Position |
HGVS |
dbSNP id |
Phenotype List |
Distance |
Clinvar Significance |
19:46268077 |
GRCh37/hg19 19q13.32(chr19:46268077-46307777)x3 |
NA |
See cases | -5387 |
Uncertain significance |
19:46268428 |
NM_175875.5(SIX5):c.*331C>T |
NA |
not provided | -5036 |
Benign |
19:46268453 |
NM_175875.5(SIX5):c.*306G>A |
NA |
not provided | -5011 |
Benign |
19:46268598 |
NM_175875.5(SIX5):c.*161C>G |
NA |
not provided | -4866 |
Likely benign |
19:46268654 |
NM_175875.5(SIX5):c.*105C>T |
NA |
not provided | -4810 |
Likely benign |
19:46268714 |
NM_175875.5(SIX5):c.*45G>A |
NA |
not provided | -4750 |
Benign |
19:46268727 |
NM_175875.5(SIX5):c.*32T>C |
NA |
not provided | -4737 |
Likely benign |
19:46268764 |
NM_175875.5(SIX5):c.2215C>T (p.Leu739=) |
NA |
not provided | -4700 |
Likely benign |
19:46268790 |
NM_175875.5(SIX5):c.2189C>T (p.Ser730Leu) |
NA |
not provided | -4674 |
Conflicting interpretations of pathogenicity |
19:46268806 |
NM_175875.5(SIX5):c.2173C>T (p.Leu725=) |
rs112320524 |
not provided | -4658 |
Benign/Likely benign |
19:46268818 |
NM_175875.5(SIX5):c.2161G>A (p.Glu721Lys) |
NA |
not provided | -4646 |
Uncertain significance |
19:46268902 |
NM_175875.5(SIX5):c.2077G>A (p.Val693Met) |
rs2341097 |
not specified|Branchiootorenal syndrome 2|not provided | -4562 |
Benign |
19:46268927 |
NM_175875.5(SIX5):c.2052G>C (p.Gly684=) |
NA |
not provided | -4537 |
Likely benign |
19:46269000 |
NM_175875.5(SIX5):c.1979C>A (p.Ala660Glu) |
NA |
not provided | -4464 |
Likely benign |
19:46269001 |
NM_175875.5(SIX5):c.1978G>A (p.Ala660Thr) |
NA |
not provided | -4463 |
Benign |
19:46269016 |
NM_175875.5(SIX5):c.1963C>T (p.Leu655=) |
rs151072042 |
not provided|not specified | -4448 |
Benign |
19:46269035 |
NM_175875.5(SIX5):c.1944G>A (p.Pro648=) |
NA |
not provided | -4429 |
Likely benign |
19:46269036 |
NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu) |
rs140816771 |
not provided | -4428 |
Conflicting interpretations of pathogenicity |
19:46269043 |
NM_175875.5(SIX5):c.1915_1935dup (p.Asp639_Pro645dup) |
NA |
not provided | -4421 |
Uncertain significance |
19:46269076 |
NM_175875.5(SIX5):c.1903C>T (p.Pro635Ser) |
rs2014576 |
not specified|Branchiootorenal syndrome 2|not provided | -4388 |
Benign |
19:46269092 |
NM_175875.5(SIX5):c.1887C>G (p.Thr629=) |
NA |
not provided | -4372 |
Likely benign |
19:46269103 |
NM_175875.5(SIX5):c.1876G>A (p.Ala626Thr) |
NA |
not provided | -4361 |
Uncertain significance |
19:46269106 |
NM_175875.5(SIX5):c.1873G>A (p.Ala625Thr) |
rs202187498 |
not provided | -4358 |
Likely benign |
19:46269107 |
NM_175875.5(SIX5):c.1872C>T (p.Pro624=) |
rs373614429 |
not provided | -4357 |
Conflicting interpretations of pathogenicity |
19:46269107 |
NM_175875.5(SIX5):c.1871_1872del (p.Pro624fs) |
rs1600396929 |
not provided | -4357 |
Uncertain significance |
19:46269127 |
NM_175875.5(SIX5):c.1852T>C (p.Ser618Pro) |
rs1600396951 |
not provided | -4337 |
Uncertain significance |
19:46269141 |
NM_175875.5(SIX5):c.1838C>G (p.Ala613Gly) |
NA |
not provided | -4323 |
Uncertain significance |
19:46269177 |
NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu) |
rs768981892 |
Branchiootorenal syndrome 2 | -4287 |
Uncertain significance |
19:46269190 |
NM_175875.5(SIX5):c.1789G>T (p.Glu597Ter) |
rs1555785101 |
not provided | -4274 |
Uncertain significance |
19:46269196 |
NM_175875.5(SIX5):c.1783G>A (p.Val595Met) |
rs114060947 |
not specified|not provided | -4268 |
Benign |
19:46269206 |
NM_175875.5(SIX5):c.1773G>T (p.Thr591=) |
NA |
not provided | -4258 |
Benign |
19:46269292 |
NM_175875.5(SIX5):c.1687C>T (p.Leu563Phe) |
rs781343581 |
not provided | -4172 |
Uncertain significance |
19:46269313 |
NM_175875.5(SIX5):c.1666= (p.Leu556=) |
NA |
not provided | -4151 |
Benign |
19:46269313 |
NM_175875.5(SIX5):c.1666C>A (p.Leu556Met) |
NA |
not provided | -4151 |
Likely benign |
19:46269313 |
NM_175875.5(SIX5):c.1666C>G (p.Leu556Val) |
NA |
Branchiootorenal syndrome 2|not provided | -4151 |
Benign |
19:46269313 |
NM_175875.5(SIX5):c.1665_1666delinsTG (p.Leu556Val) |
NA |
not provided | -4151 |
Likely benign |
19:46269323 |
NM_175875.5(SIX5):c.1656G>A (p.Thr552=) |
rs149475634 |
not provided | -4141 |
Likely benign |
19:46269324 |
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) |
rs80356464 |
Branchiootorenal syndrome 2|not provided | -4140 |
Uncertain significance |
19:46269324 |
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) |
rs80356464 |
Branchiootorenal syndrome 2|not provided | -4140 |
Uncertain significance |
19:46269328 |
NM_175875.5(SIX5):c.1651G>A (p.Val551Met) |
NA |
not provided | -4136 |
Benign |
19:46269329 |
NM_175875.5(SIX5):c.1650C>T (p.Ile550=) |
NA |
not provided | -4135 |
Likely benign |
19:46269350 |
NM_175875.5(SIX5):c.1629C>T (p.Asn543=) |
NA |
not provided | -4114 |
Likely benign |
19:46269545 |
NM_175875.5(SIX5):c.1609+63G>C |
NA |
not provided | -3919 |
Benign |
19:46269566 |
