GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 |
copy number loss |
See cases [RCV000050602] |
Chr17:15898032..20620700 [GRCh38] Chr17:15801346..20524013 [GRCh37] Chr17:15742071..20464605 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 |
copy number gain |
See cases [RCV000050622] |
Chr17:16879232..20390725 [GRCh38] Chr17:16782546..20294038 [GRCh37] Chr17:16723271..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 |
copy number loss |
See cases [RCV000050624] |
Chr17:16879232..20390725 [GRCh38] Chr17:16782546..20294038 [GRCh37] Chr17:16723271..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 |
copy number gain |
See cases [RCV000051852] |
Chr17:15259164..20925299 [GRCh38] Chr17:15162481..20828612 [GRCh37] Chr17:15103206..20769204 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 |
copy number gain |
See cases [RCV000051853] |
Chr17:15897832..20620841 [GRCh38] Chr17:15801146..20524154 [GRCh37] Chr17:15741871..20464746 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 |
copy number gain |
See cases [RCV000051876] |
Chr17:16836827..20340442 [GRCh38] Chr17:16740141..20243755 [GRCh37] Chr17:16680866..20184347 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 |
copy number gain |
See cases [RCV000051877] |
Chr17:16836827..20504849 [GRCh38] Chr17:16740141..20408162 [GRCh37] Chr17:16680866..20348754 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 |
copy number gain |
See cases [RCV000051855] |
Chr17:16656168..20390725 [GRCh38] Chr17:16559482..20294038 [GRCh37] Chr17:16500207..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3 |
copy number gain |
See cases [RCV000051879] |
Chr17:16919369..20289856 [GRCh38] Chr17:16822683..20193169 [GRCh37] Chr17:16763408..20133761 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 |
copy number gain |
See cases [RCV000051858] |
Chr17:16692462..20390725 [GRCh38] Chr17:16595776..20294038 [GRCh37] Chr17:16536501..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 |
copy number gain |
See cases [RCV000051860] |
Chr17:16713514..20582527 [GRCh38] Chr17:16616828..20485840 [GRCh37] Chr17:16557553..20426432 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 |
copy number gain |
See cases [RCV000051849] |
Chr17:15234685..20620700 [GRCh38] Chr17:15138002..20524013 [GRCh37] Chr17:15078727..20464605 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 |
copy number gain |
See cases [RCV000051871] |
Chr17:16713515..20340442 [GRCh38] Chr17:16616829..20243755 [GRCh37] Chr17:16557554..20184347 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 |
copy number gain |
See cases [RCV000051872] |
Chr17:16760817..20429770 [GRCh38] Chr17:16664131..20333083 [GRCh37] Chr17:16604856..20273675 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 |
copy number gain |
See cases [RCV000051873] |
Chr17:16760818..20504849 [GRCh38] Chr17:16664132..20408162 [GRCh37] Chr17:16604857..20348754 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 |
copy number loss |
See cases [RCV000054330] |
Chr17:16060129..20620841 [GRCh38] Chr17:15963443..20524154 [GRCh37] Chr17:15904168..20464746 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 |
copy number loss |
See cases [RCV000054337] |
Chr17:16760818..20390725 [GRCh38] Chr17:16664132..20294038 [GRCh37] Chr17:16604857..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3 |
copy number gain |
See cases [RCV000054008] |
Chr17:18828089..20467764 [GRCh38] Chr17:18731402..20371077 [GRCh37] Chr17:18672127..20311669 [NCBI36] Chr17:17p11.2 |
uncertain significance |
GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3 |
copy number gain |
See cases [RCV000054009] |
Chr17:19070690..21619442 [GRCh38] Chr17:18974003..21522709 [GRCh37] Chr17:18914728..21463302 [NCBI36] Chr17:17p11.2 |
uncertain significance |
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 |
copy number loss |
See cases [RCV000054355] |
Chr17:16836827..20465067 [GRCh38] Chr17:16740141..20368380 [GRCh37] Chr17:16680866..20308972 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 |
copy number loss |
See cases [RCV000054356] |
Chr17:16858444..20340442 [GRCh38] Chr17:16761758..20243755 [GRCh37] Chr17:16702483..20184347 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:19239860-21530183)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054010]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054010]|See cases [RCV000054010] |
Chr17:19239860..21530183 [GRCh38] Chr17:19143173..21433444 [GRCh37] Chr17:19083766..21374037 [NCBI36] Chr17:17p11.2 |
uncertain significance |
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 |
