| 151876448 | CV1466997 | deletion | NM_001077525.3(MTMR14):c.417+1del | not provided [RCV001885917] | uncertain significance | 3 | 9662375 | 9662375 | Human | | name |
| 152152826 | CV1529746 | single nucleotide variant | NM_001077525.3(MTMR14):c.678-4G>A | not provided [RCV002202242] | likely benign | 3 | 9672681 | 9672681 | Human | | name |
| 152037826 | CV1572282 | single nucleotide variant | NM_001077525.3(MTMR14):c.554+8C>T | not provided [RCV002205880] | likely benign | 3 | 9669500 | 9669500 | Human | | name |
| 155947345 | CV2036016 | single nucleotide variant | NM_001077525.3(MTMR14):c.418-5C>T | not provided [RCV002775566] | likely benign | 3 | 9668714 | 9668714 | Human | | name |
| 156246263 | CV2086223 | single nucleotide variant | NM_001077525.3(MTMR14):c.309-9G>A | not provided [RCV002876782] | likely benign | 3 | 9662258 | 9662258 | Human | | name |
| 156230195 | CV2122007 | single nucleotide variant | NM_001077525.3(MTMR14):c.418-3C>A | not provided [RCV002958479] | uncertain significance | 3 | 9668716 | 9668716 | Human | | name |
| 156098159 | CV2163528 | single nucleotide variant | NM_001077525.3(MTMR14):c.898-3C>T | not provided [RCV003038474] | uncertain significance | 3 | 9683175 | 9683175 | Human | | name |
| 404980391 | CV2850492 | single nucleotide variant | NM_001077525.3(MTMR14):c.308+1G>A | not provided [RCV003488051] | uncertain significance | 3 | 9653770 | 9653770 | Human | | name |
| 597870545 | CV3749929 | single nucleotide variant | NM_001077525.3(MTMR14):c.752-9C>G | not provided [RCV005068610] | likely benign | 3 | 9677308 | 9677308 | Human | | name |
| 597951328 | CV3815340 | single nucleotide variant | NM_001077525.3(MTMR14):c.494-1G>A | not provided [RCV005161290] | uncertain significance | 3 | 9669431 | 9669431 | Human | | name |
| 597853508 | CV3825187 | single nucleotide variant | NM_001077525.3(MTMR14):c.964+5G>A | not provided [RCV005174035] | uncertain significance | 3 | 9683249 | 9683249 | Human | | name |
| 151878192 | CV1369010 | single nucleotide variant | NM_001077525.3(MTMR14):c.1164+6T>C | not provided [RCV001999196] | uncertain significance | 3 | 9685253 | 9685253 | Human | | name |
| 151881891 | CV1371062 | single nucleotide variant | NM_001077525.3(MTMR14):c.1127+6C>T | not provided [RCV001886620] | uncertain significance | 3 | 9684970 | 9684970 | Human | | name |
| 151862653 | CV1474308 | single nucleotide variant | NM_001077525.3(MTMR14):c.308+17C>T | not provided [RCV001884128] | likely benign | 3 | 9653786 | 9653786 | Human | | name |
| 152128811 | CV1549113 | single nucleotide variant | NM_001077525.3(MTMR14):c.418-15A>G | not provided [RCV002099200] | likely benign | 3 | 9668704 | 9668704 | Human | | name |
| 152126233 | CV1565787 | single nucleotide variant | NM_001077525.3(MTMR14):c.751+20T>C | not provided [RCV002136353] | likely benign | 3 | 9672778 | 9672778 | Human | | name |
| 152091916 | CV1567690 | single nucleotide variant | NM_001077525.3(MTMR14):c.493+13C>T | not provided [RCV002212843] | likely benign | 3 | 9668807 | 9668807 | Human | | name |
| 152134492 | CV1571541 | single nucleotide variant | NM_001077525.3(MTMR14):c.554+13T>G | not provided [RCV002177242] | likely benign | 3 | 9669505 | 9669505 | Human | | name |
| 152087671 | CV1574112 | single nucleotide variant | NM_001077525.3(MTMR14):c.751+11C>G | not provided [RCV002150159] | likely benign | 3 | 9672769 | 9672769 | Human | | name |
| 152067089 | CV1579104 | single nucleotide variant | NM_001077525.3(MTMR14):c.160-14C>T | not provided [RCV002074597] | likely benign | 3 | 9653607 | 9653607 | Human | | name |
| 152086542 | CV1599522 | single nucleotide variant | NM_001077525.3(MTMR14):c.751+11C>T | not provided [RCV002093563] | likely benign | 3 | 9672769 | 9672769 | Human | | name |
| 152105329 | CV1609473 | single nucleotide variant | NM_001077525.3(MTMR14):c.965-14C>T | not provided [RCV002115864] | benign | 3 | 9684571 | 9684571 | Human | | name |
| 152062175 | CV1611435 | single nucleotide variant | NM_001077525.3(MTMR14):c.897+10C>T | not provided [RCV002146904] | likely benign | 3 | 9678068 | 9678068 | Human | | name |
| 152053309 | CV1651505 | single nucleotide variant | NM_001077525.3(MTMR14):c.898-15A>G | not provided [RCV002145948] | likely benign | 3 | 9683163 | 9683163 | Human | | name |
| 152053289 | CV1658362 | single nucleotide variant | NM_001077525.3(MTMR14):c.823-14C>G | not provided [RCV002207785] | likely benign | 3 | 9677970 | 9677970 | Human | | name |
| 152132833 | CV1665976 | single nucleotide variant | NM_001077525.3(MTMR14):c.1128-4T>C | not provided [RCV002099719] | likely benign | 3 | 9685207 | 9685207 | Human | | name |
| 156419335 | CV1932487 | single nucleotide variant | NM_001077525.3(MTMR14):c.1165-5T>C | not provided [RCV002612565] | uncertain significance | 3 | 9687816 | 9687816 | Human | | name |
| 155967874 | CV1967866 | single nucleotide variant | NM_001077525.3(MTMR14):c.964+18A>C | not provided [RCV002617039] | likely benign | 3 | 9683262 | 9683262 | Human | | name |
| 156277798 | CV1971222 | single nucleotide variant | NM_001077525.3(MTMR14):c.555-11C>T | not provided [RCV002598297] | likely benign | 3 | 9671037 | 9671037 | Human | | name |
| 155955920 | CV2069990 | single nucleotide variant | NM_001077525.3(MTMR14):c.1294+7C>G | not provided [RCV002816513] | likely benign | 3 | 9688761 | 9688761 | Human | | name |
| 156087045 | CV2095185 | single nucleotide variant | NM_001077525.3(MTMR14):c.965-13G>A | not provided [RCV002912901] | uncertain significance | 3 | 9684572 | 9684572 | Human | | name |
| 156214467 | CV2110851 | single nucleotide variant | NM_001077525.3(MTMR14):c.678-12C>G | not provided [RCV002918301] | likely benign | 3 | 9672673 | 9672673 | Human | | name |
| 156253828 | CV2117127 | single nucleotide variant | NM_001077525.3(MTMR14):c.678-10T>C | MTMR14-related disorder [RCV003936421]|not provided [RCV002933645] | likely benign | 3 | 9672675 | 9672675 | Human | 1 | name , trait , alternate_id |
| 156106272 | CV2139914 | single nucleotide variant | NM_001077525.3(MTMR14):c.308+18G>A | not provided [RCV003002406] | likely benign | 3 | 9653787 | 9653787 | Human | | name |
| 156220866 | CV2168297 | single nucleotide variant | NM_001077525.3(MTMR14):c.1433+3A>G | not provided [RCV003042714] | uncertain significance | 3 | 9689085 | 9689085 | Human | | name |
| 401922067 | CV2819861 | single nucleotide variant | NM_001077525.3(MTMR14):c.1434-4G>A | not provided [RCV003433390] | likely benign | 3 | 9689960 | 9689960 | Human | | name |
| 405220605 | CV2884297 | single nucleotide variant | NM_001077525.3(MTMR14):c.822+10A>G | not provided [RCV003553825] | likely benign | 3 | 9677397 | 9677397 | Human | | name |
| 405093313 | CV3045567 | single nucleotide variant | NM_001077525.3(MTMR14):c.752-10T>C | not provided [RCV003717978] | likely benign | 3 | 9677307 | 9677307 | Human | | name |
| 405176270 | CV3049403 | single nucleotide variant | NM_001077525.3(MTMR14):c.1236-3T>A | not provided [RCV003728368] | uncertain significance | 3 | 9688693 | 9688693 | Human | | name |
| 405246055 | CV3075695 | single nucleotide variant | NM_001077525.3(MTMR14):c.308+17C>G | not provided [RCV003738628] | uncertain significance | 3 | 9653786 | 9653786 | Human | | name |
| 597939089 | CV3756767 | single nucleotide variant | NM_001077525.3(MTMR14):c.822+12A>T | not provided [RCV005077148] | likely benign | 3 | 9677399 | 9677399 | Human | | name |
| 597885409 | CV3799971 | single nucleotide variant | NM_001077525.3(MTMR14):c.1128-3C>T | not provided [RCV005150450] | uncertain significance | 3 | 9685208 | 9685208 | Human | | name |
