related muscle hypertrophy [RCV000397391] | likely benign | 2 | 190062635 | 190062637 | Human | | name |
| 150332984 | CV1170863 | single nucleotide variant | NM_005259.3(MSTN):c.374-130G>A | not provided [RCV001539260] | benign | 2 | 190060565 | 190060565 | Human | | name |
| 150448070 | CV1275487 | single nucleotide variant | NM_005259.3(MSTN):c.748-128C>T | not provided [RCV001707942] | benign | 2 | 190057766 | 190057766 | Human | | name |
| 408367669 | CV3512100 | single nucleotide variant | NM_005259.3(MSTN):c.45G>A (p.Leu15=) | MSTN-related disorder [RCV004759121] | likely benign | 2 | 190062552 | 190062552 | Human | | name , trait , alternate_id |
| 401929987 | CV2819439 | single nucleotide variant | NM_005259.3(MSTN):c.150T>C (p.Ser50=) | not provided [RCV003440109] | likely benign | 2 | 190062447 | 190062447 | Human | | name |
| 11598339 | CV286701 | single nucleotide variant | NM_005259.3(MSTN):c.180C>T (p.Ile60=) | Myostatin-related muscle hypertrophy [RCV000404459]|not provided [RCV000885041] | benign|likely benign | 2 | 190062417 | 190062417 | Human | 1 | name |
| 13515583 | CV492916 | single nucleotide variant | NM_005259.3(MSTN):c.234A>G (p.Arg78=) | not provided [RCV000594454] | uncertain significance | 2 | 190062363 | 190062363 | Human | | name |
| 156246589 | CV2396812 | single nucleotide variant | NM_005259.3(MSTN):c.89A>C (p.Lys30Thr) | not specified [RCV004233950] | uncertain significance | 2 | 190062508 | 190062508 | Human | | name |
| 11578818 | CV283671 | single nucleotide variant | NM_005259.3(MSTN):c.306C>T (p.Ser102=) | Myostatin-related muscle hypertrophy [RCV000289636]|not provided [RCV000884311] | benign|likely benign | 2 | 190062291 | 190062291 | Human | 1 | name |
| 15176960 | CV707907 | single nucleotide variant | NM_005259.3(MSTN):c.798G>A (p.Arg266=) | not provided [RCV000973312] | benign | 2 | 190057588 | 190057588 | Human | | name |
| 28894426 | CV883082 | single nucleotide variant | NM_005259.3(MSTN):c.897C>T (p.Ile299=) | Myostatin-related muscle hypertrophy [RCV001140504] | uncertain significance | 2 | 190057489 | 190057489 | Human | 1 | name |
| 28894429 | CV883083 | single nucleotide variant | NM_005259.3(MSTN):c.796A>C (p.Arg266=) | Myostatin-related muscle hypertrophy [RCV001140505] | uncertain significance | 2 | 190057590 | 190057590 | Human | 1 | name |
| 28899429 | CV883086 | single nucleotide variant | NM_005259.3(MSTN):c.513G>A (p.Val171=) | Myostatin-related muscle hypertrophy [RCV001142351] | uncertain significance | 2 | 190060296 | 190060296 | Human | 1 | name |
| 28885759 | CV883087 | single nucleotide variant | NM_005259.3(MSTN):c.453A>G (p.Val151=) | Myostatin-related muscle hypertrophy [RCV001137604] | uncertain significance | 2 | 190060356 | 190060356 | Human | 1 | name |
| 28885761 | CV883088 | single nucleotide variant | NM_005259.3(MSTN):c.98T>C (p.Val33Ala) | Myostatin-related muscle hypertrophy [RCV001137605] | uncertain significance | 2 | 190062499 | 190062499 | Human | 1 | name |
| 11579950 | CV283669 | single nucleotide variant | NM_005259.3(MSTN):c.1062T>C (p.Asn354=) | Myostatin-related muscle hypertrophy [RCV000317681] | likely benign|uncertain significance | 2 | 190057324 | 190057324 | Human | 1 | name |
| 11580867 | CV283677 | single nucleotide variant | NM_005259.3(MSTN):c.263G>A (p.Arg88Gln) | MSTN-related disorder [RCV003940339]|Myostatin-related muscle hypertrophy [RCV000347027]|not provided [RCV000762305] | benign|likely benign|uncertain significance | 2 | 190062334 | 190062334 | Human | 1 | name , trait , alternate_id |