copy number loss |
See cases [RCV000054357] |
Chr17:16858444..20465067 [GRCh38] Chr17:16761758..20368380 [GRCh37] Chr17:16702483..20308972 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1 |
copy number loss |
See cases [RCV000133724] |
Chr17:18872617..20316151 [GRCh38] Chr17:18775930..20219464 [GRCh37] Chr17:18716655..20160056 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 |
copy number gain |
See cases [RCV000133695] |
Chr17:16879232..20316151 [GRCh38] Chr17:16782546..20219464 [GRCh37] Chr17:16723271..20160056 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 |
copy number gain |
See cases [RCV000134467] |
Chr17:16854250..20492169 [GRCh38] Chr17:16757564..20395482 [GRCh37] Chr17:16698289..20336074 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1 |
copy number loss |
See cases [RCV000135874] |
Chr17:17331511..20022528 [GRCh38] Chr17:17234825..19925841 [GRCh37] Chr17:17175550..19866433 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 |
copy number loss |
See cases [RCV000135996] |
Chr17:16879233..20390697 [GRCh38] Chr17:16782547..20294010 [GRCh37] Chr17:16723272..20234602 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 |
copy number gain |
See cases [RCV000135997] |
Chr17:16734558..20390697 [GRCh38] Chr17:16637872..20294010 [GRCh37] Chr17:16578597..20234602 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 |
copy number loss |
See cases [RCV000135998] |
Chr17:16734558..20390697 [GRCh38] Chr17:16637872..20294010 [GRCh37] Chr17:16578597..20234602 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 |
copy number loss |
See cases [RCV000136906] |
Chr17:16734588..20390725 [GRCh38] Chr17:16637902..20294038 [GRCh37] Chr17:16578627..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 |
copy number loss |
See cases [RCV000136951] |
Chr17:16734588..20316151 [GRCh38] Chr17:16637902..20219464 [GRCh37] Chr17:16578627..20160056 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1 |
copy number loss |
See cases [RCV000137991] |
Chr17:18859289..20316151 [GRCh38] Chr17:18762602..20219464 [GRCh37] Chr17:18703327..20160056 [NCBI36] Chr17:17p11.2 |
likely pathogenic |
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1 |
copy number loss |
See cases [RCV000137974] |
Chr17:16699816..20390725 [GRCh38] Chr17:16603130..20294038 [GRCh37] Chr17:16543855..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic|likely benign |
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 |
copy number gain |
See cases [RCV000138255] |
Chr17:16854250..20492214 [GRCh38] Chr17:16757564..20395527 [GRCh37] Chr17:16698289..20336119 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1 |
copy number loss |
See cases [RCV000139239] |
Chr17:16989087..20370816 [GRCh38] Chr17:16892401..20274129 [GRCh37] Chr17:16833126..20214721 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 |
copy number gain |
See cases [RCV000139188] |
Chr17:16854250..20560048 [GRCh38] Chr17:16757564..20463361 [GRCh37] Chr17:16698289..20403953 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 |
copy number gain |
See cases [RCV000140217] |
Chr17:16699694..20530646 [GRCh38] Chr17:16603008..20433959 [GRCh37] Chr17:16543733..20374551 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 |
copy number loss |
See cases [RCV000139510] |
Chr17:15883037..20620700 [GRCh38] Chr17:15786351..20524013 [GRCh37] Chr17:15727076..20464605 [NCBI36] Chr17:17p12-11.2 |
pathogenic|likely pathogenic |
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 |
copy number loss |
See cases [RCV000139558] |
Chr17:16656162..20390697 [GRCh38] Chr17:16559476..20294010 [GRCh37] Chr17:16500201..20234602 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1 |
copy number loss |
See cases [RCV000141105] |
Chr17:17018951..20148630 [GRCh38] Chr17:16922265..20051943 [GRCh37] Chr17:16862990..19992535 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 |
copy number gain |
See cases [RCV000140852] |
Chr17:16699816..20492214 [GRCh38] Chr17:16603130..20395527 [GRCh37] Chr17:16543855..20336119 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 |
copy number loss |
See cases [RCV000141975] |
Chr17:16838097..20436415 [GRCh38] Chr17:16741411..20339728 [GRCh37] Chr17:16682136..20280320 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 |
copy number gain |
See cases [RCV000142075] |
Chr17:16858500..20570955 [GRCh38] Chr17:16761814..20474268 [GRCh37] Chr17:16702539..20414860 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 |
copy number gain |
See cases [RCV000143381] |
