| 12837121 | CV374197 | single nucleotide variant | NM_004517.4(ILK):c.*2A>G | not specified [RCV000424618] | likely benign | 11 | 6610613 | 6610613 | Human | | name |
| 127299843 | CV1156794 | variation | NM_004517.4(ILK):c.448+9= | Primary familial hypertrophic cardiomyopathy [RCV001513850]|not provided [RCV001529746]|not specified [RCV001727861] | benign|likely benign | 11 | 6608799 | 6608802 | Human | | name |
| 150532453 | CV1309202 | single nucleotide variant | NM_004517.4(ILK):c.*61C>T | not provided [RCV001752883] | likely benign | 11 | 6610672 | 6610672 | Human | | name |
| 13537983 | CV504301 | single nucleotide variant | NM_004517.4(ILK):c.-16G>A | not specified [RCV000611177] | likely benign | 11 | 6604256 | 6604256 | Human | | name |
| 126920882 | CV1047390 | single nucleotide variant | NM_004517.4(ILK):c.89+6C>T | Primary familial hypertrophic cardiomyopathy [RCV001363143] | uncertain significance | 11 | 6604366 | 6604366 | Human | 1 | name |
| 8691332 | CV141292 | single nucleotide variant | NM_004517.4(ILK):c.-108T>C | not specified [RCV000125416] | benign | 11 | 6603807 | 6603807 | Human | | name |
| 402468796 | CV3027847 | single nucleotide variant | NM_004517.4(ILK):c.89+8G>T | Primary familial hypertrophic cardiomyopathy [RCV003623535] | likely benign | 11 | 6604368 | 6604368 | Human | 1 | name |
| 12843166 | CV371588 | single nucleotide variant | NM_004517.4(ILK):c.-113G>T | not specified [RCV000435740] | likely benign | 11 | 6603802 | 6603802 | Human | | name |
| 12843177 | CV371590 | single nucleotide variant | NM_004517.4(ILK):c.-105A>G | not specified [RCV000435756] | likely benign | 11 | 6603810 | 6603810 | Human | | name |
| 12838942 | CV372281 | single nucleotide variant | NM_004517.4(ILK):c.-109C>T | not specified [RCV000427901] | likely benign | 11 | 6603806 | 6603806 | Human | | name |
| 12840000 | CV372507 | single nucleotide variant | NM_004517.4(ILK):c.89+3G>A | not provided [RCV000429863] | likely benign | 11 | 6604363 | 6604363 | Human | | name |
| 14719245 | CV656073 | single nucleotide variant | NM_004517.4(ILK):c.-129G>T | not provided [RCV000830691] | benign | 11 | 6603786 | 6603786 | Human | | name |
| 15146825 | CV690008 | single nucleotide variant | NM_004517.4(ILK):c.90-5C>T | Primary familial hypertrophic cardiomyopathy [RCV001504053] | likely benign | 11 | 6608041 | 6608041 | Human | 1 | name |
| 126747541 | CV1030405 | single nucleotide variant | NM_004517.4(ILK):c.256-7G>A | Primary familial hypertrophic cardiomyopathy [RCV001337486] | uncertain significance | 11 | 6608387 | 6608387 | Human | 1 | name |
| 150535066 | CV1306800 | single nucleotide variant | NM_004517.4(ILK):c.352-4C>G | not provided [RCV001757798] | likely benign | 11 | 6608690 | 6608690 | Human | | name |
| 151804606 | CV1485607 | single nucleotide variant | NM_004517.4(ILK):c.856+1G>A | Primary familial hypertrophic cardiomyopathy [RCV002048291] | uncertain significance | 11 | 6609640 | 6609640 | Human | 1 | name |
| 151770244 | CV1502430 | single nucleotide variant | NM_004517.4(ILK):c.856+3G>A | Primary familial hypertrophic cardiomyopathy [RCV001896267] | uncertain significance | 11 | 6609642 | 6609642 | Human | 1 | name |
| 152051207 | CV1523421 | single nucleotide variant | NM_004517.4(ILK):c.90-17T>C | Primary familial hypertrophic cardiomyopathy [RCV002127274] | benign | 11 | 6608029 | 6608029 | Human | 1 | name |
| 152170031 | CV1610680 | single nucleotide variant | NM_004517.4(ILK):c.619-9G>A | Primary familial hypertrophic cardiomyopathy [RCV002142987] | likely benign | 11 | 6609290 | 6609290 | Human | 1 | name |
| 152064525 | CV1654278 | single nucleotide variant | NM_004517.4(ILK):c.352-8C>T | Primary familial hypertrophic cardiomyopathy [RCV002190965] | likely benign | 11 | 6608686 | 6608686 | Human | 1 | name |
| 152047822 | CV1656791 | single nucleotide variant | NM_004517.4(ILK):c.89+13G>A | Primary familial hypertrophic cardiomyopathy [RCV002189032] | likely benign | 11 | 6604373 | 6604373 | Human | 1 | name |
| 156366601 | CV1906496 | single nucleotide variant | NM_004517.4(ILK):c.618+5C>G | Primary familial hypertrophic cardiomyopathy [RCV003092105] | uncertain significance | 11 | 6609161 | 6609161 | Human | 1 | name |
| 156306918 | CV2079851 | single nucleotide variant | NM_004517.4(ILK):c.449-3T>C | Primary familial hypertrophic cardiomyopathy [RCV002857452] | uncertain significance | 11 | 6608881 | 6608881 | Human | 1 | name |
| 11347826 | CV241205 | single nucleotide variant | NM_004517.4(ILK):c.619-6C>T | Primary familial hypertrophic cardiomyopathy [RCV000233448]|not provided [RCV001092690]|not specified [RCV004020814] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 6609293 | 6609293 | Human | 1 | name |
| 402523480 | CV2870084 | single nucleotide variant | NM_004517.4(ILK):c.729-3T>C | Primary familial hypertrophic cardiomyopathy [RCV003511022] | uncertain significance | 11 | 6609509 | 6609509 | Human | 1 | name |
| 402465270 | CV2965604 | duplication | NM_004517.4(ILK):c.448+4dup | Primary familial hypertrophic cardiomyopathy [RCV003622614] | uncertain significance | 11 | 6608792 | 6608793 | Human | 1 | name |
| 405235935 | CV3168942 | single nucleotide variant | NM_004517.4(ILK):c.978+3G>A | Primary familial hypertrophic cardiomyopathy [RCV003866221] | uncertain significance | 11 | 6609848 | 6609848 | Human | 1 | name |
| 12843771 | CV372288 | single nucleotide variant | NM_004517.4(ILK):c.255+4C>T | Primary familial hypertrophic cardiomyopathy [RCV000476681]|not provided [RCV001721370] | likely benign|uncertain significance | 11 | 6608215 | 6608215 | Human | 1 | name |
| 12836662 | CV374191 | single nucleotide variant | NM_004517.4(ILK):c.729-7C>A | ILK-related disorder [RCV003912706]|Primary familial hypertrophic cardiomyopathy [RCV000475855]|not provided [RCV001703864] | likely benign | 11 | 6609505 | 6609505 | Human | 2 | name , trait , alternate_id |
| 597921863 | CV3843150 | single nucleotide variant | NM_004517.4(ILK):c.728+8A>C | Primary familial hypertrophic cardiomyopathy [RCV005184442] | likely benign | 11 | 6609416 | 6609416 | Human | 1 | name |
| 15145794 | CV690009 | single nucleotide variant | NM_004517.4(ILK):c.352-9T>G | Primary familial hypertrophic cardiomyopathy [RCV000866152] | likely benign | 11 | 6608685 | 6608685 | Human | 1 | name |
| 26902983 | CV851902 | single nucleotide variant | NM_004517.4(ILK):c.255+3A>G | Primary familial hypertrophic cardiomyopathy [RCV001069587] | uncertain significance | 11 | 6608214 | 6608214 | Human | 1 | name |
| 127245930 | CV1078513 | single nucleotide variant | NM_004517.4(ILK):c.1210-5C>T | Primary familial hypertrophic cardiomyopathy [RCV001393971] | likely benign | 11 | 6610457 | 6610457 | Human | 1 | name |
| 150486368 | CV1274050 | single nucleotide variant | NM_004517.4(ILK):c.1210-4G>A | Primary familial hypertrophic cardiomyopathy [RCV002073259]|not provided [RCV001698920] | benign|likely benign | 11 | 6610458 | 6610458 | Human | 1 | name |
| 150467215 | CV1277533 | single nucleotide variant | NM_004517.4(ILK):c.90-234G>A | not provided [RCV001710828] | benign | 11 | 6607812 | 6607812 | Human | | name |
| 150543320 | CV1308939 | single nucleotide variant | NM_004517.4(ILK):c.-92-95A>G | not provided [RCV001769852] | likely benign | 11 | 6604085 | 6604085 | Human | | name |
| 151818744 | CV1390622 | single nucleotide variant | NM_004517.4(ILK):c.1210-2A>G | Primary familial hypertrophic cardiomyopathy [RCV001954545] | uncertain significance | 11 | 6610460 | 6610460 | Human | 1 | name |
| 151723238 | CV1424898 | single nucleotide variant | NM_004517.4(ILK):c.255+19G>A | Primary familial hypertrophic cardiomyopathy [RCV001891397] | likely benign | 11 | 6608230 | 6608230 | Human | 1 | name |
| 151832358 | CV1455882 | single nucleotide variant | NM_004517.4(ILK):c.1078+5G>A | Primary familial hypertrophic cardiomyopathy [RCV002050846] | uncertain significance | 11 | 6610040 | 6610040 | Human | 1 | name |
| 151812480 | CV1498058 | single nucleotide variant | NM_004517.4(ILK):c.857-10C>T | Primary familial hypertrophic cardiomyopathy [RCV001953962] | likely benign | 11 | 6609714 | 6609714 | Human | 1 | name |
| 152081483 | CV1546762 | single nucleotide variant | NM_004517.4(ILK):c.978+10C>G | Primary familial hypertrophic cardiomyopathy [RCV002130871] | likely benign | 11 | 6609855 | 6609855 | Human | 1 | name |
| 152116293 | CV1566869 | single nucleotide variant | NM_004517.4(ILK):c.856+14T>C | Primary familial hypertrophic cardiomyopathy [RCV002097533] | likely benign | 11 | 6609653 | 6609653 | Human | 1 | name |
| 152096881 | CV1597555 | single nucleotide variant | NM_004517.4(ILK):c.449-11T>C | Primary familial hypertrophic cardiomyopathy [RCV002114810] | likely benign | 11 | 6608873 | 6608873 | Human | 1 | name |
| 152066886 | CV1601789 | single nucleotide variant | NM_004517.4(ILK):c.449-15G>A | Primary familial hypertrophic cardiomyopathy [RCV002168785] | likely benign | 11 | 6608869 | 6608869 | Human | 1 | name |
| 152053045 | CV1607329 | single nucleotide variant | NM_004517.4(ILK):c.448+11C>G | Primary familial hypertrophic cardiomyopathy [RCV002109216] | likely benign | 11 | 6608801 | 6608801 | Human | 1 | name |
| 152138748 | CV1645351 | single nucleotide variant | NM_004517.4(ILK):c.351+18A>G | Primary familial hypertrophic cardiomyopathy [RCV002137902] | likely benign | 11 | 6608507 | 6608507 | Human | 1 | name |
| 152036647 | CV1645985 | single nucleotide variant | NM_004517.4(ILK):c.619-11C>T | Primary familial hypertrophic cardiomyopathy [RCV002205699] | benign | 11 | 6609288 | 6609288 | Human | 1 | name |
| 152126424 | CV1646348 | single nucleotide variant | NM_004517.4(ILK):c.533-14G>A | Primary familial hypertrophic cardiomyopathy [RCV002217468] | likely benign | 11 | 6609057 | 6609057 | Human | 1 | name |
| 152159603 | CV1649851 | single nucleotide variant | NM_004517.4(ILK):c.979-20A>G | Primary familial hypertrophic cardiomyopathy [RCV002159400] | likely benign | 11 | 6609916 | 6609916 | Human | 1 | name |
| 152054082 | CV1665375 | single nucleotide variant | NM_004517.4(ILK):c.619-18C>G | Primary familial hypertrophic cardiomyopathy [RCV002089500] | likely benign | 11 | 6609281 | 6609281 | Human | 1 | name |
| 156414558 | CV1912526 | single nucleotide variant | NM_004517.4(ILK):c.729-20C>G | Primary familial hypertrophic cardiomyopathy [RCV002588675] | uncertain significance | 11 | 6609492 | 6609492 | Human | 1 | name |
| 156364213 | CV1934857 | single nucleotide variant | NM_004517.4(ILK):c.729-15C>T | Primary familial hypertrophic cardiomyopathy [RCV002651844] | likely benign | 11 | 6609497 | 6609497 | Human | 1 | name |
| 10055782 | CV198367 | deletion | NM_004517.4(ILK):c.448+12del | Cardiomyopathy [RCV000183455]|not specified [RCV000611093] | benign|no classifications from unflagged records | 11 | 6608799 | 6608799 | Human | 2 | name |
| 155953061 | CV2043835 | single nucleotide variant | NM_004517.4(ILK):c.856+16G>T | Primary familial hypertrophic cardiomyopathy [RCV002775876] | likely benign | 11 | 6609655 | 6609655 | Human | 1 | name |
| 156023299 | CV2184742 | single nucleotide variant | NM_004517.4(ILK):c.532+13T>C | Primary familial hypertrophic cardiomyopathy [RCV003035838] | likely benign | 11 | 6608980 | 6608980 | Human | 1 | name |
| 11094971 | CV230223 | single nucleotide variant | NM_004517.4(ILK):c.532+14G>A | not specified [RCV000221726] | likely benign | 11 | 6608981 | 6608981 | Human | | name |
| 11089923 | CV230224 | single nucleotide variant | NM_004517.4(ILK):c.618+10G>A | not specified [RCV000215415] | likely benign | 11 | 6609166 | 6609166 | Human | | name |
| 11091280 | CV230226 | single nucleotide variant | NM_004517.4(ILK):c.857-12G>A | Primary familial hypertrophic cardiomyopathy [RCV002057111]|not provided [RCV004705046]|not specified [RCV000217112] | benign|likely benign|conflicting interpretations of pathogenicity | 11 | 6609712 | 6609712 | Human | 1 | name |
| 402523187 | CV2876946 | single nucleotide variant | NM_004517.4(ILK):c.255+17T>G | Primary familial hypertrophic cardiomyopathy [RCV003510998] | likely benign | 11 | 6608228 | 6608228 | Human | 1 | name |
| 404979585 | CV2889460 | deletion | NM_004517.4(ILK):c.618+19del | Primary familial hypertrophic cardiomyopathy [RCV003511274] | likely benign | 11 | 6609175 | 6609175 | Human | 1 | name |
| 402507219 | CV2912468 | single nucleotide variant | NM_004517.4(ILK):c.979-14T>C | Primary familial hypertrophic cardiomyopathy [RCV003509407] | likely benign | 11 | 6609922 | 6609922 | Human | 1 | name |
| 402507758 | CV2915855 | single nucleotide variant | NM_004517.4(ILK):c.857-12G>C | Primary familial hypertrophic cardiomyopathy [RCV003509441] | likely benign | 11 | 6609712 | 6609712 | Human | 1 | name |
| 405169300 | CV2950407 | single nucleotide variant | NM_004517.4(ILK):c.978+13G>A | Primary familial hypertrophic cardiomyopathy [RCV003621912] | likely benign | 11 | 6609858 | 6609858 | Human | 1 | name |
| 402465071 | CV2967468 | single nucleotide variant | NM_004517.4(ILK):c.619-13A>C | Primary familial hypertrophic cardiomyopathy [RCV003622508] | likely benign | 11 | 6609286 | 6609286 | Human | 1 | name |
| 402467555 | CV3009186 | single nucleotide variant | NM_004517.4(ILK):c.729-14C>T | Primary familial hypertrophic cardiomyopathy [RCV003623205] | likely benign | 11 | 6609498 | 6609498 | Human | 1 | name |
| 402469629 | CV3044105 | single nucleotide variant | NM_004517.4(ILK):c.533-16C>T | Primary familial hypertrophic cardiomyopathy [RCV003623761] | likely benign | 11 | 6609055 | 6609055 | Human | 1 | name |
