Single allele |
deletion |
Prader-Willi syndrome [RCV000520873] |
Chr15:23707435..28520316 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000050782] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.637del (p.Arg213fs) |
deletion |
Precocious puberty, central, 2 [RCV000050238] |
Chr15:23566418 [GRCh38] Chr15:23811565 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_005664.4(MKRN3):c.1172dup (p.Tyr391Ter) |
duplication |
Precocious puberty, central, 2 [RCV000050239] |
Chr15:23566953..23566954 [GRCh38] Chr15:23812100..23812101 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_005664.4(MKRN3):c.1095G>T (p.Arg365Ser) |
single nucleotide variant |
Precocious puberty, central, 2 [RCV000050240] |
Chr15:23566877 [GRCh38] Chr15:23812024 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_005664.4(MKRN3):c.482dup (p.Ala162fs) |
duplication |
MKRN3-related condition [RCV003415821]|Precocious puberty, central, 2 [RCV000050241]|not provided [RCV001787846] |
Chr15:23566257..23566258 [GRCh38] Chr15:23811404..23811405 [GRCh37] Chr15:15q11.2 |
pathogenic|uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28785371)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|Global developmental delay [RCV000050782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|See cases [RCV000050782] |
Chr15:23319714..28785371 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000050783] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28314256)x1 |
copy number loss |
See cases [RCV000050850] |
Chr15:23411789..28314256 [GRCh38] Chr15:23656936..28557186 [GRCh37] Chr15:21208377..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 |
copy number gain |
See cases [RCV000050557] |
Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 |
copy number loss |
See cases [RCV000050559] |
Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 |
copy number loss |
See cases [RCV000050742] |
Chr15:23319714..28275167 [GRCh38] Chr15:23300238..28520313 [GRCh37] Chr15:20851679..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 |
copy number loss |
See cases [RCV000050733] |
Chr15:23462305..28275167 [GRCh38] Chr15:23707452..28520313 [GRCh37] Chr15:21258545..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3 |
copy number gain |
See cases [RCV000051112] |
Chr15:23319714..32607357 [GRCh38] Chr15:22698522..32899558 [GRCh37] Chr15:20249886..30686850 [NCBI36] Chr15:15q11.2-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 |
copy number loss |
See cases [RCV000051053] |
Chr15:23319714..28314256 [GRCh38] Chr15:23300238..28557186 [GRCh37] Chr15:20851679..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3 |
copy number gain |
See cases [RCV000051813] |
Chr15:23319714..28681287 [GRCh38] Chr15:23510051..28926433 [GRCh37] Chr15:21061492..26725474 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23320410-28460005)x3 |
copy number gain |
See cases [RCV000051814] |
Chr15:23320410..28460005 [GRCh38] Chr15:23565551..28812483 [GRCh37] Chr15:21116992..26611524 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28446455)x3 |
copy number gain |
See cases [RCV000051816] |
Chr15:23411589..28446455 [GRCh38] Chr15:23656736..28691601 [GRCh37] Chr15:21208177..26365196 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28281294)x3 |
copy number gain |
See cases [RCV000051818] |
Chr15:23411789..28281294 [GRCh38] Chr15:23656936..28526440 [GRCh37] Chr15:21208377..26200035 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1 |
copy number loss |
See cases [RCV000052353] |
Chr15:23319714..30109283 [GRCh38] Chr15:22669052..30401486 [GRCh37] Chr15:20220416..28188778 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x1 |
copy number loss |
See cases [RCV000052355] |
Chr15:23319714..28275308 [GRCh38] Chr15:22698322..28520454 [GRCh37] Chr15:20249686..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 |
copy number loss |
See cases [RCV000052356] |
Chr15:23319714..28446314 [GRCh38] Chr15:22698522..28691460 [GRCh37] Chr15:20249886..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 |
copy number loss |
See cases [RCV000052357] |
Chr15:23319714..28275167 [GRCh38] Chr15:22698522..28520313 [GRCh37] Chr15:20249886..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28197267)x1 |
copy number loss |
See cases [RCV000052358] |