Chr17:16696708..20492860 [GRCh38] Chr17:16600022..20396173 [GRCh37] Chr17:16540747..20336765 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 |
copy number gain |
See cases [RCV000143417] |
Chr17:16718415..20546210 [GRCh38] Chr17:16621729..20449523 [GRCh37] Chr17:16562454..20390115 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 |
copy number loss |
See cases [RCV000143210] |
Chr17:16858500..20559337 [GRCh38] Chr17:16761814..20462650 [GRCh37] Chr17:16702539..20403242 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 |
copy number loss |
See cases [RCV000143177] |
Chr17:15883037..20658018 [GRCh38] Chr17:15786351..20561331 [GRCh37] Chr17:15727076..20501923 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 |
copy number loss |
See cases [RCV000143181] |
Chr17:16699816..20428292 [GRCh38] Chr17:16603130..20331605 [GRCh37] Chr17:16543855..20272197 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 |
copy number gain |
See cases [RCV000143715] |
Chr17:16426633..20998588 [GRCh38] Chr17:16329947..20901901 [GRCh37] Chr17:16270672..20842493 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 |
copy number loss |
See cases [RCV000143650] |
Chr17:15850859..20649235 [GRCh38] Chr17:15754173..20552548 [GRCh37] Chr17:15694898..20493140 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 |
copy number loss |
See cases [RCV000143596] |
Chr17:16853120..20436482 [GRCh38] Chr17:16756434..20339795 [GRCh37] Chr17:16697159..20280387 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 |
copy number loss |
See cases [RCV000143485] |
Chr17:15729893..20510251 [GRCh38] Chr17:15633207..20413564 [GRCh37] Chr17:15573932..20354156 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
NM_002749.4(MAPK7):c.1760C>T (p.Pro587Leu) |
single nucleotide variant |
Scoliosis, isolated, susceptibility to, 1 [RCV000656382] |
Chr17:19382063 [GRCh38] Chr17:19285376 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:19277390-19288730)x3 |
copy number gain |
See cases [RCV000449072] |
Chr17:19277390..19288730 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1 |
copy number loss |
See cases [RCV000449069] |
Chr17:16603130..20261191 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 |
copy number gain |
See cases [RCV000240104] |
Chr17:15767020..20261250 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1 |
copy number loss |
See cases [RCV000239910] |
Chr17:17053390..19893098 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1 |
copy number loss |
See cases [RCV000240274] |
Chr17:16654302..20261250 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_002749.4(MAPK7):c.1106G>A (p.Arg369His) |
single nucleotide variant |
Inborn genetic diseases [RCV003246045] |
Chr17:19381315 [GRCh38] Chr17:19284628 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1627C>T (p.Arg543Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003242874] |
Chr17:19381930 [GRCh38] Chr17:19285243 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1943C>T (p.Pro648Leu) |
single nucleotide variant |
Scoliosis, isolated, susceptibility to, 1 [RCV000656383] |
Chr17:19382246 [GRCh38] Chr17:19285559 [GRCh37] Chr17:17p11.2 |
pathogenic |
arr[hg19]17p11.2(16,757,111-20,219,651)x3 |
duplication |
Potocki-Lupski syndrome [RCV000591005] |
Chr17:16757111..20219651 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3 |
copy number gain |
See cases [RCV000449384] |
Chr17:16740141..20261191 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 |
copy number loss |
See cases [RCV000447345] |
Chr17:10771948..21510992 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 |
copy number loss |
See cases [RCV000446498] |
Chr17:15745315..20261191 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1 |
copy number loss |
See cases [RCV000446300] |
Chr17:16761814..20304295 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1 |
copy number loss |
See cases [RCV000446465] |
Chr17:16637902..20261250 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3 |
copy number gain |
See cases [RCV000445753] |
Chr17:16741771..20430791 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1 |
copy number loss |
See cases [RCV000448145] |
Chr17:16757564..20261191 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1 |
copy number loss |
See cases [RCV000448636] |
Chr17:16741411..20304154 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1 |
copy number loss |
See cases [RCV000448404] |
Chr17:16741411..20449523 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1 |
copy number loss |
See cases [RCV000447955] |
Chr17:16741411..20408379 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1 |
