NM_004517.4(ILK):c.206C>T (p.Thr69Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000529247] |
Chr11:6608162 [GRCh38] Chr11:6629392 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1252T>C (p.Ser418Pro) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000547062] |
Chr11:6610504 [GRCh38] Chr11:6631735 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.785C>T (p.Ala262Val) |
single nucleotide variant |
Variant of unknown significance [RCV000043520] |
Chr11:6609568 [GRCh38] Chr11:6630799 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 |
copy number gain |
See cases [RCV000053616] |
Chr11:3745061..7846057 [GRCh38] Chr11:3766291..7867604 [GRCh37] Chr11:3722867..7824180 [NCBI36] Chr11:11p15.4 |
pathogenic |
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 |
copy number gain |
See cases [RCV000053613] |
Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13 |
pathogenic |
NM_004517.4(ILK):c.1020C>T (p.Val340=) |
single nucleotide variant |
not provided [RCV000122481] |
Chr11:6609977 [GRCh38] Chr11:6631208 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.297C>T (p.His99=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001516882]|not provided [RCV004718001]|not specified [RCV000125415] |
Chr11:6608435 [GRCh38] Chr11:6629665 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_004517.4(ILK):c.-108T>C |
single nucleotide variant |
not specified [RCV000125416] |
Chr11:6603807 [GRCh38] Chr11:6625037 [GRCh37] Chr11:11p15.4 |
benign |
NM_004517.4(ILK):c.819G>A (p.Pro273=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001516883]|not provided [RCV004718002]|not specified [RCV000125417] |
Chr11:6609602 [GRCh38] Chr11:6630833 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_004517.4(ILK):c.918C>T (p.Ala306=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001513851]|not provided [RCV004718003]|not specified [RCV000125418] |
Chr11:6609785 [GRCh38] Chr11:6631016 [GRCh37] Chr11:11p15.4 |
benign |
NM_004517.4(ILK):c.1079-18C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002055571]|not provided [RCV004718004]|not specified [RCV000125419] |
Chr11:6610130 [GRCh38] Chr11:6631361 [GRCh37] Chr11:11p15.4 |
benign |
NM_004517.4(ILK):c.211del (p.Leu71fs) |
deletion |
not specified [RCV000190598] |
Chr11:6608162 [GRCh38] Chr11:6629392 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.86dup (p.Asp31fs) |
duplication |
Primary familial hypertrophic cardiomyopathy [RCV000143900] |
Chr11:6604356..6604357 [GRCh38] Chr11:6625586..6625587 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) |
single nucleotide variant |
ILK-related disorder [RCV003905245]|Primary familial hypertrophic cardiomyopathy [RCV000143901]|not provided [RCV001529362]|not specified [RCV000183461] |
Chr11:6609311 [GRCh38] Chr11:6630542 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3 |
copy number gain |
See cases [RCV000136804] |
Chr11:6261582..6637999 [GRCh38] Chr11:6282812..6659230 [GRCh37] Chr11:6239388..6615806 [NCBI36] Chr11:11p15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 |
copy number gain |
See cases [RCV000139987] |
Chr11:61793..10727969 [GRCh38] Chr11:61793..10749516 [GRCh37] Chr11:51793..10706092 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
NM_004517.4(ILK):c.157T>A (p.Leu53Met) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000157246]|not provided [RCV000757406] |
Chr11:6608113 [GRCh38] Chr11:6629343 [GRCh37] Chr11:11p15.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004517.4(ILK):c.962A>G (p.Asn321Ser) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000157247]|not specified [RCV004019896] |
Chr11:6609829 [GRCh38] Chr11:6631060 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1180G>A (p.Asp394Asn) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000157248] |
Chr11:6610249 [GRCh38] Chr11:6631480 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.435A>C (p.Arg145Ser) |
single nucleotide variant |
ILK-related disorder [RCV003907639]|Primary familial hypertrophic cardiomyopathy [RCV000472252]|not specified [RCV000183454] |
Chr11:6608777 [GRCh38] Chr11:6630007 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 |
copy number gain |
See cases [RCV000133997] |
Chr11:446754..18904742 [GRCh38] Chr11:446754..18926289 [GRCh37] Chr11:436754..18882865 [NCBI36] Chr11:11p15.5-15.1 |
pathogenic |
NM_004517.4(ILK):c.448+12del |
deletion |
Cardiomyopathy [RCV000183455]|not specified [RCV000611093] |
Chr11:6608799 [GRCh38] Chr11:6630029 [GRCh37] Chr11:11p15.4 |
benign|no classifications from unflagged records |
NM_004517.3(ILK):c.1081C>T (p.Leu361=) |
single nucleotide variant |
Cardiomyopathy [RCV000183456] |
Chr11:6610150 [GRCh38] Chr11:6631381 [GRCh37] Chr11:11p15.4 |
benign |
NM_004517.4(ILK):c.65A>G (p.Asn22Ser) |
single nucleotide variant |
Cardiomyopathy [RCV000852646]|ILK-related disorder [RCV003927713]|Primary familial hypertrophic cardiomyopathy [RCV000227217]|not provided [RCV001529459]|not specified [RCV000183457] |
Chr11:6604336 [GRCh38] Chr11:6625566 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004517.4(ILK):c.175C>T (p.Arg59Trp) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000706695]|not provided [RCV000183459] |
Chr11:6608131 [GRCh38] Chr11:6629361 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.184G>A (p.Val62Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001305619]|not provided [RCV000183460]|not specified [RCV004020215] |
Chr11:6608140 [GRCh38] Chr11:6629370 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.669G>T (p.Lys223Asn) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001088134]|not provided [RCV000183462] |
Chr11:6609349 [GRCh38] Chr11:6630580 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004517.4(ILK):c.337G>T (p.Asp113Tyr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000546414] |
Chr11:6608475 [GRCh38] Chr11:6629705 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.446G>A (p.Arg149Gln) |
single nucleotide variant |
Long QT syndrome [RCV000208422]|Primary familial hypertrophic cardiomyopathy [RCV001211006]|not provided [RCV000520010]|not specified [RCV004020557] |
Chr11:6608788 [GRCh38] Chr11:6630018 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.734T>A (p.Phe245Tyr) |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV000208000]|Primary familial hypertrophic cardiomyopathy [RCV005055735] |
Chr11:6609517 [GRCh38] Chr11:6630748 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.618+10G>A |
single nucleotide variant |
not specified [RCV000215415] |
Chr11:6609166 [GRCh38] Chr11:6630397 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.857-12G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002057111]|not provided [RCV004705046]|not specified [RCV000217112] |
Chr11:6609712 [GRCh38] Chr11:6630943 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_004517.4(ILK):c.252G>A (p.Gln84=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001393025]|not provided [RCV001640335]|not specified [RCV000217512] |
Chr11:6608208 [GRCh38] Chr11:6629438 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.778C>T (p.Pro260Ser) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000692720]|not specified [RCV000214294] |
Chr11:6609561 [GRCh38] Chr11:6630792 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.532+14G>A |
single nucleotide variant |
not specified [RCV000221726] |
Chr11:6608981 [GRCh38] Chr11:6630212 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.619-6C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000233448]|not provided [RCV001092690]|not specified [RCV004020814] |
Chr11:6609293 [GRCh38] Chr11:6630524 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004517.4(ILK):c.728+13G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002529575]|not specified [RCV000604365] |
Chr11:6609421 [GRCh38] Chr11:6630652 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.707A>G (p.Asn236Ser) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001084716]|not provided [RCV000757407] |
Chr11:6609387 [GRCh38] Chr11:6630618 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004517.4(ILK):c.887A>C (p.Lys296Thr) |
single nucleotide variant |
not provided [RCV002292831] |
Chr11:6609754 [GRCh38] Chr11:6630985 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.864C>T (p.Val288=) |
single nucleotide variant |
ILK-related disorder [RCV003917955]|Primary familial hypertrophic cardiomyopathy [RCV000868778]|not specified [RCV000605278] |
Chr11:6609731 [GRCh38] Chr11:6630962 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_004517.4(ILK):c.601G>A (p.Glu201Lys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000811938]|not specified [RCV000414750] |
Chr11:6609139 [GRCh38] Chr11:6630370 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.458A>G (p.Glu153Gly) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005091209]|not provided [RCV001574022] |
Chr11:6608893 [GRCh38] Chr11:6630124 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_004517.4(ILK):c.36C>T (p.Asn12=) |
single nucleotide variant |
ILK-related disorder [RCV003905378]|Primary familial hypertrophic cardiomyopathy [RCV000558663]|not specified [RCV004023899] |
Chr11:6604307 [GRCh38] Chr11:6625537 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 |
copy number gain |
See cases [RCV000449417] |
Chr11:230615..6644927 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_004517.4(ILK):c.729-7C>A |
single nucleotide variant |
ILK-related disorder [RCV003912706]|Primary familial hypertrophic cardiomyopathy [RCV000475855]|not provided [RCV001703864] |
Chr11:6609505 [GRCh38] Chr11:6630736 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.219G>C (p.Leu73=) |
single nucleotide variant |
not specified [RCV000431078] |
Chr11:6608175 [GRCh38] Chr11:6629405 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.600C>T (p.Asn200=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002063510]|not specified [RCV000431303] |
Chr11:6609138 [GRCh38] Chr11:6630369 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1296C>T (p.Asp432=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001451602]|not specified [RCV000441662] |
Chr11:6610548 [GRCh38] Chr11:6631779 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.-109C>T |
single nucleotide variant |
not specified [RCV000427901] |
Chr11:6603806 [GRCh38] Chr11:6625036 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1079-14C>A |
single nucleotide variant |
not specified [RCV000438289] |
Chr11:6610134 [GRCh38] Chr11:6631365 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.255+10A>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001453520]|not provided [RCV001704332] |
Chr11:6608221 [GRCh38] Chr11:6629451 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.*2A>G |
single nucleotide variant |
not specified [RCV000424618] |
Chr11:6610613 [GRCh38] Chr11:6631844 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.-113G>T |
single nucleotide variant |
not specified [RCV000435740] |
Chr11:6603802 [GRCh38] Chr11:6625032 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.-105A>G |
single nucleotide variant |
not specified [RCV000435756] |