| 405292668 | CV3192939 | single nucleotide variant | NM_005259.3(MSTN):c.194G>A (p.Arg65His) | MSTN-related disorder [RCV003964644] | likely benign | 2 | 190062403 | 190062403 | Human | | name , trait , alternate_id |
| 405779520 | CV3372430 | single nucleotide variant | NM_005259.3(MSTN):c.164C>T (p.Ala55Val) | not specified [RCV004503699] | uncertain significance | 2 | 190062433 | 190062433 | Human | | name |
| 8573329 | CV76595 | single nucleotide variant | NM_005259.3(MSTN):c.163G>A (p.Ala55Thr) | MSTN-related disorder [RCV003974941]|Myostatin-related muscle hypertrophy [RCV000055913]|not provided [RCV004707901] | benign | 2 | 190062434 | 190062434 | Human | 1 | name , trait , alternate_id |
| 156242249 | CV2283174 | single nucleotide variant | NM_005259.3(MSTN):c.639A>C (p.Gln213His) | not specified [RCV004145856] | uncertain significance | 2 | 190060170 | 190060170 | Human | | name |
| 156047248 | CV2319151 | single nucleotide variant | NM_005259.3(MSTN):c.701G>A (p.Gly234Asp) | not specified [RCV004178217] | uncertain significance | 2 | 190060108 | 190060108 | Human | | name |
| 156353073 | CV2324097 | single nucleotide variant | NM_005259.3(MSTN):c.881G>C (p.Gly294Ala) | not specified [RCV004178386] | uncertain significance | 2 | 190057505 | 190057505 | Human | | name |
| 156016950 | CV2370020 | single nucleotide variant | NM_005259.3(MSTN):c.529A>C (p.Ile177Leu) | not specified [RCV004210918] | uncertain significance | 2 | 190060280 | 190060280 | Human | | name |
| 156180744 | CV2374783 | single nucleotide variant | NM_005259.3(MSTN):c.496C>T (p.Pro166Ser) | not specified [RCV004225387] | uncertain significance | 2 | 190060313 | 190060313 | Human | | name |
| 156059882 | CV2383584 | single nucleotide variant | NM_005259.3(MSTN):c.739G>A (p.Asp247Asn) | not specified [RCV004224452] | uncertain significance | 2 | 190060070 | 190060070 | Human | | name |
| 329390666 | CV2455347 | single nucleotide variant | NM_005259.3(MSTN):c.916G>A (p.Ala306Thr) | not specified [RCV004274849] | uncertain significance | 2 | 190057470 | 190057470 | Human | | name |
| 401781991 | CV2690042 | single nucleotide variant | NM_005259.3(MSTN):c.730C>G (p.Pro244Ala) | not specified [RCV004299914] | uncertain significance | 2 | 190060079 | 190060079 | Human | | name |
| 11582247 | CV283670 | single nucleotide variant | NM_005259.3(MSTN):c.386T>G (p.Met129Arg) | Myostatin-related muscle hypertrophy [RCV000403660]|not provided [RCV000879806] | benign|likely benign | 2 | 190060423 | 190060423 | Human | 1 | name |
| 11579991 | CV284350 | single nucleotide variant | NM_005259.3(MSTN):c.551C>T (p.Thr184Ile) | Myostatin-related muscle hypertrophy [RCV000319193] | benign|uncertain significance | 2 | 190060258 | 190060258 | Human | 1 | name |
| 11578552 | CV284351 | single nucleotide variant | NM_005259.3(MSTN):c.466C>A (p.Leu156Ile) | Myostatin-related muscle hypertrophy [RCV000283902] | likely benign | 2 | 190060343 | 190060343 | Human | 1 | name |
| 11585391 | CV286347 | single nucleotide variant | NM_005259.3(MSTN):c.674T>C (p.Ile225Thr) | Myostatin-related muscle hypertrophy [RCV000280530]|not provided [RCV000891357] | benign|likely benign | 2 | 190060135 | 190060135 | Human | 1 | name |
| 11595895 | CV286683 | single nucleotide variant | NM_005259.3(MSTN):c.490G>A (p.Glu164Lys) | Myostatin-related muscle hypertrophy [RCV000376122]|not provided [RCV000960832] | benign|likely benign | 2 | 190060319 | 190060319 | Human | 1 | name |
| 405779539 | CV3372433 | single nucleotide variant | NM_005259.3(MSTN):c.406A>C (p.Lys136Gln) | not specified [RCV004503702] | uncertain significance | 2 | 190060403 | 190060403 | Human | | name |