| 12843547 | CV371599 | single nucleotide variant | NM_004517.4(ILK):c.351+10C>T | Primary familial hypertrophic cardiomyopathy [RCV001460751]|not specified [RCV000436407] | likely benign | 11 | 6608499 | 6608499 | Human | 1 | name |
| 12833372 | CV372519 | single nucleotide variant | NM_004517.4(ILK):c.255+10A>G | Primary familial hypertrophic cardiomyopathy [RCV001453520]|not provided [RCV001704332] | likely benign | 11 | 6608221 | 6608221 | Human | 1 | name |
| 12836013 | CV374185 | single nucleotide variant | NM_004517.4(ILK):c.351+19A>T | Primary familial hypertrophic cardiomyopathy [RCV002059743]|not specified [RCV000422672] | likely benign | 11 | 6608508 | 6608508 | Human | 1 | name |
| 597846138 | CV3753061 | single nucleotide variant | NM_004517.4(ILK):c.728+17C>T | Primary familial hypertrophic cardiomyopathy [RCV005087286] | likely benign | 11 | 6609425 | 6609425 | Human | 1 | name |
| 597875463 | CV3766289 | single nucleotide variant | NM_004517.4(ILK):c.256-14G>T | Primary familial hypertrophic cardiomyopathy [RCV005108421] | likely benign | 11 | 6608380 | 6608380 | Human | 1 | name |
| 597882334 | CV3803114 | single nucleotide variant | NM_004517.4(ILK):c.533-11C>T | Primary familial hypertrophic cardiomyopathy [RCV005149965] | likely benign | 11 | 6609060 | 6609060 | Human | 1 | name |
| 597856814 | CV3849774 | single nucleotide variant | NM_004517.4(ILK):c.729-10C>T | Primary familial hypertrophic cardiomyopathy [RCV005195283] | likely benign | 11 | 6609502 | 6609502 | Human | 1 | name |
| 13526617 | CV503350 | single nucleotide variant | NM_004517.4(ILK):c.728+13G>A | Primary familial hypertrophic cardiomyopathy [RCV002529575]|not specified [RCV000604365] | likely benign | 11 | 6609421 | 6609421 | Human | 1 | name |
| 13540980 | CV503361 | duplication | NM_004517.4(ILK):c.979-17dup | Primary familial hypertrophic cardiomyopathy [RCV003621559]|not specified [RCV000615494] | likely benign | 11 | 6609918 | 6609919 | Human | 1 | name |
| 13537174 | CV503366 | single nucleotide variant | NM_004517.4(ILK):c.1079-8C>T | Primary familial hypertrophic cardiomyopathy [RCV001860260]|not specified [RCV000610031] | likely benign|uncertain significance | 11 | 6610140 | 6610140 | Human | 1 | name |
| 14729323 | CV665112 | single nucleotide variant | NM_004517.4(ILK):c.-92-39A>G | not provided [RCV000835168] | likely benign | 11 | 6604141 | 6604141 | Human | | name |
| 14722111 | CV665764 | single nucleotide variant | NM_004517.4(ILK):c.255+89G>A | not provided [RCV000831961] | benign | 11 | 6608300 | 6608300 | Human | | name |
| 14718539 | CV665958 | single nucleotide variant | NM_004517.4(ILK):c.618+23T>C | not provided [RCV000830425] | benign | 11 | 6609179 | 6609179 | Human | | name |
| 14724312 | CV666108 | single nucleotide variant | NM_004517.4(ILK):c.351+39G>A | not provided [RCV000832927] | likely benign | 11 | 6608528 | 6608528 | Human | | name |
| 14742480 | CV666117 | single nucleotide variant | NM_004517.4(ILK):c.619-12C>A | Primary familial hypertrophic cardiomyopathy [RCV005056620]|not provided [RCV000841422] | likely benign | 11 | 6609287 | 6609287 | Human | 1 | name |
| 15189785 | CV775935 | single nucleotide variant | NM_004517.4(ILK):c.857-10C>G | Primary familial hypertrophic cardiomyopathy [RCV001444951] | likely benign | 11 | 6609714 | 6609714 | Human | 1 | name |
| 150542831 | CV1306623 | single nucleotide variant | NM_004517.4(ILK):c.1209+52A>C | not provided [RCV001769687] | likely benign | 11 | 6610330 | 6610330 | Human | | name |
| 150536140 | CV1309147 | single nucleotide variant | NM_004517.4(ILK):c.-93+150G>C | not provided [RCV001759354] | likely benign | 11 | 6603972 | 6603972 | Human | | name |
| 8691335 | CV141295 | single nucleotide variant | NM_004517.4(ILK):c.1079-18C>T | Primary familial hypertrophic cardiomyopathy [RCV002055571]|not provided [RCV004718004]|not specified [RCV000125419] | benign | 11 | 6610130 | 6610130 | Human | 1 | name |
| 152133292 | CV1544891 | single nucleotide variant | NM_004517.4(ILK):c.1210-20T>A | Primary familial hypertrophic cardiomyopathy [RCV002177088] | likely benign | 11 | 6610442 | 6610442 | Human | 1 | name |
| 152041195 | CV1553475 | single nucleotide variant | NM_004517.4(ILK):c.1209+13C>T | Primary familial hypertrophic cardiomyopathy [RCV002087984] | likely benign | 11 | 6610291 | 6610291 | Human | 1 | name |
| 152142283 | CV1586602 | single nucleotide variant | NM_004517.4(ILK):c.1079-15G>A | Primary familial hypertrophic cardiomyopathy [RCV002178214] | likely benign | 11 | 6610133 | 6610133 | Human | 1 | name |
| 152094265 | CV1634481 | single nucleotide variant | NM_004517.4(ILK):c.1210-13C>G | Primary familial hypertrophic cardiomyopathy [RCV002213149] | likely benign | 11 | 6610449 | 6610449 | Human | 1 | name |
| 156285770 | CV1964579 | single nucleotide variant | NM_004517.4(ILK):c.1210-11T>C | Primary familial hypertrophic cardiomyopathy [RCV002577633] | likely benign | 11 | 6610451 | 6610451 | Human | 1 | name |
| 155917157 | CV2031893 | single nucleotide variant | NM_004517.4(ILK):c.1210-11T>G | Primary familial hypertrophic cardiomyopathy [RCV002727193] | likely benign | 11 | 6610451 | 6610451 | Human | 1 | name |
| 156018161 | CV2121530 | single nucleotide variant | NM_004517.4(ILK):c.1210-17T>A | Primary familial hypertrophic cardiomyopathy [RCV002948638] | likely benign | 11 | 6610445 | 6610445 | Human | 1 | name |
| 156018025 | CV2173916 | single nucleotide variant | NM_004517.4(ILK):c.1210-18T>C | Primary familial hypertrophic cardiomyopathy [RCV003035587] | likely benign | 11 | 6610444 | 6610444 | Human | 1 | name |
| 402466702 | CV2992069 | single nucleotide variant | NM_004517.4(ILK):c.1209+15G>C | Primary familial hypertrophic cardiomyopathy [RCV003622983] | likely benign | 11 | 6610293 | 6610293 | Human | 1 | name |
| 402464270 | CV3074698 | single nucleotide variant | NM_004517.4(ILK):c.1209+18T>C | Primary familial hypertrophic cardiomyopathy [RCV003622357] | likely benign | 11 | 6610296 | 6610296 | Human | 1 | name |
| 12844604 | CV372295 | single nucleotide variant | NM_004517.4(ILK):c.1079-14C>A | not specified [RCV000438289] | likely benign | 11 | 6610134 | 6610134 | Human | | name |
| 597893602 | CV3833302 | single nucleotide variant | NM_004517.4(ILK):c.1078+18G>T | Primary familial hypertrophic cardiomyopathy [RCV005179994] | likely benign | 11 | 6610053 | 6610053 | Human | 1 | name |
| 14742975 | CV665115 | single nucleotide variant | NM_004517.4(ILK):c.1079-10A>C | ILK-related disorder [RCV003918307]|Primary familial hypertrophic cardiomyopathy [RCV001451940]|not provided [RCV000841749]|not specified [RCV001727804] | benign|likely benign | 11 | 6610138 | 6610138 | Human | 2 | name , trait , alternate_id |
| 402465309 | CV2972967 | duplication | NM_004517.4(ILK):c.252_255+9dup | Primary familial hypertrophic cardiomyopathy [RCV003622624] | uncertain significance | 11 | 6608202 | 6608203 | Human | 1 | name |
| 155920136 | CV1991180 | single nucleotide variant | NM_004517.4(ILK):c.15C>T (p.Phe5=) | Primary familial hypertrophic cardiomyopathy [RCV002614520] | likely benign | 11 | 6604286 | 6604286 | Human | 1 | name |
| 329379790 | CV2429941 | single nucleotide variant | NM_004517.4(ILK):c.21G>A (p.Gln7=) | not specified [RCV004245085] | likely benign | 11 | 6604292 | 6604292 | Human | | name |
| 12844094 | CV371596 | single nucleotide variant | NM_004517.4(ILK):c.12T>A (p.Ile4=) | Primary familial hypertrophic cardiomyopathy [RCV002521810]|not specified [RCV000437389] | likely benign | 11 | 6604283 | 6604283 | Human | 1 | name |
| 126759040 | CV994662 | duplication | NM_004517.4(ILK):c.978+5_979-38dup | Primary familial hypertrophic cardiomyopathy [RCV001299376] | uncertain significance | 11 | 6609849 | 6609850 | Human | 1 | name |
| 127327275 | CV1142576 | single nucleotide variant | NM_004517.4(ILK):c.69G>C (p.Thr23=) | Primary familial hypertrophic cardiomyopathy [RCV001486296] | likely benign | 11 | 6604340 | 6604340 | Human | 1 | name |
| 155742843 | CV1806240 | single nucleotide variant | NM_004517.4(ILK):c.52C>T (p.Leu18=) | Primary familial hypertrophic cardiomyopathy [RCV003621634]|not specified [RCV004052367] | likely benign | 11 | 6604323 | 6604323 | Human | 1 | name |
| 155710308 | CV1811631 | single nucleotide variant | NM_004517.4(ILK):c.63C>T (p.Asp21=) | Primary familial hypertrophic cardiomyopathy [RCV003098233]|not specified [RCV004053940] | likely benign | 11 | 6604334 | 6604334 | Human | 1 | name |
| 155728990 | CV1822713 | single nucleotide variant | NM_004517.4(ILK):c.72G>A (p.Glu24=) | not specified [RCV004055870] | likely benign | 11 | 6604343 | 6604343 | Human | | name |
| 156300027 | CV1929484 | deletion | NM_004517.4(ILK):c.449-15_449-12del | Primary familial hypertrophic cardiomyopathy [RCV002647592] | likely benign | 11 | 6608867 | 6608870 | Human | 1 | name |
| 156329775 | CV2116393 | microsatellite | NM_004517.4(ILK):c.618+16_618+18del | Primary familial hypertrophic cardiomyopathy [RCV002938300] | likely benign | 11 | 6609169 | 6609171 | Human | | name |
| 405172697 | CV3071025 | deletion | NM_004517.4(ILK):c.857-19_857-17del | Primary familial hypertrophic cardiomyopathy [RCV003622275] | likely benign | 11 | 6609705 | 6609707 | Human | 1 | name |
| 597775178 | CV3686640 | single nucleotide variant | NM_004517.4(ILK):c.48T>C (p.Val16=) | not specified [RCV004929318] | likely benign | 11 | 6604319 | 6604319 | Human | | name |
| 597775189 | CV3686643 | single nucleotide variant | NM_004517.4(ILK):c.42C>T (p.Val14=) | not specified [RCV004929321] | likely benign | 11 | 6604313 | 6604313 | Human | | name |
| 597775193 | CV3686644 | single nucleotide variant | NM_004517.4(ILK):c.39A>G (p.Ala13=) | not specified [RCV004929322] | likely benign | 11 | 6604310 | 6604310 | Human | | name |
| 597775197 | CV3686645 | single nucleotide variant | NM_004517.4(ILK):c.45C>G (p.Ala15=) | not specified [RCV004929323] | likely benign | 11 | 6604316 | 6604316 | Human | | name |
| 597963375 | CV3791929 | single nucleotide variant | NM_004517.4(ILK):c.75C>T (p.Asn25=) | Primary familial hypertrophic cardiomyopathy [RCV005139485] | likely benign | 11 | 6604346 | 6604346 | Human | 1 | name |
| 597975838 | CV3795956 | deletion | NM_004517.4(ILK):c.255+16_255+18del | Primary familial hypertrophic cardiomyopathy [RCV005144787] | likely benign | 11 | 6608226 | 6608228 | Human | 1 | name |
| 13494118 | CV461535 | single nucleotide variant | NM_004517.4(ILK):c.36C>T (p.Asn12=) | ILK-related disorder [RCV003905378]|Primary familial hypertrophic cardiomyopathy [RCV000558663]|not specified [RCV004023899] | benign|likely benign | 11 | 6604307 | 6604307 | Human | 2 | name , trait , alternate_id |
| 15133212 | CV684264 | single nucleotide variant | NM_004517.4(ILK):c.93C>T (p.Asp31=) | Primary familial hypertrophic cardiomyopathy [RCV002064477] | likely benign | 11 | 6608049 | 6608049 | Human | 1 | name |
| 26890369 | CV838776 | single nucleotide variant | NM_004517.4(ILK):c.7G>C (p.Asp3His) | Primary familial hypertrophic cardiomyopathy [RCV001059223] | uncertain significance | 11 | 6604278 | 6604278 | Human | 1 | name |
| 127274908 | CV1100247 | single nucleotide variant | NM_004517.4(ILK):c.171G>A (p.Gly57=) | Primary familial hypertrophic cardiomyopathy [RCV001432115]|not specified [RCV004631703] | likely benign | 11 | 6608127 | 6608127 | Human | 1 | name |
| 127302269 | CV1142577 | single nucleotide variant | NM_004517.4(ILK):c.117C>T (p.His39=) | Primary familial hypertrophic cardiomyopathy [RCV001499045] | likely benign | 11 | 6608073 | 6608073 | Human | 1 | name |
| 127290046 | CV1142578 | single nucleotide variant | NM_004517.4(ILK):c.207C>T (p.Thr69=) | Primary familial hypertrophic cardiomyopathy [RCV001495862] | likely benign | 11 | 6608163 | 6608163 | Human | 1 | name |
| 8691331 | CV141291 | single nucleotide variant | NM_004517.4(ILK):c.297C>T (p.His99=) | Primary familial hypertrophic cardiomyopathy [RCV001516882]|not provided [RCV004718001]|not specified [RCV000125415] | benign|likely benign | 11 | 6608435 | 6608435 | Human | 1 | name |
| 152142360 | CV1538215 | single nucleotide variant | NM_004517.4(ILK):c.111C>T (p.Pro37=) | Primary familial hypertrophic cardiomyopathy [RCV002219542]|not specified [RCV004045672] | likely benign | 11 | 6608067 | 6608067 | Human | 1 | name |
| 152094077 | CV1565689 | single nucleotide variant | NM_004517.4(ILK):c.288G>A (p.Val96=) | Primary familial hypertrophic cardiomyopathy [RCV002150966]|not specified [RCV004631972] | likely benign | 11 | 6608426 | 6608426 | Human | 1 | name |
| 152113191 | CV1595336 | single nucleotide variant | NM_004517.4(ILK):c.231T>C (p.His77=) | Primary familial hypertrophic cardiomyopathy [RCV002116825]|not provided [RCV004706334]|not specified [RCV004045822] | likely benign | 11 | 6608187 | 6608187 | Human | 1 | name |
| 9586842 | CV165550 | duplication | NM_004517.4(ILK):c.86dup (p.Asp31fs) | Primary familial hypertrophic cardiomyopathy [RCV000143900] | uncertain significance | 11 | 6604356 | 6604357 | Human | 1 | name |
| 155678615 | CV1840323 | single nucleotide variant | NM_004517.4(ILK):c.207C>G (p.Thr69=) | not specified [RCV004060255] | likely benign | 11 | 6608163 | 6608163 | Human | | name |
| 155709599 | CV1843927 | single nucleotide variant | NM_004517.4(ILK):c.213G>A (p.Leu71=) | not specified [RCV004060993] | likely benign | 11 | 6608169 | 6608169 | Human | | name |