Chr11:6603810 [GRCh38] Chr11:6625040 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.282T>C (p.Asn94=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000638618]|not provided [RCV001703546]|not specified [RCV004022307] |
Chr11:6608420 [GRCh38] Chr11:6629650 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_004517.4(ILK):c.279C>A (p.Ile93=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001504425]|not specified [RCV000429587] |
Chr11:6608417 [GRCh38] Chr11:6629647 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.351+10C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001460751]|not specified [RCV000436407] |
Chr11:6608499 [GRCh38] Chr11:6629729 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.351+19A>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002059743]|not specified [RCV000422672] |
Chr11:6608508 [GRCh38] Chr11:6629738 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.89+3G>A |
single nucleotide variant |
not provided [RCV000429863] |
Chr11:6604363 [GRCh38] Chr11:6625593 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.255+4C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000476681]|not provided [RCV001721370] |
Chr11:6608215 [GRCh38] Chr11:6629445 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_004517.4(ILK):c.1197G>A (p.Glu399=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002521738]|not specified [RCV000426597] |
Chr11:6610266 [GRCh38] Chr11:6631497 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.12T>A (p.Ile4=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002521810]|not specified [RCV000437389] |
Chr11:6604283 [GRCh38] Chr11:6625513 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.277A>G (p.Ile93Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002526513]|not provided [RCV000482953]|not specified [RCV004023107] |
Chr11:6608415 [GRCh38] Chr11:6629645 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.130G>C (p.Glu44Gln) |
single nucleotide variant |
ILK-related disorder [RCV003403155]|Primary familial hypertrophic cardiomyopathy [RCV000555076]|not provided [RCV000497634] |
Chr11:6608086 [GRCh38] Chr11:6629316 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance |
NM_004517.4(ILK):c.146T>C (p.Val49Ala) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003621543]|not provided [RCV000498513] |
Chr11:6608102 [GRCh38] Chr11:6629332 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 |
copy number gain |
See cases [RCV000511561] |
Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12 |
pathogenic |
NM_004517.4(ILK):c.1112G>A (p.Arg371His) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001865539]|not provided [RCV000494130] |
Chr11:6610181 [GRCh38] Chr11:6631412 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_004517.4(ILK):c.1258C>T (p.His420Tyr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000638615] |
Chr11:6610510 [GRCh38] Chr11:6631741 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.468C>A (p.Gly156=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000638617]|not specified [RCV004025519] |
Chr11:6608903 [GRCh38] Chr11:6630134 [GRCh37] Chr11:11p15.4 |
likely benign |
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) |
copy number gain |
Silver-Russell syndrome 1 [RCV000767567] |
Chr11:193146..12643136 [GRCh37] Chr11:11p15.5-15.3 |
pathogenic |
NM_004517.4(ILK):c.504C>G (p.Phe168Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000638616] |
Chr11:6608939 [GRCh38] Chr11:6630170 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1090A>C (p.Lys364Gln) |
single nucleotide variant |
not specified [RCV004331672] |
Chr11:6610159 [GRCh38] Chr11:6631390 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.864C>G (p.Val288=) |
single nucleotide variant |
not specified [RCV004331674] |
Chr11:6609731 [GRCh38] Chr11:6630962 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.78C>A (p.Asp26Glu) |
single nucleotide variant |
not specified [RCV004331675] |
Chr11:6604349 [GRCh38] Chr11:6625579 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1285A>G (p.Met429Val) |
single nucleotide variant |
not specified [RCV000601675] |
Chr11:6610537 [GRCh38] Chr11:6631768 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1079-8C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001860260]|not specified [RCV000610031] |
Chr11:6610140 [GRCh38] Chr11:6631371 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_004517.4(ILK):c.979-17dup |
duplication |
Primary familial hypertrophic cardiomyopathy [RCV003621559]|not specified [RCV000615494] |
Chr11:6609918..6609919 [GRCh38] Chr11:6631149..6631150 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.222A>T (p.Ala74=) |
single nucleotide variant |
not specified [RCV000608102] |
Chr11:6608178 [GRCh38] Chr11:6629408 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.-16G>A |
single nucleotide variant |
not specified [RCV000611177] |
Chr11:6604256 [GRCh38] Chr11:6625486 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.632G>A (p.Arg211His) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001236813]|not specified [RCV000609112] |
Chr11:6609312 [GRCh38] Chr11:6630543 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004517.4(ILK):c.503T>G (p.Phe168Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619469]|Primary familial hypertrophic cardiomyopathy [RCV001506166] |
Chr11:6608938 [GRCh38] Chr11:6630169 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_004517.4(ILK):c.580A>G (p.Asn194Asp) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000638614]|not specified [RCV004025518] |
Chr11:6609118 [GRCh38] Chr11:6630349 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 |
copy number gain |
See cases [RCV000512225] |
Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3 |
pathogenic |
NM_004517.4(ILK):c.521G>A (p.Arg174His) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621572]|Primary familial hypertrophic cardiomyopathy [RCV001351095] |
Chr11:6608956 [GRCh38] Chr11:6630187 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 |
copy number gain |
See cases [RCV000512477] |
Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
NM_004517.4(ILK):c.1353C>G (p.Asp451Glu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000701076] |
Chr11:6610605 [GRCh38] Chr11:6631836 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 |
copy number gain |
not provided [RCV000683369] |
Chr11:230615..9704511 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 |
copy number gain |
not provided [RCV000683372] |
Chr11:230615..17099213 [GRCh37] Chr11:11p15.5-15.1 |
pathogenic |
NM_004517.4(ILK):c.223G>C (p.Ala75Pro) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000690520] |
Chr11:6608179 [GRCh38] Chr11:6629409 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NC_000011.10:g.6603668G>A |
single nucleotide variant |
not provided [RCV001692671] |
Chr11:6603668 [GRCh38] Chr11:6624898 [GRCh37] Chr11:11p15.4 |
benign |
NC_000011.10:g.6603573A>G |
single nucleotide variant |
not provided [RCV001766313] |
Chr11:6603573 [GRCh38] Chr11:6624803 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.452G>A (p.Arg151Gln) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001054638] |
Chr11:6608887 [GRCh38] Chr11:6630118 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.90-5C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001504053] |
Chr11:6608041 [GRCh38] Chr11:6629271 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.352-9T>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000866152] |
Chr11:6608685 [GRCh38] Chr11:6629915 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.501A>G (p.Thr167=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001432842]|not specified [RCV004029761] |
Chr11:6608936 [GRCh38] Chr11:6630167 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.428C>T (p.Pro143Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001066281] |
Chr11:6608770 [GRCh38] Chr11:6630000 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1046G>A (p.Arg349His) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001071863] |
Chr11:6610003 [GRCh38] Chr11:6631234 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.386G>C (p.Cys129Ser) |
single nucleotide variant |
not provided [RCV000786321] |
Chr11:6608728 [GRCh38] Chr11:6629958 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.234A>G (p.Gly78=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001435791]|not provided [RCV000826924]|not specified [RCV004927645] |
Chr11:6608190 [GRCh38] Chr11:6629420 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.708T>C (p.Asn236=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001476490]|not specified [RCV004029696] |
Chr11:6609388 [GRCh38] Chr11:6630619 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.93C>T (p.Asp31=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002064477] |
Chr11:6608049 [GRCh38] Chr11:6629279 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1306C>T (p.Arg436Ter) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000810048] |
Chr11:6610558 [GRCh38] Chr11:6631789 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.255+89G>A |
single nucleotide variant |
not provided [RCV000831961] |
Chr11:6608300 [GRCh38] Chr11:6629530 [GRCh37] Chr11:11p15.4 |
benign |
NM_004517.4(ILK):c.351+39G>A |
single nucleotide variant |
not provided [RCV000832927] |
Chr11:6608528 [GRCh38] Chr11:6629758 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.164_181del (p.Met55_Ile60del) |
deletion |
Primary familial hypertrophic cardiomyopathy [RCV000820041] |
Chr11:6608115..6608132 [GRCh38] Chr11:6629345..6629362 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1079-10A>C |
single nucleotide variant |
ILK-related disorder [RCV003918307]|Primary familial hypertrophic cardiomyopathy [RCV001451940]|not provided [RCV000841749]|not specified [RCV001727804] |
Chr11:6610138 [GRCh38] Chr11:6631369 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_004517.4(ILK):c.466G>A (p.Gly156Ser) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000824494]|not provided [RCV001528263]|not specified [RCV004029180] |
Chr11:6608901 [GRCh38] Chr11:6630132 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_004517.4(ILK):c.236A>T (p.His79Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000812749] |
Chr11:6608192 [GRCh38] Chr11:6629422 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.618+23T>C |
single nucleotide variant |
not provided [RCV000830425] |
Chr11:6609179 [GRCh38] Chr11:6630410 [GRCh37] Chr11:11p15.4 |
benign |
NM_004517.4(ILK):c.-129G>T |
single nucleotide variant |
not provided [RCV000830691] |
Chr11:6603786 [GRCh38] Chr11:6625016 [GRCh37] Chr11:11p15.4 |
benign |
NM_004517.4(ILK):c.619-12C>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005056620]|not provided [RCV000841422] |
Chr11:6609287 [GRCh38] Chr11:6630518 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.-92-39A>G |
single nucleotide variant |
not provided [RCV000835168] |
Chr11:6604141 [GRCh38] Chr11:6625371 [GRCh37] Chr11:11p15.4 |
likely benign |
GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3 |
copy number gain |
not provided [RCV000849971] |
Chr11:5896551..6719852 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1256C>T (p.Pro419Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001209258]|not provided [RCV002224023] |