| 597871156 | CV3805961 | single nucleotide variant | NM_001077525.3(MTMR14):c.964+16C>T | not provided [RCV005148371] | likely benign | 3 | 9683260 | 9683260 | Human | | name |
| 597940941 | CV3836649 | single nucleotide variant | NM_001077525.3(MTMR14):c.417+15A>G | not provided [RCV005187670] | likely benign | 3 | 9662390 | 9662390 | Human | | name |
| 597886179 | CV3842299 | single nucleotide variant | NM_001077525.3(MTMR14):c.418-15A>T | not provided [RCV005178934] | likely benign | 3 | 9668704 | 9668704 | Human | | name |
| 597947938 | CV3852386 | single nucleotide variant | NM_001077525.3(MTMR14):c.1295-8T>G | not provided [RCV005189463] | likely benign | 3 | 9688936 | 9688936 | Human | | name |
| 597936973 | CV3855934 | single nucleotide variant | NM_001077525.3(MTMR14):c.752-15G>T | not provided [RCV005186900] | likely benign | 3 | 9677302 | 9677302 | Human | | name |
| 597882364 | CV3857574 | single nucleotide variant | NM_001077525.3(MTMR14):c.677+13G>A | not provided [RCV005199195] | likely benign | 3 | 9671183 | 9671183 | Human | | name |
| 597884308 | CV3858064 | single nucleotide variant | NM_001077525.3(MTMR14):c.677+14C>A | not provided [RCV005199492] | likely benign | 3 | 9671184 | 9671184 | Human | | name |
| 151810114 | CV1476527 | single nucleotide variant | NM_001077525.3(MTMR14):c.1235+16C>T | not provided [RCV001899862] | likely benign|uncertain significance | 3 | 9687907 | 9687907 | Human | | name |
| 151854987 | CV1506503 | single nucleotide variant | NM_001077525.3(MTMR14):c.1164+14C>G | not provided [RCV001937836] | likely benign|uncertain significance | 3 | 9685261 | 9685261 | Human | | name |
| 152031492 | CV1546668 | single nucleotide variant | NM_001077525.3(MTMR14):c.1236-16C>T | not provided [RCV002124565] | likely benign | 3 | 9688680 | 9688680 | Human | | name |
| 152145029 | CV1553701 | single nucleotide variant | NM_001077525.3(MTMR14):c.1236-15G>A | not provided [RCV002138686] | benign | 3 | 9688681 | 9688681 | Human | | name |
| 152129327 | CV1583880 | single nucleotide variant | NM_001077525.3(MTMR14):c.1165-18C>T | not provided [RCV002199111] | benign | 3 | 9687803 | 9687803 | Human | | name |
| 152087969 | CV1608611 | single nucleotide variant | NM_001077525.3(MTMR14):c.1164+17C>T | not provided [RCV002212317] | likely benign | 3 | 9685264 | 9685264 | Human | | name |
| 152176585 | CV1631606 | single nucleotide variant | NM_001077525.3(MTMR14):c.1050+13C>T | not provided [RCV002164731] | likely benign | 3 | 9684683 | 9684683 | Human | | name |
| 155950092 | CV1879087 | single nucleotide variant | NM_001077525.3(MTMR14):c.1235+12C>T | not provided [RCV003074096] | likely benign|uncertain significance | 3 | 9687903 | 9687903 | Human | | name |
| 156403003 | CV1885596 | single nucleotide variant | NM_001077525.3(MTMR14):c.1128-20C>G | not provided [RCV003069379] | likely benign | 3 | 9685191 | 9685191 | Human | | name |
| 156412372 | CV1966073 | single nucleotide variant | NM_001077525.3(MTMR14):c.1235+18C>T | not provided [RCV002587797] | likely benign | 3 | 9687909 | 9687909 | Human | | name |
| 156339937 | CV1974031 | single nucleotide variant | NM_001077525.3(MTMR14):c.1294+18A>G | not provided [RCV002601227] | likely benign | 3 | 9688772 | 9688772 | Human | | name |
| 155948512 | CV2029110 | single nucleotide variant | NM_001077525.3(MTMR14):c.1128-10C>T | not provided [RCV002730546] | likely benign | 3 | 9685201 | 9685201 | Human | | name |
| 405185474 | CV2967623 | single nucleotide variant | NM_001077525.3(MTMR14):c.1294+13C>T | not provided [RCV003676641] | likely benign | 3 | 9688767 | 9688767 | Human | | name |
| 405118679 | CV3030524 | single nucleotide variant | NM_001077525.3(MTMR14):c.1294+15C>T | not provided [RCV003700517] | likely benign | 3 | 9688769 | 9688769 | Human | | name |
| 405222028 | CV3038685 | single nucleotide variant | NM_001077525.3(MTMR14):c.1235+19G>A | not provided [RCV003710116] | likely benign | 3 | 9687910 | 9687910 | Human | | name |
| 407573923 | CV3498272 | single nucleotide variant | NM_001077525.3(MTMR14):c.1127+11G>A | not specified [RCV004702746] | likely benign | 3 | 9684975 | 9684975 | Human | | name |
| 597946739 | CV3755641 | single nucleotide variant | NM_001077525.3(MTMR14):c.1164+18G>A | not provided [RCV005078651] | likely benign | 3 | 9685265 | 9685265 | Human | | name |
| 597869325 | CV3835153 | single nucleotide variant | NM_001077525.3(MTMR14):c.1235+13C>T | not provided [RCV005176329] | likely benign | 3 | 9687904 | 9687904 | Human | | name |
| 402503765 | CV3032520 | single nucleotide variant | NM_001077525.3(MTMR14):c.6C>T (p.Ala2=) | not provided [RCV003714915] | likely benign | 3 | 9649589 | 9649589 | Human | | name |
| 152041615 | CV1555947 | single nucleotide variant | NM_001077525.3(MTMR14):c.27C>T (p.Ala9=) | not provided [RCV002188338] | likely benign | 3 | 9649610 | 9649610 | Human | | name |
| 597924763 | CV3778069 | deletion | NM_001077525.3(MTMR14):c.160-11_160-9del | not provided [RCV005130793] | likely benign | 3 | 9653608 | 9653610 | Human | | name |
| 151843709 | CV1339349 | single nucleotide variant | NM_001077525.3(MTMR14):c.39G>A (p.Ala13=) | not provided [RCV001978013] | likely benign|uncertain significance | 3 | 9649622 | 9649622 | Human | | name |
| 156221392 | CV1981313 | single nucleotide variant | NM_001077525.3(MTMR14):c.97C>T (p.Leu33=) | not provided [RCV002626459] | likely benign | 3 | 9649680 | 9649680 | Human | | name |
| 156111752 | CV2092962 | single nucleotide variant | NM_001077525.3(MTMR14):c.48G>A (p.Ser16=) | not provided [RCV002913807] | likely benign | 3 | 9649631 | 9649631 | Human | | name |
| 405225188 | CV2881937 | single nucleotide variant | NM_001077525.3(MTMR14):c.30T>G (p.Ala10=) | not provided [RCV003554534] | likely benign | 3 | 9649613 | 9649613 | Human | | name |
| 405151681 | CV2888566 | single nucleotide variant | NM_001077525.3(MTMR14):c.54T>C (p.Ser18=) | not provided [RCV003561776] | likely benign | 3 | 9649637 | 9649637 | Human | | name |
| 405234418 | CV3073895 | deletion | NM_001077525.3(MTMR14):c.494-17_494-14del | not provided [RCV003735614] | likely benign | 3 | 9669413 | 9669416 | Human | | name |
| 15113405 | CV691488 | single nucleotide variant | NM_001077525.3(MTMR14):c.66G>A (p.Gln22=) | MTMR14-related disorder [RCV003938318]|not provided [RCV000872733] | benign | 3 | 9649649 | 9649649 | Human | 1 | name , trait , alternate_id |
| 21068437 | CV795487 | microsatellite | NM_001077525.3(MTMR14):c.1295-7_1295-5del | not provided [RCV000997981] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 9688934 | 9688936 | Human | | name |
| 152036543 | CV1537169 | single nucleotide variant | NM_001077525.3(MTMR14):c.198C>T (p.Gly66=) | not provided [RCV002205680] | likely benign | 3 | 9653659 | 9653659 | Human | | name |
| 156184625 | CV1908733 | single nucleotide variant | NM_001077525.3(MTMR14):c.171T>C (p.Ile57=) | not provided [RCV002595174] | likely benign | 3 | 9653632 | 9653632 | Human | | name |
| 156230164 | CV1959125 | single nucleotide variant | NM_001077525.3(MTMR14):c.183T>C (p.Cys61=) | not provided [RCV002596778] | likely benign | 3 | 9653644 | 9653644 | Human | | name |
| 155989398 | CV2251313 | single nucleotide variant | NM_001077525.3(MTMR14):c.10G>A (p.Ala4Thr) | not specified [RCV004115524] | uncertain significance | 3 | 9649593 | 9649593 | Human | | name |
| 405113886 | CV3115363 | single nucleotide variant | NM_001077525.3(MTMR14):c.23C>T (p.Ala8Val) | not provided [RCV003814045] | uncertain significance | 3 | 9649606 | 9649606 | Human | | name |