| 155727887 | CV1845199 | single nucleotide variant | NM_004517.4(ILK):c.246T>A (p.Ile82=) | not specified [RCV004063928] | likely benign | 11 | 6608202 | 6608202 | Human | | name |
| 155674278 | CV1855747 | single nucleotide variant | NM_004517.4(ILK):c.111C>A (p.Pro37=) | Primary familial hypertrophic cardiomyopathy [RCV003102823]|not specified [RCV004063027] | likely benign | 11 | 6608067 | 6608067 | Human | 1 | name |
| 155937015 | CV2135026 | single nucleotide variant | NM_004517.4(ILK):c.261G>A (p.Leu87=) | Primary familial hypertrophic cardiomyopathy [RCV002993802]|not specified [RCV004632131] | likely benign | 11 | 6608399 | 6608399 | Human | 1 | name |
| 11091610 | CV230222 | single nucleotide variant | NM_004517.4(ILK):c.252G>A (p.Gln84=) | Primary familial hypertrophic cardiomyopathy [RCV001393025]|not provided [RCV001640335]|not specified [RCV000217512] | likely benign | 11 | 6608208 | 6608208 | Human | 1 | name |
| 405689364 | CV3390111 | single nucleotide variant | NM_004517.4(ILK):c.186A>C (p.Val62=) | not specified [RCV004519032] | likely benign | 11 | 6608142 | 6608142 | Human | | name |
| 597775166 | CV3686637 | single nucleotide variant | NM_004517.4(ILK):c.138C>A (p.Arg46=) | not specified [RCV004929315] | likely benign | 11 | 6608094 | 6608094 | Human | | name |
| 597775170 | CV3686638 | single nucleotide variant | NM_004517.4(ILK):c.157T>C (p.Leu53=) | not specified [RCV004929316] | likely benign | 11 | 6608113 | 6608113 | Human | | name |
| 597775174 | CV3686639 | single nucleotide variant | NM_004517.4(ILK):c.186A>G (p.Val62=) | not specified [RCV004929317] | likely benign | 11 | 6608142 | 6608142 | Human | | name |
| 597775182 | CV3686641 | single nucleotide variant | NM_004517.4(ILK):c.177G>A (p.Arg59=) | not specified [RCV004929319] | likely benign | 11 | 6608133 | 6608133 | Human | | name |
| 597775186 | CV3686642 | single nucleotide variant | NM_004517.4(ILK):c.132G>A (p.Glu44=) | not specified [RCV004929320] | likely benign | 11 | 6608088 | 6608088 | Human | | name |
| 12840629 | CV372285 | single nucleotide variant | NM_004517.4(ILK):c.219G>C (p.Leu73=) | not specified [RCV000431078] | likely benign | 11 | 6608175 | 6608175 | Human | | name |
| 12839850 | CV372294 | single nucleotide variant | NM_004517.4(ILK):c.279C>A (p.Ile93=) | Primary familial hypertrophic cardiomyopathy [RCV001504425]|not specified [RCV000429587] | likely benign | 11 | 6608417 | 6608417 | Human | 1 | name |
| 12834120 | CV374182 | single nucleotide variant | NM_004517.4(ILK):c.282T>C (p.Asn94=) | Primary familial hypertrophic cardiomyopathy [RCV000638618]|not provided [RCV001703546]|not specified [RCV004022307] | benign|likely benign | 11 | 6608420 | 6608420 | Human | 1 | name |
| 597927225 | CV3778603 | duplication | NM_004517.4(ILK):c.29dup (p.Asn12fs) | Primary familial hypertrophic cardiomyopathy [RCV005131126] | uncertain significance | 11 | 6604299 | 6604300 | Human | 1 | name |
| 597881325 | CV3857411 | single nucleotide variant | NM_004517.4(ILK):c.259T>C (p.Leu87=) | Primary familial hypertrophic cardiomyopathy [RCV005199027] | likely benign | 11 | 6608397 | 6608397 | Human | 1 | name |
| 13535821 | CV504305 | single nucleotide variant | NM_004517.4(ILK):c.222A>T (p.Ala74=) | not specified [RCV000608102] | likely benign | 11 | 6608178 | 6608178 | Human | | name |
| 14707730 | CV656074 | single nucleotide variant | NM_004517.4(ILK):c.234A>G (p.Gly78=) | Primary familial hypertrophic cardiomyopathy [RCV001435791]|not provided [RCV000826924]|not specified [RCV004927645] | likely benign | 11 | 6608190 | 6608190 | Human | 1 | name |
| 15116330 | CV768613 | single nucleotide variant | NM_004517.4(ILK):c.183T>C (p.Asn61=) | Primary familial hypertrophic cardiomyopathy [RCV001443143]|not specified [RCV004029688] | likely benign | 11 | 6608139 | 6608139 | Human | 1 | name |
| 126922356 | CV1047389 | single nucleotide variant | NM_004517.4(ILK):c.35A>G (p.Asn12Ser) | Primary familial hypertrophic cardiomyopathy [RCV001364575] | uncertain significance | 11 | 6604306 | 6604306 | Human | 1 | name |
| 127230580 | CV1078509 | single nucleotide variant | NM_004517.4(ILK):c.654C>T (p.Val218=) | Primary familial hypertrophic cardiomyopathy [RCV001412531]|not specified [RCV005348504] | likely benign | 11 | 6609334 | 6609334 | Human | 1 | name |
| 127277965 | CV1078510 | single nucleotide variant | NM_004517.4(ILK):c.738G>C (p.Ser246=) | Primary familial hypertrophic cardiomyopathy [RCV001408185]|not specified [RCV004038035] | likely benign | 11 | 6609521 | 6609521 | Human | 1 | name |
| 127271125 | CV1100248 | single nucleotide variant | NM_004517.4(ILK):c.522C>T (p.Arg174=) | Primary familial hypertrophic cardiomyopathy [RCV001441708] | likely benign | 11 | 6608957 | 6608957 | Human | 1 | name |
| 127233025 | CV1100249 | single nucleotide variant | NM_004517.4(ILK):c.861C>T (p.Phe287=) | Primary familial hypertrophic cardiomyopathy [RCV001421563]|not specified [RCV004038195] | likely benign | 11 | 6609728 | 6609728 | Human | 1 | name |
| 127232117 | CV1100250 | single nucleotide variant | NM_004517.4(ILK):c.909G>A (p.Arg303=) | Primary familial hypertrophic cardiomyopathy [RCV001421154]|not specified [RCV004038189] | likely benign | 11 | 6609776 | 6609776 | Human | 1 | name |
| 127292675 | CV1121731 | single nucleotide variant | NM_004517.4(ILK):c.555C>T (p.His185=) | Primary familial hypertrophic cardiomyopathy [RCV001459007]|not specified [RCV004038569] | likely benign | 11 | 6609093 | 6609093 | Human | 1 | name |
| 127334666 | CV1121732 | single nucleotide variant | NM_004517.4(ILK):c.885G>A (p.Val295=) | Primary familial hypertrophic cardiomyopathy [RCV001473738] | likely benign | 11 | 6609752 | 6609752 | Human | 1 | name |
| 127330398 | CV1142579 | single nucleotide variant | NM_004517.4(ILK):c.801C>T (p.Leu267=) | Primary familial hypertrophic cardiomyopathy [RCV001488136]|not specified [RCV004037287] | likely benign | 11 | 6609584 | 6609584 | Human | 1 | name |
| 127301890 | CV1142580 | single nucleotide variant | NM_004517.4(ILK):c.930A>T (p.Thr310=) | Primary familial hypertrophic cardiomyopathy [RCV001478819] | likely benign | 11 | 6609797 | 6609797 | Human | 1 | name |
| 150479959 | CV1282445 | single nucleotide variant | NM_004517.4(ILK):c.906A>G (p.Ala302=) | Primary familial hypertrophic cardiomyopathy [RCV002073358]|not provided [RCV001714553]|not specified [RCV004039971] | benign|likely benign | 11 | 6609773 | 6609773 | Human | 1 | name |
| 151858640 | CV1403537 | single nucleotide variant | NM_004517.4(ILK):c.79C>A (p.Leu27Ile) | Primary familial hypertrophic cardiomyopathy [RCV001996844] | uncertain significance | 11 | 6604350 | 6604350 | Human | 1 | name |
| 8691333 | CV141293 | single nucleotide variant | NM_004517.4(ILK):c.819G>A (p.Pro273=) | Primary familial hypertrophic cardiomyopathy [RCV001516883]|not provided [RCV004718002]|not specified [RCV000125417] | benign|likely benign | 11 | 6609602 | 6609602 | Human | 1 | name |
| 8691334 | CV141294 | single nucleotide variant | NM_004517.4(ILK):c.918C>T (p.Ala306=) | Primary familial hypertrophic cardiomyopathy [RCV001513851]|not provided [RCV004718003]|not specified [RCV000125418] | benign | 11 | 6609785 | 6609785 | Human | 1 | name |
| 152053858 | CV1523784 | single nucleotide variant | NM_004517.4(ILK):c.837T>C (p.Asn279=) | Primary familial hypertrophic cardiomyopathy [RCV002127543]|not specified [RCV004927811] | likely benign | 11 | 6609620 | 6609620 | Human | 1 | name |
| 152097412 | CV1597634 | single nucleotide variant | NM_004517.4(ILK):c.588G>A (p.Leu196=) | Primary familial hypertrophic cardiomyopathy [RCV002114873] | likely benign | 11 | 6609126 | 6609126 | Human | 1 | name |
| 152054215 | CV1609964 | single nucleotide variant | NM_004517.4(ILK):c.387T>C (p.Cys129=) | Primary familial hypertrophic cardiomyopathy [RCV002167234] | likely benign | 11 | 6608729 | 6608729 | Human | 1 | name |
| 152048003 | CV1654105 | single nucleotide variant | NM_004517.4(ILK):c.924A>G (p.Leu308=) | Primary familial hypertrophic cardiomyopathy [RCV002088780] | likely benign | 11 | 6609791 | 6609791 | Human | 1 | name |
| 155739169 | CV1794214 | single nucleotide variant | NM_004517.4(ILK):c.432G>A (p.Leu144=) | not specified [RCV004050005] | likely benign | 11 | 6608774 | 6608774 | Human | | name |
| 155687522 | CV1803648 | single nucleotide variant | NM_004517.4(ILK):c.591G>A (p.Thr197=) | Primary familial hypertrophic cardiomyopathy [RCV003509724]|not specified [RCV004054269] | likely benign|uncertain significance | 11 | 6609129 | 6609129 | Human | 1 | name |
| 155689239 | CV1803962 | single nucleotide variant | NM_004517.4(ILK):c.597C>A (p.Leu199=) | not specified [RCV004052512] | likely benign | 11 | 6609135 | 6609135 | Human | | name |
| 155710172 | CV1811601 | single nucleotide variant | NM_004517.4(ILK):c.639G>A (p.Gln213=) | not specified [RCV004053934] | likely benign | 11 | 6609319 | 6609319 | Human | | name |
| 155689097 | CV1814415 | single nucleotide variant | NM_004517.4(ILK):c.876C>T (p.Ser292=) | Primary familial hypertrophic cardiomyopathy [RCV003103531]|not specified [RCV004056693] | likely benign | 11 | 6609743 | 6609743 | Human | 1 | name |
| 155718436 | CV1819367 | single nucleotide variant | NM_004517.4(ILK):c.738G>T (p.Ser246=) | not specified [RCV004055971] | likely benign | 11 | 6609521 | 6609521 | Human | | name |
| 155692011 | CV1821516 | single nucleotide variant | NM_004517.4(ILK):c.94G>A (p.Asp32Asn) | Primary familial hypertrophic cardiomyopathy [RCV005097344]|not specified [RCV004056865] | uncertain significance | 11 | 6608050 | 6608050 | Human | 1 | name |
| 155712127 | CV1824229 | single nucleotide variant | NM_004517.4(ILK):c.846T>C (p.His282=) | Primary familial hypertrophic cardiomyopathy [RCV003509741]|not specified [RCV004056171] | likely benign | 11 | 6609629 | 6609629 | Human | 1 | name |
| 155698664 | CV1824414 | single nucleotide variant | NM_004517.4(ILK):c.885G>C (p.Val295=) | Primary familial hypertrophic cardiomyopathy [RCV005097287]|not specified [RCV004054823] | likely benign | 11 | 6609752 | 6609752 | Human | 1 | name |
| 155699783 | CV1824754 | single nucleotide variant | NM_004517.4(ILK):c.895T>C (p.Leu299=) | not specified [RCV004054893] | likely benign | 11 | 6609762 | 6609762 | Human | | name |
| 155675376 | CV1828941 | single nucleotide variant | NM_004517.4(ILK):c.98A>C (p.His33Pro) | not specified [RCV004057687] | uncertain significance | 11 | 6608054 | 6608054 | Human | | name |
| 156356890 | CV1877547 | single nucleotide variant | NM_004517.4(ILK):c.354C>T (p.Asp118=) | Primary familial hypertrophic cardiomyopathy [RCV003065313] | likely benign | 11 | 6608696 | 6608696 | Human | 1 | name |
| 156366307 | CV1909303 | single nucleotide variant | NM_004517.4(ILK):c.972T>C (p.Ser324=) | Primary familial hypertrophic cardiomyopathy [RCV002602848] | likely benign | 11 | 6609839 | 6609839 | Human | 1 | name |
| 10055784 | CV198363 | single nucleotide variant | NM_004517.4(ILK):c.65A>G (p.Asn22Ser) | Cardiomyopathy [RCV000852646]|ILK-related disorder [RCV003927713]|Primary familial hypertrophic cardiomyopathy [RCV000227217]|not provided [RCV001529459]|not specified [RCV000183457] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 6604336 | 6604336 | Human | 4 | name , trait , alternate_id |
| 10401420 | CV205169 | deletion | NM_004517.4(ILK):c.211del (p.Leu71fs) | not specified [RCV000190598] | uncertain significance | 11 | 6608162 | 6608162 | Human | | name |
| 155901928 | CV2083871 | single nucleotide variant | NM_004517.4(ILK):c.777T>C (p.Ser259=) | Primary familial hypertrophic cardiomyopathy [RCV002857913] | likely benign | 11 | 6609560 | 6609560 | Human | 1 | name |
| 156152642 | CV2101424 | single nucleotide variant | NM_004517.4(ILK):c.945C>T (p.Ile315=) | Primary familial hypertrophic cardiomyopathy [RCV002890705] | likely benign | 11 | 6609812 | 6609812 | Human | 1 | name |
| 401777413 | CV2728881 | single nucleotide variant | NM_004517.4(ILK):c.864C>G (p.Val288=) | not specified [RCV004331674] | likely benign | 11 | 6609731 | 6609731 | Human | | name |
| 401777416 | CV2728882 | single nucleotide variant | NM_004517.4(ILK):c.78C>A (p.Asp26Glu) | not specified [RCV004331675] | uncertain significance | 11 | 6604349 | 6604349 | Human | | name |
| 401745167 | CV2728884 | single nucleotide variant | NM_004517.4(ILK):c.399A>G (p.Gly133=) | not specified [RCV004331677] | likely benign | 11 | 6608741 | 6608741 | Human | | name |
| 401889142 | CV2760485 | single nucleotide variant | NM_004517.4(ILK):c.513G>T (p.Gly171=) | not specified [RCV004334235] | likely benign | 11 | 6608948 | 6608948 | Human | | name |
| 401892137 | CV2777263 | single nucleotide variant | NM_004517.4(ILK):c.67A>T (p.Thr23Ser) | not specified [RCV004354286] | uncertain significance | 11 | 6604338 | 6604338 | Human | | name |
| 402466072 | CV2989742 | single nucleotide variant | NM_004517.4(ILK):c.83A>G (p.Asn28Ser) | Primary familial hypertrophic cardiomyopathy [RCV003622841] | uncertain significance | 11 | 6604354 | 6604354 | Human | 1 | name |
| 402469331 | CV3034228 | single nucleotide variant | NM_004517.4(ILK):c.690G>A (p.Arg230=) | Primary familial hypertrophic cardiomyopathy [RCV003623680] | likely benign | 11 | 6609370 | 6609370 | Human | 1 | name |
| 405171991 | CV3073117 | single nucleotide variant | NM_004517.4(ILK):c.819G>C (p.Pro273=) | Primary familial hypertrophic cardiomyopathy [RCV003622207] | likely benign | 11 | 6609602 | 6609602 | Human | 1 | name |