NM_175875.5(SIX5):c.1609+42G>A |
NA |
not provided | -3898 |
Likely benign |
19:46269578 |
NM_175875.5(SIX5):c.1609+30G>A |
NA |
not provided | -3886 |
Benign |
19:46269594 |
NM_175875.5(SIX5):c.1609+14C>T |
NA |
not provided | -3870 |
Benign |
19:46269629 |
NM_175875.5(SIX5):c.1588C>G (p.Leu530Val) |
rs1555785172 |
not provided | -3835 |
Uncertain significance |
19:46269635 |
NM_175875.5(SIX5):c.1582C>G (p.Leu528Val) |
rs780053382 |
not provided | -3829 |
Likely benign |
19:46269644 |
NM_175875.5(SIX5):c.1573G>A (p.Val525Met) |
NA |
not provided | -3820 |
Uncertain significance |
19:46269680 |
NM_175875.5(SIX5):c.1537C>T (p.Pro513Ser) |
NA |
not provided | -3784 |
Uncertain significance |
19:46269681 |
NM_175875.5(SIX5):c.1536C>T (p.Gly512=) |
rs199763441 |
not provided | -3783 |
Benign |
19:46269719 |
NM_175875.5(SIX5):c.1498G>A (p.Gly500Arg) |
NA |
not provided | -3745 |
Likely benign |
19:46269720 |
NM_175875.5(SIX5):c.1497C>T (p.Ala499=) |
NA |
not provided | -3744 |
Likely benign |
19:46269733 |
NM_175875.5(SIX5):c.1484A>T (p.Gln495Leu) |
NA |
not provided | -3731 |
Uncertain significance |
19:46269753 |
NM_175875.5(SIX5):c.1464C>G (p.Pro488=) |
rs753759460 |
not provided | -3711 |
not provided |
19:46269755 |
NM_175875.5(SIX5):c.1462C>T (p.Pro488Ser) |
rs200487992 |
not specified | -3709 |
Likely benign |
19:46269768 |
NM_175875.5(SIX5):c.1449G>C (p.Gln483His) |
NA |
not provided | -3696 |
Likely benign |
19:46269782 |
NM_175875.5(SIX5):c.1435G>C (p.Val479Leu) |
NA |
not provided | -3682 |
Uncertain significance |
19:46269825 |
NM_175875.5(SIX5):c.1392G>A (p.Thr464=) |
rs962337294 |
not specified | -3639 |
Likely benign |
19:46269827 |
NM_175875.5(SIX5):c.1390A>T (p.Thr464Ser) |
NA |
not provided | -3637 |
Uncertain significance |
19:46269837 |
NM_175875.5(SIX5):c.1380G>A (p.Pro460=) |
NA |
not provided | -3627 |
Likely benign |
19:46269849 |
NM_175875.5(SIX5):c.1368C>T (p.Leu456=) |
rs982154839 |
not provided | -3615 |
Likely benign |
19:46269851 |
NM_175875.5(SIX5):c.1366C>T (p.Leu456Phe) |
rs569540038 |
not provided | -3613 |
Conflicting interpretations of pathogenicity |
19:46269877 |
NM_175875.5(SIX5):c.1332_1340del (p.Pro446_Val448del) |
rs765235582 |
not provided | -3587 |
Uncertain significance |
19:46269930 |
NM_175875.5(SIX5):c.1287G>T (p.Val429=) |
rs746615895 |
not provided | -3534 |
Likely benign |
19:46269949 |
NM_175875.5(SIX5):c.1268G>A (p.Gly423Glu) |
NA |
not provided | -3515 |
Uncertain significance |
19:46269950 |
NM_175875.5(SIX5):c.1267G>C (p.Gly423Arg) |
NA |
not provided | -3514 |
Uncertain significance |
19:46269953 |
NM_175875.5(SIX5):c.1264C>T (p.Leu422=) |
rs193244455 |
not provided | -3511 |
Likely benign |
19:46269954 |
NM_175875.5(SIX5):c.1263C>T (p.Val421=) |
NA |
not provided | -3510 |
Likely benign |
19:46269956 |
NM_175875.5(SIX5):c.1261G>A (p.Val421Ile) |
rs1057519372 |
Branchiootorenal syndrome 2 | -3508 |
Uncertain significance |
19:46269956 |
NM_175875.5(SIX5):c.1261G>A (p.Val421Ile) |
rs1057519372 |
Branchiootorenal syndrome 2 | -3508 |
Uncertain significance |
19:46270030 |
NM_175875.5(SIX5):c.1187A>C (p.Glu396Ala) |
NA |
not provided | -3434 |
Uncertain significance |
19:46270083 |
NM_175875.5(SIX5):c.1134C>T (p.Ser378=) |
NA |
not provided | -3381 |
Uncertain significance |
19:46270124 |
NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg) |
rs80356463 |
Branchiootorenal syndrome 2 | -3340 |
Pathogenic |
19:46270124 |
NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg) |
rs80356463 |
Branchiootorenal syndrome 2 | -3340 |
Pathogenic |
19:46270126 |
NM_175875.5(SIX5):c.1091G>T (p.Gly364Val) |
NA |
not provided | -3338 |
Likely benign |
19:46270175 |
NM_175875.5(SIX5):c.1042C>T (p.Leu348=) |
rs779368770 |
not provided | -3289 |
Benign/Likely benign |
19:46270182 |
NM_175875.5(SIX5):c.1035C>T (p.Ile345=) |
NA |
not provided | -3282 |
Likely benign |
19:46270194 |
NM_175875.5(SIX5):c.1023C>T (p.Gly341=) |
rs780345670 |
not provided | -3270 |
Likely benign |
19:46270203 |
NM_175875.5(SIX5):c.1014C>A (p.Leu338=) |
rs200011109 |
not provided | -3261 |
Likely benign |
19:46270224 |
NM_175875.5(SIX5):c.993C>T (p.Ser331=) |
NA |
not provided | -3240 |
Likely benign |
19:46270272 |
NM_175875.5(SIX5):c.945C>G (p.Cys315Trp) |
NA |
not provided | -3192 |
Uncertain significance |
19:46270281 |
NM_175875.5(SIX5):c.936C>T (p.Pro312=) |
rs374751577 |
not provided | -3183 |
Likely benign |
19:46270302 |
NM_175875.5(SIX5):c.915C>T (p.Phe305=) |
rs370303254 |
not provided | -3162 |
Likely benign |
19:46270304 |
NM_175875.5(SIX5):c.913T>G (p.Phe305Val) |
NA |
not provided | -3160 |
Uncertain significance |
19:46270323 |
NM_175875.5(SIX5):c.894C>T (p.Ala298=) |
rs1405821307 |
not provided | -3141 |
Likely benign |
19:46270331 |
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr) |
rs80356462 |
Branchiootorenal syndrome 2|not provided | -3133 |
Likely benign |
19:46270331 |