Chr11:6610508 [GRCh38] Chr11:6631739 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1357T>C (p.Ter453Gln) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001242658] |
Chr11:6610609 [GRCh38] Chr11:6631840 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1162C>T (p.Arg388Trp) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001224448]|not specified [RCV004032511] |
Chr11:6610231 [GRCh38] Chr11:6631462 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.4(chr11:6607967-6796286)x3 |
copy number gain |
not provided [RCV000846249] |
Chr11:6607967..6796286 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.879G>C (p.Gln293His) |
single nucleotide variant |
See cases [RCV001198754] |
Chr11:6609746 [GRCh38] Chr11:6630977 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.296A>C (p.His99Pro) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001212152] |
Chr11:6608434 [GRCh38] Chr11:6629664 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.9:g.(?_6625502)_(6662844_?)dup |
duplication |
not provided [RCV003107734] |
Chr11:6625502..6662844 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.610T>G (p.Ser204Ala) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003621695]|not specified [RCV004331673] |
Chr11:6609148 [GRCh38] Chr11:6630379 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.399A>G (p.Gly133=) |
single nucleotide variant |
not specified [RCV004331677] |
Chr11:6608741 [GRCh38] Chr11:6629971 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.906A>G (p.Ala302=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002073358]|not provided [RCV001714553]|not specified [RCV004039971] |
Chr11:6609773 [GRCh38] Chr11:6631004 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_004517.4(ILK):c.1263G>T (p.Val421=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000869957]|not specified [RCV004027766] |
Chr11:6610515 [GRCh38] Chr11:6631746 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.857-10C>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001444951] |
Chr11:6609714 [GRCh38] Chr11:6630945 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.969T>C (p.Arg323=) |
single nucleotide variant |
not provided [RCV000923130] |
Chr11:6609836 [GRCh38] Chr11:6631067 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.183T>C (p.Asn61=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001443143]|not specified [RCV004029688] |
Chr11:6608139 [GRCh38] Chr11:6629369 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.163A>G (p.Met55Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001053599] |
Chr11:6608119 [GRCh38] Chr11:6629349 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.757G>C (p.Val253Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001227385] |
Chr11:6609540 [GRCh38] Chr11:6630771 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.451C>T (p.Arg151Trp) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001241344]|not specified [RCV004927680] |
Chr11:6608886 [GRCh38] Chr11:6630117 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.7G>C (p.Asp3His) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001059223] |
Chr11:6604278 [GRCh38] Chr11:6625508 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.714G>A (p.Glu238=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000934412]|not specified [RCV004029612] |
Chr11:6609394 [GRCh38] Chr11:6630625 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.777T>C (p.Ser259=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002857913] |
Chr11:6609560 [GRCh38] Chr11:6630791 [GRCh37] Chr11:11p15.4 |
likely benign |
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 |
copy number gain |
not provided [RCV001006372] |
Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
NM_004517.4(ILK):c.1210-4G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002073259]|not provided [RCV001698920] |
Chr11:6610458 [GRCh38] Chr11:6631689 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NC_000011.9:g.(?_5709028)_(6640651_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001032559] |
Chr11:5709028..6640651 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.169G>A (p.Gly57Arg) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001069447] |
Chr11:6608125 [GRCh38] Chr11:6629355 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.255+3A>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001069587] |
Chr11:6608214 [GRCh38] Chr11:6629444 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1238T>A (p.Ile413Asn) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001035063] |
Chr11:6610490 [GRCh38] Chr11:6631721 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.799C>G (p.Leu267Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001207142] |
Chr11:6609582 [GRCh38] Chr11:6630813 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.193C>T (p.Arg65Cys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001045425] |
Chr11:6608149 [GRCh38] Chr11:6629379 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.614G>A (p.Gly205Glu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001071240]|not specified [RCV004629445] |
Chr11:6609152 [GRCh38] Chr11:6630383 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_004517.4(ILK):c.1149G>A (p.Trp383Ter) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001041826] |
Chr11:6610218 [GRCh38] Chr11:6631449 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1045C>T (p.Arg349Cys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001211196] |
Chr11:6610002 [GRCh38] Chr11:6631233 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.958C>G (p.Leu320Val) |
single nucleotide variant |
ILK-related disorder [RCV003416192]|Primary familial hypertrophic cardiomyopathy [RCV001314416] |
Chr11:6609825 [GRCh38] Chr11:6631056 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1321_1322del (p.Met441fs) |
deletion |
Primary familial hypertrophic cardiomyopathy [RCV001327566] |
Chr11:6610573..6610574 [GRCh38] Chr11:6631804..6631805 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.766G>A (p.Ala256Thr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001337324] |
Chr11:6609549 [GRCh38] Chr11:6630780 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.89+6C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001363143] |
Chr11:6604366 [GRCh38] Chr11:6625596 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1122C>T (p.Asp374=) |
single nucleotide variant |
ILK-related disorder [RCV003938706]|Primary familial hypertrophic cardiomyopathy [RCV001413110]|not specified [RCV004038102] |
Chr11:6610191 [GRCh38] Chr11:6631422 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.968G>A (p.Arg323His) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001345837]|not specified [RCV004036467] |
Chr11:6609835 [GRCh38] Chr11:6631066 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.673C>T (p.Arg225Ter) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001321849] |
Chr11:6609353 [GRCh38] Chr11:6630584 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.958C>A (p.Leu320Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001365097]|not specified [RCV004036933] |
Chr11:6609825 [GRCh38] Chr11:6631056 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.586C>G (p.Leu196Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001323102] |
Chr11:6609124 [GRCh38] Chr11:6630355 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1307G>A (p.Arg436Gln) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001322222] |
Chr11:6610559 [GRCh38] Chr11:6631790 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.9:g.(?_5709028)_(6640651_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001032559]|not provided [RCV001327815] |
Chr11:5709028..6640651 [GRCh37] Chr11:11p15.4 |
uncertain significance|no classifications from unflagged records |
NM_004517.4(ILK):c.978+5_979-38dup |
duplication |
Primary familial hypertrophic cardiomyopathy [RCV001299376] |
Chr11:6609849..6609850 [GRCh38] Chr11:6631080..6631081 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1301C>A (p.Ala434Glu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001372928] |
Chr11:6610553 [GRCh38] Chr11:6631784 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.175C>G (p.Arg59Gly) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001314361] |
Chr11:6608131 [GRCh38] Chr11:6629361 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1331C>A (p.Pro444His) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001345628] |
Chr11:6610583 [GRCh38] Chr11:6631814 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.35A>G (p.Asn12Ser) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001364575] |
Chr11:6604306 [GRCh38] Chr11:6625536 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1322T>G (p.Met441Arg) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001366129] |
Chr11:6610574 [GRCh38] Chr11:6631805 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.861C>T (p.Phe287=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001421563]|not specified [RCV004038195] |
Chr11:6609728 [GRCh38] Chr11:6630959 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.818C>G (p.Pro273Arg) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001413866] |
Chr11:6609601 [GRCh38] Chr11:6630832 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.909G>A (p.Arg303=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001421154]|not specified [RCV004038189] |
Chr11:6609776 [GRCh38] Chr11:6631007 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.674G>A (p.Arg225Gln) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001366941] |
Chr11:6609354 [GRCh38] Chr11:6630585 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.654C>T (p.Val218=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001412531] |
Chr11:6609334 [GRCh38] Chr11:6630565 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.636G>T (p.Trp212Cys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001339475]|not specified [RCV004927694] |
Chr11:6609316 [GRCh38] Chr11:6630547 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.256-7G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001337486] |
Chr11:6608387 [GRCh38] Chr11:6629617 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.930A>T (p.Thr310=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001478819] |
Chr11:6609797 [GRCh38] Chr11:6631028 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.885G>A (p.Val295=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001473738] |
Chr11:6609752 [GRCh38] Chr11:6630983 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1227T>C (p.Leu409=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001497668] |
Chr11:6610479 [GRCh38] Chr11:6631710 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.9:g.(?_6559613)_(6640631_?)del |
deletion |
not provided [RCV001386249] |
Chr11:6559613..6640631 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_004517.4(ILK):c.1188C>A (p.Ser396=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001453524]|not specified [RCV004038522] |
Chr11:6610257 [GRCh38] Chr11:6631488 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.801C>T (p.Leu267=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001488136]|not specified [RCV004037287] |