Chr15:23319714..28197267 [GRCh38] Chr15:22779922..28442413 [GRCh37] Chr15:20331286..26116008 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28446314)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|See cases [RCV000052400] |
Chr15:23411789..28446314 [GRCh38] Chr15:23656936..28691460 [GRCh37] Chr15:21208377..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23450287-28446314)x1 |
copy number loss |
See cases [RCV000052402] |
Chr15:23450287..28446314 [GRCh38] Chr15:23695434..28691460 [GRCh37] Chr15:21246527..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28275308)x1 |
copy number loss |
See cases [RCV000052403] |
Chr15:23462105..28275308 [GRCh38] Chr15:23707252..28520454 [GRCh37] Chr15:21258345..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28190742)x1 |
copy number loss |
See cases [RCV000052406] |
Chr15:23462305..28190742 [GRCh38] Chr15:23707452..28435888 [GRCh37] Chr15:21258545..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23494211-28281294)x1 |
copy number loss |
See cases [RCV000052409] |
Chr15:23494211..28281294 [GRCh38] Chr15:23739358..28526440 [GRCh37] Chr15:21290451..26200035 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28269468)x1 |
copy number loss |
See cases [RCV000052410] |
Chr15:23537429..28269468 [GRCh38] Chr15:23782576..28514614 [GRCh37] Chr15:21333669..26188209 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28275167)x1 |
copy number loss |
See cases [RCV000052411] |
Chr15:23537429..28275167 [GRCh38] Chr15:23782576..28520313 [GRCh37] Chr15:21333669..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 |
copy number gain |
See cases [RCV000052339] |
Chr15:20002460..30349193 [GRCh38] Chr15:20207713..30641396 [GRCh37] Chr15:18467727..28428688 [NCBI36] Chr15:15q11.1-13.2 |
pathogenic |
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 |
copy number gain |
See cases [RCV000052340] |
Chr15:20002460..32121422 [GRCh38] Chr15:20207713..32413623 [GRCh37] Chr15:18467727..30200915 [NCBI36] Chr15:15q11.1-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 |
copy number loss |
See cases [RCV000052345] |
Chr15:22030646..28694952 [GRCh38] Chr15:22318597..28940098 [GRCh37] Chr15:19819961..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23337069-28272443)x1 |
copy number loss |
See cases [RCV000052372] |
Chr15:23337069..28272443 [GRCh38] Chr15:23582216..28517589 [GRCh37] Chr15:21133657..26191184 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28197267)x1 |
copy number loss |
See cases [RCV000052374] |
Chr15:23375083..28197267 [GRCh38] Chr15:23620230..28442413 [GRCh37] Chr15:21171671..26116008 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 |
copy number loss |
See cases [RCV000052348] |
Chr15:22144677..30349193 [GRCh38] Chr15:22432628..30641396 [GRCh37] Chr15:19933992..28428688 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28272443)x1 |
copy number loss |
See cases [RCV000052376] |
Chr15:23375083..28272443 [GRCh38] Chr15:23620230..28517589 [GRCh37] Chr15:21171671..26191184 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x3 |
copy number gain |
See cases [RCV000052378] |
Chr15:23398620..28190742 [GRCh38] Chr15:23643767..28435888 [GRCh37] Chr15:21195208..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x1 |
copy number loss |
See cases [RCV000052379] |
Chr15:23398620..28190742 [GRCh38] Chr15:23643767..28435888 [GRCh37] Chr15:21195208..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28446314)x1 |
copy number loss |
See cases [RCV000052380] |
Chr15:23398620..28446314 [GRCh38] Chr15:23643767..28691460 [GRCh37] Chr15:21195208..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28275308)x1 |
copy number loss |
See cases [RCV000052381] |
Chr15:23411589..28275308 [GRCh38] Chr15:23656736..28520454 [GRCh37] Chr15:21208177..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x3 |
copy number gain |
See cases [RCV000052349] |
Chr15:23319714..28190742 [GRCh38] Chr15:22669052..28435888 [GRCh37] Chr15:20220416..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1 |
copy number loss |
See cases [RCV000052350] |
Chr15:23319714..28190742 [GRCh38] Chr15:22669052..28435888 [GRCh37] Chr15:20220416..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 |
copy number gain |
See cases [RCV000052300] |
Chr15:19879749..28918517 [GRCh38] Chr15:20085002..29210720 [GRCh37] Chr15:18345016..26998012 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 |