| 402464133 | CV3074416 | single nucleotide variant | NM_004517.4(ILK):c.738G>A (p.Ser246=) | Primary familial hypertrophic cardiomyopathy [RCV003622312] | uncertain significance | 11 | 6609521 | 6609521 | Human | 1 | name |
| 402464246 | CV3074493 | single nucleotide variant | NM_004517.4(ILK):c.567C>T (p.Asp189=) | Primary familial hypertrophic cardiomyopathy [RCV003622349] | uncertain significance | 11 | 6609105 | 6609105 | Human | 1 | name |
| 405155679 | CV3152453 | single nucleotide variant | NM_004517.4(ILK):c.489A>G (p.Pro163=) | Primary familial hypertrophic cardiomyopathy [RCV003840380] | likely benign | 11 | 6608924 | 6608924 | Human | 1 | name |
| 405283968 | CV3200410 | single nucleotide variant | NM_004517.4(ILK):c.648C>T (p.Asp216=) | ILK-related disorder [RCV003979446] | likely benign | 11 | 6609328 | 6609328 | Human | | name , trait , alternate_id |
| 405805157 | CV3271304 | single nucleotide variant | NM_004517.4(ILK):c.46G>T (p.Val16Phe) | not specified [RCV004405365] | uncertain significance | 11 | 6604317 | 6604317 | Human | | name |
| 405689379 | CV3390114 | single nucleotide variant | NM_004517.4(ILK):c.771C>T (p.Cys257=) | not specified [RCV004519035] | likely benign | 11 | 6609554 | 6609554 | Human | | name |
| 405689387 | CV3390116 | single nucleotide variant | NM_004517.4(ILK):c.828C>T (p.Ser276=) | Primary familial hypertrophic cardiomyopathy [RCV005100486]|not specified [RCV004519037] | benign|likely benign | 11 | 6609611 | 6609611 | Human | 1 | name |
| 407479583 | CV3444677 | single nucleotide variant | NM_004517.4(ILK):c.441T>G (p.Leu147=) | Primary familial hypertrophic cardiomyopathy [RCV005059671]|not specified [RCV004628118] | likely benign | 11 | 6608783 | 6608783 | Human | 1 | name |
| 597775148 | CV3686632 | single nucleotide variant | NM_004517.4(ILK):c.879G>A (p.Gln293=) | not specified [RCV004929310] | likely benign | 11 | 6609746 | 6609746 | Human | | name |
| 597775156 | CV3686634 | single nucleotide variant | NM_004517.4(ILK):c.852C>G (p.Gly284=) | not specified [RCV004929312] | likely benign | 11 | 6609635 | 6609635 | Human | | name |
| 597775211 | CV3686649 | single nucleotide variant | NM_004517.4(ILK):c.786T>A (p.Ala262=) | Primary familial hypertrophic cardiomyopathy [RCV005110376]|not specified [RCV004929327] | likely benign | 11 | 6609569 | 6609569 | Human | 1 | name |
| 597775215 | CV3686650 | single nucleotide variant | NM_004517.4(ILK):c.931C>T (p.Leu311=) | not specified [RCV004929328] | likely benign | 11 | 6609798 | 6609798 | Human | | name |
| 12840753 | CV374186 | single nucleotide variant | NM_004517.4(ILK):c.600C>T (p.Asn200=) | Primary familial hypertrophic cardiomyopathy [RCV002063510]|not specified [RCV000431303] | likely benign | 11 | 6609138 | 6609138 | Human | 1 | name |
| 597958524 | CV3751905 | single nucleotide variant | NM_004517.4(ILK):c.723G>A (p.Arg241=) | Primary familial hypertrophic cardiomyopathy [RCV005081035] | likely benign | 11 | 6609403 | 6609403 | Human | 1 | name |
| 597939900 | CV3771997 | single nucleotide variant | NM_004517.4(ILK):c.663G>T (p.Val221=) | Primary familial hypertrophic cardiomyopathy [RCV005118252] | likely benign | 11 | 6609343 | 6609343 | Human | 1 | name |
| 597971623 | CV3802630 | single nucleotide variant | NM_004517.4(ILK):c.36C>G (p.Asn12Lys) | Primary familial hypertrophic cardiomyopathy [RCV005142228] | uncertain significance | 11 | 6604307 | 6604307 | Human | 1 | name |
| 597890462 | CV3839749 | single nucleotide variant | NM_004517.4(ILK):c.810C>T (p.His270=) | Primary familial hypertrophic cardiomyopathy [RCV005179641]|not specified [RCV005338590] | likely benign | 11 | 6609593 | 6609593 | Human | 1 | name |
| 597916962 | CV3851680 | single nucleotide variant | NM_004517.4(ILK):c.645T>C (p.Asn215=) | Primary familial hypertrophic cardiomyopathy [RCV005204441] | likely benign | 11 | 6609325 | 6609325 | Human | 1 | name |
| 597903815 | CV3856249 | single nucleotide variant | NM_004517.4(ILK):c.672T>C (p.Val224=) | Primary familial hypertrophic cardiomyopathy [RCV005202477] | likely benign | 11 | 6609352 | 6609352 | Human | 1 | name |
| 13527730 | CV503360 | single nucleotide variant | NM_004517.4(ILK):c.864C>T (p.Val288=) | ILK-related disorder [RCV003917955]|Primary familial hypertrophic cardiomyopathy [RCV000868778]|not specified [RCV000605278] | benign|likely benign | 11 | 6609731 | 6609731 | Human | 2 | name , trait , alternate_id |
| 13606722 | CV526937 | single nucleotide variant | NM_004517.4(ILK):c.468C>A (p.Gly156=) | Primary familial hypertrophic cardiomyopathy [RCV000638617]|not specified [RCV004025519] | likely benign | 11 | 6608903 | 6608903 | Human | 1 | name |
| 15148622 | CV752828 | single nucleotide variant | NM_004517.4(ILK):c.969T>C (p.Arg323=) | not provided [RCV000923130] | likely benign | 11 | 6609836 | 6609836 | Human | | name |
| 15148311 | CV768614 | single nucleotide variant | NM_004517.4(ILK):c.501A>G (p.Thr167=) | Primary familial hypertrophic cardiomyopathy [RCV001432842]|not specified [RCV004029761] | likely benign | 11 | 6608936 | 6608936 | Human | 1 | name |
| 15119035 | CV768615 | single nucleotide variant | NM_004517.4(ILK):c.708T>C (p.Asn236=) | Primary familial hypertrophic cardiomyopathy [RCV001476490]|not specified [RCV004029696] | likely benign | 11 | 6609388 | 6609388 | Human | 1 | name |
| 15197100 | CV768616 | single nucleotide variant | NM_004517.4(ILK):c.714G>A (p.Glu238=) | Primary familial hypertrophic cardiomyopathy [RCV000934412]|not specified [RCV004029612] | likely benign | 11 | 6609394 | 6609394 | Human | 1 | name |
| 126740317 | CV1009846 | single nucleotide variant | NM_004517.4(ILK):c.175C>G (p.Arg59Gly) | Primary familial hypertrophic cardiomyopathy [RCV001314361] | uncertain significance | 11 | 6608131 | 6608131 | Human | 1 | name |
| 127231444 | CV1078512 | single nucleotide variant | NM_004517.4(ILK):c.1122C>T (p.Asp374=) | ILK-related disorder [RCV003938706]|Primary familial hypertrophic cardiomyopathy [RCV001413110]|not specified [RCV004038102] | likely benign | 11 | 6610191 | 6610191 | Human | 2 | name , trait , alternate_id |
| 127263870 | CV1100251 | single nucleotide variant | NM_004517.4(ILK):c.1266T>C (p.Cys422=) | Primary familial hypertrophic cardiomyopathy [RCV001428677]|not specified [RCV004927705] | likely benign | 11 | 6610518 | 6610518 | Human | 1 | name |
| 127299134 | CV1121733 | single nucleotide variant | NM_004517.4(ILK):c.1188C>A (p.Ser396=) | Primary familial hypertrophic cardiomyopathy [RCV001453524]|not specified [RCV004038522] | likely benign | 11 | 6610257 | 6610257 | Human | 1 | name |
| 127296987 | CV1142581 | single nucleotide variant | NM_004517.4(ILK):c.1227T>C (p.Leu409=) | Primary familial hypertrophic cardiomyopathy [RCV001497668] | likely benign | 11 | 6610479 | 6610479 | Human | 1 | name |
| 150492087 | CV1225410 | single nucleotide variant | NM_004517.4(ILK):c.1140G>C (p.Val380=) | not provided [RCV001618925]|not specified [RCV004039542] | benign|likely benign | 11 | 6610209 | 6610209 | Human | | name |
| 151722136 | CV1361522 | single nucleotide variant | NM_004517.4(ILK):c.110C>T (p.Pro37Leu) | Primary familial hypertrophic cardiomyopathy [RCV001945068] | uncertain significance | 11 | 6608066 | 6608066 | Human | 1 | name |
| 151869403 | CV1379324 | single nucleotide variant | NM_004517.4(ILK):c.128G>A (p.Arg43Gln) | Primary familial hypertrophic cardiomyopathy [RCV001906275] | uncertain significance | 11 | 6608084 | 6608084 | Human | 1 | name |
| 151881372 | CV1499865 | single nucleotide variant | NM_004517.4(ILK):c.137G>A (p.Arg46His) | Primary familial hypertrophic cardiomyopathy [RCV001886529] | uncertain significance | 11 | 6608093 | 6608093 | Human | 1 | name |
| 152171564 | CV1544251 | single nucleotide variant | NM_004517.4(ILK):c.1338T>C (p.Leu446=) | Primary familial hypertrophic cardiomyopathy [RCV002162157]|not specified [RCV004044984] | likely benign | 11 | 6610590 | 6610590 | Human | 1 | name |
| 152131078 | CV1552978 | single nucleotide variant | NM_004517.4(ILK):c.1041T>C (p.Pro347=) | Primary familial hypertrophic cardiomyopathy [RCV002199329]|not specified [RCV004045540] | likely benign | 11 | 6609998 | 6609998 | Human | 1 | name |
| 152165501 | CV1611364 | single nucleotide variant | NM_004517.4(ILK):c.1014T>C (p.Ala338=) | Primary familial hypertrophic cardiomyopathy [RCV002141729]|not specified [RCV004046328] | likely benign | 11 | 6609971 | 6609971 | Human | 1 | name |
| 9832374 | CV178647 | single nucleotide variant | NM_004517.4(ILK):c.157T>A (p.Leu53Met) | Primary familial hypertrophic cardiomyopathy [RCV000157246]|not provided [RCV000757406] | benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 6608113 | 6608113 | Human | 1 | name |
| 155684641 | CV1827073 | single nucleotide variant | NM_004517.4(ILK):c.149T>C (p.Val50Ala) | Primary familial hypertrophic cardiomyopathy [RCV003621648]|not specified [RCV004058538] | uncertain significance | 11 | 6608105 | 6608105 | Human | 1 | name |
| 155682136 | CV1829795 | single nucleotide variant | NM_004517.4(ILK):c.140C>G (p.Ser47Cys) | Primary familial hypertrophic cardiomyopathy [RCV003095112]|not specified [RCV004057172] | uncertain significance | 11 | 6608096 | 6608096 | Human | 1 | name |
| 155710023 | CV1832749 | single nucleotide variant | NM_004517.4(ILK):c.1032C>T (p.Phe344=) | not specified [RCV004057090] | likely benign | 11 | 6609989 | 6609989 | Human | | name |
| 155733583 | CV1836150 | single nucleotide variant | NM_004517.4(ILK):c.136C>T (p.Arg46Cys) | Primary familial hypertrophic cardiomyopathy [RCV003095043]|not specified [RCV004058878] | uncertain significance | 11 | 6608092 | 6608092 | Human | 1 | name |
| 155677349 | CV1839985 | single nucleotide variant | NM_004517.4(ILK):c.205A>T (p.Thr69Ser) | not specified [RCV004059672] | uncertain significance | 11 | 6608161 | 6608161 | Human | | name |
| 155695457 | CV1844631 | single nucleotide variant | NM_004517.4(ILK):c.1089G>A (p.Lys363=) | not specified [RCV004061941] | likely benign | 11 | 6610158 | 6610158 | Human | | name |
| 155726684 | CV1848667 | single nucleotide variant | NM_004517.4(ILK):c.1104A>C (p.Thr368=) | not specified [RCV004062754] | likely benign | 11 | 6610173 | 6610173 | Human | | name |
| 155700771 | CV1851073 | single nucleotide variant | NM_004517.4(ILK):c.230A>G (p.His77Arg) | not specified [RCV004062644] | uncertain significance | 11 | 6608186 | 6608186 | Human | | name |
| 156283348 | CV1877227 | single nucleotide variant | NM_004517.4(ILK):c.238C>T (p.Arg80Cys) | Primary familial hypertrophic cardiomyopathy [RCV003061146]|not specified [RCV004070448] | uncertain significance | 11 | 6608194 | 6608194 | Human | 1 | name |
| 10055785 | CV198364 | single nucleotide variant | NM_004517.4(ILK):c.175C>T (p.Arg59Trp) | Primary familial hypertrophic cardiomyopathy [RCV000706695]|not provided [RCV000183459] | uncertain significance | 11 | 6608131 | 6608131 | Human | 1 | name |
| 10055786 | CV198365 | single nucleotide variant | NM_004517.4(ILK):c.184G>A (p.Val62Ile) | Primary familial hypertrophic cardiomyopathy [RCV001305619]|not provided [RCV000183460]|not specified [RCV004020215] | uncertain significance | 11 | 6608140 | 6608140 | Human | 1 | name |
| 10055783 | CV198369 | single nucleotide variant | NM_004517.3(ILK):c.1081C>T (p.Leu361=) | Cardiomyopathy [RCV000183456] | benign | 11 | 6610150 | 6610150 | Human | 1 | name |
| 156111805 | CV1998532 | single nucleotide variant | NM_004517.4(ILK):c.1074C>T (p.Pro358=) | Primary familial hypertrophic cardiomyopathy [RCV002639969] | likely benign | 11 | 6610031 | 6610031 | Human | 1 | name |
| 156116472 | CV2016989 | single nucleotide variant | NM_004517.4(ILK):c.264G>C (p.Gln88His) | Primary familial hypertrophic cardiomyopathy [RCV002740033] | uncertain significance | 11 | 6608402 | 6608402 | Human | 1 | name |
| 156111083 | CV2034978 | single nucleotide variant | NM_004517.4(ILK):c.266A>C (p.Tyr89Ser) | Primary familial hypertrophic cardiomyopathy [RCV002761695] | uncertain significance | 11 | 6608404 | 6608404 | Human | 1 | name |
| 156017592 | CV2035392 | single nucleotide variant | NM_004517.4(ILK):c.1263G>A (p.Val421=) | Primary familial hypertrophic cardiomyopathy [RCV002780485] | likely benign | 11 | 6610515 | 6610515 | Human | 1 | name |
| 156287142 | CV2067901 | single nucleotide variant | NM_004517.4(ILK):c.274G>A (p.Asp92Asn) | Primary familial hypertrophic cardiomyopathy [RCV002856599] | uncertain significance | 11 | 6608412 | 6608412 | Human | 1 | name |
| 329379793 | CV2429942 | single nucleotide variant | NM_004517.4(ILK):c.127C>G (p.Arg43Gly) | not specified [RCV004245086] | uncertain significance | 11 | 6608083 | 6608083 | Human | | name |
| 401745163 | CV2728883 | single nucleotide variant | NM_004517.4(ILK):c.1216T>C (p.Leu406=) | Primary familial hypertrophic cardiomyopathy [RCV003509800]|not specified [RCV004331676] | likely benign | 11 | 6610468 | 6610468 | Human | 1 | name |
| 402525315 | CV2885366 | single nucleotide variant | NM_004517.4(ILK):c.151G>C (p.Glu51Gln) | Primary familial hypertrophic cardiomyopathy [RCV003511170] | uncertain significance | 11 | 6608107 | 6608107 | Human | 1 | name |
| 402505119 | CV2902840 | single nucleotide variant | NM_004517.4(ILK):c.1356G>A (p.Lys452=) | Primary familial hypertrophic cardiomyopathy [RCV003509183] | likely benign | 11 | 6610608 | 6610608 | Human | 1 | name |