Chr11:6609584 [GRCh38] Chr11:6630815 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.721C>T (p.Arg241Trp) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001873743]|not provided [RCV001529662] |
Chr11:6609401 [GRCh38] Chr11:6630632 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.522C>T (p.Arg174=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001441708] |
Chr11:6608957 [GRCh38] Chr11:6630188 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1266T>C (p.Cys422=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001428677]|not specified [RCV004927705] |
Chr11:6610518 [GRCh38] Chr11:6631749 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.738G>C (p.Ser246=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001408185]|not specified [RCV004038035] |
Chr11:6609521 [GRCh38] Chr11:6630752 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.171G>A (p.Gly57=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001432115]|not specified [RCV004631703] |
Chr11:6608127 [GRCh38] Chr11:6629357 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.117C>T (p.His39=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001499045] |
Chr11:6608073 [GRCh38] Chr11:6629303 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.90-234G>A |
single nucleotide variant |
not provided [RCV001710828] |
Chr11:6607812 [GRCh38] Chr11:6629042 [GRCh37] Chr11:11p15.4 |
benign |
NM_004517.4(ILK):c.207C>T (p.Thr69=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001495862] |
Chr11:6608163 [GRCh38] Chr11:6629393 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1140G>C (p.Val380=) |
single nucleotide variant |
not provided [RCV001618925]|not specified [RCV004039542] |
Chr11:6610209 [GRCh38] Chr11:6631440 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_004517.4(ILK):c.448+9= |
variation |
Primary familial hypertrophic cardiomyopathy [RCV001513850]|not provided [RCV001529746]|not specified [RCV001727861] |
Chr11:6608799..6608802 [GRCh38] Chr11:6630030..6630033 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_004517.4(ILK):c.69G>C (p.Thr23=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001486296] |
Chr11:6604340 [GRCh38] Chr11:6625570 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.555C>T (p.His185=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001459007]|not specified [RCV004038569] |
Chr11:6609093 [GRCh38] Chr11:6630324 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1210-5C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001393971] |
Chr11:6610457 [GRCh38] Chr11:6631688 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.551A>C (p.Lys184Thr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005094723]|not provided [RCV001528579]|not specified [RCV004039194] |
Chr11:6609089 [GRCh38] Chr11:6630320 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.647A>G (p.Asp216Gly) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003509681]|not provided [RCV001730284] |
Chr11:6609327 [GRCh38] Chr11:6630558 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1216T>C (p.Leu406=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003509800]|not specified [RCV004331676] |
Chr11:6610468 [GRCh38] Chr11:6631699 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1066G>A (p.Val356Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002074033]|not provided [RCV001769937]|not specified [RCV004631742] |
Chr11:6610023 [GRCh38] Chr11:6631254 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1209+52A>C |
single nucleotide variant |
not provided [RCV001769687] |
Chr11:6610330 [GRCh38] Chr11:6631561 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.-92-95A>G |
single nucleotide variant |
not provided [RCV001769852] |
Chr11:6604085 [GRCh38] Chr11:6625315 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.-93+150G>C |
single nucleotide variant |
not provided [RCV001759354] |
Chr11:6603972 [GRCh38] Chr11:6625202 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.352-4C>G |
single nucleotide variant |
not provided [RCV001757798] |
Chr11:6608690 [GRCh38] Chr11:6629920 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.*61C>T |
single nucleotide variant |
not provided [RCV001752883] |
Chr11:6610672 [GRCh38] Chr11:6631903 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.481C>T (p.Arg161Cys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001896916]|not specified [RCV004042537] |
Chr11:6608916 [GRCh38] Chr11:6630147 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.856+3G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001896267] |
Chr11:6609642 [GRCh38] Chr11:6630873 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1046G>T (p.Arg349Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001913168] |
Chr11:6610003 [GRCh38] Chr11:6631234 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.613G>A (p.Gly205Arg) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001967139]|not specified [RCV004041882] |
Chr11:6609151 [GRCh38] Chr11:6630382 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.255+19G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001891397] |
Chr11:6608230 [GRCh38] Chr11:6629460 [GRCh37] Chr11:11p15.4 |
likely benign |
GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3 |
copy number gain |
not provided [RCV001836564] |
Chr11:6502523..7248333 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1052A>G (p.Tyr351Cys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002021027] |
Chr11:6610009 [GRCh38] Chr11:6631240 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1270C>G (p.Leu424Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001911001] |
Chr11:6610522 [GRCh38] Chr11:6631753 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.590C>T (p.Thr197Met) |
single nucleotide variant |
ILK-related cardiomyopathy [RCV003448436]|Primary familial hypertrophic cardiomyopathy [RCV001984975] |
Chr11:6609128 [GRCh38] Chr11:6630359 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1018G>A (p.Val340Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002043806] |
Chr11:6609975 [GRCh38] Chr11:6631206 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1086G>C (p.Gln362His) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001911736]|not provided [RCV002224110] |
Chr11:6610155 [GRCh38] Chr11:6631386 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1214C>T (p.Ala405Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002022732] |
Chr11:6610466 [GRCh38] Chr11:6631697 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.110C>T (p.Pro37Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001945068] |
Chr11:6608066 [GRCh38] Chr11:6629296 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.436G>C (p.Glu146Gln) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001926392] |
Chr11:6608778 [GRCh38] Chr11:6630008 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1111C>T (p.Arg371Cys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001943925]|not specified [RCV004044141] |
Chr11:6610180 [GRCh38] Chr11:6631411 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1210-2A>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001954545] |
Chr11:6610460 [GRCh38] Chr11:6631691 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.395A>G (p.Tyr132Cys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002018447] |
Chr11:6608737 [GRCh38] Chr11:6629967 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.370G>T (p.Ala124Ser) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001937404] |
Chr11:6608712 [GRCh38] Chr11:6629942 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.373C>G (p.Leu125Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002035652]|not specified [RCV004045942] |
Chr11:6608715 [GRCh38] Chr11:6629945 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.836A>G (p.Asn279Ser) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001864971] |
Chr11:6609619 [GRCh38] Chr11:6630850 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.656T>A (p.Val219Glu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001879628] |
Chr11:6609336 [GRCh38] Chr11:6630567 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.137G>A (p.Arg46His) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001886529] |
Chr11:6608093 [GRCh38] Chr11:6629323 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.352G>A (p.Asp118Asn) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001935701] |
Chr11:6608694 [GRCh38] Chr11:6629924 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.856+1G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002048291] |
Chr11:6609640 [GRCh38] Chr11:6630871 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1078+5G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002050846] |
Chr11:6610040 [GRCh38] Chr11:6631271 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.422A>G (p.Lys141Arg) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001957747]|not specified [RCV004043019] |
Chr11:6608764 [GRCh38] Chr11:6629994 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.9:g.(?_6625492)_(6631852_?)dup |
duplication |
Primary familial hypertrophic cardiomyopathy [RCV001918770] |
Chr11:6625492..6631852 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.128G>A (p.Arg43Gln) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001906275] |
Chr11:6608084 [GRCh38] Chr11:6629314 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.862G>A (p.Val288Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001952021]|not specified [RCV004043613] |
Chr11:6609729 [GRCh38] Chr11:6630960 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1347G>A (p.Met449Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001979554] |
Chr11:6610599 [GRCh38] Chr11:6631830 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1022A>G (p.Lys341Arg) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002047169] |
Chr11:6609979 [GRCh38] Chr11:6631210 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.79C>A (p.Leu27Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001996844] |
Chr11:6604350 [GRCh38] Chr11:6625580 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.695G>A (p.Ser232Asn) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001864884] |
Chr11:6609375 [GRCh38] Chr11:6630606 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.857-10C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV001953962] |
Chr11:6609714 [GRCh38] Chr11:6630945 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.90-17T>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002127274] |
Chr11:6608029 [GRCh38] Chr11:6629259 [GRCh37] Chr11:11p15.4 |
benign |
NM_004517.4(ILK):c.387T>C (p.Cys129=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002167234] |
Chr11:6608729 [GRCh38] Chr11:6629959 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.837T>C (p.Asn279=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002127543]|not specified [RCV004927811] |
Chr11:6609620 [GRCh38] Chr11:6630851 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.448+11C>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002109216] |
Chr11:6608801 [GRCh38] Chr11:6630032 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.619-11C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002205699] |