copy number loss |
See cases [RCV000448752] |
Chr17:16761814..20462723 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16772264-20433502)x3 |
copy number gain |
See cases [RCV000448097] |
Chr17:16772264..20433502 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1 |
copy number loss |
See cases [RCV000510506] |
Chr17:16745600..20396173 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1 |
copy number loss |
See cases [RCV000510254] |
Chr17:17200426..21900910 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3 |
copy number gain |
See cases [RCV000510267] |
Chr17:16761814..20339795 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1 |
copy number loss |
See cases [RCV000511412] |
Chr17:16727264..20413564 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1 |
copy number loss |
See cases [RCV000511915] |
Chr17:16772264..20297091 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1 |
copy number loss |
See cases [RCV000511460] |
Chr17:16741411..20410218 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3 |
copy number gain |
See cases [RCV000511433] |
Chr17:16738161..20338182 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1 |
copy number loss |
See cases [RCV000511111] |
Chr17:16727264..20395889 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x1 |
copy number loss |
See cases [RCV000510808] |
Chr17:19144143..20231379 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3 |
copy number gain |
See cases [RCV000511042] |
Chr17:16651292..20437532 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16842163-20217777) |
copy number gain |
Delayed speech and language development [RCV000626511] |
Chr17:16842163..20217777 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_002749.4(MAPK7):c.886G>A (p.Ala296Thr) |
single nucleotide variant |
Scoliosis, isolated, susceptibility to, 1 [RCV000656381] |
Chr17:19381095 [GRCh38] Chr17:19284408 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16782546-20294038) |
copy number loss |
Sleep abnormality [RCV000626510] |
Chr17:16782546..20294038 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3 |
copy number gain |
See cases [RCV000512356] |
Chr17:16591260..20473937 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1 |
copy number loss |
See cases [RCV000512446] |
Chr17:16741411..20489023 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3 |
copy number gain |
See cases [RCV000512434] |
Chr17:19144143..20231379 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1 |
copy number loss |
not provided [RCV000683897] |
Chr17:16727264..20310241 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1 |
copy number loss |
not provided [RCV000683901] |
Chr17:16999980..20298979 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1 |
copy number loss |
not provided [RCV000683902] |
Chr17:17021607..20015978 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:18743223-20246715)x3 |
copy number gain |
not provided [RCV000683907] |
Chr17:18743223..20246715 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1 |
copy number loss |
not provided [RCV000683898] |
Chr17:16741411..20430791 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3 |
copy number gain |
not provided [RCV000683900] |
Chr17:16761814..20292897 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16768248-20391959)x1 |
copy number loss |
not provided [RCV000739423] |
Chr17:16768248..20391959 [GRCh37] Chr17:17p11.2 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754201] |
Chr17:16770855..20422847 [GRCh38] Chr17:17p11.2 |
pathogenic |
NC_000017.11:g.(?_16770855)_(20585863_?)del |
deletion |
Autism [RCV000754202] |
Chr17:16770855..20585863 [GRCh38] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1 |
copy number loss |
not provided [RCV000739417] |
Chr17:16660721..20417975 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:19247504-19395911)x3 |
copy number gain |
not provided [RCV000751954] |
Chr17:19247504..19395911 [GRCh37] Chr17:17p11.2 |
benign |
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3 |
copy number gain |
not provided [RCV000751941] |
Chr17:15796140..20331131 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16842991-20217316) |
copy number loss |
Smith-Magenis syndrome [RCV000767738] |
Chr17:16842991..20217316 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16651292-20286898) |
copy number loss |
Smith-Magenis syndrome [RCV002280651] |
Chr17:16651292..20286898 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3 |
copy number gain |
not provided [RCV000848946] |