copy number gain |
See cases [RCV000052301] |
Chr15:19879749..28702163 [GRCh38] Chr15:20085002..28947309 [GRCh37] Chr15:18345016..26746350 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 |
copy number gain |
See cases [RCV000052305] |
Chr15:19879750..27865713 [GRCh38] Chr15:20085003..28178425 [GRCh37] Chr15:18345017..25852020 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 |
copy number gain |
See cases [RCV000052308] |
Chr15:19905469..28163751 [GRCh38] Chr15:20110722..28408897 [GRCh37] Chr15:18370736..26082492 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 |
copy number gain |
See cases [RCV000053207] |
Chr15:20046515..28385894 [GRCh38] Chr15:20251768..28631040 [GRCh37] Chr15:18511782..26304635 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607498)x4 |
copy number gain |
See cases [RCV000053208] |
Chr15:23319714..32607498 [GRCh38] Chr15:22698322..32899699 [GRCh37] Chr15:20249686..30686991 [NCBI36] Chr15:15q11.2-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|See cases [RCV000053210] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698322..28940239 [GRCh37] Chr15:20249686..26739280 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
Renal adysplasia [RCV000053224]|See cases [RCV000053224] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..30653936 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-12(chr15:23319714-27051075)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053226]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053226]|See cases [RCV000053226] |
Chr15:23319714..27051075 [GRCh38] Chr15:22698522..27296222 [GRCh37] Chr15:20249886..24878968 [NCBI36] Chr15:15q11.2-12 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30527306)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|See cases [RCV000053227] |
Chr15:23319714..30527306 [GRCh38] Chr15:22698522..30819509 [GRCh37] Chr15:20249886..28606801 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000053229] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29085896 [GRCh37] Chr15:20249886..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|See cases [RCV000053230] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..30366124 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000053231] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765428..28940239 [GRCh37] Chr15:20316792..26739280 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 |
copy number gain |
See cases [RCV000053232] |
Chr15:23319714..28275167 [GRCh38] Chr15:22765628..28520313 [GRCh37] Chr15:20316992..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 |
copy number gain |
See cases [RCV000053233] |
Chr15:23319714..30073921 [GRCh38] Chr15:22863854..30366124 [GRCh37] Chr15:20415295..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446455)x3 |
copy number gain |
See cases [RCV000053234] |
Chr15:23319714..28446455 [GRCh38] Chr15:23300038..28691601 [GRCh37] Chr15:20851479..26365196 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|See cases [RCV000053235] |
Chr15:23319714..28275308 [GRCh38] Chr15:23300038..28520454 [GRCh37] Chr15:20851479..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1 |
copy number loss |
not provided [RCV002292908] |
Chr15:20739497..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 |
copy number gain |
See cases [RCV000050781] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x3 |
copy number gain |
See cases [RCV000053224] |
Chr15:23319714..30361733 [GRCh38] Chr15:22698522..30653936 [GRCh37] Chr15:20249886..28441228 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 |
copy number gain |
See cases [RCV000053230] |
Chr15:23319714..30073921 [GRCh38] Chr15:22698522..30366124 [GRCh37] Chr15:20249886..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2(chr15:23411789-23579036)x3 |
copy number gain |
See cases [RCV000133771] |
Chr15:23411789..23579036 [GRCh38] Chr15:23656936..23824183 [GRCh37] Chr15:21208377..21375276 [NCBI36] Chr15:15q11.2 |
uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28694922)x1 |
copy number loss |
See cases [RCV000134719] |
Chr15:23462288..28694922 [GRCh38] Chr15:23707435..28940068 [GRCh37] Chr15:21258528..26739109 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23439508-28154050)x1 |
copy number loss |
See cases [RCV000134437] |