| 405265097 | CV3185480 | single nucleotide variant | NM_001077525.3(MTMR14):c.165G>A (p.Glu55=) | not provided [RCV003886044] | likely benign | 3 | 9653626 | 9653626 | Human | | name |
| 151848690 | CV1353237 | single nucleotide variant | NM_001077525.3(MTMR14):c.678T>C (p.Asn226=) | not provided [RCV001922477] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 9672685 | 9672685 | Human | | name |
| 151804393 | CV1424806 | single nucleotide variant | NM_001077525.3(MTMR14):c.447A>T (p.Gly149=) | not provided [RCV001867419] | uncertain significance | 3 | 9668748 | 9668748 | Human | | name |
| 152157557 | CV1541799 | single nucleotide variant | NM_001077525.3(MTMR14):c.585C>T (p.Val195=) | not provided [RCV002103166] | likely benign | 3 | 9671078 | 9671078 | Human | | name |
| 152165595 | CV1543817 | single nucleotide variant | NM_001077525.3(MTMR14):c.321C>T (p.Thr107=) | not provided [RCV002124047] | likely benign | 3 | 9662279 | 9662279 | Human | | name |
| 152125115 | CV1554011 | single nucleotide variant | NM_001077525.3(MTMR14):c.744G>A (p.Pro248=) | not provided [RCV002098711] | likely benign | 3 | 9672751 | 9672751 | Human | | name |
| 152134450 | CV1576465 | single nucleotide variant | NM_001077525.3(MTMR14):c.976C>T (p.Leu326=) | not provided [RCV002119508] | likely benign | 3 | 9684596 | 9684596 | Human | | name |
| 152092319 | CV1593084 | single nucleotide variant | NM_001077525.3(MTMR14):c.337T>C (p.Leu113=) | not provided [RCV002094357] | likely benign | 3 | 9662295 | 9662295 | Human | | name |
| 152151231 | CV1605711 | single nucleotide variant | NM_001077525.3(MTMR14):c.720C>T (p.Ala240=) | not provided [RCV002102262] | likely benign | 3 | 9672727 | 9672727 | Human | | name |
| 152099685 | CV1606596 | single nucleotide variant | NM_001077525.3(MTMR14):c.528C>T (p.Asp176=) | not provided [RCV002195386] | likely benign | 3 | 9669466 | 9669466 | Human | | name |
| 152043735 | CV1621918 | single nucleotide variant | NM_001077525.3(MTMR14):c.534G>A (p.Thr178=) | not provided [RCV002108089] | likely benign | 3 | 9669472 | 9669472 | Human | | name |
| 152084047 | CV1648005 | single nucleotide variant | NM_001077525.3(MTMR14):c.915A>G (p.Gln305=) | not provided [RCV002076751] | likely benign | 3 | 9683195 | 9683195 | Human | | name |
| 152146967 | CV1656016 | deletion | NM_001077525.3(MTMR14):c.1770-20_1770-19del | not provided [RCV002220199] | benign | 3 | 9701769 | 9701770 | Human | | name |
| 156181834 | CV1868442 | single nucleotide variant | NM_001077525.3(MTMR14):c.918A>G (p.Gln306=) | not provided [RCV003041368] | likely benign | 3 | 9683198 | 9683198 | Human | | name |
| 156193579 | CV1893213 | single nucleotide variant | NM_001077525.3(MTMR14):c.744G>T (p.Pro248=) | not provided [RCV003083956] | likely benign | 3 | 9672751 | 9672751 | Human | | name |
| 156412530 | CV1904473 | single nucleotide variant | NM_001077525.3(MTMR14):c.348C>T (p.Leu116=) | not provided [RCV002587850] | likely benign | 3 | 9662306 | 9662306 | Human | | name |
| 156022735 | CV2040775 | single nucleotide variant | NM_001077525.3(MTMR14):c.41G>A (p.Gly14Glu) | not provided [RCV002795664] | uncertain significance | 3 | 9649624 | 9649624 | Human | | name |
| 156318981 | CV2111852 | single nucleotide variant | NM_001077525.3(MTMR14):c.92A>T (p.Glu31Val) | not provided [RCV002937625] | uncertain significance | 3 | 9649675 | 9649675 | Human | | name |
| 156226701 | CV2115319 | single nucleotide variant | NM_001077525.3(MTMR14):c.74A>G (p.Gln25Arg) | not provided [RCV002918778] | uncertain significance | 3 | 9649657 | 9649657 | Human | | name |
| 156026816 | CV2116540 | single nucleotide variant | NM_001077525.3(MTMR14):c.852C>T (p.Pro284=) | not provided [RCV002923330] | likely benign | 3 | 9678013 | 9678013 | Human | | name |
| 155956793 | CV2120457 | single nucleotide variant | NM_001077525.3(MTMR14):c.640C>T (p.Leu214=) | not provided [RCV002972166] | likely benign | 3 | 9671133 | 9671133 | Human | | name |
| 156016916 | CV2121453 | single nucleotide variant | NM_001077525.3(MTMR14):c.720C>G (p.Ala240=) | not provided [RCV002948581] | likely benign | 3 | 9672727 | 9672727 | Human | | name |
| 156355072 | CV2129826 | single nucleotide variant | NM_001077525.3(MTMR14):c.717T>C (p.Tyr239=) | not provided [RCV002966593] | likely benign | 3 | 9672724 | 9672724 | Human | | name |
| 329400799 | CV2448908 | single nucleotide variant | NM_001077525.3(MTMR14):c.58G>T (p.Gly20Cys) | not specified [RCV004261947] | uncertain significance | 3 | 9649641 | 9649641 | Human | | name |
| 11641215 | CV275310 | single nucleotide variant | NM_001077525.3(MTMR14):c.567G>A (p.Thr189=) | not provided [RCV000870936]|not specified [RCV000351660] | benign|likely benign | 3 | 9671060 | 9671060 | Human | | name |
| 404980396 | CV2850495 | single nucleotide variant | NM_001077525.3(MTMR14):c.83G>A (p.Gly28Glu) | not provided [RCV003488054] | uncertain significance | 3 | 9649666 | 9649666 | Human | | name |
| 405221020 | CV2884377 | single nucleotide variant | NM_001077525.3(MTMR14):c.86T>C (p.Leu29Pro) | not provided [RCV003553882] | uncertain significance | 3 | 9649669 | 9649669 | Human | | name |
| 405236434 | CV2884530 | single nucleotide variant | NM_001077525.3(MTMR14):c.370C>A (p.Arg124=) | not provided [RCV003556473] | likely benign | 3 | 9662328 | 9662328 | Human | | name |
| 405027124 | CV2890003 | single nucleotide variant | NM_001077525.3(MTMR14):c.979C>T (p.Leu327=) | not provided [RCV003578062] | likely benign | 3 | 9684599 | 9684599 | Human | | name |
| 405032008 | CV3009069 | single nucleotide variant | NM_001077525.3(MTMR14):c.624C>T (p.Val208=) | not provided [RCV003695644] | likely benign | 3 | 9671117 | 9671117 | Human | | name |
| 402503216 | CV3010690 | single nucleotide variant | NM_001077525.3(MTMR14):c.306C>T (p.Asp102=) | not provided [RCV003688590] | uncertain significance | 3 | 9653767 | 9653767 | Human | | name |
| 405201797 | CV3041353 | single nucleotide variant | NM_001077525.3(MTMR14):c.615C>T (p.Tyr205=) | not provided [RCV003707458] | likely benign | 3 | 9671108 | 9671108 | Human | | name |
| 405149338 | CV3123242 | single nucleotide variant | NM_001077525.3(MTMR14):c.567G>C (p.Thr189=) | not provided [RCV003817475] | likely benign | 3 | 9671060 | 9671060 | Human | | name |
| 405014175 | CV3138862 | single nucleotide variant | NM_001077525.3(MTMR14):c.801G>A (p.Gly267=) | not provided [RCV003829199] | likely benign | 3 | 9677366 | 9677366 | Human | | name |
| 405853544 | CV3392832 | single nucleotide variant | NM_001077525.3(MTMR14):c.85C>G (p.Leu29Val) | not specified [RCV004526558] | uncertain significance | 3 | 9649668 | 9649668 | Human | | name |
| 597948008 | CV3759064 | single nucleotide variant | NM_001077525.3(MTMR14):c.414C>G (p.Gly138=) | not provided [RCV005078860] | likely benign | 3 | 9662372 | 9662372 | Human | | name |
| 597968962 | CV3761269 | single nucleotide variant | NM_001077525.3(MTMR14):c.303A>G (p.Lys101=) | not provided [RCV005083656] | likely benign | 3 | 9653764 | 9653764 | Human | | name |
| 597872295 | CV3805299 | single nucleotide variant | NM_001077525.3(MTMR14):c.67C>T (p.Pro23Ser) | not provided [RCV005148577] | uncertain significance | 3 | 9649650 | 9649650 | Human | | name |
| 597842215 | CV3822042 | single nucleotide variant | NM_001077525.3(MTMR14):c.651G>A (p.Glu217=) | not provided [RCV005172356] | likely benign | 3 | 9671144 | 9671144 | Human | | name |
| 597844407 | CV3827455 | single nucleotide variant | NM_001077525.3(MTMR14):c.495G>T (p.Gly165=) | not provided [RCV005172726] | likely benign | 3 | 9669433 | 9669433 | Human | | name |