Chr11:6609288 [GRCh38] Chr11:6630519 [GRCh37] Chr11:11p15.4 |
benign |
NM_004517.4(ILK):c.352-8C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002190965] |
Chr11:6608686 [GRCh38] Chr11:6629916 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.449-15G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002168785] |
Chr11:6608869 [GRCh38] Chr11:6630100 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.619-18C>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002089500] |
Chr11:6609281 [GRCh38] Chr11:6630512 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.89+13G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002189032] |
Chr11:6604373 [GRCh38] Chr11:6625603 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1209+13C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002087984] |
Chr11:6610291 [GRCh38] Chr11:6631522 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1210-13C>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002213149] |
Chr11:6610449 [GRCh38] Chr11:6631680 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.588G>A (p.Leu196=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002114873] |
Chr11:6609126 [GRCh38] Chr11:6630357 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.978+10C>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002130871] |
Chr11:6609855 [GRCh38] Chr11:6631086 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.288G>A (p.Val96=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002150966]|not specified [RCV004631972] |
Chr11:6608426 [GRCh38] Chr11:6629656 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.924A>G (p.Leu308=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002088780] |
Chr11:6609791 [GRCh38] Chr11:6631022 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.449-11T>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002114810] |
Chr11:6608873 [GRCh38] Chr11:6630104 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.231T>C (p.His77=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002116825]|not provided [RCV004706334]|not specified [RCV004045822] |
Chr11:6608187 [GRCh38] Chr11:6629417 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.979-20A>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002159400] |
Chr11:6609916 [GRCh38] Chr11:6631147 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1210-20T>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002177088] |
Chr11:6610442 [GRCh38] Chr11:6631673 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.533-14G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002217468] |
Chr11:6609057 [GRCh38] Chr11:6630288 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.111C>T (p.Pro37=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002219542]|not specified [RCV004045672] |
Chr11:6608067 [GRCh38] Chr11:6629297 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1079-15G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002178214] |
Chr11:6610133 [GRCh38] Chr11:6631364 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.351+18A>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002137902] |
Chr11:6608507 [GRCh38] Chr11:6629737 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1041T>C (p.Pro347=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002199329]|not specified [RCV004045540] |
Chr11:6609998 [GRCh38] Chr11:6631229 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.619-9G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002142987] |
Chr11:6609290 [GRCh38] Chr11:6630521 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1338T>C (p.Leu446=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002162157]|not specified [RCV004044984] |
Chr11:6610590 [GRCh38] Chr11:6631821 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1014T>C (p.Ala338=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002141729]|not specified [RCV004046328] |
Chr11:6609971 [GRCh38] Chr11:6631202 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.410T>C (p.Val137Ala) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003117177]|not specified [RCV004245958] |
Chr11:6608752 [GRCh38] Chr11:6629982 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.9:g.(?_6411829)_(6662844_?)dup |
duplication |
not provided [RCV003111159] |
Chr11:6411829..6662844 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 |
copy number gain |
See cases [RCV002286351] |
Chr11:230615..26881146 [GRCh37] Chr11:11p15.5-14.2 |
pathogenic |
NM_004517.4(ILK):c.98A>C (p.His33Pro) |
single nucleotide variant |
not specified [RCV004057687] |
Chr11:6608054 [GRCh38] Chr11:6629284 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.815T>G (p.Met272Arg) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003099851]|not specified [RCV004055505] |
Chr11:6609598 [GRCh38] Chr11:6630829 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.111C>A (p.Pro37=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003102823]|not specified [RCV004063027] |
Chr11:6608067 [GRCh38] Chr11:6629297 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.816G>A (p.Met272Ile) |
single nucleotide variant |
not specified [RCV004055516] |
Chr11:6609599 [GRCh38] Chr11:6630830 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1313A>C (p.Lys438Thr) |
single nucleotide variant |
not specified [RCV004058325] |
Chr11:6610565 [GRCh38] Chr11:6631796 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.493A>G (p.Lys165Glu) |
single nucleotide variant |
not specified [RCV004050259] |
Chr11:6608928 [GRCh38] Chr11:6630159 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.790C>T (p.His264Tyr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003099782]|not specified [RCV004054776] |
Chr11:6609573 [GRCh38] Chr11:6630804 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.679T>A (p.Trp227Arg) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003509728]|not specified [RCV004052819] |
Chr11:6609359 [GRCh38] Chr11:6630590 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 |
copy number gain |
not provided [RCV002472435] |
Chr11:230616..8250724 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_004517.4(ILK):c.885G>C (p.Val295=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005097287]|not specified [RCV004054823] |
Chr11:6609752 [GRCh38] Chr11:6630983 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.72G>A (p.Glu24=) |
single nucleotide variant |
not specified [RCV004055870] |
Chr11:6604343 [GRCh38] Chr11:6625573 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.478A>G (p.Asn160Asp) |
single nucleotide variant |
not specified [RCV004052135] |
Chr11:6608913 [GRCh38] Chr11:6630144 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.876C>T (p.Ser292=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003103531]|not specified [RCV004056693] |
Chr11:6609743 [GRCh38] Chr11:6630974 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.895T>C (p.Leu299=) |
single nucleotide variant |
not specified [RCV004054893] |
Chr11:6609762 [GRCh38] Chr11:6630993 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.475C>G (p.Leu159Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003621632]|not specified [RCV004052078] |
Chr11:6608910 [GRCh38] Chr11:6630141 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.140C>G (p.Ser47Cys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003095112]|not specified [RCV004057172] |
Chr11:6608096 [GRCh38] Chr11:6629326 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1001G>A (p.Arg334Gln) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003621644]|not specified [RCV004058269] |
Chr11:6609958 [GRCh38] Chr11:6631189 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.655G>A (p.Val219Met) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003098289]|not specified [RCV004054401] |
Chr11:6609335 [GRCh38] Chr11:6630566 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.63C>T (p.Asp21=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003098233]|not specified [RCV004053940] |
Chr11:6604334 [GRCh38] Chr11:6625564 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.591G>A (p.Thr197=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003509724]|not specified [RCV004054269] |
Chr11:6609129 [GRCh38] Chr11:6630360 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_004517.4(ILK):c.149T>C (p.Val50Ala) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003621648]|not specified [RCV004058538] |
Chr11:6608105 [GRCh38] Chr11:6629335 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1089G>A (p.Lys363=) |
single nucleotide variant |
not specified [RCV004061941] |
Chr11:6610158 [GRCh38] Chr11:6631389 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1163G>A (p.Arg388Gln) |
single nucleotide variant |
not specified [RCV004051262] |
Chr11:6610232 [GRCh38] Chr11:6631463 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.136C>T (p.Arg46Cys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003095043]|not specified [RCV004058878] |
Chr11:6608092 [GRCh38] Chr11:6629322 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.394T>G (p.Tyr132Asp) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003621627]|not specified [RCV004050464] |
Chr11:6608736 [GRCh38] Chr11:6629966 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1104A>C (p.Thr368=) |
single nucleotide variant |
not specified [RCV004062754] |
Chr11:6610173 [GRCh38] Chr11:6631404 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.213G>A (p.Leu71=) |
single nucleotide variant |
not specified [RCV004060993] |
Chr11:6608169 [GRCh38] Chr11:6629399 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.207C>G (p.Thr69=) |
single nucleotide variant |
not specified [RCV004060255] |
Chr11:6608163 [GRCh38] Chr11:6629393 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.846T>C (p.His282=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003509741]|not specified [RCV004056171] |
Chr11:6609629 [GRCh38] Chr11:6630860 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.427C>A (p.Pro143Thr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003094620]|not specified [RCV004049898] |
Chr11:6608769 [GRCh38] Chr11:6629999 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1089G>T (p.Lys363Asn) |
single nucleotide variant |
not specified [RCV004061946] |
Chr11:6610158 [GRCh38] Chr11:6631389 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.738G>T (p.Ser246=) |
single nucleotide variant |
not specified [RCV004055971] |
Chr11:6609521 [GRCh38] Chr11:6630752 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.818C>A (p.Pro273Gln) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005097201]|not specified [RCV004055526] |
Chr11:6609601 [GRCh38] Chr11:6630832 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.901A>T (p.Met301Leu) |
single nucleotide variant |
not specified [RCV004054933] |
Chr11:6609768 [GRCh38] Chr11:6630999 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.230A>G (p.His77Arg) |
single nucleotide variant |
not specified [RCV004062644] |
Chr11:6608186 [GRCh38] Chr11:6629416 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.52C>T (p.Leu18=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003621634]|not specified [RCV004052367] |