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr) |
rs80356462 |
Branchiootorenal syndrome 2|not provided | -3133 |
Likely benign |
19:46270338 |
NM_175875.5(SIX5):c.879A>G (p.Pro293=) |
rs907867982 |
not provided | -3126 |
Likely benign |
19:46270362 |
NM_175875.5(SIX5):c.855G>A (p.Glu285=) |
rs764868951 |
not provided | -3102 |
Likely benign |
19:46270406 |
NM_175875.5(SIX5):c.811G>A (p.Asp271Asn) |
rs148645884 |
not provided | -3058 |
Likely benign |
19:46270640 |
NM_175875.5(SIX5):c.804-227G>A |
NA |
not provided | -2824 |
Benign |
19:46271177 |
NM_175875.5(SIX5):c.803+123C>A |
NA |
not provided | -2287 |
Benign |
19:46271311 |
NM_175875.5(SIX5):c.792G>T (p.Ala264=) |
NA |
not provided | -2153 |
Likely benign |
19:46271371 |
NM_175875.5(SIX5):c.732G>A (p.Gln244=) |
rs141944211 |
not specified|not provided | -2093 |
Benign |
19:46271383 |
NM_175875.5(SIX5):c.720G>A (p.Leu240=) |
rs765433985 |
not provided | -2081 |
Likely benign |
19:46271389 |
NM_175875.5(SIX5):c.714C>G (p.Thr238=) |
rs758444909 |
not provided | -2075 |
Uncertain significance |
19:46271467 |
NM_175875.5(SIX5):c.636C>T (p.Ser212=) |
NA |
not provided | -1997 |
Likely benign |
19:46271479 |
NM_175875.5(SIX5):c.624C>T (p.Phe208=) |
rs140161317 |
not provided | -1985 |
Likely benign |
19:46271486 |
NM_175875.5(SIX5):c.617A>G (p.Tyr206Cys) |
rs864309631 |
not specified | -1978 |
Uncertain significance |
19:46271486 |
NM_175875.5(SIX5):c.617A>G (p.Tyr206Cys) |
rs864309631 |
not specified | -1978 |
Uncertain significance |
19:46271500 |
NM_175875.5(SIX5):c.603C>T (p.Gly201=) |
NA |
not provided | -1964 |
Likely benign |
19:46271503 |
NM_175875.5(SIX5):c.600C>T (p.Asp200=) |
NA |
not provided | -1961 |
Likely benign |
19:46271527 |
NM_175875.5(SIX5):c.576C>T (p.Phe192=) |
rs368106223 |
not provided | -1937 |
Likely benign |
19:46271554 |
NM_175875.5(SIX5):c.549G>A (p.Val183=) |
rs143904307 |
not specified | -1910 |
Likely benign |
19:46271560 |
NM_175875.5(SIX5):c.543C>A (p.Gly181=) |
NA |
not provided | -1904 |
Likely benign |
19:46271610 |
NM_175875.5(SIX5):c.493C>T (p.Leu165=) |
rs368485758 |
not provided|not specified | -1854 |
Benign/Likely benign |
19:46271611 |
NM_175875.5(SIX5):c.492C>T (p.Tyr164=) |
NA |
not provided | -1853 |
Likely benign |
19:46271631 |
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr) |
rs80356461 |
Branchiootorenal syndrome 2|not provided | -1833 |
Uncertain significance |
19:46271631 |
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr) |
rs80356461 |
Branchiootorenal syndrome 2|not provided | -1833 |
Uncertain significance |
19:46271667 |
NM_175875.5(SIX5):c.436C>T (p.Leu146=) |
NA |
not provided | -1797 |
Likely benign |
19:46271680 |
NM_175875.5(SIX5):c.423C>G (p.Ala141=) |
NA |
not provided | -1784 |
Likely benign |
19:46271683 |
NM_175875.5(SIX5):c.420C>T (p.Tyr140=) |
NA |
not provided | -1781 |
Likely benign |
19:46271689 |
NM_175875.5(SIX5):c.414C>T (p.Gly138=) |
NA |
not provided | -1775 |
Uncertain significance |
19:46271712 |
NM_175875.5(SIX5):c.391G>C (p.Ala131Pro) |
rs1568565921 |
not provided | -1752 |
Uncertain significance |
19:46271728 |
NM_175875.5(SIX5):c.375G>C (p.Pro125=) |
rs147268086 |
not provided | -1736 |
Benign |
19:46271734 |
NM_175875.5(SIX5):c.369C>T (p.Ser123=) |
rs1435379917 |
not provided | -1730 |
Uncertain significance |
19:46271845 |
NM_175875.5(SIX5):c.258C>G (p.Phe86Leu) |
NA |
not provided | -1619 |
Uncertain significance |
19:46271865 |
NM_175875.5(SIX5):c.238C>T (p.Pro80Ser) |
NA |
not provided | -1599 |
Likely benign |
19:46271870 |
NM_175875.5(SIX5):c.233C>T (p.Ser78Phe) |
NA |
not provided | -1594 |
Likely benign |
19:46271890 |
NM_175875.5(SIX5):c.213G>T (p.Gly71=) |
rs570333735 |
not specified|not provided | -1574 |
Benign |
19:46271912 |
NM_175875.5(SIX5):c.191C>T (p.Pro64Leu) |
NA |
not provided | -1552 |
Likely benign |
19:46271941 |
NM_175875.5(SIX5):c.150CGGGGC[3] (p.51GA[4]) |
rs563227896 |
not provided|not specified | -1523 |
Benign |
19:46271992 |
NM_175875.5(SIX5):c.111G>A (p.Gln37=) |
NA |
not provided | -1472 |
Likely benign |
19:46271995 |
NM_175875.5(SIX5):c.108G>A (p.Leu36=) |
NA |
not provided | -1469 |
Likely benign |
19:46272004 |
NM_175875.5(SIX5):c.99C>T (p.Arg33=) |
rs1331402977 |
not provided | -1460 |
Likely benign |
19:46272025 |
NM_175875.5(SIX5):c.78A>G (p.Glu26=) |
NA |
not provided | -1439 |
Likely benign |
19:46272047 |
NM_175875.5(SIX5):c.56T>C (p.Val19Ala) |
NA |
not provided | -1417 |
Uncertain significance |
19:46272060 |
NM_175875.5(SIX5):c.43G>C (p.Gly15Arg) |
rs1020167733 |
not provided | -1404 |
Uncertain significance |
19:46272075 |
NM_175875.5(SIX5):c.28G>A (p.Ala10Thr) |
rs1600401760 |
not provided | -1389 |
Likely benign |
19:46272088 |
NM_175875.5(SIX5):c.15T>G (p.Pro5=) |
NA |
not provided | -1376 |
Likely benign |
19:46272128 |
NM_175875.5(SIX5):c.-26G>T |
rs752241124 |
not specified | -1336 |
Likely benign |
19:46272137 |
NM_175875.5(SIX5):c.-35G>C |