| 597903184 | CV3835881 | single nucleotide variant | NM_001077525.3(MTMR14):c.612A>T (p.Arg204=) | not provided [RCV005181416] | likely benign | 3 | 9671105 | 9671105 | Human | | name |
| 597906365 | CV3846705 | single nucleotide variant | NM_001077525.3(MTMR14):c.73C>G (p.Gln25Glu) | not provided [RCV005182132] | uncertain significance | 3 | 9649656 | 9649656 | Human | | name |
| 597931183 | CV3862437 | single nucleotide variant | NM_001077525.3(MTMR14):c.879T>C (p.Ile293=) | not provided [RCV005206682] | likely benign | 3 | 9678040 | 9678040 | Human | | name |
| 13517129 | CV489166 | single nucleotide variant | NM_001077525.3(MTMR14):c.540G>A (p.Glu180=) | not provided [RCV000596314] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 9669478 | 9669478 | Human | | name |
| 13834422 | CV585668 | single nucleotide variant | NM_001077525.3(MTMR14):c.480C>T (p.Asn160=) | not provided [RCV000729935] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 9668781 | 9668781 | Human | | name |
| 15138914 | CV691489 | single nucleotide variant | NM_001077525.3(MTMR14):c.972C>T (p.Ser324=) | not provided [RCV000877234] | likely benign | 3 | 9684592 | 9684592 | Human | | name |
| 126740931 | CV1016328 | single nucleotide variant | NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter) | Autosomal dominant centronuclear myopathy [RCV001329564]|not provided [RCV003698861] | likely pathogenic|uncertain significance | 3 | 9653660 | 9653660 | Human | 2 | name |
| 151802494 | CV1437590 | duplication | NM_001077525.3(MTMR14):c.488dup (p.Ser164fs) | not provided [RCV001899189] | uncertain significance | 3 | 9668783 | 9668784 | Human | | name |
| 151815224 | CV1475713 | single nucleotide variant | NM_001077525.3(MTMR14):c.110C>T (p.Ser37Phe) | not provided [RCV001992219] | uncertain significance | 3 | 9649693 | 9649693 | Human | | name |
| 151834318 | CV1489062 | single nucleotide variant | NM_001077525.3(MTMR14):c.260G>A (p.Arg87Gln) | not provided [RCV001902124]|not specified [RCV004039832] | likely benign|uncertain significance | 3 | 9653721 | 9653721 | Human | | name |
| 152059722 | CV1559083 | single nucleotide variant | NM_001077525.3(MTMR14):c.1845A>G (p.Thr615=) | not provided [RCV002167854] | likely benign | 3 | 9701865 | 9701865 | Human | | name |
| 152073937 | CV1570312 | single nucleotide variant | NM_001077525.3(MTMR14):c.1230C>G (p.Thr410=) | not provided [RCV002210343] | likely benign | 3 | 9687886 | 9687886 | Human | | name |
| 152087024 | CV1573999 | single nucleotide variant | NM_001077525.3(MTMR14):c.1272C>T (p.Thr424=) | not provided [RCV002150072] | likely benign | 3 | 9688732 | 9688732 | Human | | name |
| 152165717 | CV1597250 | single nucleotide variant | NM_001077525.3(MTMR14):c.1246T>C (p.Leu416=) | not provided [RCV002124074] | likely benign | 3 | 9688706 | 9688706 | Human | | name |
| 152105689 | CV1609526 | single nucleotide variant | NM_001077525.3(MTMR14):c.1377C>T (p.Ser459=) | not provided [RCV002115905] | benign | 3 | 9689026 | 9689026 | Human | | name |
| 152040758 | CV1644197 | single nucleotide variant | NM_001077525.3(MTMR14):c.1008G>C (p.Arg336=) | not provided [RCV002126058] | likely benign | 3 | 9684628 | 9684628 | Human | | name |
| 156341776 | CV1898882 | single nucleotide variant | NM_001077525.3(MTMR14):c.142G>A (p.Gly48Arg) | not provided [RCV003090405] | uncertain significance | 3 | 9649725 | 9649725 | Human | | name |
| 156175813 | CV1927662 | single nucleotide variant | NM_001077525.3(MTMR14):c.1842C>T (p.Ser614=) | not provided [RCV002624869] | likely benign | 3 | 9701862 | 9701862 | Human | | name |
| 156419775 | CV1970571 | single nucleotide variant | NM_001077525.3(MTMR14):c.1833G>A (p.Ala611=) | not provided [RCV002613018] | likely benign | 3 | 9701853 | 9701853 | Human | | name |
| 156091723 | CV2077283 | single nucleotide variant | NM_001077525.3(MTMR14):c.279G>T (p.Glu93Asp) | not provided [RCV002847741] | uncertain significance | 3 | 9653740 | 9653740 | Human | | name |
| 156043481 | CV2094237 | single nucleotide variant | NM_001077525.3(MTMR14):c.208T>C (p.Cys70Arg) | not provided [RCV002885904] | uncertain significance | 3 | 9653669 | 9653669 | Human | | name |
| 156035522 | CV2097707 | single nucleotide variant | NM_001077525.3(MTMR14):c.166C>G (p.Arg56Gly) | not provided [RCV002885588]|not specified [RCV004065957] | uncertain significance | 3 | 9653627 | 9653627 | Human | | name |
| 156236959 | CV2183763 | single nucleotide variant | NM_001077525.3(MTMR14):c.203A>G (p.Asp68Gly) | not provided [RCV003059521] | uncertain significance | 3 | 9653664 | 9653664 | Human | | name |
| 156234667 | CV2223978 | single nucleotide variant | NM_001077525.3(MTMR14):c.100G>C (p.Glu34Gln) | not specified [RCV004094231] | uncertain significance | 3 | 9649683 | 9649683 | Human | | name |
| 156140923 | CV2280871 | single nucleotide variant | NM_001077525.3(MTMR14):c.132G>T (p.Lys44Asn) | not specified [RCV004145124] | uncertain significance | 3 | 9649715 | 9649715 | Human | | name |
| 156350530 | CV2316224 | single nucleotide variant | NM_001077525.3(MTMR14):c.217G>A (p.Val73Met) | not specified [RCV004174259] | uncertain significance | 3 | 9653678 | 9653678 | Human | | name |
| 402499657 | CV2850493 | single nucleotide variant | NM_001077525.3(MTMR14):c.200G>A (p.Arg67Gln) | not provided [RCV003488052] | uncertain significance | 3 | 9653661 | 9653661 | Human | | name |
| 404980413 | CV2850499 | single nucleotide variant | NM_001077525.3(MTMR14):c.241A>C (p.Ile81Leu) | not provided [RCV003488058] | uncertain significance | 3 | 9653702 | 9653702 | Human | | name |
| 404980426 | CV2850502 | single nucleotide variant | NM_001077525.3(MTMR14):c.250C>T (p.His84Tyr) | not provided [RCV003488061]|not specified [RCV004364889] | uncertain significance | 3 | 9653711 | 9653711 | Human | | name |
| 402518694 | CV2870792 | single nucleotide variant | NM_001077525.3(MTMR14):c.214A>C (p.Ser72Arg) | not provided [RCV003547531] | uncertain significance | 3 | 9653675 | 9653675 | Human | | name |
| 402504020 | CV2879939 | single nucleotide variant | NM_001077525.3(MTMR14):c.1887C>T (p.Ile629=) | not provided [RCV003546194] | likely benign | 3 | 9701907 | 9701907 | Human | | name |
| 405221634 | CV2880836 | single nucleotide variant | NM_001077525.3(MTMR14):c.167G>A (p.Arg56His) | not provided [RCV003554018] | uncertain significance | 3 | 9653628 | 9653628 | Human | | name |
| 405127500 | CV2883127 | single nucleotide variant | NM_001077525.3(MTMR14):c.1294A>C (p.Arg432=) | not provided [RCV003559715] | uncertain significance | 3 | 9688754 | 9688754 | Human | | name |
| 405226798 | CV2888840 | single nucleotide variant | NM_001077525.3(MTMR14):c.1203C>T (p.Thr401=) | not provided [RCV003554804] | likely benign | 3 | 9687859 | 9687859 | Human | | name |
| 405222697 | CV2891114 | single nucleotide variant | NM_001077525.3(MTMR14):c.1416G>A (p.Ala472=) | MTMR14-related disorder [RCV003909022]|not provided [RCV003554167] | likely benign | 3 | 9689065 | 9689065 | Human | 1 | name , trait , alternate_id |
| 405067762 | CV2936793 | single nucleotide variant | NM_001077525.3(MTMR14):c.1344G>A (p.Leu448=) | not provided [RCV003659233] | benign | 3 | 9688993 | 9688993 | Human | | name |
| 402479623 | CV2990951 | single nucleotide variant | NM_001077525.3(MTMR14):c.151G>T (p.Gly51Cys) | not provided [RCV003686459] | uncertain significance | 3 | 9649734 | 9649734 | Human | | name |
| 404980199 | CV3009823 | single nucleotide variant | NM_001077525.3(MTMR14):c.1179C>T (p.Cys393=) | not provided [RCV003691092] | uncertain significance | 3 | 9687835 | 9687835 | Human | | name |