| 402506356 | CV2907612 | single nucleotide variant | NM_004517.4(ILK):c.1137A>T (p.Ala379=) | Primary familial hypertrophic cardiomyopathy [RCV003509316] | likely benign | 11 | 6610206 | 6610206 | Human | 1 | name |
| 402516426 | CV2933530 | single nucleotide variant | NM_004517.4(ILK):c.244A>G (p.Ile82Val) | Primary familial hypertrophic cardiomyopathy [RCV003510422] | uncertain significance | 11 | 6608200 | 6608200 | Human | 1 | name |
| 402467919 | CV3010685 | single nucleotide variant | NM_004517.4(ILK):c.1305G>A (p.Lys435=) | Primary familial hypertrophic cardiomyopathy [RCV003623303] | likely benign | 11 | 6610557 | 6610557 | Human | 1 | name |
| 405689341 | CV3390106 | single nucleotide variant | NM_004517.4(ILK):c.1068A>T (p.Val356=) | not specified [RCV004519027] | likely benign | 11 | 6610025 | 6610025 | Human | | name |
| 405689353 | CV3390109 | single nucleotide variant | NM_004517.4(ILK):c.1245A>G (p.Pro415=) | not specified [RCV004519030] | likely benign | 11 | 6610497 | 6610497 | Human | | name |
| 405689358 | CV3390110 | single nucleotide variant | NM_004517.4(ILK):c.173C>T (p.Ala58Val) | not specified [RCV004519031] | uncertain significance | 11 | 6608129 | 6608129 | Human | | name |
| 405689369 | CV3390112 | single nucleotide variant | NM_004517.4(ILK):c.199G>A (p.Asp67Asn) | not specified [RCV004519033] | uncertain significance | 11 | 6608155 | 6608155 | Human | | name |
| 407479568 | CV3444673 | single nucleotide variant | NM_004517.4(ILK):c.1182C>T (p.Asp394=) | not specified [RCV004628114] | likely benign | 11 | 6610251 | 6610251 | Human | | name |
| 597775442 | CV3686630 | single nucleotide variant | NM_004517.4(ILK):c.1344G>A (p.Lys448=) | not specified [RCV004929308] | likely benign | 11 | 6610596 | 6610596 | Human | | name |
| 597775220 | CV3686651 | single nucleotide variant | NM_004517.4(ILK):c.154A>G (p.Met52Val) | not specified [RCV004929329] | uncertain significance | 11 | 6608110 | 6608110 | Human | | name |
| 12846444 | CV371602 | single nucleotide variant | NM_004517.4(ILK):c.1296C>T (p.Asp432=) | Primary familial hypertrophic cardiomyopathy [RCV001451602]|not specified [RCV000441662] | likely benign | 11 | 6610548 | 6610548 | Human | 1 | name |
| 12838235 | CV372521 | single nucleotide variant | NM_004517.4(ILK):c.1197G>A (p.Glu399=) | Primary familial hypertrophic cardiomyopathy [RCV002521738]|not specified [RCV000426597] | likely benign | 11 | 6610266 | 6610266 | Human | 1 | name |
| 597844096 | CV3752567 | single nucleotide variant | NM_004517.4(ILK):c.1035A>G (p.Gln345=) | Primary familial hypertrophic cardiomyopathy [RCV005086973] | likely benign | 11 | 6609992 | 6609992 | Human | 1 | name |
| 597859687 | CV3769986 | single nucleotide variant | NM_004517.4(ILK):c.1068A>G (p.Val356=) | Primary familial hypertrophic cardiomyopathy [RCV005105837] | likely benign | 11 | 6610025 | 6610025 | Human | 1 | name |
| 597971395 | CV3802557 | single nucleotide variant | NM_004517.4(ILK):c.122C>T (p.Ala41Val) | Primary familial hypertrophic cardiomyopathy [RCV005142155] | uncertain significance | 11 | 6608078 | 6608078 | Human | 1 | name |
| 597948261 | CV3818270 | single nucleotide variant | NM_004517.4(ILK):c.163A>T (p.Met55Leu) | Primary familial hypertrophic cardiomyopathy [RCV005160531]|not specified [RCV005338574] | uncertain significance | 11 | 6608119 | 6608119 | Human | 1 | name |
| 597927538 | CV3836964 | single nucleotide variant | NM_004517.4(ILK):c.194G>T (p.Arg65Leu) | Primary familial hypertrophic cardiomyopathy [RCV005185315] | uncertain significance | 11 | 6608150 | 6608150 | Human | 1 | name |
| 597885718 | CV3854833 | single nucleotide variant | NM_004517.4(ILK):c.247G>T (p.Val83Leu) | Primary familial hypertrophic cardiomyopathy [RCV005199678] | uncertain significance | 11 | 6608203 | 6608203 | Human | 1 | name |
| 598180619 | CV3972385 | single nucleotide variant | NM_004517.4(ILK):c.193C>A (p.Arg65Ser) | not specified [RCV005352365] | uncertain significance | 11 | 6608149 | 6608149 | Human | | name |
| 598180648 | CV3972389 | single nucleotide variant | NM_004517.4(ILK):c.1230G>A (p.Arg410=) | not specified [RCV005352369] | likely benign | 11 | 6610482 | 6610482 | Human | | name |
| 12900687 | CV408424 | single nucleotide variant | NM_004517.4(ILK):c.277A>G (p.Ile93Val) | Primary familial hypertrophic cardiomyopathy [RCV002526513]|not provided [RCV000482953]|not specified [RCV004023107] | uncertain significance | 11 | 6608415 | 6608415 | Human | 1 | name |
| 13211574 | CV425939 | single nucleotide variant | NM_004517.4(ILK):c.130G>C (p.Glu44Gln) | ILK-related disorder [RCV003403155]|Primary familial hypertrophic cardiomyopathy [RCV000555076]|not provided [RCV000497634] | likely pathogenic|uncertain significance | 11 | 6608086 | 6608086 | Human | 2 | name , trait , alternate_id |
| 13212223 | CV425940 | single nucleotide variant | NM_004517.4(ILK):c.146T>C (p.Val49Ala) | Primary familial hypertrophic cardiomyopathy [RCV003621543]|not provided [RCV000498513] | uncertain significance | 11 | 6608102 | 6608102 | Human | 1 | name |
| 13482096 | CV461366 | single nucleotide variant | NM_004517.4(ILK):c.206C>T (p.Thr69Ile) | Primary familial hypertrophic cardiomyopathy [RCV000529247] | uncertain significance | 11 | 6608162 | 6608162 | Human | 1 | name |
| 13813963 | CV567459 | single nucleotide variant | NM_004517.4(ILK):c.223G>C (p.Ala75Pro) | Primary familial hypertrophic cardiomyopathy [RCV000690520] | uncertain significance | 11 | 6608179 | 6608179 | Human | 1 | name |
| 14719753 | CV640337 | single nucleotide variant | NM_004517.4(ILK):c.236A>T (p.His79Leu) | Primary familial hypertrophic cardiomyopathy [RCV000812749] | uncertain significance | 11 | 6608192 | 6608192 | Human | 1 | name |
| 15099797 | CV687813 | single nucleotide variant | NM_004517.4(ILK):c.1263G>T (p.Val421=) | Primary familial hypertrophic cardiomyopathy [RCV000869957]|not specified [RCV004027766] | likely benign | 11 | 6610515 | 6610515 | Human | 1 | name |
| 26885466 | CV838777 | single nucleotide variant | NM_004517.4(ILK):c.163A>G (p.Met55Val) | Primary familial hypertrophic cardiomyopathy [RCV001053599] | uncertain significance | 11 | 6608119 | 6608119 | Human | 1 | name |
| 26902592 | CV838778 | single nucleotide variant | NM_004517.4(ILK):c.169G>A (p.Gly57Arg) | Primary familial hypertrophic cardiomyopathy [RCV001069447] | uncertain significance | 11 | 6608125 | 6608125 | Human | 1 | name |
| 26919382 | CV838779 | single nucleotide variant | NM_004517.4(ILK):c.193C>T (p.Arg65Cys) | Primary familial hypertrophic cardiomyopathy [RCV001045425] | uncertain significance | 11 | 6608149 | 6608149 | Human | 1 | name |
| 38462139 | CV935693 | single nucleotide variant | NM_004517.4(ILK):c.296A>C (p.His99Pro) | Primary familial hypertrophic cardiomyopathy [RCV001212152] | uncertain significance | 11 | 6608434 | 6608434 | Human | 1 | name |
| 8689315 | CV97402 | single nucleotide variant | NM_004517.4(ILK):c.1020C>T (p.Val340=) | not provided [RCV000122481] | uncertain significance | 11 | 6609977 | 6609977 | Human | | name |
| 126771335 | CV1009847 | single nucleotide variant | NM_004517.4(ILK):c.586C>G (p.Leu196Val) | Primary familial hypertrophic cardiomyopathy [RCV001323102] | uncertain significance | 11 | 6609124 | 6609124 | Human | 1 | name |
| 126769259 | CV1009848 | single nucleotide variant | NM_004517.4(ILK):c.673C>T (p.Arg225Ter) | Primary familial hypertrophic cardiomyopathy [RCV001321849] | uncertain significance | 11 | 6609353 | 6609353 | Human | 1 | name |
| 126740684 | CV1009849 | single nucleotide variant | NM_004517.4(ILK):c.958C>G (p.Leu320Val) | ILK-related disorder [RCV003416192]|Primary familial hypertrophic cardiomyopathy [RCV001314416] | uncertain significance | 11 | 6609825 | 6609825 | Human | 2 | name , trait , alternate_id |
| 126757115 | CV1030406 | single nucleotide variant | NM_004517.4(ILK):c.636G>T (p.Trp212Cys) | Primary familial hypertrophic cardiomyopathy [RCV001339475]|not specified [RCV004927694] | uncertain significance | 11 | 6609316 | 6609316 | Human | 1 | name |
| 126746422 | CV1030407 | single nucleotide variant | NM_004517.4(ILK):c.766G>A (p.Ala256Thr) | Primary familial hypertrophic cardiomyopathy [RCV001337324] | uncertain significance | 11 | 6609549 | 6609549 | Human | 1 | name |
| 126772824 | CV1030408 | single nucleotide variant | NM_004517.4(ILK):c.968G>A (p.Arg323His) | Primary familial hypertrophic cardiomyopathy [RCV001345837]|not specified [RCV004036467] | uncertain significance | 11 | 6609835 | 6609835 | Human | 1 | name |
| 126924358 | CV1047391 | single nucleotide variant | NM_004517.4(ILK):c.674G>A (p.Arg225Gln) | Primary familial hypertrophic cardiomyopathy [RCV001366941] | uncertain significance | 11 | 6609354 | 6609354 | Human | 1 | name |
| 126922800 | CV1047392 | single nucleotide variant | NM_004517.4(ILK):c.958C>A (p.Leu320Ile) | Primary familial hypertrophic cardiomyopathy [RCV001365097]|not specified [RCV004036933] | uncertain significance | 11 | 6609825 | 6609825 | Human | 1 | name |
| 127233405 | CV1078511 | single nucleotide variant | NM_004517.4(ILK):c.818C>G (p.Pro273Arg) | Primary familial hypertrophic cardiomyopathy [RCV001413866] | likely benign | 11 | 6609601 | 6609601 | Human | 1 | name |
| 150332963 | CV1164400 | single nucleotide variant | NM_004517.4(ILK):c.551A>C (p.Lys184Thr) | Primary familial hypertrophic cardiomyopathy [RCV005094723]|not provided [RCV001528579]|not specified [RCV004039194] | uncertain significance | 11 | 6609089 | 6609089 | Human | 1 | name |
| 150334493 | CV1164401 | single nucleotide variant | NM_004517.4(ILK):c.721C>T (p.Arg241Trp) | Primary familial hypertrophic cardiomyopathy [RCV001873743]|not provided [RCV001529662] | uncertain significance | 11 | 6609401 | 6609401 | Human | 1 | name |
| 150520792 | CV1289908 | single nucleotide variant | NM_004517.4(ILK):c.647A>G (p.Asp216Gly) | Primary familial hypertrophic cardiomyopathy [RCV003509681]|not provided [RCV001730284] | uncertain significance | 11 | 6609327 | 6609327 | Human | 1 | name |
| 151781116 | CV1363947 | single nucleotide variant | NM_004517.4(ILK):c.836A>G (p.Asn279Ser) | Primary familial hypertrophic cardiomyopathy [RCV001864971] | uncertain significance | 11 | 6609619 | 6609619 | Human | 1 | name |
| 151837378 | CV1383252 | single nucleotide variant | NM_004517.4(ILK):c.352G>A (p.Asp118Asn) | Primary familial hypertrophic cardiomyopathy [RCV001935701] | uncertain significance | 11 | 6608694 | 6608694 | Human | 1 | name |
| 151851426 | CV1386154 | single nucleotide variant | NM_004517.4(ILK):c.370G>T (p.Ala124Ser) | Primary familial hypertrophic cardiomyopathy [RCV001937404] | uncertain significance | 11 | 6608712 | 6608712 | Human | 1 | name |
| 151825622 | CV1392117 | single nucleotide variant | NM_004517.4(ILK):c.656T>A (p.Val219Glu) | Primary familial hypertrophic cardiomyopathy [RCV001879628] | uncertain significance | 11 | 6609336 | 6609336 | Human | 1 | name |
| 151790714 | CV1397300 | single nucleotide variant | NM_004517.4(ILK):c.862G>A (p.Val288Ile) | Primary familial hypertrophic cardiomyopathy [RCV001952021]|not specified [RCV004043613] | uncertain significance | 11 | 6609729 | 6609729 | Human | 1 | name |
| 151740194 | CV1412880 | single nucleotide variant | NM_004517.4(ILK):c.436G>C (p.Glu146Gln) | Primary familial hypertrophic cardiomyopathy [RCV001926392] | uncertain significance | 11 | 6608778 | 6608778 | Human | 1 | name |
| 151777351 | CV1454121 | single nucleotide variant | NM_004517.4(ILK):c.481C>T (p.Arg161Cys) | Primary familial hypertrophic cardiomyopathy [RCV001896916]|not specified [RCV004042537] | uncertain significance | 11 | 6608916 | 6608916 | Human | 1 | name |
| 151731318 | CV1457983 | single nucleotide variant | NM_004517.4(ILK):c.613G>A (p.Gly205Arg) | Primary familial hypertrophic cardiomyopathy [RCV001967139]|not specified [RCV004041882] | uncertain significance | 11 | 6609151 | 6609151 | Human | 1 | name |
| 151866812 | CV1468798 | single nucleotide variant | NM_004517.4(ILK):c.395A>G (p.Tyr132Cys) | Primary familial hypertrophic cardiomyopathy [RCV002018447] | uncertain significance | 11 | 6608737 | 6608737 | Human | 1 | name |
| 151780126 | CV1473992 | single nucleotide variant | NM_004517.4(ILK):c.695G>A (p.Ser232Asn) | Primary familial hypertrophic cardiomyopathy [RCV001864884] | uncertain significance | 11 | 6609375 | 6609375 | Human | 1 | name |
| 151870900 | CV1488644 | single nucleotide variant | NM_004517.4(ILK):c.373C>G (p.Leu125Val) | Primary familial hypertrophic cardiomyopathy [RCV002035652]|not specified [RCV004045942] | uncertain significance | 11 | 6608715 | 6608715 | Human | 1 | name |
| 151738236 | CV1500673 | single nucleotide variant | NM_004517.4(ILK):c.590C>T (p.Thr197Met) | ILK-related cardiomyopathy [RCV003448436]|Primary familial hypertrophic cardiomyopathy [RCV001984975] | uncertain significance | 11 | 6609128 | 6609128 | Human | 2 | name , trait |
| 151849213 | CV1510800 | single nucleotide variant | NM_004517.4(ILK):c.422A>G (p.Lys141Arg) | Primary familial hypertrophic cardiomyopathy [RCV001957747]|not specified [RCV004043019] | uncertain significance | 11 | 6608764 | 6608764 | Human | 1 | name |
| 9586843 | CV165551 | single nucleotide variant | NM_004517.4(ILK):c.631C>T (p.Arg211Cys) | ILK-related disorder [RCV003905245]|Primary familial hypertrophic cardiomyopathy [RCV000143901]|not provided [RCV001529362]|not specified [RCV000183461] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 6609311 | 6609311 | Human | 2 | name , trait , alternate_id |