rs924775608 |
not provided | -1327 |
Likely benign |
19:46272145 |
NM_175875.5(SIX5):c.-43G>A |
NA |
not provided | -1319 |
Benign |
19:46272147 |
NM_175875.5(SIX5):c.-45G>A |
rs568324148 |
not specified | -1317 |
Likely benign |
19:46272161 |
NM_175875.5(SIX5):c.-59G>A |
NA |
not provided | -1303 |
Benign |
19:46272177 |
NM_175875.5(SIX5):c.-76dup |
NA |
not provided | -1287 |
Benign |
19:46272244 |
NM_175875.5(SIX5):c.-142G>T |
NA |
not provided | -1220 |
Likely benign |
19:46272250 |
NM_175875.5(SIX5):c.-148C>T |
NA |
not provided | -1214 |
Benign |
19:46272265 |
NM_175875.5(SIX5):c.-163A>G |
NA |
not provided | -1199 |
Likely benign |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[562] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[563] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[56] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[583] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[586] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[593] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[594] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[59] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[609] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[60] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[614] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[62] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[64] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[640] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[65] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[666] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[688] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[68] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[69] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[71] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[721] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[72] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[74] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[758] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[75] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[76] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[780] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[80] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[814] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[816] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[823] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[82] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[83] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[84] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[88] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[887] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[96] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[92] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[93] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[98] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[102] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[103] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[107] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[1080] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[1140] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[1142] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[1189] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[122] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[1236] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[123] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[124] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[127] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[131] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[132] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[134] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[135] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[142] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.4(DMPK):c.*224CTG[146] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[158] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[160] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[168] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[169] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[175] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[181] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[182] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[194] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[195] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[197] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[214] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[216] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[225] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[229] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[232] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