| 405121907 | CV3024681 | single nucleotide variant | NM_001077525.3(MTMR14):c.1200T>C (p.Ile400=) | not provided [RCV003700847] | likely benign | 3 | 9687856 | 9687856 | Human | | name |
| 405132309 | CV3133381 | single nucleotide variant | NM_001077525.3(MTMR14):c.133G>T (p.Asp45Tyr) | not provided [RCV003838351] | uncertain significance | 3 | 9649716 | 9649716 | Human | | name |
| 405254983 | CV3175646 | single nucleotide variant | NM_001077525.3(MTMR14):c.1821C>A (p.Ala607=) | not provided [RCV003871913] | likely benign | 3 | 9701841 | 9701841 | Human | | name |
| 405852984 | CV3393414 | single nucleotide variant | NM_001077525.3(MTMR14):c.1083T>G (p.Thr361=) | not provided [RCV004546144] | likely benign | 3 | 9684920 | 9684920 | Human | | name |
| 597891841 | CV3750076 | single nucleotide variant | NM_001077525.3(MTMR14):c.1332C>T (p.Ser444=) | not provided [RCV005071237] | likely benign | 3 | 9688981 | 9688981 | Human | | name |
| 597927283 | CV3783407 | single nucleotide variant | NM_001077525.3(MTMR14):c.1801C>T (p.Leu601=) | not provided [RCV005116094] | likely benign | 3 | 9701821 | 9701821 | Human | | name |
| 597960119 | CV3843557 | single nucleotide variant | NM_001077525.3(MTMR14):c.224C>G (p.Pro75Arg) | not provided [RCV005192594] | uncertain significance | 3 | 9653685 | 9653685 | Human | | name |
| 13445765 | CV438235 | single nucleotide variant | NM_001077525.3(MTMR14):c.1893C>T (p.Gly631=) | not provided [RCV000512834] | uncertain significance | 3 | 9701913 | 9701913 | Human | | name |
| 13522120 | CV492344 | single nucleotide variant | NM_001077525.3(MTMR14):c.187G>T (p.Glu63Ter) | not provided [RCV000591329] | uncertain significance | 3 | 9653648 | 9653648 | Human | | name |
| 13833868 | CV585108 | single nucleotide variant | NM_001077525.3(MTMR14):c.1089C>T (p.Ile363=) | not provided [RCV000729254] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 9684926 | 9684926 | Human | | name |
| 15104317 | CV686470 | single nucleotide variant | NM_001077525.3(MTMR14):c.1125C>T (p.Phe375=) | not provided [RCV000870839] | benign | 3 | 9684962 | 9684962 | Human | | name |
| 15103730 | CV686471 | single nucleotide variant | NM_001077525.3(MTMR14):c.1386T>C (p.Tyr462=) | not provided [RCV000870730] | benign|likely benign | 3 | 9689035 | 9689035 | Human | | name |
| 15188204 | CV698305 | single nucleotide variant | NM_001077525.3(MTMR14):c.1068G>A (p.Thr356=) | not provided [RCV000953812] | likely benign | 3 | 9684905 | 9684905 | Human | | name |
| 15201239 | CV720660 | single nucleotide variant | NM_001077525.3(MTMR14):c.1392C>T (p.Ala464=) | not provided [RCV000891138] | likely benign | 3 | 9689041 | 9689041 | Human | | name |
| 21068433 | CV795485 | single nucleotide variant | NM_001077525.3(MTMR14):c.256C>T (p.Pro86Ser) | not provided [RCV000997979]|not specified [RCV004030231] | uncertain significance | 3 | 9653717 | 9653717 | Human | | name |
| 8625677 | CV80801 | single nucleotide variant | NM_001077525.2(MTMR14):c.1041C>T (p.Ser347=) | Malignant melanoma [RCV000060878] | not provided | 3 | 9684661 | 9684661 | Human | | name |
| 151793551 | CV1372420 | single nucleotide variant | NM_001077525.3(MTMR14):c.818A>G (p.Lys273Arg) | not provided [RCV001973271]|not specified [RCV004044712] | uncertain significance | 3 | 9677383 | 9677383 | Human | | name |
| 151864453 | CV1374643 | single nucleotide variant | NM_001077525.3(MTMR14):c.482A>C (p.Tyr161Ser) | not provided [RCV001884363] | uncertain significance | 3 | 9668783 | 9668783 | Human | | name |
| 151709182 | CV1375772 | single nucleotide variant | NM_001077525.3(MTMR14):c.504T>G (p.Asp168Glu) | not provided [RCV001963938] | uncertain significance | 3 | 9669442 | 9669442 | Human | | name |
| 151748407 | CV1383198 | single nucleotide variant | NM_001077525.3(MTMR14):c.970A>G (p.Ser324Gly) | not provided [RCV001947870] | uncertain significance | 3 | 9684590 | 9684590 | Human | | name |
| 151874891 | CV1418945 | single nucleotide variant | NM_001077525.3(MTMR14):c.409A>G (p.Lys137Glu) | not provided [RCV001906944] | uncertain significance | 3 | 9662367 | 9662367 | Human | | name |
| 151791385 | CV1475660 | single nucleotide variant | NM_001077525.3(MTMR14):c.520G>A (p.Val174Met) | not provided [RCV001973089] | uncertain significance | 3 | 9669458 | 9669458 | Human | | name |
| 151881899 | CV1484383 | single nucleotide variant | NM_001077525.3(MTMR14):c.593A>C (p.Tyr198Ser) | not provided [RCV001941178] | uncertain significance | 3 | 9671086 | 9671086 | Human | | name |
| 151838102 | CV1487325 | single nucleotide variant | NM_001077525.3(MTMR14):c.628T>C (p.Tyr210His) | not provided [RCV001935777]|not specified [RCV004043538] | uncertain significance | 3 | 9671121 | 9671121 | Human | | name |
| 151839005 | CV1501477 | single nucleotide variant | NM_001077525.3(MTMR14):c.962A>T (p.Asp321Val) | not provided [RCV001977457]|not specified [RCV004042226] | uncertain significance | 3 | 9683242 | 9683242 | Human | | name |
| 151773411 | CV1504907 | single nucleotide variant | NM_001077525.3(MTMR14):c.982G>A (p.Val328Ile) | not provided [RCV001988455] | uncertain significance | 3 | 9684602 | 9684602 | Human | | name |
| 151789749 | CV1512686 | single nucleotide variant | NM_001077525.3(MTMR14):c.370C>T (p.Arg124Trp) | not provided [RCV001876396] | uncertain significance | 3 | 9662328 | 9662328 | Human | | name |
| 156074602 | CV1890048 | single nucleotide variant | NM_001077525.3(MTMR14):c.798A>C (p.Glu266Asp) | not provided [RCV003079658] | uncertain significance | 3 | 9677363 | 9677363 | Human | | name |
| 156346707 | CV1970570 | single nucleotide variant | NM_001077525.3(MTMR14):c.721G>A (p.Asp241Asn) | not provided [RCV002601559] | uncertain significance | 3 | 9672728 | 9672728 | Human | | name |
| 156339961 | CV1974033 | single nucleotide variant | NM_001077525.3(MTMR14):c.960T>G (p.Ser320Arg) | not provided [RCV002601228] | uncertain significance | 3 | 9683240 | 9683240 | Human | | name |
| 156182564 | CV2102522 | single nucleotide variant | NM_001077525.3(MTMR14):c.931C>G (p.Leu311Val) | not provided [RCV002917188] | uncertain significance | 3 | 9683211 | 9683211 | Human | | name |
| 156091938 | CV2106184 | single nucleotide variant | NM_001077525.3(MTMR14):c.360C>G (p.Ser120Arg) | not provided [RCV002952393]|not specified [RCV004067172] | uncertain significance | 3 | 9662318 | 9662318 | Human | | name |
| 156200210 | CV2110008 | single nucleotide variant | NM_001077525.3(MTMR14):c.850C>T (p.Pro284Ser) | not provided [RCV002957351] | uncertain significance | 3 | 9678011 | 9678011 | Human | | name |
| 156134120 | CV2118896 | single nucleotide variant | NM_001077525.3(MTMR14):c.713G>A (p.Arg238His) | not provided [RCV002953987] | uncertain significance | 3 | 9672720 | 9672720 | Human | | name |
| 156103246 | CV2132392 | single nucleotide variant | NM_001077525.3(MTMR14):c.782G>A (p.Arg261Gln) | not provided [RCV003002295] | uncertain significance | 3 | 9677347 | 9677347 | Human | | name |
| 156161519 | CV2139329 | single nucleotide variant | NM_001077525.3(MTMR14):c.322G>A (p.Val108Ile) | not provided [RCV002983024] | uncertain significance | 3 | 9662280 | 9662280 | Human | | name |
| 155933616 | CV2228952 | single nucleotide variant | NM_001077525.3(MTMR14):c.456G>T (p.Glu152Asp) | not specified [RCV004098745] | uncertain significance | 3 | 9668757 | 9668757 | Human | | name |
| 156203188 | CV2256294 | single nucleotide variant | NM_001077525.3(MTMR14):c.539A>G (p.Glu180Gly) | not specified [RCV004116540] | uncertain significance | 3 | 9669477 | 9669477 | Human | | name |