| 152033800 | CV1669044 | single nucleotide variant | NM_004517.4(ILK):c.764G>T (p.Gly255Val) | not provided [RCV002223388] | uncertain significance | 11 | 6609547 | 6609547 | Human | | name |
| 155641369 | CV1709731 | single nucleotide variant | NM_004517.4(ILK):c.887A>C (p.Lys296Thr) | not provided [RCV002292831] | uncertain significance | 11 | 6609754 | 6609754 | Human | | name |
| 9832375 | CV178648 | single nucleotide variant | NM_004517.4(ILK):c.962A>G (p.Asn321Ser) | Primary familial hypertrophic cardiomyopathy [RCV000157247]|not specified [RCV004019896] | uncertain significance | 11 | 6609829 | 6609829 | Human | 1 | name |
| 155744575 | CV1793204 | single nucleotide variant | NM_004517.4(ILK):c.364A>T (p.Asn122Tyr) | Primary familial hypertrophic cardiomyopathy [RCV003102416]|not specified [RCV004049569] | uncertain significance | 11 | 6608706 | 6608706 | Human | 1 | name |
| 155695960 | CV1796967 | single nucleotide variant | NM_004517.4(ILK):c.394T>G (p.Tyr132Asp) | Primary familial hypertrophic cardiomyopathy [RCV003621627]|not specified [RCV004050464] | uncertain significance | 11 | 6608736 | 6608736 | Human | 1 | name |
| 155734614 | CV1797692 | single nucleotide variant | NM_004517.4(ILK):c.427C>A (p.Pro143Thr) | Primary familial hypertrophic cardiomyopathy [RCV003094620]|not specified [RCV004049898] | uncertain significance | 11 | 6608769 | 6608769 | Human | 1 | name |
| 155739704 | CV1799145 | single nucleotide variant | NM_004517.4(ILK):c.493A>G (p.Lys165Glu) | not specified [RCV004050259] | uncertain significance | 11 | 6608928 | 6608928 | Human | | name |
| 155723430 | CV1799308 | single nucleotide variant | NM_004517.4(ILK):c.515C>A (p.Thr172Asn) | not specified [RCV004051103] | uncertain significance | 11 | 6608950 | 6608950 | Human | | name |
| 155724910 | CV1804747 | single nucleotide variant | NM_004517.4(ILK):c.655G>A (p.Val219Met) | Primary familial hypertrophic cardiomyopathy [RCV003098289]|not specified [RCV004054401] | uncertain significance | 11 | 6609335 | 6609335 | Human | 1 | name |
| 155721510 | CV1805561 | single nucleotide variant | NM_004517.4(ILK):c.482G>A (p.Arg161His) | Primary familial hypertrophic cardiomyopathy [RCV003775973]|not specified [RCV004052203] | uncertain significance | 11 | 6608917 | 6608917 | Human | 1 | name |
| 155736692 | CV1808963 | single nucleotide variant | NM_004517.4(ILK):c.475C>G (p.Leu159Val) | Primary familial hypertrophic cardiomyopathy [RCV003621632]|not specified [RCV004052078] | uncertain significance | 11 | 6608910 | 6608910 | Human | 1 | name |
| 155719519 | CV1809164 | single nucleotide variant | NM_004517.4(ILK):c.478A>G (p.Asn160Asp) | not specified [RCV004052135] | uncertain significance | 11 | 6608913 | 6608913 | Human | | name |
| 155747231 | CV1816786 | single nucleotide variant | NM_004517.4(ILK):c.790C>T (p.His264Tyr) | Primary familial hypertrophic cardiomyopathy [RCV003099782]|not specified [RCV004054776] | uncertain significance | 11 | 6609573 | 6609573 | Human | 1 | name |
| 155677028 | CV1818787 | single nucleotide variant | NM_004517.4(ILK):c.679T>A (p.Trp227Arg) | Primary familial hypertrophic cardiomyopathy [RCV003509728]|not specified [RCV004052819] | uncertain significance | 11 | 6609359 | 6609359 | Human | 1 | name |
| 155674129 | CV1820361 | single nucleotide variant | NM_004517.4(ILK):c.815T>G (p.Met272Arg) | Primary familial hypertrophic cardiomyopathy [RCV003099851]|not specified [RCV004055505] | uncertain significance | 11 | 6609598 | 6609598 | Human | 1 | name |
| 155674461 | CV1820408 | single nucleotide variant | NM_004517.4(ILK):c.816G>A (p.Met272Ile) | not specified [RCV004055516] | uncertain significance | 11 | 6609599 | 6609599 | Human | | name |
| 155697558 | CV1820477 | single nucleotide variant | NM_004517.4(ILK):c.818C>A (p.Pro273Gln) | Primary familial hypertrophic cardiomyopathy [RCV005097201]|not specified [RCV004055526] | uncertain significance | 11 | 6609601 | 6609601 | Human | 1 | name |
| 155700731 | CV1821132 | single nucleotide variant | NM_004517.4(ILK):c.901A>T (p.Met301Leu) | not specified [RCV004054933] | uncertain significance | 11 | 6609768 | 6609768 | Human | | name |
| 156015594 | CV1885174 | single nucleotide variant | NM_004517.4(ILK):c.865G>A (p.Val289Met) | Primary familial hypertrophic cardiomyopathy [RCV003077342] | uncertain significance | 11 | 6609732 | 6609732 | Human | 1 | name |
| 156133420 | CV1885691 | single nucleotide variant | NM_004517.4(ILK):c.518C>T (p.Thr173Ile) | Primary familial hypertrophic cardiomyopathy [RCV003081927]|not specified [RCV004927876] | uncertain significance | 11 | 6608953 | 6608953 | Human | 1 | name |
| 156406804 | CV1891357 | single nucleotide variant | NM_004517.4(ILK):c.649A>T (p.Ile217Phe) | Primary familial hypertrophic cardiomyopathy [RCV003070503] | uncertain significance | 11 | 6609329 | 6609329 | Human | 1 | name |
| 156386603 | CV1891899 | single nucleotide variant | NM_004517.4(ILK):c.794C>T (p.Pro265Leu) | Primary familial hypertrophic cardiomyopathy [RCV003067610] | uncertain significance | 11 | 6609577 | 6609577 | Human | 1 | name |
| 156387056 | CV1891970 | single nucleotide variant | NM_004517.4(ILK):c.377T>C (p.Val126Ala) | Primary familial hypertrophic cardiomyopathy [RCV003067648] | uncertain significance | 11 | 6608719 | 6608719 | Human | 1 | name |
| 156408321 | CV1911561 | single nucleotide variant | NM_004517.4(ILK):c.961A>G (p.Asn321Asp) | Primary familial hypertrophic cardiomyopathy [RCV002607192] | uncertain significance | 11 | 6609828 | 6609828 | Human | 1 | name |
| 156446210 | CV1951244 | single nucleotide variant | NM_004517.4(ILK):c.410T>C (p.Val137Ala) | Primary familial hypertrophic cardiomyopathy [RCV003117177]|not specified [RCV004245958] | uncertain significance | 11 | 6608752 | 6608752 | Human | 1 | name |
| 10055781 | CV198366 | single nucleotide variant | NM_004517.4(ILK):c.435A>C (p.Arg145Ser) | ILK-related disorder [RCV003907639]|Primary familial hypertrophic cardiomyopathy [RCV000472252]|not specified [RCV000183454] | benign|likely benign | 11 | 6608777 | 6608777 | Human | 2 | name , trait , alternate_id |
| 10055787 | CV198368 | single nucleotide variant | NM_004517.4(ILK):c.669G>T (p.Lys223Asn) | Primary familial hypertrophic cardiomyopathy [RCV001088134]|not provided [RCV000183462] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 6609349 | 6609349 | Human | 1 | name |
| 156241284 | CV1996374 | single nucleotide variant | NM_004517.4(ILK):c.520C>T (p.Arg174Cys) | Primary familial hypertrophic cardiomyopathy [RCV002667935]|not provided [RCV003491138] | uncertain significance | 11 | 6608955 | 6608955 | Human | 1 | name |
| 156061296 | CV2008275 | single nucleotide variant | NM_004517.4(ILK):c.707A>T (p.Asn236Ile) | Primary familial hypertrophic cardiomyopathy [RCV002705395] | uncertain significance | 11 | 6609387 | 6609387 | Human | 1 | name |
| 156351021 | CV2018878 | single nucleotide variant | NM_004517.4(ILK):c.532C>T (p.Arg178Ter) | Primary familial hypertrophic cardiomyopathy [RCV002720181] | uncertain significance | 11 | 6608967 | 6608967 | Human | 1 | name |
| 155996563 | CV2109455 | single nucleotide variant | NM_004517.4(ILK):c.641G>A (p.Gly214Asp) | Primary familial hypertrophic cardiomyopathy [RCV002947587] | uncertain significance | 11 | 6609321 | 6609321 | Human | 1 | name |
| 156327045 | CV2170449 | single nucleotide variant | NM_004517.4(ILK):c.619C>G (p.Leu207Val) | Primary familial hypertrophic cardiomyopathy [RCV003029550] | uncertain significance | 11 | 6609299 | 6609299 | Human | 1 | name |
| 156170048 | CV2184963 | single nucleotide variant | NM_004517.4(ILK):c.700G>A (p.Asp234Asn) | Primary familial hypertrophic cardiomyopathy [RCV003057192] | uncertain significance | 11 | 6609380 | 6609380 | Human | 1 | name |
| 156278637 | CV2188529 | single nucleotide variant | NM_004517.4(ILK):c.581A>C (p.Asn194Thr) | Primary familial hypertrophic cardiomyopathy [RCV003044704] | uncertain significance | 11 | 6609119 | 6609119 | Human | 1 | name |
| 155981789 | CV2233116 | single nucleotide variant | NM_004517.4(ILK):c.556T>C (p.Ser186Pro) | not specified [RCV004103732] | uncertain significance | 11 | 6609094 | 6609094 | Human | | name |
| 11040131 | CV224434 | single nucleotide variant | NM_004517.4(ILK):c.446G>A (p.Arg149Gln) | Long QT syndrome [RCV000208422]|Primary familial hypertrophic cardiomyopathy [RCV001211006]|not provided [RCV000520010]|not specified [RCV004020557] | uncertain significance | 11 | 6608788 | 6608788 | Human | 3 | name |
| 11040279 | CV224435 | single nucleotide variant | NM_004517.4(ILK):c.734T>A (p.Phe245Tyr) | Primary dilated cardiomyopathy [RCV000208000]|Primary familial hypertrophic cardiomyopathy [RCV005055735] | uncertain significance | 11 | 6609517 | 6609517 | Human | 2 | name |
| 11089025 | CV230225 | single nucleotide variant | NM_004517.4(ILK):c.778C>T (p.Pro260Ser) | Primary familial hypertrophic cardiomyopathy [RCV000692720]|not specified [RCV000214294] | uncertain significance | 11 | 6609561 | 6609561 | Human | 1 | name |
| 156070041 | CV2325040 | single nucleotide variant | NM_004517.4(ILK):c.792T>A (p.His264Gln) | not specified [RCV004175585] | uncertain significance | 11 | 6609575 | 6609575 | Human | | name |
| 329383258 | CV2422145 | single nucleotide variant | NM_004517.4(ILK):c.644A>G (p.Asn215Ser) | not specified [RCV004246236] | uncertain significance | 11 | 6609324 | 6609324 | Human | | name |
| 329379784 | CV2429939 | single nucleotide variant | NM_004517.4(ILK):c.713A>T (p.Glu238Val) | not specified [RCV004245083] | uncertain significance | 11 | 6609393 | 6609393 | Human | | name |
| 329379787 | CV2429940 | single nucleotide variant | NM_004517.4(ILK):c.758T>C (p.Val253Ala) | Primary familial hypertrophic cardiomyopathy [RCV003621686]|not specified [RCV004245084] | uncertain significance | 11 | 6609541 | 6609541 | Human | 1 | name |
| 329401119 | CV2446151 | single nucleotide variant | NM_004517.4(ILK):c.440T>C (p.Leu147Pro) | not specified [RCV004264563] | uncertain significance | 11 | 6608782 | 6608782 | Human | | name |
| 401745159 | CV2728880 | single nucleotide variant | NM_004517.4(ILK):c.610T>G (p.Ser204Ala) | Primary familial hypertrophic cardiomyopathy [RCV003621695]|not specified [RCV004331673] | uncertain significance | 11 | 6609148 | 6609148 | Human | 1 | name |
| 401865422 | CV2778746 | single nucleotide variant | NM_004517.4(ILK):c.560G>T (p.Gly187Val) | not specified [RCV004346655] | uncertain significance | 11 | 6609098 | 6609098 | Human | | name |
| 401886043 | CV2790247 | single nucleotide variant | NM_004517.4(ILK):c.686C>T (p.Thr229Ile) | not specified [RCV004364354] | uncertain significance | 11 | 6609366 | 6609366 | Human | | name |
| 402524707 | CV2885101 | single nucleotide variant | NM_004517.4(ILK):c.527G>A (p.Arg176Gln) | Primary familial hypertrophic cardiomyopathy [RCV003511123] | uncertain significance | 11 | 6608962 | 6608962 | Human | 1 | name |
| 402525110 | CV2888462 | single nucleotide variant | NM_004517.4(ILK):c.542C>T (p.Thr181Ile) | Primary familial hypertrophic cardiomyopathy [RCV003511154] | uncertain significance | 11 | 6609080 | 6609080 | Human | 1 | name |
| 402506193 | CV2901185 | single nucleotide variant | NM_004517.4(ILK):c.529C>T (p.Pro177Ser) | Primary familial hypertrophic cardiomyopathy [RCV003509297] | uncertain significance | 11 | 6608964 | 6608964 | Human | 1 | name |
| 402464857 | CV2971515 | single nucleotide variant | NM_004517.4(ILK):c.958C>T (p.Leu320Phe) | Primary familial hypertrophic cardiomyopathy [RCV003622537] | uncertain significance | 11 | 6609825 | 6609825 | Human | 1 | name |
| 402466606 | CV2995326 | single nucleotide variant | NM_004517.4(ILK):c.944T>C (p.Ile315Thr) | Primary familial hypertrophic cardiomyopathy [RCV003622958] | uncertain significance | 11 | 6609811 | 6609811 | Human | 1 | name |
| 402469131 | CV3041626 | single nucleotide variant | NM_004517.4(ILK):c.995C>T (p.Thr332Ile) | Primary familial hypertrophic cardiomyopathy [RCV003623625]|not specified [RCV004927935] | uncertain significance | 11 | 6609952 | 6609952 | Human | 1 | name |
| 402475200 | CV3172713 | single nucleotide variant | NM_004517.4(ILK):c.838G>A (p.Val280Ile) | Primary familial hypertrophic cardiomyopathy [RCV003875131] | uncertain significance | 11 | 6609621 | 6609621 | Human | 1 | name |
| 405805344 | CV3271305 | single nucleotide variant | NM_004517.4(ILK):c.650T>C (p.Ile217Thr) | Primary familial hypertrophic cardiomyopathy [RCV005104478]|not specified [RCV004405366] | uncertain significance | 11 | 6609330 | 6609330 | Human | 1 | name |
| 405689374 | CV3390113 | single nucleotide variant | NM_004517.4(ILK):c.472A>T (p.Asn158Tyr) | not specified [RCV004519034] | uncertain significance | 11 | 6608907 | 6608907 | Human | | name |
| 405689383 | CV3390115 | single nucleotide variant | NM_004517.4(ILK):c.818C>T (p.Pro273Leu) | not specified [RCV004519036] | uncertain significance | 11 | 6609601 | 6609601 | Human | | name |
| 405689393 | CV3390117 | single nucleotide variant | NM_004517.4(ILK):c.953A>T (p.His318Leu) | not specified [RCV004519038] | uncertain significance | 11 | 6609820 | 6609820 | Human | | name |
| 407479563 | CV3444672 | single nucleotide variant | NM_004517.4(ILK):c.943A>G (p.Ile315Val) | not specified [RCV004628113] | uncertain significance | 11 | 6609810 | 6609810 | Human | | name |