Chr17:19144143..20231379 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16664739-20370783) |
copy number gain |
Potocki-Lupski syndrome [RCV003236713] |
Chr17:16664739..20370783 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_002749.4(MAPK7):c.1377C>T (p.Val459=) |
single nucleotide variant |
not provided [RCV000910941] |
Chr17:19381586 [GRCh38] Chr17:19284899 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_002749.4(MAPK7):c.1651C>T (p.Pro551Ser) |
single nucleotide variant |
not provided [RCV000957575] |
Chr17:19381954 [GRCh38] Chr17:19285267 [GRCh37] Chr17:17p11.2 |
benign |
GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1 |
copy number loss |
not provided [RCV001259291] |
Chr17:16763370..20395611 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1 |
copy number loss |
not provided [RCV001259295] |
Chr17:18746987..20231379 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:17151140-20187953) |
copy number loss |
Smith-Magenis syndrome [RCV002280652] |
Chr17:17151140..20187953 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3 |
copy number gain |
not provided [RCV001259290] |
Chr17:16761814..20330062 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:17145361-20137943) |
copy number loss |
Smith-Magenis syndrome [RCV001352632] |
Chr17:17145361..20137943 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16601603-20063369) |
copy number gain |
Potocki-Lupski syndrome [RCV001352635] |
Chr17:16601603..20063369 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3 |
copy number gain |
Potocki-Lupski syndrome [RCV001801179] |
Chr17:16829153..20361747 [GRCh37] Chr17:17p11.2 |
pathogenic |
Single allele |
complex |
PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690] |
Chr17:14876984..22124952 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
NC_000017.10:g.(?_16842861)_(19578885_?)del |
deletion |
Immunodeficiency, common variable, 2 [RCV002049406]|Joubert syndrome [RCV002047402] |
Chr17:16842861..19578885 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1 |
copy number loss |
not provided [RCV002211424] |
Chr17:16664739..20217378 [GRCh37] Chr17:17p11.2 |
pathogenic |
NC_000017.10:g.(?_19246632)_(19578885_?)dup |
duplication |
not provided [RCV003111130] |
Chr17:19246632..19578885 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NC_000017.10:g.(?_16842861)_(19578885_?)dup |
duplication |
Familial aplasia of the vermis [RCV003116613]|Immunodeficiency, common variable, 2 [RCV003116614] |
Chr17:16842861..19578885 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3 |
copy number gain |
See cases [RCV002292216] |
Chr17:16736709..20339460 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3 |
copy number gain |
not provided [RCV002474502] |
Chr17:17103571..19331028 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_002749.4(MAPK7):c.362T>C (p.Leu121Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002860085] |
Chr17:19379911 [GRCh38] Chr17:19283224 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1441G>T (p.Ala481Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002840542] |
Chr17:19381650 [GRCh38] Chr17:19284963 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NC_000017.11:g.(?_18856298)_(20402192_?)del |
deletion |
Meckel syndrome, type 9 [RCV000024099] |
Chr17:18856298..20402192 [GRCh38] Chr17:17p11.2 |
pathogenic |
NM_002749.4(MAPK7):c.1261A>G (p.Ser421Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002774142] |
Chr17:19381470 [GRCh38] Chr17:19284783 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1490C>T (p.Ala497Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002776762] |
Chr17:19381793 [GRCh38] Chr17:19285106 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1072G>C (p.Asp358His) |
single nucleotide variant |
Inborn genetic diseases [RCV002778463] |
Chr17:19381281 [GRCh38] Chr17:19284594 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1532A>G (p.Gln511Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002902706] |
Chr17:19381835 [GRCh38] Chr17:19285148 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.478C>T (p.Arg160Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002997561] |
Chr17:19380687 [GRCh38] Chr17:19284000 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1205A>G (p.Gln402Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002688514] |
Chr17:19381414 [GRCh38] Chr17:19284727 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.2390G>A (p.Arg797His) |
single nucleotide variant |
Inborn genetic diseases [RCV002821569] |