| 156039266 | CV2279006 | single nucleotide variant | NM_001077525.3(MTMR14):c.560G>A (p.Gly187Asp) | not specified [RCV004145694] | uncertain significance | 3 | 9671053 | 9671053 | Human | | name |
| 156277608 | CV2328301 | single nucleotide variant | NM_001077525.3(MTMR14):c.626A>G (p.Lys209Arg) | not provided [RCV003491285]|not specified [RCV004175420] | uncertain significance | 3 | 9671119 | 9671119 | Human | | name |
| 156309082 | CV2366526 | single nucleotide variant | NM_001077525.3(MTMR14):c.535G>C (p.Glu179Gln) | not specified [RCV004208501] | uncertain significance | 3 | 9669473 | 9669473 | Human | | name |
| 329359187 | CV2435333 | single nucleotide variant | NM_001077525.3(MTMR14):c.496G>C (p.Gly166Arg) | not provided [RCV003565629]|not specified [RCV004252993] | uncertain significance | 3 | 9669434 | 9669434 | Human | | name |
| 11638822 | CV266962 | single nucleotide variant | NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu) | MTMR14-related disorder [RCV003955444]|not provided [RCV000310432] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 9677345 | 9677345 | Human | 1 | name , trait , alternate_id |
| 401720437 | CV2701886 | single nucleotide variant | NM_001077525.3(MTMR14):c.440T>C (p.Leu147Pro) | not specified [RCV004320506] | uncertain significance | 3 | 9668741 | 9668741 | Human | | name |
| 402499671 | CV2850494 | single nucleotide variant | NM_001077525.3(MTMR14):c.808T>C (p.Phe270Leu) | not provided [RCV003488053]|not specified [RCV004364888] | uncertain significance | 3 | 9677373 | 9677373 | Human | | name |
| 404980398 | CV2850496 | single nucleotide variant | NM_001077525.3(MTMR14):c.814T>G (p.Trp272Gly) | not provided [RCV003488055] | uncertain significance | 3 | 9677379 | 9677379 | Human | | name |
| 404980425 | CV2850501 | single nucleotide variant | NM_001077525.3(MTMR14):c.743C>G (p.Pro248Arg) | not provided [RCV003488060] | uncertain significance | 3 | 9672750 | 9672750 | Human | | name |
| 405175725 | CV2864622 | single nucleotide variant | NM_001077525.3(MTMR14):c.497G>C (p.Gly166Ala) | not provided [RCV003542740]|not specified [RCV004364928] | uncertain significance | 3 | 9669435 | 9669435 | Human | | name |
| 405195649 | CV2868596 | single nucleotide variant | NM_001077525.3(MTMR14):c.371G>A (p.Arg124Gln) | not provided [RCV003550724] | uncertain significance | 3 | 9662329 | 9662329 | Human | | name |
| 405209494 | CV2910172 | single nucleotide variant | NM_001077525.3(MTMR14):c.853G>A (p.Asp285Asn) | not provided [RCV003566958] | uncertain significance | 3 | 9678014 | 9678014 | Human | | name |
| 404980866 | CV3006255 | single nucleotide variant | NM_001077525.3(MTMR14):c.557G>A (p.Ser186Asn) | not provided [RCV003691212] | uncertain significance | 3 | 9671050 | 9671050 | Human | | name |
| 402498083 | CV3038172 | single nucleotide variant | NM_001077525.3(MTMR14):c.482A>G (p.Tyr161Cys) | not provided [RCV003714457] | uncertain significance | 3 | 9668783 | 9668783 | Human | | name |
| 405135846 | CV3052170 | single nucleotide variant | NM_001077525.3(MTMR14):c.431C>T (p.Ser144Leu) | not provided [RCV003725230] | uncertain significance | 3 | 9668732 | 9668732 | Human | | name |
| 405203001 | CV3052791 | single nucleotide variant | NM_001077525.3(MTMR14):c.593A>G (p.Tyr198Cys) | not provided [RCV003730974] | uncertain significance | 3 | 9671086 | 9671086 | Human | | name |
| 405184106 | CV3124138 | single nucleotide variant | NM_001077525.3(MTMR14):c.590G>A (p.Gly197Asp) | not provided [RCV003820336] | uncertain significance | 3 | 9671083 | 9671083 | Human | | name |
| 405268481 | CV3187052 | single nucleotide variant | NM_001077525.3(MTMR14):c.797A>T (p.Glu266Val) | not provided [RCV003887135] | uncertain significance | 3 | 9677362 | 9677362 | Human | | name |
| 405658138 | CV3376676 | single nucleotide variant | NM_001077525.3(MTMR14):c.410A>C (p.Lys137Thr) | not specified [RCV004511975] | uncertain significance | 3 | 9662368 | 9662368 | Human | | name |
| 405658240 | CV3376708 | single nucleotide variant | NM_001077525.3(MTMR14):c.649G>A (p.Glu217Lys) | not specified [RCV004512007] | uncertain significance | 3 | 9671142 | 9671142 | Human | | name |
| 405658259 | CV3376713 | single nucleotide variant | NM_001077525.3(MTMR14):c.835G>A (p.Ala279Thr) | not specified [RCV004512012] | uncertain significance | 3 | 9677996 | 9677996 | Human | | name |
| 407573136 | CV3498937 | single nucleotide variant | NM_001077525.3(MTMR14):c.702C>A (p.Asp234Glu) | not provided [RCV005059775]|not specified [RCV004699906] | uncertain significance | 3 | 9672709 | 9672709 | Human | | name |
| 12848942 | CV363970 | single nucleotide variant | NM_001077525.3(MTMR14):c.727A>G (p.Thr243Ala) | not provided [RCV000421174]|not specified [RCV004022270] | uncertain significance | 3 | 9672734 | 9672734 | Human | | name |
| 597881044 | CV3744891 | single nucleotide variant | NM_001077525.3(MTMR14):c.333C>G (p.Ser111Arg) | not provided [RCV005069916] | uncertain significance | 3 | 9662291 | 9662291 | Human | | name |
| 597947444 | CV3771686 | single nucleotide variant | NM_001077525.3(MTMR14):c.983T>C (p.Val328Ala) | not provided [RCV005120211] | uncertain significance | 3 | 9684603 | 9684603 | Human | | name |
| 597892216 | CV3785298 | single nucleotide variant | NM_001077525.3(MTMR14):c.829G>A (p.Val277Ile) | not provided [RCV005125883] | uncertain significance | 3 | 9677990 | 9677990 | Human | | name |
| 597878394 | CV3813680 | single nucleotide variant | NM_001077525.3(MTMR14):c.743C>A (p.Pro248Gln) | not provided [RCV005149422] | uncertain significance | 3 | 9672750 | 9672750 | Human | | name |
| 597968843 | CV3821275 | single nucleotide variant | NM_001077525.3(MTMR14):c.737C>G (p.Ser246Cys) | not provided [RCV005165917] | uncertain significance | 3 | 9672744 | 9672744 | Human | | name |
| 597855496 | CV3821730 | single nucleotide variant | NM_001077525.3(MTMR14):c.496G>A (p.Gly166Ser) | not provided [RCV005174208] | uncertain significance | 3 | 9669434 | 9669434 | Human | | name |
| 597975796 | CV3828701 | single nucleotide variant | NM_001077525.3(MTMR14):c.355C>T (p.Arg119Cys) | not provided [RCV005169330]|not specified [RCV005379783] | uncertain significance | 3 | 9662313 | 9662313 | Human | | name |
| 597900218 | CV3835318 | single nucleotide variant | NM_001077525.3(MTMR14):c.529G>A (p.Val177Ile) | not provided [RCV005181040] | uncertain significance | 3 | 9669467 | 9669467 | Human | | name |
| 597960124 | CV3843558 | single nucleotide variant | NM_001077525.3(MTMR14):c.368C>T (p.Ala123Val) | not provided [RCV005192595] | uncertain significance | 3 | 9662326 | 9662326 | Human | | name |
| 597906125 | CV3846668 | single nucleotide variant | NM_001077525.3(MTMR14):c.466C>T (p.Arg156Cys) | not provided [RCV005182095] | uncertain significance | 3 | 9668767 | 9668767 | Human | | name |
| 598227360 | CV3990066 | single nucleotide variant | NM_001077525.3(MTMR14):c.641T>A (p.Leu214Gln) | not specified [RCV005380714] | uncertain significance | 3 | 9671134 | 9671134 | Human | | name |
| 15105546 | CV686469 | single nucleotide variant | NM_001077525.3(MTMR14):c.519T>A (p.Asp173Glu) | MTMR14-related disorder [RCV003920400]|not provided [RCV000871122] | benign|likely benign | 3 | 9669457 | 9669457 | Human | 1 | name , trait , alternate_id |
| 151758611 | CV1340561 | single nucleotide variant | NM_001077525.3(MTMR14):c.1265G>A (p.Gly422Asp) | not provided [RCV001913719] | uncertain significance | 3 | 9688725 | 9688725 | Human | | name |