| 407479572 | CV3444674 | single nucleotide variant | NM_004517.4(ILK):c.869A>C (p.Asp290Ala) | not specified [RCV004628115] | uncertain significance | 11 | 6609736 | 6609736 | Human | | name |
| 407479577 | CV3444675 | single nucleotide variant | NM_004517.4(ILK):c.439C>T (p.Leu147Phe) | not specified [RCV004628116] | uncertain significance | 11 | 6608781 | 6608781 | Human | | name |
| 12741323 | CV359902 | single nucleotide variant | NM_004517.4(ILK):c.601G>A (p.Glu201Lys) | Primary familial hypertrophic cardiomyopathy [RCV000811938]|not specified [RCV000414750] | uncertain significance | 11 | 6609139 | 6609139 | Human | 1 | name |
| 597775135 | CV3686629 | single nucleotide variant | NM_004517.4(ILK):c.515C>T (p.Thr172Ile) | Primary familial hypertrophic cardiomyopathy [RCV005110375]|not specified [RCV004929307] | uncertain significance | 11 | 6608950 | 6608950 | Human | 1 | name |
| 597775160 | CV3686635 | single nucleotide variant | NM_004517.4(ILK):c.781C>T (p.Pro261Ser) | not specified [RCV004929313] | uncertain significance | 11 | 6609564 | 6609564 | Human | | name |
| 597775201 | CV3686646 | single nucleotide variant | NM_004517.4(ILK):c.595C>T (p.Leu199Phe) | not specified [RCV004929324] | uncertain significance | 11 | 6609133 | 6609133 | Human | | name |
| 597963346 | CV3753919 | single nucleotide variant | NM_004517.4(ILK):c.628G>A (p.Gly210Ser) | Primary familial hypertrophic cardiomyopathy [RCV005082223] | uncertain significance | 11 | 6609308 | 6609308 | Human | 1 | name |
| 597930651 | CV3789363 | single nucleotide variant | NM_004517.4(ILK):c.880G>A (p.Ala294Thr) | Primary familial hypertrophic cardiomyopathy [RCV005131644] | uncertain significance | 11 | 6609747 | 6609747 | Human | 1 | name |
| 597971072 | CV3802429 | single nucleotide variant | NM_004517.4(ILK):c.638A>G (p.Gln213Arg) | Primary familial hypertrophic cardiomyopathy [RCV005142027] | uncertain significance | 11 | 6609318 | 6609318 | Human | 1 | name |
| 597965544 | CV3823539 | single nucleotide variant | NM_004517.4(ILK):c.952C>T (p.His318Tyr) | Primary familial hypertrophic cardiomyopathy [RCV005164959] | uncertain significance | 11 | 6609819 | 6609819 | Human | 1 | name |
| 597850690 | CV3824610 | single nucleotide variant | NM_004517.4(ILK):c.688A>G (p.Arg230Gly) | Primary familial hypertrophic cardiomyopathy [RCV005173649] | uncertain significance | 11 | 6609368 | 6609368 | Human | 1 | name |
| 597930545 | CV3826981 | duplication | NM_004517.4(ILK):c.1225dup (p.Leu409fs) | Primary familial hypertrophic cardiomyopathy [RCV005156994] | uncertain significance | 11 | 6610475 | 6610476 | Human | 1 | name |
| 597939305 | CV3836410 | single nucleotide variant | NM_004517.4(ILK):c.679T>C (p.Trp227Arg) | Primary familial hypertrophic cardiomyopathy [RCV005187431] | uncertain significance | 11 | 6609359 | 6609359 | Human | 1 | name |
| 597906353 | CV3853439 | single nucleotide variant | NM_004517.4(ILK):c.562A>G (p.Ile188Val) | Primary familial hypertrophic cardiomyopathy [RCV005202917] | uncertain significance | 11 | 6609100 | 6609100 | Human | 1 | name |
| 598180612 | CV3972384 | single nucleotide variant | NM_004517.4(ILK):c.714G>C (p.Glu238Asp) | not specified [RCV005352364] | uncertain significance | 11 | 6609394 | 6609394 | Human | | name |
| 598207804 | CV3972391 | single nucleotide variant | NM_004517.4(ILK):c.382A>T (p.Ile128Phe) | not specified [RCV005338030] | uncertain significance | 11 | 6608724 | 6608724 | Human | | name |
| 598207810 | CV3972392 | single nucleotide variant | NM_004517.4(ILK):c.600C>G (p.Asn200Lys) | not specified [RCV005338031] | uncertain significance | 11 | 6609138 | 6609138 | Human | | name |
| 13485056 | CV444861 | single nucleotide variant | NM_004517.4(ILK):c.458A>G (p.Glu153Gly) | Primary familial hypertrophic cardiomyopathy [RCV005091209]|not provided [RCV001574022] | likely benign|uncertain significance | 11 | 6608893 | 6608893 | Human | 1 | name |
| 13479220 | CV444862 | single nucleotide variant | NM_004517.4(ILK):c.707A>G (p.Asn236Ser) | Primary familial hypertrophic cardiomyopathy [RCV001084716]|not provided [RCV000757407] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 6609387 | 6609387 | Human | 1 | name |
| 13470790 | CV461893 | single nucleotide variant | NM_004517.4(ILK):c.337G>T (p.Asp113Tyr) | Primary familial hypertrophic cardiomyopathy [RCV000546414] | uncertain significance | 11 | 6608475 | 6608475 | Human | 1 | name |
| 13536517 | CV497395 | single nucleotide variant | NM_004517.4(ILK):c.632G>A (p.Arg211His) | Primary familial hypertrophic cardiomyopathy [RCV001236813]|not specified [RCV000609112] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 6609312 | 6609312 | Human | 1 | name |
| 13535108 | CV510336 | single nucleotide variant | NM_004517.4(ILK):c.503T>G (p.Phe168Cys) | Cardiovascular phenotype [RCV000619469]|Primary familial hypertrophic cardiomyopathy [RCV001506166] | likely benign|uncertain significance | 11 | 6608938 | 6608938 | Human | 2 | name |
| 13529477 | CV510337 | single nucleotide variant | NM_004517.4(ILK):c.521G>A (p.Arg174His) | Cardiovascular phenotype [RCV000621572]|Primary familial hypertrophic cardiomyopathy [RCV001351095] | uncertain significance | 11 | 6608956 | 6608956 | Human | 2 | name |
| 13606721 | CV526700 | single nucleotide variant | NM_004517.4(ILK):c.504C>G (p.Phe168Leu) | Primary familial hypertrophic cardiomyopathy [RCV000638616] | uncertain significance | 11 | 6608939 | 6608939 | Human | 1 | name |
| 13606719 | CV526945 | single nucleotide variant | NM_004517.4(ILK):c.580A>G (p.Asn194Asp) | Primary familial hypertrophic cardiomyopathy [RCV000638614]|not specified [RCV004025518] | uncertain significance | 11 | 6609118 | 6609118 | Human | 1 | name |
| 8572427 | CV59494 | single nucleotide variant | NM_004517.4(ILK):c.785C>T (p.Ala262Val) | Variant of unknown significance [RCV000043520] | uncertain significance | 11 | 6609568 | 6609568 | Human | | name |
| 14696461 | CV623069 | single nucleotide variant | NM_004517.4(ILK):c.386G>C (p.Cys129Ser) | not provided [RCV000786321] | uncertain significance | 11 | 6608728 | 6608728 | Human | | name |
| 14745084 | CV640338 | single nucleotide variant | NM_004517.4(ILK):c.466G>A (p.Gly156Ser) | Primary familial hypertrophic cardiomyopathy [RCV000824494]|not provided [RCV001528263]|not specified [RCV004029180] | likely benign|uncertain significance | 11 | 6608901 | 6608901 | Human | 1 | name |
| 26898027 | CV838780 | single nucleotide variant | NM_004517.4(ILK):c.428C>T (p.Pro143Leu) | Primary familial hypertrophic cardiomyopathy [RCV001066281] | uncertain significance | 11 | 6608770 | 6608770 | Human | 1 | name |
| 26886197 | CV838781 | single nucleotide variant | NM_004517.4(ILK):c.452G>A (p.Arg151Gln) | Primary familial hypertrophic cardiomyopathy [RCV001054638] | uncertain significance | 11 | 6608887 | 6608887 | Human | 1 | name |
| 26904869 | CV838782 | single nucleotide variant | NM_004517.4(ILK):c.614G>A (p.Gly205Glu) | Primary familial hypertrophic cardiomyopathy [RCV001071240]|not specified [RCV004629445] | likely benign|uncertain significance | 11 | 6609152 | 6609152 | Human | 1 | name |
| 38462882 | CV919383 | single nucleotide variant | NM_004517.4(ILK):c.879G>C (p.Gln293His) | See cases [RCV001198754] | uncertain significance | 11 | 6609746 | 6609746 | Human | | name |
| 38482083 | CV935694 | single nucleotide variant | NM_004517.4(ILK):c.799C>G (p.Leu267Val) | Primary familial hypertrophic cardiomyopathy [RCV001207142] | uncertain significance | 11 | 6609582 | 6609582 | Human | 1 | name |
| 38498049 | CV947585 | single nucleotide variant | NM_004517.4(ILK):c.757G>C (p.Val253Leu) | Primary familial hypertrophic cardiomyopathy [RCV001227385] | uncertain significance | 11 | 6609540 | 6609540 | Human | 1 | name |
| 38494494 | CV956589 | single nucleotide variant | NM_004517.4(ILK):c.451C>T (p.Arg151Trp) | Primary familial hypertrophic cardiomyopathy [RCV001241344]|not specified [RCV004927680] | uncertain significance | 11 | 6608886 | 6608886 | Human | 1 | name |
| 126769865 | CV1009850 | single nucleotide variant | NM_004517.4(ILK):c.1307G>A (p.Arg436Gln) | Primary familial hypertrophic cardiomyopathy [RCV001322222] | uncertain significance | 11 | 6610559 | 6610559 | Human | 1 | name |
| 126772463 | CV1030409 | single nucleotide variant | NM_004517.4(ILK):c.1331C>A (p.Pro444His) | Primary familial hypertrophic cardiomyopathy [RCV001345628]|not specified [RCV005348456] | uncertain significance | 11 | 6610583 | 6610583 | Human | 1 | name |
| 126918904 | CV1047393 | single nucleotide variant | NM_004517.4(ILK):c.1301C>A (p.Ala434Glu) | Primary familial hypertrophic cardiomyopathy [RCV001372928] | uncertain significance | 11 | 6610553 | 6610553 | Human | 1 | name |
| 126923681 | CV1047394 | single nucleotide variant | NM_004517.4(ILK):c.1322T>G (p.Met441Arg) | Primary familial hypertrophic cardiomyopathy [RCV001366129] | uncertain significance | 11 | 6610574 | 6610574 | Human | 1 | name |
| 150553893 | CV1309024 | single nucleotide variant | NM_004517.4(ILK):c.1066G>A (p.Val356Ile) | Primary familial hypertrophic cardiomyopathy [RCV002074033]|not provided [RCV001769937]|not specified [RCV004631742] | likely benign | 11 | 6610023 | 6610023 | Human | 1 | name |
| 151892258 | CV1337579 | single nucleotide variant | NM_004517.4(ILK):c.1111C>T (p.Arg371Cys) | Primary familial hypertrophic cardiomyopathy [RCV001943925]|not specified [RCV004044141] | uncertain significance | 11 | 6610180 | 6610180 | Human | 1 | name |
| 151738949 | CV1379280 | single nucleotide variant | NM_004517.4(ILK):c.1086G>C (p.Gln362His) | Primary familial hypertrophic cardiomyopathy [RCV001911736]|not provided [RCV002224110] | uncertain significance | 11 | 6610155 | 6610155 | Human | 1 | name |
| 151732258 | CV1390135 | single nucleotide variant | NM_004517.4(ILK):c.1270C>G (p.Leu424Val) | Primary familial hypertrophic cardiomyopathy [RCV001911001] | uncertain significance | 11 | 6610522 | 6610522 | Human | 1 | name |
| 151745147 | CV1400990 | single nucleotide variant | NM_004517.4(ILK):c.1214C>T (p.Ala405Val) | Primary familial hypertrophic cardiomyopathy [RCV002022732] | uncertain significance | 11 | 6610466 | 6610466 | Human | 1 | name |
| 151856225 | CV1449024 | single nucleotide variant | NM_004517.4(ILK):c.1347G>A (p.Met449Ile) | Primary familial hypertrophic cardiomyopathy [RCV001979554] | uncertain significance | 11 | 6610599 | 6610599 | Human | 1 | name |
| 151752921 | CV1457501 | single nucleotide variant | NM_004517.4(ILK):c.1046G>T (p.Arg349Leu) | Primary familial hypertrophic cardiomyopathy [RCV001913168] | uncertain significance | 11 | 6610003 | 6610003 | Human | 1 | name |
| 151791687 | CV1486256 | single nucleotide variant | NM_004517.4(ILK):c.1022A>G (p.Lys341Arg) | Primary familial hypertrophic cardiomyopathy [RCV002047169] | uncertain significance | 11 | 6609979 | 6609979 | Human | 1 | name |
| 151728239 | CV1505216 | single nucleotide variant | NM_004517.4(ILK):c.1052A>G (p.Tyr351Cys) | Primary familial hypertrophic cardiomyopathy [RCV002021027] | uncertain significance | 11 | 6610009 | 6610009 | Human | 1 | name |
| 151756612 | CV1517148 | single nucleotide variant | NM_004517.4(ILK):c.1018G>A (p.Val340Ile) | Primary familial hypertrophic cardiomyopathy [RCV002043806] | uncertain significance | 11 | 6609975 | 6609975 | Human | 1 | name |
| 9832376 | CV178649 | single nucleotide variant | NM_004517.4(ILK):c.1180G>A (p.Asp394Asn) | Primary familial hypertrophic cardiomyopathy [RCV000157248] | uncertain significance | 11 | 6610249 | 6610249 | Human | 1 | name |
| 155703125 | CV1787425 | single nucleotide variant | NM_004517.4(ILK):c.1163G>A (p.Arg388Gln) | not specified [RCV004051262] | uncertain significance | 11 | 6610232 | 6610232 | Human | | name |
| 155669703 | CV1832201 | single nucleotide variant | NM_004517.4(ILK):c.1313A>C (p.Lys438Thr) | not specified [RCV004058325] | uncertain significance | 11 | 6610565 | 6610565 | Human | | name |
| 155721364 | CV1835920 | single nucleotide variant | NM_004517.4(ILK):c.1001G>A (p.Arg334Gln) | Primary familial hypertrophic cardiomyopathy [RCV003621644]|not specified [RCV004058269] | uncertain significance | 11 | 6609958 | 6609958 | Human | 1 | name |
| 155695542 | CV1844653 | single nucleotide variant | NM_004517.4(ILK):c.1089G>T (p.Lys363Asn) | not specified [RCV004061946] | uncertain significance | 11 | 6610158 | 6610158 | Human | | name |
| 156418869 | CV1918877 | single nucleotide variant | NM_004517.4(ILK):c.1229G>A (p.Arg410Gln) | Primary familial hypertrophic cardiomyopathy [RCV002612079] | uncertain significance | 11 | 6610481 | 6610481 | Human | 1 | name |
| 156095419 | CV2004553 | single nucleotide variant | NM_004517.4(ILK):c.1075G>A (p.Glu359Lys) | Primary familial hypertrophic cardiomyopathy [RCV002639377] | uncertain significance | 11 | 6610032 | 6610032 | Human | 1 | name |
| 156032825 | CV2097557 | single nucleotide variant | NM_004517.4(ILK):c.1355A>C (p.Lys452Thr) | Primary familial hypertrophic cardiomyopathy [RCV002885475] | uncertain significance | 11 | 6610607 | 6610607 | Human | 1 | name |
| 156193742 | CV2099107 | single nucleotide variant | NM_004517.4(ILK):c.1275G>A (p.Met425Ile) | Primary familial hypertrophic cardiomyopathy [RCV002917537] | uncertain significance | 11 | 6610527 | 6610527 | Human | 1 | name |
| 329379781 | CV2429938 | single nucleotide variant | NM_004517.4(ILK):c.1093C>G (p.Pro365Ala) | not specified [RCV004245082] | uncertain significance | 11 | 6610162 | 6610162 | Human | | name |