Chr17:19383170 [GRCh38] Chr17:19286483 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.853G>A (p.Val285Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002950707] |
Chr17:19381062 [GRCh38] Chr17:19284375 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1982C>T (p.Thr661Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002844606] |
Chr17:19382285 [GRCh38] Chr17:19285598 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.986G>A (p.Arg329His) |
single nucleotide variant |
Inborn genetic diseases [RCV002926221] |
Chr17:19381195 [GRCh38] Chr17:19284508 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1301C>T (p.Pro434Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002849799] |
Chr17:19381510 [GRCh38] Chr17:19284823 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1229G>A (p.Ser410Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002699122] |
Chr17:19381438 [GRCh38] Chr17:19284751 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1745C>G (p.Ala582Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002930762] |
Chr17:19382048 [GRCh38] Chr17:19285361 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.290A>G (p.Lys97Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002763173] |
Chr17:19379839 [GRCh38] Chr17:19283152 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.977G>A (p.Arg326His) |
single nucleotide variant |
Inborn genetic diseases [RCV002983957] |
Chr17:19381186 [GRCh38] Chr17:19284499 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1000G>A (p.Ala334Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002853815] |
Chr17:19381209 [GRCh38] Chr17:19284522 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.650T>C (p.Phe217Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002719205] |
Chr17:19380859 [GRCh38] Chr17:19284172 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1502C>T (p.Ala501Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002878261] |
Chr17:19381805 [GRCh38] Chr17:19285118 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1351C>G (p.Leu451Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002719355] |
Chr17:19381560 [GRCh38] Chr17:19284873 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.2189T>A (p.Phe730Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002854742] |
Chr17:19382838 [GRCh38] Chr17:19286151 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.373G>A (p.Val125Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002989388] |
Chr17:19379922 [GRCh38] Chr17:19283235 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.884G>A (p.Arg295Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002655853] |
Chr17:19381093 [GRCh38] Chr17:19284406 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1219C>T (p.Pro407Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003219238] |
Chr17:19381428 [GRCh38] Chr17:19284741 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.2099C>T (p.Pro700Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003184186] |
Chr17:19382402 [GRCh38] Chr17:19285715 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1 |
copy number loss |
not provided [RCV003222939] |
Chr17:17116969..20217378 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_002749.4(MAPK7):c.794A>G (p.Lys265Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003366664] |
Chr17:19381003 [GRCh38] Chr17:19284316 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1538G>A (p.Arg513His) |
single nucleotide variant |
Inborn genetic diseases [RCV003368980] |
Chr17:19381841 [GRCh38] Chr17:19285154 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1079C>T (p.Ala360Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003351844] |
Chr17:19381288 [GRCh38] Chr17:19284601 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_002749.4(MAPK7):c.1229G>T (p.Ser410Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003363854] |
Chr17:19381438 [GRCh38] Chr17:19284751 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1 |
copy number loss |
not provided [RCV003483315] |
Chr17:16651293..20450566 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3 |
copy number gain |
not provided [RCV003485147] |
Chr17:18614422..22227823 [GRCh37] Chr17:17p11.2-11.1 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1 |
copy number loss |
not provided [RCV003483314] |
Chr17:15694772..20582794 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1 |
copy number loss |
not specified [RCV003987246] |
Chr17:15759103..20564268 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 |
copy number gain |
not specified [RCV003987215] |
Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2 |
pathogenic |