| 151724711 | CV1369960 | single nucleotide variant | NM_001077525.3(MTMR14):c.1057C>G (p.Leu353Val) | not provided [RCV001945373] | uncertain significance | 3 | 9684894 | 9684894 | Human | | name |
| 151829294 | CV1372148 | single nucleotide variant | NM_001077525.3(MTMR14):c.1814G>A (p.Arg605His) | not provided [RCV001955519] | uncertain significance | 3 | 9701834 | 9701834 | Human | | name |
| 151870144 | CV1375384 | single nucleotide variant | NM_001077525.3(MTMR14):c.1313G>C (p.Ser438Thr) | not provided [RCV001960314] | uncertain significance | 3 | 9688962 | 9688962 | Human | | name |
| 151742012 | CV1390789 | single nucleotide variant | NM_001077525.3(MTMR14):c.1094A>G (p.Tyr365Cys) | not provided [RCV001985328] | uncertain significance | 3 | 9684931 | 9684931 | Human | | name |
| 151767630 | CV1415129 | single nucleotide variant | NM_001077525.3(MTMR14):c.1855C>T (p.Arg619Trp) | not provided [RCV001929208] | uncertain significance | 3 | 9701875 | 9701875 | Human | | name |
| 151837597 | CV1445207 | single nucleotide variant | NM_001077525.3(MTMR14):c.1310G>A (p.Gly437Asp) | not provided [RCV001994360] | uncertain significance | 3 | 9688959 | 9688959 | Human | | name |
| 151755407 | CV1453966 | single nucleotide variant | NM_001077525.3(MTMR14):c.1307G>A (p.Arg436His) | not provided [RCV001913400] | uncertain significance | 3 | 9688956 | 9688956 | Human | | name |
| 151757821 | CV1459801 | single nucleotide variant | NM_001077525.3(MTMR14):c.1913G>A (p.Arg638His) | not provided [RCV001986928] | uncertain significance | 3 | 9701933 | 9701933 | Human | | name |
| 151875044 | CV1466708 | single nucleotide variant | NM_001077525.3(MTMR14):c.1376G>A (p.Ser459Asn) | not provided [RCV001885755] | uncertain significance | 3 | 9689025 | 9689025 | Human | | name |
| 151856724 | CV1470103 | single nucleotide variant | NM_001077525.3(MTMR14):c.1345G>A (p.Val449Ile) | not provided [RCV001883419] | uncertain significance | 3 | 9688994 | 9688994 | Human | | name |
| 151808663 | CV1483550 | single nucleotide variant | NM_001077525.3(MTMR14):c.1300A>G (p.Lys434Glu) | not provided [RCV001918389] | uncertain significance | 3 | 9688949 | 9688949 | Human | | name |
| 151786389 | CV1490073 | single nucleotide variant | NM_001077525.3(MTMR14):c.1799G>A (p.Arg600Gln) | not provided [RCV001930948]|not specified [RCV004043622] | uncertain significance | 3 | 9701819 | 9701819 | Human | | name |
| 152088507 | CV1541352 | single nucleotide variant | NM_001077525.3(MTMR14):c.1928G>A (p.Arg643Gln) | not provided [RCV002171520] | benign | 3 | 9701948 | 9701948 | Human | | name |
| 8555924 | CV16059 | single nucleotide variant | NM_001077525.3(MTMR14):c.1007G>A (p.Arg336Gln) | MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF [RCV000001075]|not provided [RCV002512631] | pathogenic|risk factor|uncertain significance | 3 | 9684627 | 9684627 | Human | 1 | name |
| 8555925 | CV16060 | single nucleotide variant | NM_001077525.3(MTMR14):c.1385A>G (p.Tyr462Cys) | MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF [RCV000001076]|not provided [RCV001851525] | pathogenic|risk factor|uncertain significance | 3 | 9689034 | 9689034 | Human | 1 | name |
| 156374948 | CV1871856 | single nucleotide variant | NM_001077525.3(MTMR14):c.1393G>A (p.Val465Met) | not provided [RCV003066631] | uncertain significance | 3 | 9689042 | 9689042 | Human | | name |
| 10047797 | CV191280 | single nucleotide variant | NM_001077525.3(MTMR14):c.1067C>T (p.Thr356Met) | MTMR14-related disorder [RCV003955025]|not provided [RCV002056920]|not specified [RCV000174402] | benign|likely benign | 3 | 9684904 | 9684904 | Human | 1 | name , trait , alternate_id |
| 156364711 | CV1934900 | single nucleotide variant | NM_001077525.3(MTMR14):c.1879G>A (p.Gly627Ser) | not provided [RCV002651880] | uncertain significance | 3 | 9701899 | 9701899 | Human | | name |
| 156340396 | CV1974061 | single nucleotide variant | NM_001077525.3(MTMR14):c.1256G>A (p.Arg419Gln) | not provided [RCV002601249] | uncertain significance | 3 | 9688716 | 9688716 | Human | | name |
| 156384298 | CV1979819 | single nucleotide variant | NM_001077525.3(MTMR14):c.1039T>C (p.Ser347Pro) | not provided [RCV002634507] | uncertain significance | 3 | 9684659 | 9684659 | Human | | name |
| 156291891 | CV2047271 | single nucleotide variant | NM_001077525.3(MTMR14):c.1351G>C (p.Glu451Gln) | not provided [RCV002770807] | uncertain significance | 3 | 9689000 | 9689000 | Human | | name |
| 156327199 | CV2094512 | single nucleotide variant | NM_001077525.3(MTMR14):c.1006C>T (p.Arg336Trp) | not provided [RCV002899701] | uncertain significance | 3 | 9684626 | 9684626 | Human | | name |
| 156120190 | CV2107550 | single nucleotide variant | NM_001077525.3(MTMR14):c.1360C>T (p.Pro454Ser) | not provided [RCV002914132] | uncertain significance | 3 | 9689009 | 9689009 | Human | | name |
| 156120348 | CV2128497 | single nucleotide variant | NM_001077525.3(MTMR14):c.1207G>A (p.Glu403Lys) | not provided [RCV002953472] | uncertain significance | 3 | 9687863 | 9687863 | Human | | name |
| 156164298 | CV2135754 | single nucleotide variant | NM_001077525.3(MTMR14):c.1813C>T (p.Arg605Cys) | not provided [RCV002983124] | uncertain significance | 3 | 9701833 | 9701833 | Human | | name |
| 156262039 | CV2138703 | single nucleotide variant | NM_001077525.3(MTMR14):c.1219G>A (p.Ala407Thr) | not provided [RCV002988501]|not specified [RCV004065185] | uncertain significance | 3 | 9687875 | 9687875 | Human | | name |
| 155913632 | CV2153557 | single nucleotide variant | NM_001077525.3(MTMR14):c.1339T>C (p.Ser447Pro) | not provided [RCV003012437] | uncertain significance | 3 | 9688988 | 9688988 | Human | | name |
| 156178797 | CV2229420 | single nucleotide variant | NM_001077525.3(MTMR14):c.1316C>T (p.Thr439Ile) | not specified [RCV004101194] | uncertain significance | 3 | 9688965 | 9688965 | Human | | name |
| 156253062 | CV2325467 | single nucleotide variant | NM_001077525.3(MTMR14):c.1015C>G (p.Leu339Val) | not specified [RCV004179921] | uncertain significance | 3 | 9684635 | 9684635 | Human | | name |
| 155967495 | CV2391350 | single nucleotide variant | NM_001077525.3(MTMR14):c.1775C>T (p.Ala592Val) | not provided [RCV003699024]|not specified [RCV004239757] | uncertain significance | 3 | 9701795 | 9701795 | Human | | name |
| 11525661 | CV246958 | single nucleotide variant | NM_001077525.3(MTMR14):c.1151G>A (p.Ser384Asn) | not provided [RCV001854917]|not specified [RCV000238688] | likely benign|uncertain significance | 3 | 9685234 | 9685234 | Human | | name |
| 401734260 | CV2709426 | single nucleotide variant | NM_001077525.3(MTMR14):c.1832C>T (p.Ala611Val) | not specified [RCV004318680] | uncertain significance | 3 | 9701852 | 9701852 | Human | | name |
| 401931333 | CV2829353 | single nucleotide variant | NM_001077525.3(MTMR14):c.1888G>A (p.Gly630Arg) | Autosomal dominant centronuclear myopathy [RCV003441158]|not provided [RCV003553936] | uncertain significance | 3 | 9701908 | 9701908 | Human | 2 | name |
| 404980404 | CV2850497 | single nucleotide variant | NM_001077525.3(MTMR14):c.1789C>T (p.Arg597Ter) | not provided [RCV003488056] | uncertain significance | 3 | 9701809 | 9701809 | Human | | name |
| 404980408 | CV2850498 | single nucleotide variant | NM_001077525.3(MTMR14):c.1298G>T (p.Arg433Leu) | not provided [RCV003488057] | uncertain significance | 3 | 9688947 | 9688947 | Human | | name |
| 404980419 | CV2850500 | single nucleotide variant | NM_001077525.3(MTMR14):c.1882G>C (p.Ala628Pro) | not provided [RCV003488059] | uncertain significance | 3 | 9701902 | 9701902 | Human | | name |