Chr11:6604323 [GRCh38] Chr11:6625553 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.597C>A (p.Leu199=) |
single nucleotide variant |
not specified [RCV004052512] |
Chr11:6609135 [GRCh38] Chr11:6630366 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.246T>A (p.Ile82=) |
single nucleotide variant |
not specified [RCV004063928] |
Chr11:6608202 [GRCh38] Chr11:6629432 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.364A>T (p.Asn122Tyr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003102416]|not specified [RCV004049569] |
Chr11:6608706 [GRCh38] Chr11:6629936 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.205A>T (p.Thr69Ser) |
single nucleotide variant |
not specified [RCV004059672] |
Chr11:6608161 [GRCh38] Chr11:6629391 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.94G>A (p.Asp32Asn) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005097344]|not specified [RCV004056865] |
Chr11:6608050 [GRCh38] Chr11:6629280 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.482G>A (p.Arg161His) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003775973]|not specified [RCV004052203] |
Chr11:6608917 [GRCh38] Chr11:6630148 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.639G>A (p.Gln213=) |
single nucleotide variant |
not specified [RCV004053934] |
Chr11:6609319 [GRCh38] Chr11:6630550 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1032C>T (p.Phe344=) |
single nucleotide variant |
not specified [RCV004057090] |
Chr11:6609989 [GRCh38] Chr11:6631220 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.432G>A (p.Leu144=) |
single nucleotide variant |
not specified [RCV004050005] |
Chr11:6608774 [GRCh38] Chr11:6630004 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.515C>A (p.Thr172Asn) |
single nucleotide variant |
not specified [RCV004051103] |
Chr11:6608950 [GRCh38] Chr11:6630181 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.261G>A (p.Leu87=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002993802]|not specified [RCV004632131] |
Chr11:6608399 [GRCh38] Chr11:6629629 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.856+16G>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002775876] |
Chr11:6609655 [GRCh38] Chr11:6630886 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.641G>A (p.Gly214Asp) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002947587] |
Chr11:6609321 [GRCh38] Chr11:6630552 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1210-11T>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002727193] |
Chr11:6610451 [GRCh38] Chr11:6631682 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.15C>T (p.Phe5=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002614520] |
Chr11:6604286 [GRCh38] Chr11:6625516 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.556T>C (p.Ser186Pro) |
single nucleotide variant |
not specified [RCV004103732] |
Chr11:6609094 [GRCh38] Chr11:6630325 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1210-17T>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002948638] |
Chr11:6610445 [GRCh38] Chr11:6631676 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1075G>A (p.Glu359Lys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002639377] |
Chr11:6610032 [GRCh38] Chr11:6631263 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1355A>C (p.Lys452Thr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002885475] |
Chr11:6610607 [GRCh38] Chr11:6631838 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.532+13T>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003035838] |
Chr11:6608980 [GRCh38] Chr11:6630211 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1263G>A (p.Val421=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002780485] |
Chr11:6610515 [GRCh38] Chr11:6631746 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.865G>A (p.Val289Met) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003077342] |
Chr11:6609732 [GRCh38] Chr11:6630963 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.707A>T (p.Asn236Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002705395] |
Chr11:6609387 [GRCh38] Chr11:6630618 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.264G>C (p.Gln88His) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002740033] |
Chr11:6608402 [GRCh38] Chr11:6629632 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1210-18T>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003035587] |
Chr11:6610444 [GRCh38] Chr11:6631675 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.266A>C (p.Tyr89Ser) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002761695] |
Chr11:6608404 [GRCh38] Chr11:6629634 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1074C>T (p.Pro358=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002639969] |
Chr11:6610031 [GRCh38] Chr11:6631262 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.792T>A (p.His264Gln) |
single nucleotide variant |
not specified [RCV004175585] |
Chr11:6609575 [GRCh38] Chr11:6630806 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.518C>T (p.Thr173Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003081927]|not specified [RCV004927876] |
Chr11:6608953 [GRCh38] Chr11:6630184 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.945C>T (p.Ile315=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002890705] |
Chr11:6609812 [GRCh38] Chr11:6631043 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.700G>A (p.Asp234Asn) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003057192] |
Chr11:6609380 [GRCh38] Chr11:6630611 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1275G>A (p.Met425Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002917537] |
Chr11:6610527 [GRCh38] Chr11:6631758 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.520C>T (p.Arg174Cys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002667935]|not provided [RCV003491138] |
Chr11:6608955 [GRCh38] Chr11:6630186 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.354C>T (p.Asp118=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003065313] |
Chr11:6608696 [GRCh38] Chr11:6629926 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.532C>T (p.Arg178Ter) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002720181] |
Chr11:6608967 [GRCh38] Chr11:6630198 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.972T>C (p.Ser324=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002602848] |
Chr11:6609839 [GRCh38] Chr11:6631070 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.618+5C>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003092105] |
Chr11:6609161 [GRCh38] Chr11:6630392 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.619C>G (p.Leu207Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003029550] |
Chr11:6609299 [GRCh38] Chr11:6630530 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.581A>C (p.Asn194Thr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003044704] |
Chr11:6609119 [GRCh38] Chr11:6630350 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.238C>T (p.Arg80Cys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003061146]|not specified [RCV004070448] |
Chr11:6608194 [GRCh38] Chr11:6629424 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.449-3T>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002857452] |
Chr11:6608881 [GRCh38] Chr11:6630112 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.618+16_618+18del |
microsatellite |
Primary familial hypertrophic cardiomyopathy [RCV002938300] |
Chr11:6609169..6609171 [GRCh38] Chr11:6630400..6630402 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.449-15_449-12del |
deletion |
Primary familial hypertrophic cardiomyopathy [RCV002647592] |
Chr11:6608867..6608870 [GRCh38] Chr11:6630098..6630101 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1210-11T>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002577633] |
Chr11:6610451 [GRCh38] Chr11:6631682 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.729-15C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002651844] |
Chr11:6609497 [GRCh38] Chr11:6630728 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1105_1108del (p.Asn369fs) |
deletion |
ILK-related disorder [RCV003410017]|Primary familial hypertrophic cardiomyopathy [RCV002988579] |
Chr11:6610171..6610174 [GRCh38] Chr11:6631402..6631405 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.274G>A (p.Asp92Asn) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002856599] |
Chr11:6608412 [GRCh38] Chr11:6629642 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.794C>T (p.Pro265Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003067610] |
Chr11:6609577 [GRCh38] Chr11:6630808 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.649A>T (p.Ile217Phe) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003070503] |
Chr11:6609329 [GRCh38] Chr11:6630560 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.961A>G (p.Asn321Asp) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002607192] |
Chr11:6609828 [GRCh38] Chr11:6631059 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.377T>C (p.Val126Ala) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003067648] |
Chr11:6608719 [GRCh38] Chr11:6629949 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.729-20C>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002588675] |
Chr11:6609492 [GRCh38] Chr11:6630723 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1229G>A (p.Arg410Gln) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002612079] |
Chr11:6610481 [GRCh38] Chr11:6631712 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.440T>C (p.Leu147Pro) |
single nucleotide variant |
not specified [RCV004264563] |
Chr11:6608782 [GRCh38] Chr11:6630012 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.713A>T (p.Glu238Val) |
single nucleotide variant |
not specified [RCV004245083] |
Chr11:6609393 [GRCh38] Chr11:6630624 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.758T>C (p.Val253Ala) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003621686]|not specified [RCV004245084] |
Chr11:6609541 [GRCh38] Chr11:6630772 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.21G>A (p.Gln7=) |
single nucleotide variant |
not specified [RCV004245085] |
Chr11:6604292 [GRCh38] Chr11:6625522 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.127C>G (p.Arg43Gly) |
single nucleotide variant |
not specified [RCV004245086] |
Chr11:6608083 [GRCh38] Chr11:6629313 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.644A>G (p.Asn215Ser) |
single nucleotide variant |
not specified [RCV004246236] |
Chr11:6609324 [GRCh38] Chr11:6630555 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.738G>A (p.Ser246=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622312] |
Chr11:6609521 [GRCh38] Chr11:6630752 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.560G>T (p.Gly187Val) |
single nucleotide variant |
not specified [RCV004346655] |
Chr11:6609098 [GRCh38] Chr11:6630329 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.686C>T (p.Thr229Ile) |
single nucleotide variant |
not specified [RCV004364354] |
Chr11:6609366 [GRCh38] Chr11:6630597 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.513G>T (p.Gly171=) |
single nucleotide variant |
not specified [RCV004334235] |