| 405779576 | CV3372439 | single nucleotide variant | NM_005259.3(MSTN):c.538A>G (p.Met180Val) | not specified [RCV004503708] | uncertain significance | 2 | 190060271 | 190060271 | Human | | name |
| 405779587 | CV3372441 | single nucleotide variant | NM_005259.3(MSTN):c.634T>G (p.Leu212Val) | not specified [RCV004503710] | uncertain significance | 2 | 190060175 | 190060175 | Human | | name |
| 405779617 | CV3372446 | single nucleotide variant | NM_005259.3(MSTN):c.721T>C (p.Phe241Leu) | not specified [RCV004503715] | uncertain significance | 2 | 190060088 | 190060088 | Human | | name |
| 405779666 | CV3372454 | single nucleotide variant | NM_005259.3(MSTN):c.995C>G (p.Pro332Arg) | not specified [RCV004503723] | uncertain significance | 2 | 190057391 | 190057391 | Human | | name |
| 597648274 | CV3564227 | single nucleotide variant | NM_005259.3(MSTN):c.407A>G (p.Lys136Arg) | not specified [RCV004833304] | uncertain significance | 2 | 190060402 | 190060402 | Human | | name |
| 597648269 | CV3564228 | single nucleotide variant | NM_005259.3(MSTN):c.982C>T (p.His328Tyr) | not specified [RCV004833305] | uncertain significance | 2 | 190057404 | 190057404 | Human | | name |
| 597648263 | CV3564229 | single nucleotide variant | NM_005259.3(MSTN):c.598A>T (p.Thr200Ser) | not specified [RCV004833306] | uncertain significance | 2 | 190060211 | 190060211 | Human | | name |
| 597638770 | CV3564230 | single nucleotide variant | NM_005259.3(MSTN):c.853C>T (p.Pro285Ser) | not specified [RCV004824991] | uncertain significance | 2 | 190057533 | 190057533 | Human | | name |
| 597648255 | CV3564231 | single nucleotide variant | NM_005259.3(MSTN):c.899C>T (p.Ala300Val) | not specified [RCV004833307] | uncertain significance | 2 | 190057487 | 190057487 | Human | | name |
| 598214526 | CV3989796 | single nucleotide variant | NM_005259.3(MSTN):c.781C>G (p.Pro261Ala) | not specified [RCV005378588] | uncertain significance | 2 | 190057605 | 190057605 | Human | | name |
| 8573330 | CV76596 | single nucleotide variant | NM_005259.3(MSTN):c.458A>G (p.Lys153Arg) | Myostatin-related muscle hypertrophy [RCV000055914]|not provided [RCV001610341] | pathogenic|benign | 2 | 190060351 | 190060351 | Human | 1 | name |
| 28899422 | CV883084 | single nucleotide variant | NM_005259.3(MSTN):c.547G>C (p.Gly183Arg) | Myostatin-related muscle hypertrophy [RCV001142349] | uncertain significance | 2 | 190060262 | 190060262 | Human | 1 | name |
| 28899425 | CV883085 | single nucleotide variant | NM_005259.3(MSTN):c.516A>C (p.Gln172His) | Myostatin-related muscle hypertrophy [RCV001142350] | likely benign | 2 | 190060293 | 190060293 | Human | 1 | name |
| 156384050 | CV2361789 | single nucleotide variant | NM_005259.3(MSTN):c.1112G>A (p.Arg371His) | not specified [RCV004223262] | uncertain significance | 2 | 190057274 | 190057274 | Human | | name |
| 405779498 | CV3372426 | single nucleotide variant | NM_005259.3(MSTN):c.1101G>A (p.Met367Ile) | not specified [RCV004503695] | uncertain significance | 2 | 190057285 | 190057285 | Human | | name |
| 405779504 | CV3372427 | single nucleotide variant | NM_005259.3(MSTN):c.1111C>T (p.Arg371Cys) | not specified [RCV004503696] | uncertain significance | 2 | 190057275 | 190057275 | Human | | name |
| 598214531 | CV3989797 | single nucleotide variant | NM_005259.3(MSTN):c.1108G>C (p.Asp370His) | not specified [RCV005378589] | uncertain significance | 2 | 190057278 | 190057278 | Human | | name |
| 28894424 | CV883081 | single nucleotide variant | NM_005259.3(MSTN):c.1085G>A (p.Gly362Glu) | Myostatin-related muscle hypertrophy [RCV001140503] | uncertain significance | 2 | 190057301 | 190057301 | Human | 1 | name |