| 404982587 | CV2850503 | single nucleotide variant | NM_001077525.3(MTMR14):c.1082C>T (p.Thr361Ile) | not provided [RCV003488062] | uncertain significance | 3 | 9684919 | 9684919 | Human | | name |
| 405215885 | CV2876218 | single nucleotide variant | NM_001077525.3(MTMR14):c.1370C>T (p.Thr457Ile) | not provided [RCV003553189] | uncertain significance | 3 | 9689019 | 9689019 | Human | | name |
| 405121418 | CV2952487 | single nucleotide variant | NM_001077525.3(MTMR14):c.1372G>A (p.Gly458Arg) | not provided [RCV003671513] | uncertain significance | 3 | 9689021 | 9689021 | Human | | name |
| 402503898 | CV3007247 | single nucleotide variant | NM_001077525.3(MTMR14):c.1322G>T (p.Ser441Ile) | not provided [RCV003688780] | uncertain significance | 3 | 9688971 | 9688971 | Human | | name |
| 405142431 | CV3055977 | single nucleotide variant | NM_001077525.3(MTMR14):c.1330A>G (p.Ser444Gly) | not provided [RCV003725768] | uncertain significance | 3 | 9688979 | 9688979 | Human | | name |
| 405196035 | CV3062909 | single nucleotide variant | NM_001077525.3(MTMR14):c.1361C>T (p.Pro454Leu) | not provided [RCV003730075]|not specified [RCV005240897] | uncertain significance | 3 | 9689010 | 9689010 | Human | | name |
| 405245891 | CV3075628 | single nucleotide variant | NM_001077525.3(MTMR14):c.1789C>G (p.Arg597Gly) | not provided [RCV003738587] | uncertain significance | 3 | 9701809 | 9701809 | Human | | name |
| 405029571 | CV3129913 | single nucleotide variant | NM_001077525.3(MTMR14):c.1426G>A (p.Ala476Thr) | not provided [RCV003830511] | uncertain significance | 3 | 9689075 | 9689075 | Human | | name |
| 405140303 | CV3131149 | single nucleotide variant | NM_001077525.3(MTMR14):c.1201A>G (p.Thr401Ala) | not provided [RCV003839189] | uncertain significance | 3 | 9687857 | 9687857 | Human | | name |
| 405072837 | CV3145459 | single nucleotide variant | NM_001077525.3(MTMR14):c.1382C>A (p.Thr461Asn) | not provided [RCV003851044] | uncertain significance | 3 | 9689031 | 9689031 | Human | | name |
| 407476111 | CV3447515 | single nucleotide variant | NM_001077525.3(MTMR14):c.1010C>G (p.Thr337Ser) | not specified [RCV004638507] | uncertain significance | 3 | 9684630 | 9684630 | Human | | name |
| 407573019 | CV3498796 | single nucleotide variant | NM_001077525.3(MTMR14):c.1454C>T (p.Ser485Phe) | not specified [RCV004699765] | likely benign | 3 | 9689984 | 9689984 | Human | | name |
| 408367392 | CV3512366 | single nucleotide variant | NM_001077525.3(MTMR14):c.1708G>C (p.Val570Leu) | MTMR14-related disorder [RCV004758470] | uncertain significance | 3 | 9697805 | 9697805 | Human | | name , trait , alternate_id |
| 597639194 | CV3564624 | single nucleotide variant | NM_001077525.3(MTMR14):c.1306C>T (p.Arg436Cys) | not specified [RCV004825069] | uncertain significance | 3 | 9688955 | 9688955 | Human | | name |
| 597649906 | CV3564625 | single nucleotide variant | NM_001077525.3(MTMR14):c.1399C>G (p.Leu467Val) | not specified [RCV004833550] | uncertain significance | 3 | 9689048 | 9689048 | Human | | name |
| 597649914 | CV3564626 | single nucleotide variant | NM_001077525.3(MTMR14):c.1132A>G (p.Met378Val) | not specified [RCV004833551] | uncertain significance | 3 | 9685215 | 9685215 | Human | | name |
| 597830235 | CV3742934 | single nucleotide variant | NM_001077525.3(MTMR14):c.1282A>G (p.Ile428Val) | not provided [RCV005061942] | uncertain significance | 3 | 9688742 | 9688742 | Human | | name |
| 597936190 | CV3759532 | single nucleotide variant | NM_001077525.3(MTMR14):c.1382C>T (p.Thr461Ile) | not provided [RCV005076652] | uncertain significance | 3 | 9689031 | 9689031 | Human | | name |
| 597856942 | CV3769422 | single nucleotide variant | NM_001077525.3(MTMR14):c.1255C>T (p.Arg419Trp) | not provided [RCV005105463] | uncertain significance | 3 | 9688715 | 9688715 | Human | | name |
| 597953286 | CV3795505 | single nucleotide variant | NM_001077525.3(MTMR14):c.1364G>C (p.Gly455Ala) | not provided [RCV005136515] | uncertain significance | 3 | 9689013 | 9689013 | Human | | name |
| 597928726 | CV3816061 | single nucleotide variant | NM_001077525.3(MTMR14):c.1196A>C (p.His399Pro) | not provided [RCV005156642] | uncertain significance | 3 | 9687852 | 9687852 | Human | | name |
| 597976250 | CV3829271 | single nucleotide variant | NM_001077525.3(MTMR14):c.1145G>A (p.Arg382Gln) | not provided [RCV005169720] | uncertain significance | 3 | 9685228 | 9685228 | Human | | name |
| 597939972 | CV3836506 | single nucleotide variant | NM_001077525.3(MTMR14):c.1298G>A (p.Arg433Gln) | not provided [RCV005187527] | uncertain significance | 3 | 9688947 | 9688947 | Human | | name |
| 597940649 | CV3836742 | single nucleotide variant | NM_001077525.3(MTMR14):c.1415C>T (p.Ala472Val) | not provided [RCV005187762] | uncertain significance | 3 | 9689064 | 9689064 | Human | | name |
| 597958795 | CV3848548 | single nucleotide variant | NM_001077525.3(MTMR14):c.1160A>C (p.Glu387Ala) | not provided [RCV005192249] | uncertain significance | 3 | 9685243 | 9685243 | Human | | name |
| 598208173 | CV4007639 | single nucleotide variant | NM_001077525.3(MTMR14):c.1591C>G (p.Pro531Ala) | Autosomal dominant centronuclear myopathy [RCV005399951] | uncertain significance | 3 | 9690121 | 9690121 | Human | 2 | name |
| 14394913 | CV610683 | single nucleotide variant | NM_001077525.3(MTMR14):c.1790G>A (p.Arg597Gln) | Autosomal dominant centronuclear myopathy [RCV000758236]|not provided [RCV001855907] | uncertain significance | 3 | 9701810 | 9701810 | Human | 2 | name |
| 21068435 | CV795486 | single nucleotide variant | NM_001077525.3(MTMR14):c.1144C>T (p.Arg382Trp) | Autosomal dominant centronuclear myopathy [RCV001169952]|not provided [RCV000997980] | likely benign|uncertain significance | 3 | 9685227 | 9685227 | Human | 2 | name |
| 38460419 | CV918863 | single nucleotide variant | NM_001077525.3(MTMR14):c.1174T>C (p.Phe392Leu) | Autosomal dominant centronuclear myopathy [RCV001196612] | uncertain significance | 3 | 9687830 | 9687830 | Human | 2 | name |
| 38460136 | CV918864 | single nucleotide variant | NM_001077525.3(MTMR14):c.1390G>A (p.Ala464Thr) | Autosomal dominant centronuclear myopathy [RCV001196107]|not provided [RCV001876272] | uncertain significance | 3 | 9689039 | 9689039 | Human | 2 | name |
| 155926639 | CV2041417 | deletion | NM_001077525.3(MTMR14):c.211_218del (p.Phe71fs) | not provided [RCV002750961] | uncertain significance | 3 | 9653670 | 9653677 | Human | | name |
| 156186345 | CV2055814 | microsatellite | NM_001077525.3(MTMR14):c.100GAG[1] (p.Glu35del) | not provided [RCV002828467] | uncertain significance | 3 | 9649682 | 9649684 | Human | | name |
| 151821999 | CV1355105 | microsatellite | NM_001077525.3(MTMR14):c.557GTG[1] (p.Gly187del) | not provided [RCV001934234] | uncertain significance | 3 | 9671050 | 9671052 | Human | | name |
| 597893121 | CV3833386 | deletion | NM_001077525.3(MTMR14):c.302_303del (p.Lys101fs) | not provided [RCV005180078] | uncertain significance | 3 | 9653762 | 9653763 | Human | | name |
| 402510469 | CV2938712 | deletion | NM_001077525.3(MTMR14):c.28_33del (p.Ala10_Ala11del) | not provided [RCV003662520] | uncertain significance | 3 | 9649608 | 9649613 | Human | | name |
| 404983431 | CV3121607 | deletion | NM_001077525.3(MTMR14):c.39_50del (p.Gly14_Ala17del) | not provided [RCV003826406] | uncertain significance | 3 | 9649615 | 9649626 | Human | | name |
| 404980387 | CV2850491 | duplication | NM_001077525.3(MTMR14):c.83_100dup (p.Leu33_Glu34insGlyLeuGlyGluLeuLeu) | not provided [RCV003488050] | uncertain significance | 3 | 9649660 | 9649661 | Human | | name |