Chr11:6608948 [GRCh38] Chr11:6630179 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.67A>T (p.Thr23Ser) |
single nucleotide variant |
not specified [RCV004354286] |
Chr11:6604338 [GRCh38] Chr11:6625568 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1209+15G>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622983] |
Chr11:6610293 [GRCh38] Chr11:6631524 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.89+8G>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003623535] |
Chr11:6604368 [GRCh38] Chr11:6625598 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1305G>A (p.Lys435=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003623303] |
Chr11:6610557 [GRCh38] Chr11:6631788 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.995C>T (p.Thr332Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003623625]|not specified [RCV004927935] |
Chr11:6609952 [GRCh38] Chr11:6631183 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.838G>A (p.Val280Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003875131] |
Chr11:6609621 [GRCh38] Chr11:6630852 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.690G>A (p.Arg230=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003623680] |
Chr11:6609370 [GRCh38] Chr11:6630601 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.533-16C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003623761] |
Chr11:6609055 [GRCh38] Chr11:6630286 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1228C>T (p.Arg410Trp) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622348] |
Chr11:6610480 [GRCh38] Chr11:6631711 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.448+4dup |
duplication |
Primary familial hypertrophic cardiomyopathy [RCV003622614] |
Chr11:6608792..6608793 [GRCh38] Chr11:6630022..6630023 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.252_255+9dup |
duplication |
Primary familial hypertrophic cardiomyopathy [RCV003622624] |
Chr11:6608202..6608203 [GRCh38] Chr11:6629432..6629433 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.83A>G (p.Asn28Ser) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622841] |
Chr11:6604354 [GRCh38] Chr11:6625584 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.958C>T (p.Leu320Phe) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622537] |
Chr11:6609825 [GRCh38] Chr11:6631056 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.619-13A>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622508] |
Chr11:6609286 [GRCh38] Chr11:6630517 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.944T>C (p.Ile315Thr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622958] |
Chr11:6609811 [GRCh38] Chr11:6631042 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1031T>A (p.Phe344Tyr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622955] |
Chr11:6609988 [GRCh38] Chr11:6631219 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.729-14C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003623205] |
Chr11:6609498 [GRCh38] Chr11:6630729 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.567C>T (p.Asp189=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622349] |
Chr11:6609105 [GRCh38] Chr11:6630336 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1209+18T>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622357] |
Chr11:6610296 [GRCh38] Chr11:6631527 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1136C>T (p.Ala379Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622385] |
Chr11:6610205 [GRCh38] Chr11:6631436 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 |
copy number gain |
Russell-Silver syndrome [RCV003444025] |
Chr11:230615..8821443 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_004517.4(ILK):c.151G>C (p.Glu51Gln) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003511170] |
Chr11:6608107 [GRCh38] Chr11:6629337 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.857-12G>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003509441] |
Chr11:6609712 [GRCh38] Chr11:6630943 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.255+17T>G |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003510998] |
Chr11:6608228 [GRCh38] Chr11:6629458 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.244A>G (p.Ile82Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003510422] |
Chr11:6608200 [GRCh38] Chr11:6629430 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.542C>T (p.Thr181Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003511154] |
Chr11:6609080 [GRCh38] Chr11:6630311 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.529C>T (p.Pro177Ser) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003509297] |
Chr11:6608964 [GRCh38] Chr11:6630195 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1137A>T (p.Ala379=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003509316] |
Chr11:6610206 [GRCh38] Chr11:6631437 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1356G>A (p.Lys452=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003509183] |
Chr11:6610608 [GRCh38] Chr11:6631839 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.618+19del |
deletion |
Primary familial hypertrophic cardiomyopathy [RCV003511274] |
Chr11:6609175 [GRCh38] Chr11:6630406 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.979-14T>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003509407] |
Chr11:6609922 [GRCh38] Chr11:6631153 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.729-3T>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003511022] |
Chr11:6609509 [GRCh38] Chr11:6630740 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1169T>C (p.Val390Ala) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003824554] |
Chr11:6610238 [GRCh38] Chr11:6631469 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.527G>A (p.Arg176Gln) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003511123] |
Chr11:6608962 [GRCh38] Chr11:6630193 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1038T>A (p.Cys346Ter) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005084668] |
Chr11:6609995 [GRCh38] Chr11:6631226 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.489A>G (p.Pro163=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003840380] |
Chr11:6608924 [GRCh38] Chr11:6630155 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1123A>C (p.Met375Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003814498] |
Chr11:6610192 [GRCh38] Chr11:6631423 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.819G>C (p.Pro273=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003622207] |
Chr11:6609602 [GRCh38] Chr11:6630833 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.978+3G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003866221] |
Chr11:6609848 [GRCh38] Chr11:6631079 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.857-19_857-17del |
deletion |
Primary familial hypertrophic cardiomyopathy [RCV003622275] |
Chr11:6609705..6609707 [GRCh38] Chr11:6630936..6630938 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.978+13G>A |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV003621912] |
Chr11:6609858 [GRCh38] Chr11:6631089 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.771C>T (p.Cys257=) |
single nucleotide variant |
not specified [RCV004519035] |
Chr11:6609554 [GRCh38] Chr11:6630785 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.828C>T (p.Ser276=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005100486]|not specified [RCV004519037] |
Chr11:6609611 [GRCh38] Chr11:6630842 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_004517.4(ILK):c.472A>T (p.Asn158Tyr) |
single nucleotide variant |
not specified [RCV004519034] |
Chr11:6608907 [GRCh38] Chr11:6630138 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1068A>T (p.Val356=) |
single nucleotide variant |
not specified [RCV004519027] |
Chr11:6610025 [GRCh38] Chr11:6631256 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.186A>C (p.Val62=) |
single nucleotide variant |
not specified [RCV004519032] |
Chr11:6608142 [GRCh38] Chr11:6629372 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.953A>T (p.His318Leu) |
single nucleotide variant |
not specified [RCV004519038] |
Chr11:6609820 [GRCh38] Chr11:6631051 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1037G>A (p.Cys346Tyr) |
single nucleotide variant |
not specified [RCV004519026] |
Chr11:6609994 [GRCh38] Chr11:6631225 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.648C>T (p.Asp216=) |
single nucleotide variant |
ILK-related disorder [RCV003979446] |
Chr11:6609328 [GRCh38] Chr11:6630559 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1204A>G (p.Met402Val) |
single nucleotide variant |
not specified [RCV004519029] |
Chr11:6610273 [GRCh38] Chr11:6631504 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1245A>G (p.Pro415=) |
single nucleotide variant |
not specified [RCV004519030] |
Chr11:6610497 [GRCh38] Chr11:6631728 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.199G>A (p.Asp67Asn) |
single nucleotide variant |
not specified [RCV004519033] |
Chr11:6608155 [GRCh38] Chr11:6629385 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.818C>T (p.Pro273Leu) |
single nucleotide variant |
not specified [RCV004519036] |
Chr11:6609601 [GRCh38] Chr11:6630832 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.46G>T (p.Val16Phe) |
single nucleotide variant |
not specified [RCV004405365] |
Chr11:6604317 [GRCh38] Chr11:6625547 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.650T>C (p.Ile217Thr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005104478]|not specified [RCV004405366] |
Chr11:6609330 [GRCh38] Chr11:6630561 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.943A>G (p.Ile315Val) |
single nucleotide variant |
not specified [RCV004628113] |
Chr11:6609810 [GRCh38] Chr11:6631041 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.869A>C (p.Asp290Ala) |
single nucleotide variant |
not specified [RCV004628115] |
Chr11:6609736 [GRCh38] Chr11:6630967 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.9:g.(?_6625502)_(6631842_?)dup |
duplication |
Primary familial hypertrophic cardiomyopathy [RCV004580185] |
Chr11:6625502..6631842 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.441T>G (p.Leu147=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005059671]|not specified [RCV004628118] |
Chr11:6608783 [GRCh38] Chr11:6630013 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1182C>T (p.Asp394=) |
single nucleotide variant |
not specified [RCV004628114] |
Chr11:6610251 [GRCh38] Chr11:6631482 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.439C>T (p.Leu147Phe) |
single nucleotide variant |
not specified [RCV004628116] |
Chr11:6608781 [GRCh38] Chr11:6630011 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.515C>T (p.Thr172Ile) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005110375]|not specified [RCV004929307] |
Chr11:6608950 [GRCh38] Chr11:6630181 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1077A>C (p.Glu359Asp) |
single nucleotide variant |
not specified [RCV004929309] |
Chr11:6610034 [GRCh38] Chr11:6631265 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.852C>G (p.Gly284=) |
single nucleotide variant |