[235] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[236] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[238] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[255] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[241] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[260] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[256] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[261] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[264] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[307] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[265] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[271] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[313] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[281] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[303] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[318] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[327] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[333] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[339] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[345] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[347] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[351] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[353] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[352] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[364] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[354] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[371] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[372] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[373] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[375] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[376] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[377] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[391] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[395] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[397] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[398] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[407] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[421] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[435] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[436] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[437] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[440] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[448] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[449] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[455] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[461] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[462] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[46] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[482] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[490] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[501] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[505] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[508] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[50] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[513] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[52] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[536] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[539] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[53] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[541] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[542] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[54] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[102] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[103] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[107] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[1080] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[1140] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[1189] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[1142] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[1236] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[122] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[123] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[124] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[127] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[131] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[134] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[132] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[135] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[142] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.4(DMPK):c.*224CTG[146] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[158] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[160] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[168] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[169] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[175] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[181] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[182] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[194] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[195] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[197] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[214] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[216] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[225] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[229] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[232] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[235] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[236] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[238] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[241] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[255] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[256] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[260] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[261] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[264] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[265] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[271] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[281] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[303] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[307] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[313] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[318] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[327] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[333] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[339] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[345] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[347] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[351] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[352] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[353] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[354] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[364] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[371] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[372] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[373] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[375] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[377] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[376] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[391] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[395] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[397] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[398] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[407] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[421] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[435] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[436] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[440] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[437] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[448] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[449] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[455] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[46] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[462] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[482] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[490] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[461] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[505] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[501] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[50] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[513] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[508] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[52] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[539] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[536] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[53] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[541] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[542] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[562] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[54] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[563] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[583] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[586] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[56] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[594] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[59] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[593] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[60] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[614] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[62] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[609] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[640] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[64] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[666] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[688] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[65] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[68] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[69] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[71] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[721] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[72] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[758] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[74] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[75] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[76] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[780] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[80] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[814] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[816] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[823] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[82] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[83] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[84] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[887] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[88] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[92] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[93] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[96] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[98] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[105] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[288] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[383] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[597] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[496] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[90] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[110] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[21] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Benign |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[22] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Benign |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[23] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Benign |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[28] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Benign |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[43] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[117] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[32] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Conflicting interpretations of pathogenicity |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[25] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Benign |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[41] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[44] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[45] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[47] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[49] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[51] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[55] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[57] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[58] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[61] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[73] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[86] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[100] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[230] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[24] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Benign |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[30] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Benign |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[42] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[180] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[330] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[27] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Benign |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[29] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Benign |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[31] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[33] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[34] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[35] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[36] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[37] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[38] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[39] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[40] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[130] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273462 |
NM_004409.5(DMPK):c.*224CTG[280] |
NA |
Steinert myotonic dystrophy syndrome | -2 |
Pathogenic |
19:46273463 |
NM_001081560.3(DMPK):c.*224CTG[51_?] |
NA |
Steinert myotonic dystrophy syndrome | -1 |
Pathogenic |
19:46273463 |
NM_004409.4(DMPK):c.*224CTG[1502] |
NA |
Steinert myotonic dystrophy syndrome | -1 |
Pathogenic |
19:46273463 |
NM_004409.4(DMPK):c.*224CTG[1681] |
NA |
Steinert myotonic dystrophy syndrome | -1 |
Pathogenic |
19:46273463 |
NM_001081560.3(DMPK):c.*224CTG[51_?] |
NA |
Steinert myotonic dystrophy syndrome | -1 |
Pathogenic |
19:46273463 |
NM_004409.4(DMPK):c.*224CTG[1502] |
NA |
Steinert myotonic dystrophy syndrome | -1 |
Pathogenic |
19:46273463 |
NM_004409.4(DMPK):c.*224CTG[1681] |
NA |
Steinert myotonic dystrophy syndrome | -1 |
Pathogenic |
19:46273463 |
NM_004409.5(DMPK):c.*224_*283= |
NA |
Steinert myotonic dystrophy syndrome | -1 |
Benign |
19:46273463 |
NM_004409.5(DMPK):c.*224CTG[1] |
NA |
Steinert myotonic dystrophy syndrome | -1 |
Benign |
19:46273463 |
NM_004409.5(DMPK):c.*224CTG[17] |
NA |
Steinert myotonic dystrophy syndrome | -1 |
Benign |
19:46273463 |
NM_004409.5(DMPK):c.*224CTG[19] |
NA |
Steinert myotonic dystrophy syndrome | -1 |
Benign |
19:46273465 |
NC_000019.9:g.46273465GCA[(49_?)] |
NA |
Steinert myotonic dystrophy syndrome | 1 |
Pathogenic |
19:46273465 |
NC_000019.9:g.46273465GCA[(?_35)] |
NA |
Steinert myotonic dystrophy syndrome | 1 |
Benign |
19:46273520 |
NM_004409.4(DMPK):c.*224CTG[(35_49)] |
NA |
Steinert myotonic dystrophy syndrome | 56 |
other |
19:46273520 |
NM_004409.4(DMPK):c.*224CTG[(35_49)] |
NA |
Steinert myotonic dystrophy syndrome | 56 |
other |
19:46273799 |
NM_004409.5(DMPK):c.1837G>T (p.Ala613Ser) |
rs1003871860 |
Steinert myotonic dystrophy syndrome | 335 |
Likely benign |
19:46273847 |
NM_004409.5(DMPK):c.1789G>A (p.Val597Ile) |
rs1310210930 |
Steinert myotonic dystrophy syndrome | 383 |
Uncertain significance |
19:46274269 |
NM_004409.5(DMPK):c.1697C>T (p.Pro566Leu) |
rs536277584 |
Myotonic dystrophy | 805 |
Uncertain significance |
19:46275054 |
NM_004409.5(DMPK):c.1477C>T (p.Arg493Cys) |
rs78771765 |
Myotonic dystrophy|not provided | 1590 |
Likely benign |
19:46275919 |
NM_004409.5(DMPK):c.1324G>A (p.Val442Met) |
rs780659624 |
Steinert myotonic dystrophy syndrome | 2455 |
Uncertain significance |
19:46275976 |
NM_004409.5(DMPK):c.1267C>G (p.Leu423Val) |
rs527221 |
not specified | 2512 |
Benign |
19:46275976 |
NM_004409.5(DMPK):c.1267C>G (p.Leu423Val) |
rs527221 |
not specified | 2512 |
Benign |
19:46280800 |
NM_004409.5(DMPK):c.931C>T (p.Arg311Ter) |
rs762280354 |
Steinert myotonic dystrophy syndrome | 7336 |
Uncertain significance |
19:46280917 |
NM_004409.5(DMPK):c.882+8C>T |
rs141629958 |
not provided|not specified | 7453 |
Likely benign |
19:46281386 |
NM_004409.5(DMPK):c.674C>T (p.Thr225Met) |
rs61747614 |
not specified | 7922 |
Likely benign |
19:46281386 |
NM_004409.5(DMPK):c.674C>T (p.Thr225Met) |
rs61747614 |
not specified | 7922 |
Likely benign |
19:46281417 |
NM_004409.5(DMPK):c.643G>A (p.Gly215Ser) |
rs747348407 |
Myotonic dystrophy | 7953 |
Uncertain significance |
19:46281484 |
NM_004409.5(DMPK):c.582-6G>C |
rs766818029 |
Catecholaminergic polymorphic ventricular tachycardia 1 | 8020 |
Uncertain significance |
19:46281484 |
NM_004409.5(DMPK):c.582-6G>C |
rs766818029 |
Catecholaminergic polymorphic ventricular tachycardia 1 | 8020 |
Uncertain significance |
19:46281745 |
NM_004409.5(DMPK):c.581+6T>C |
rs1799894 |
not specified|Steinert myotonic dystrophy syndrome | 8281 |
Benign |
19:46281745 |
NM_004409.5(DMPK):c.581+6T>C |
rs1799894 |
not specified|Steinert myotonic dystrophy syndrome | 8281 |
Benign |
19:46281828 |
NM_004409.5(DMPK):c.504G>A (p.Pro168=) |
rs34510782 |
not specified | 8364 |
Likely benign |
19:46281828 |
NM_004409.5(DMPK):c.504G>A (p.Pro168=) |
rs34510782 |
not specified | 8364 |
Likely benign |
19:46281876 |
NM_004409.5(DMPK):c.456G>A (p.Val152=) |
rs34798952 |
not specified | 8412 |
Likely benign |
19:46281876 |
NM_004409.5(DMPK):c.456G>A (p.Val152=) |
rs34798952 |
not specified | 8412 |
Likely benign |
19:46282559 |
NM_004409.5(DMPK):c.395C>G (p.Thr132Arg) |
rs1600444823 |
Steinert myotonic dystrophy syndrome | 9095 |
Uncertain significance |
19:46283127 |
NM_004409.5(DMPK):c.161C>G (p.Ala54Gly) |
NA |
not provided | 9663 |
Uncertain significance |
19:46283129 |
NM_004409.5(DMPK):c.161-9dup |
NA |
not provided | 9665 |
Uncertain significance |
19:46283184 |
NM_004409.5(DMPK):c.161-62dup |
rs751073998 |
not specified | 9720 |
Uncertain significance |
19:46283316 |
NM_004409.5(DMPK):c.161-189T>C |
rs752437441 |
Noonan syndrome | 9852 |
Uncertain significance |
19:46283316 |
NM_004409.5(DMPK):c.161-189T>C |
rs752437441 |
Noonan syndrome | 9852 |
Uncertain significance |
19:46283586 |
NM_004409.5(DMPK):c.161-459C>T |
NA |
not provided | 10122 |
Likely benign |
19:46299178 |
NM_030785.4(RSPH6A):c.2103G>A (p.Glu701=) |
rs61730714 |
not provided | 25714 |
Likely benign |