| 401777410 | CV2728879 | single nucleotide variant | NM_004517.4(ILK):c.1090A>C (p.Lys364Gln) | not specified [RCV004331672] | uncertain significance | 11 | 6610159 | 6610159 | Human | | name |
| 402466593 | CV2998763 | single nucleotide variant | NM_004517.4(ILK):c.1031T>A (p.Phe344Tyr) | Primary familial hypertrophic cardiomyopathy [RCV003622955] | uncertain significance | 11 | 6609988 | 6609988 | Human | 1 | name |
| 402464244 | CV3074486 | single nucleotide variant | NM_004517.4(ILK):c.1228C>T (p.Arg410Trp) | Primary familial hypertrophic cardiomyopathy [RCV003622348] | uncertain significance | 11 | 6610480 | 6610480 | Human | 1 | name |
| 402464353 | CV3075126 | single nucleotide variant | NM_004517.4(ILK):c.1136C>T (p.Ala379Val) | Primary familial hypertrophic cardiomyopathy [RCV003622385] | uncertain significance | 11 | 6610205 | 6610205 | Human | 1 | name |
| 405117756 | CV3116008 | single nucleotide variant | NM_004517.4(ILK):c.1123A>C (p.Met375Leu) | Primary familial hypertrophic cardiomyopathy [RCV003814498] | uncertain significance | 11 | 6610192 | 6610192 | Human | 1 | name |
| 402518993 | CV3135928 | single nucleotide variant | NM_004517.4(ILK):c.1169T>C (p.Val390Ala) | Primary familial hypertrophic cardiomyopathy [RCV003824554] | uncertain significance | 11 | 6610238 | 6610238 | Human | 1 | name |
| 405689573 | CV3390105 | single nucleotide variant | NM_004517.4(ILK):c.1037G>A (p.Cys346Tyr) | not specified [RCV004519026] | uncertain significance | 11 | 6609994 | 6609994 | Human | | name |
| 405689345 | CV3390107 | single nucleotide variant | NM_004517.4(ILK):c.1153C>A (p.Leu385Met) | not specified [RCV004519028] | uncertain significance | 11 | 6610222 | 6610222 | Human | | name |
| 405689348 | CV3390108 | single nucleotide variant | NM_004517.4(ILK):c.1204A>G (p.Met402Val) | not specified [RCV004519029] | uncertain significance | 11 | 6610273 | 6610273 | Human | | name |
| 597775144 | CV3686631 | single nucleotide variant | NM_004517.4(ILK):c.1077A>C (p.Glu359Asp) | not specified [RCV004929309] | uncertain significance | 11 | 6610034 | 6610034 | Human | | name |
| 597775152 | CV3686633 | single nucleotide variant | NM_004517.4(ILK):c.1168G>A (p.Val390Ile) | not specified [RCV004929311] | uncertain significance | 11 | 6610237 | 6610237 | Human | | name |
| 597775163 | CV3686636 | single nucleotide variant | NM_004517.4(ILK):c.1159A>G (p.Thr387Ala) | not specified [RCV004929314] | uncertain significance | 11 | 6610228 | 6610228 | Human | | name |
| 597775204 | CV3686647 | single nucleotide variant | NM_004517.4(ILK):c.1015G>T (p.Asp339Tyr) | not specified [RCV004929325] | uncertain significance | 11 | 6609972 | 6609972 | Human | | name |
| 597775208 | CV3686648 | single nucleotide variant | NM_004517.4(ILK):c.1003A>G (p.Ile335Val) | not specified [RCV004929326] | uncertain significance | 11 | 6609960 | 6609960 | Human | | name |
| 597775223 | CV3686652 | single nucleotide variant | NM_004517.4(ILK):c.1294G>A (p.Asp432Asn) | not specified [RCV004929330] | uncertain significance | 11 | 6610546 | 6610546 | Human | | name |
| 597889258 | CV3739385 | single nucleotide variant | NM_004517.4(ILK):c.1048A>C (p.Met350Leu) | Primary familial hypertrophic cardiomyopathy [RCV005070932]|not specified [RCV005353389] | uncertain significance | 11 | 6610005 | 6610005 | Human | 1 | name |
| 597831356 | CV3750924 | single nucleotide variant | NM_004517.4(ILK):c.1038T>A (p.Cys346Ter) | Primary familial hypertrophic cardiomyopathy [RCV005084668] | uncertain significance | 11 | 6609995 | 6609995 | Human | 1 | name |
| 597962230 | CV3795409 | single nucleotide variant | NM_004517.4(ILK):c.1138G>A (p.Val380Met) | Primary familial hypertrophic cardiomyopathy [RCV005139101] | uncertain significance | 11 | 6610207 | 6610207 | Human | 1 | name |
| 597902662 | CV3800200 | single nucleotide variant | NM_004517.4(ILK):c.1273A>C (p.Met425Leu) | Primary familial hypertrophic cardiomyopathy [RCV005127372] | uncertain significance | 11 | 6610525 | 6610525 | Human | 1 | name |
| 598180627 | CV3972386 | single nucleotide variant | NM_004517.4(ILK):c.1088A>G (p.Lys363Arg) | not specified [RCV005352366] | uncertain significance | 11 | 6610157 | 6610157 | Human | | name |
| 598180632 | CV3972387 | single nucleotide variant | NM_004517.4(ILK):c.1125G>A (p.Met375Ile) | not specified [RCV005352367] | uncertain significance | 11 | 6610194 | 6610194 | Human | | name |
| 598207798 | CV3972390 | single nucleotide variant | NM_004517.4(ILK):c.1100A>G (p.Asp367Gly) | not specified [RCV005338029] | uncertain significance | 11 | 6610169 | 6610169 | Human | | name |
| 12913690 | CV421873 | single nucleotide variant | NM_004517.4(ILK):c.1112G>A (p.Arg371His) | Primary familial hypertrophic cardiomyopathy [RCV001865539]|not provided [RCV000494130] | uncertain significance | 11 | 6610181 | 6610181 | Human | 1 | name |
| 13471816 | CV461894 | single nucleotide variant | NM_004517.4(ILK):c.1252T>C (p.Ser418Pro) | Primary familial hypertrophic cardiomyopathy [RCV000547062] | uncertain significance | 11 | 6610504 | 6610504 | Human | 1 | name |
| 13533476 | CV497206 | single nucleotide variant | NM_004517.4(ILK):c.1285A>G (p.Met429Val) | not specified [RCV000601675] | uncertain significance | 11 | 6610537 | 6610537 | Human | | name |
| 13606720 | CV526701 | single nucleotide variant | NM_004517.4(ILK):c.1258C>T (p.His420Tyr) | Primary familial hypertrophic cardiomyopathy [RCV000638615] | uncertain significance | 11 | 6610510 | 6610510 | Human | 1 | name |
| 13807375 | CV566070 | single nucleotide variant | NM_004517.4(ILK):c.1353C>G (p.Asp451Glu) | Primary familial hypertrophic cardiomyopathy [RCV000701076] | uncertain significance | 11 | 6610605 | 6610605 | Human | 1 | name |
| 14711719 | CV640339 | single nucleotide variant | NM_004517.4(ILK):c.1306C>T (p.Arg436Ter) | Primary familial hypertrophic cardiomyopathy [RCV000810048] | uncertain significance | 11 | 6610558 | 6610558 | Human | 1 | name |
| 26905397 | CV838783 | single nucleotide variant | NM_004517.4(ILK):c.1046G>A (p.Arg349His) | Primary familial hypertrophic cardiomyopathy [RCV001071863] | uncertain significance | 11 | 6610003 | 6610003 | Human | 1 | name |
| 26917401 | CV838784 | single nucleotide variant | NM_004517.4(ILK):c.1149G>A (p.Trp383Ter) | Primary familial hypertrophic cardiomyopathy [RCV001041826] | uncertain significance | 11 | 6610218 | 6610218 | Human | 1 | name |
| 26913023 | CV838785 | single nucleotide variant | NM_004517.4(ILK):c.1238T>A (p.Ile413Asn) | Primary familial hypertrophic cardiomyopathy [RCV001035063] | uncertain significance | 11 | 6610490 | 6610490 | Human | 1 | name |
| 38493694 | CV926346 | single nucleotide variant | NM_004517.4(ILK):c.1162C>T (p.Arg388Trp) | Primary familial hypertrophic cardiomyopathy [RCV001224448]|not specified [RCV004032511] | uncertain significance | 11 | 6610231 | 6610231 | Human | 1 | name |
| 38457663 | CV935695 | single nucleotide variant | NM_004517.4(ILK):c.1045C>T (p.Arg349Cys) | Primary familial hypertrophic cardiomyopathy [RCV001211196] | uncertain significance | 11 | 6610002 | 6610002 | Human | 1 | name |
| 38487300 | CV935696 | single nucleotide variant | NM_004517.4(ILK):c.1256C>T (p.Pro419Leu) | Primary familial hypertrophic cardiomyopathy [RCV001209258]|not provided [RCV002224023] | uncertain significance | 11 | 6610508 | 6610508 | Human | 1 | name |
| 38473644 | CV956590 | single nucleotide variant | NM_004517.4(ILK):c.1357T>C (p.Ter453Gln) | Primary familial hypertrophic cardiomyopathy [RCV001242658] | uncertain significance | 11 | 6610609 | 6610609 | Human | 1 | name |
| 597898438 | CV3782564 | deletion | NM_004517.4(ILK):c.409_446del (p.Val137fs) | Primary familial hypertrophic cardiomyopathy [RCV005126789] | uncertain significance | 11 | 6608751 | 6608788 | Human | 1 | name |
| 126754698 | CV1009851 | deletion | NM_004517.4(ILK):c.1321_1322del (p.Met441fs) | Primary familial hypertrophic cardiomyopathy [RCV001327566] | uncertain significance | 11 | 6610573 | 6610574 | Human | 1 | name |
| 156264215 | CV2138849 | deletion | NM_004517.4(ILK):c.1105_1108del (p.Asn369fs) | ILK-related disorder [RCV003410017]|Primary familial hypertrophic cardiomyopathy [RCV002988579] | uncertain significance | 11 | 6610171 | 6610174 | Human | 2 | name , trait , alternate_id |
| 597872406 | CV3747166 | deletion | NM_004517.4(ILK):c.1259_1260del (p.His420fs) | Primary familial hypertrophic cardiomyopathy [RCV005068850] | uncertain significance | 11 | 6610511 | 6610512 | Human | 1 | name |
| 14736480 | CV640336 | deletion | NM_004517.4(ILK):c.164_181del (p.Met55_Ile60del) | Primary familial hypertrophic cardiomyopathy [RCV000820041] | uncertain significance | 11 | 6608115 | 6608132 | Human | 1 | name |
| 597913691 | CV3740516 | deletion | NM_004517.4(ILK):c.625_636del (p.Lys209_Trp212del) | Primary familial hypertrophic cardiomyopathy [RCV005073853] | uncertain significance | 11 | 6609302 | 6609313 | Human | 1 | name |
| 155948912 | CV2273571 | single nucleotide variant | NM_030768.3(ILKAP):c.68A>G (p.Gln23Arg) | not specified [RCV004134097] | uncertain significance | 2 | 238194858 | 238194858 | Human | | name |
| 597775227 | CV3686653 | single nucleotide variant | NM_030768.3(ILKAP):c.38C>T (p.Ser13Leu) | not specified [RCV004929331] | uncertain significance | 2 | 238203516 | 238203516 | Human | | name |
| 156055935 | CV2326624 | single nucleotide variant | NM_030768.3(ILKAP):c.226G>A (p.Gly76Arg) | not specified [RCV004183162] | uncertain significance | 2 | 238189925 | 238189925 | Human | | name |
| 329354214 | CV2437005 | single nucleotide variant | NM_030768.3(ILKAP):c.172G>A (p.Asp58Asn) | not specified [RCV004260372] | uncertain significance | 2 | 238194281 | 238194281 | Human | | name |
| 329393599 | CV2471991 | single nucleotide variant | NM_030768.3(ILKAP):c.106A>G (p.Ser36Gly) | not specified [RCV004283147] | uncertain significance | 2 | 238194820 | 238194820 | Human | | name |
| 401758661 | CV2700679 | single nucleotide variant | NM_030768.3(ILKAP):c.229G>A (p.Ala77Thr) | not specified [RCV004313394] | uncertain significance | 2 | 238189922 | 238189922 | Human | | name |
| 405805341 | CV3271307 | single nucleotide variant | NM_030768.3(ILKAP):c.225A>T (p.Lys75Asn) | not specified [RCV004405368] | uncertain significance | 2 | 238189926 | 238189926 | Human | | name |
| 597775446 | CV3686655 | single nucleotide variant | NM_030768.3(ILKAP):c.157C>G (p.Pro53Ala) | not specified [RCV004929333] | uncertain significance | 2 | 238194296 | 238194296 | Human | | name |
| 15186636 | CV697450 | single nucleotide variant | NM_030768.3(ILKAP):c.1080C>T (p.Asp360=) | not provided [RCV000953344] | benign | 2 | 238170635 | 238170635 | Human | | name |
| 156177065 | CV2296976 | single nucleotide variant | NM_030768.3(ILKAP):c.891G>C (p.Gln297His) | not specified [RCV004150906] | uncertain significance | 2 | 238173599 | 238173599 | Human | | name |
| 401728101 | CV2675955 | single nucleotide variant | NM_030768.3(ILKAP):c.305C>T (p.Ser102Leu) | not specified [RCV004281951] | uncertain significance | 2 | 238188251 | 238188251 | Human | | name |
| 401865644 | CV2786079 | single nucleotide variant | NM_030768.3(ILKAP):c.742A>T (p.Ser248Cys) | not specified [RCV004359897] | uncertain significance | 2 | 238182159 | 238182159 | Human | | name |
| 405805339 | CV3271308 | single nucleotide variant | NM_030768.3(ILKAP):c.745C>A (p.Gln249Lys) | not specified [RCV004405369] | uncertain significance | 2 | 238182156 | 238182156 | Human | | name |
| 405805337 | CV3271309 | single nucleotide variant | NM_030768.3(ILKAP):c.924C>G (p.Asp308Glu) | not specified [RCV004405370] | uncertain significance | 2 | 238173566 | 238173566 | Human | | name |
| 405805335 | CV3271310 | single nucleotide variant | NM_030768.3(ILKAP):c.950A>G (p.Asn317Ser) | not specified [RCV004405371] | uncertain significance | 2 | 238173540 | 238173540 | Human | | name |
| 407516207 | CV3444678 | single nucleotide variant | NM_030768.3(ILKAP):c.856G>A (p.Val286Met) | not specified [RCV004628119] | uncertain significance | 2 | 238173634 | 238173634 | Human | | name |
| 598207817 | CV3972393 | single nucleotide variant | NM_030768.3(ILKAP):c.856G>T (p.Val286Leu) | not specified [RCV005338032] | uncertain significance | 2 | 238173634 | 238173634 | Human | | name |
| 598180654 | CV3972394 | single nucleotide variant | NM_030768.3(ILKAP):c.451T>G (p.Phe151Val) | not specified [RCV005352370] | uncertain significance | 2 | 238185262 | 238185262 | Human | | name |
| 156295474 | CV2321507 | single nucleotide variant | NM_030768.3(ILKAP):c.1166G>A (p.Arg389Gln) | not specified [RCV004177476] | uncertain significance | 2 | 238170549 | 238170549 | Human | | name |
| 156128590 | CV2358482 | single nucleotide variant | NM_030768.3(ILKAP):c.1090G>A (p.Glu364Lys) | not specified [RCV004207370] | uncertain significance | 2 | 238170625 | 238170625 | Human | | name |
| 401722880 | CV2677125 | single nucleotide variant | NM_030768.3(ILKAP):c.1047G>T (p.Lys349Asn) | not specified [RCV004295760] | uncertain significance | 2 | 238170668 | 238170668 | Human | | name |
| 401769654 | CV2689874 | single nucleotide variant | NM_030768.3(ILKAP):c.1078G>A (p.Asp360Asn) | not specified [RCV004297771] | uncertain significance | 2 | 238170637 | 238170637 | Human | | name |
| 401738059 | CV2714306 | single nucleotide variant | NM_030768.3(ILKAP):c.1055C>A (p.Thr352Asn) | not specified [RCV004315989] | uncertain significance | 2 | 238170660 | 238170660 | Human | | name |