not specified [RCV004929312] |
Chr11:6609635 [GRCh38] Chr11:6630866 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.138C>A (p.Arg46=) |
single nucleotide variant |
not specified [RCV004929315] |
Chr11:6608094 [GRCh38] Chr11:6629324 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.157T>C (p.Leu53=) |
single nucleotide variant |
not specified [RCV004929316] |
Chr11:6608113 [GRCh38] Chr11:6629343 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.186A>G (p.Val62=) |
single nucleotide variant |
not specified [RCV004929317] |
Chr11:6608142 [GRCh38] Chr11:6629372 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.132G>A (p.Glu44=) |
single nucleotide variant |
not specified [RCV004929320] |
Chr11:6608088 [GRCh38] Chr11:6629318 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.42C>T (p.Val14=) |
single nucleotide variant |
not specified [RCV004929321] |
Chr11:6604313 [GRCh38] Chr11:6625543 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.45C>G (p.Ala15=) |
single nucleotide variant |
not specified [RCV004929323] |
Chr11:6604316 [GRCh38] Chr11:6625546 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1003A>G (p.Ile335Val) |
single nucleotide variant |
not specified [RCV004929326] |
Chr11:6609960 [GRCh38] Chr11:6631191 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1068A>G (p.Val356=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005105837] |
Chr11:6610025 [GRCh38] Chr11:6631256 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.688A>G (p.Arg230Gly) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005173649] |
Chr11:6609368 [GRCh38] Chr11:6630599 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.39A>G (p.Ala13=) |
single nucleotide variant |
not specified [RCV004929322] |
Chr11:6604310 [GRCh38] Chr11:6625540 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.595C>T (p.Leu199Phe) |
single nucleotide variant |
not specified [RCV004929324] |
Chr11:6609133 [GRCh38] Chr11:6630364 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1015G>T (p.Asp339Tyr) |
single nucleotide variant |
not specified [RCV004929325] |
Chr11:6609972 [GRCh38] Chr11:6631203 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.786T>A (p.Ala262=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005110376]|not specified [RCV004929327] |
Chr11:6609569 [GRCh38] Chr11:6630800 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.931C>T (p.Leu311=) |
single nucleotide variant |
not specified [RCV004929328] |
Chr11:6609798 [GRCh38] Chr11:6631029 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.154A>G (p.Met52Val) |
single nucleotide variant |
not specified [RCV004929329] |
Chr11:6608110 [GRCh38] Chr11:6629340 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1035A>G (p.Gln345=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005086973] |
Chr11:6609992 [GRCh38] Chr11:6631223 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.729-10C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005195283] |
Chr11:6609502 [GRCh38] Chr11:6630733 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.728+17C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005087286] |
Chr11:6609425 [GRCh38] Chr11:6630656 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.879G>A (p.Gln293=) |
single nucleotide variant |
not specified [RCV004929310] |
Chr11:6609746 [GRCh38] Chr11:6630977 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1168G>A (p.Val390Ile) |
single nucleotide variant |
not specified [RCV004929311] |
Chr11:6610237 [GRCh38] Chr11:6631468 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.781C>T (p.Pro261Ser) |
single nucleotide variant |
not specified [RCV004929313] |
Chr11:6609564 [GRCh38] Chr11:6630795 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1159A>G (p.Thr387Ala) |
single nucleotide variant |
not specified [RCV004929314] |
Chr11:6610228 [GRCh38] Chr11:6631459 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.48T>C (p.Val16=) |
single nucleotide variant |
not specified [RCV004929318] |
Chr11:6604319 [GRCh38] Chr11:6625549 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.177G>A (p.Arg59=) |
single nucleotide variant |
not specified [RCV004929319] |
Chr11:6608133 [GRCh38] Chr11:6629363 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1294G>A (p.Asp432Asn) |
single nucleotide variant |
not specified [RCV004929330] |
Chr11:6610546 [GRCh38] Chr11:6631777 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1344G>A (p.Lys448=) |
single nucleotide variant |
not specified [RCV004929308] |
Chr11:6610596 [GRCh38] Chr11:6631827 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.645T>C (p.Asn215=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005204441] |
Chr11:6609325 [GRCh38] Chr11:6630556 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.75C>T (p.Asn25=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005139485] |
Chr11:6604346 [GRCh38] Chr11:6625576 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.625_636del (p.Lys209_Trp212del) |
deletion |
Primary familial hypertrophic cardiomyopathy [RCV005073853] |
Chr11:6609302..6609313 [GRCh38] Chr11:6630533..6630544 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1078+18G>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005179994] |
Chr11:6610053 [GRCh38] Chr11:6631284 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.672T>C (p.Val224=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005202477] |
Chr11:6609352 [GRCh38] Chr11:6630583 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.194G>T (p.Arg65Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005185315] |
Chr11:6608150 [GRCh38] Chr11:6629380 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.163A>T (p.Met55Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005160531] |
Chr11:6608119 [GRCh38] Chr11:6629349 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.409_446del (p.Val137fs) |
deletion |
Primary familial hypertrophic cardiomyopathy [RCV005126789] |
Chr11:6608751..6608788 [GRCh38] Chr11:6629981..6630018 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.679T>C (p.Trp227Arg) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005187431] |
Chr11:6609359 [GRCh38] Chr11:6630590 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.638A>G (p.Gln213Arg) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005142027] |
Chr11:6609318 [GRCh38] Chr11:6630549 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.36C>G (p.Asn12Lys) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005142228] |
Chr11:6604307 [GRCh38] Chr11:6625537 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.259T>C (p.Leu87=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005199027] |
Chr11:6608397 [GRCh38] Chr11:6629627 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.255+16_255+18del |
deletion |
Primary familial hypertrophic cardiomyopathy [RCV005144787] |
Chr11:6608226..6608228 [GRCh38] Chr11:6629456..6629458 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.29dup (p.Asn12fs) |
duplication |
Primary familial hypertrophic cardiomyopathy [RCV005131126] |
Chr11:6604299..6604300 [GRCh38] Chr11:6625529..6625530 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1048A>C (p.Met350Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005070932] |
Chr11:6610005 [GRCh38] Chr11:6631236 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.723G>A (p.Arg241=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005081035] |
Chr11:6609403 [GRCh38] Chr11:6630634 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1138G>A (p.Val380Met) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005139101] |
Chr11:6610207 [GRCh38] Chr11:6631438 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.122C>T (p.Ala41Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005142155] |
Chr11:6608078 [GRCh38] Chr11:6629308 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.952C>T (p.His318Tyr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005164959] |
Chr11:6609819 [GRCh38] Chr11:6631050 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.663G>T (p.Val221=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005118252] |
Chr11:6609343 [GRCh38] Chr11:6630574 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.628G>A (p.Gly210Ser) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005082223] |
Chr11:6609308 [GRCh38] Chr11:6630539 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1225dup (p.Leu409fs) |
duplication |
Primary familial hypertrophic cardiomyopathy [RCV005156994] |
Chr11:6610475..6610476 [GRCh38] Chr11:6631706..6631707 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.880G>A (p.Ala294Thr) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005131644] |
Chr11:6609747 [GRCh38] Chr11:6630978 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.247G>T (p.Val83Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005199678] |
Chr11:6608203 [GRCh38] Chr11:6629433 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.256-14G>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005108421] |
Chr11:6608380 [GRCh38] Chr11:6629610 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1259_1260del (p.His420fs) |
deletion |
Primary familial hypertrophic cardiomyopathy [RCV005068850] |
Chr11:6610511..6610512 [GRCh38] Chr11:6631742..6631743 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1273A>C (p.Met425Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005127372] |
Chr11:6610525 [GRCh38] Chr11:6631756 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.533-11C>T |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005149965] |
Chr11:6609060 [GRCh38] Chr11:6630291 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.810C>T (p.His270=) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005179641] |
Chr11:6609593 [GRCh38] Chr11:6630824 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.562A>G (p.Ile188Val) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005202917] |
Chr11:6609100 [GRCh38] Chr11:6630331 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.728+8A>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV005184442] |
Chr11:6609416 [GRCh38] Chr11:6630647 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.173C>T (p.Ala58Val) |
single nucleotide variant |
not specified [RCV004519031] |
Chr11:6608129 [GRCh38] Chr11:6629359 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 |
copy number gain |
Silver-Russell syndrome 1 [RCV001263222] |
Chr11:210300..8664358 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_004517.4(ILK):c.764G>T (p.Gly255Val) |
single nucleotide variant |
not provided [RCV002223388] |
Chr11:6609547 [GRCh38] Chr11:6630778 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.856+14T>C |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV002097533] |
Chr11:6609653 [GRCh38] Chr11:6630884 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_004517.4(ILK):c.1093C>G (p.Pro365Ala) |
single nucleotide variant |
not specified [RCV004245082] |
Chr11:6610162 [GRCh38] Chr11:6631393 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_004517.4(ILK):c.1153C>A (p.Leu385Met) |
single nucleotide variant |
not specified [RCV004519028] |
Chr11:6610222 [GRCh38] Chr11:6631453 [GRCh37] Chr11:11p15.4 |
uncertain significance |