Chr15:23439508..28154050 [GRCh38] Chr15:23684655..28399196 [GRCh37] Chr15:21236096..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28275170)x1 |
copy number loss |
See cases [RCV000134053] |
Chr15:23462288..28275170 [GRCh38] Chr15:23707435..28520316 [GRCh37] Chr15:21258528..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28314291)x1 |
copy number loss |
See cases [RCV000134115] |
Chr15:23462288..28314291 [GRCh38] Chr15:23707435..28557186 [GRCh37] Chr15:21258528..26233032 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275170)x3 |
copy number gain |
See cases [RCV000134062] |
Chr15:23319714..28275170 [GRCh38] Chr15:22765637..28520316 [GRCh37] Chr15:20317001..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28347620)x1 |
copy number loss |
See cases [RCV000134074] |
Chr15:23319714..28347620 [GRCh38] Chr15:23353638..28592766 [GRCh37] Chr15:20905079..26266361 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000134082] |
Chr15:22358243..28481444 [GRCh38] Chr15:22652047..28705151 [GRCh37] Chr15:20203411..26524679 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x1 |
copy number loss |
See cases [RCV000135313] |
Chr15:23328044..28154050 [GRCh38] Chr15:22860857..28399196 [GRCh37] Chr15:20412298..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28275170)x1 |
copy number loss |
See cases [RCV000134776] |
Chr15:23410917..28275170 [GRCh38] Chr15:23656064..28520316 [GRCh37] Chr15:21207505..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000134755] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765637..29085888 [GRCh37] Chr15:20317001..26884929 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000134756] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765637..29085888 [GRCh37] Chr15:20317001..26884929 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x4 |
copy number gain |
See cases [RCV000135743] |
Chr15:23319714..30361733 [GRCh38] Chr15:22698522..30653936 [GRCh37] Chr15:20249886..28441228 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000135744] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29085896 [GRCh37] Chr15:20249886..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 |
copy number gain |
See cases [RCV000135745] |
Chr15:23319714..30073921 [GRCh38] Chr15:22698522..30366124 [GRCh37] Chr15:20249886..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 |
copy number loss |
See cases [RCV000135860] |
Chr15:23319714..28314256 [GRCh38] Chr15:22698522..28557186 [GRCh37] Chr15:20249886..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 |
copy number gain |
See cases [RCV000135583] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..28940098 [GRCh37] Chr15:20249886..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x3 |
copy number gain |
See cases [RCV000135505] |
Chr15:23462305..28275167 [GRCh38] Chr15:23707452..28520313 [GRCh37] Chr15:21258545..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 |
copy number gain |
See cases [RCV000135506] |
Chr15:23319714..28275167 [GRCh38] Chr15:23300238..28520313 [GRCh37] Chr15:20851679..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30073876)x4 |
copy number gain |
See cases [RCV000135973] |
Chr15:23319714..30073876 [GRCh38] Chr15:22765637..30366079 [GRCh37] Chr15:20317001..28153371 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 |
copy number loss |
See cases [RCV000135953] |
Chr15:23319714..38089582 [GRCh38] Chr15:22698522..38381783 [GRCh37] Chr15:20249886..36169075 [NCBI36] Chr15:15q11.2-14 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28290061)x1 |
copy number loss |
See cases [RCV000135892] |
Chr15:23462105..28290061 [GRCh38] Chr15:23707252..28535207 [GRCh37] Chr15:21258345..26208802 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28694952)x3 |
copy number gain |
See cases [RCV000137064] |
Chr15:23462305..28694952 [GRCh38] Chr15:23707452..28940098 [GRCh37] Chr15:21258545..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x3 |
copy number gain |
See cases [RCV000137099] |
Chr15:23319714..28314256 [GRCh38] Chr15:22765628..28557186 [GRCh37] Chr15:20316992..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28314256)x1 |
copy number loss |
See cases [RCV000136950] |
Chr15:23462305..28314256 [GRCh38] Chr15:23707452..28557186 [GRCh37] Chr15:21258545..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x4 |
copy number gain |
See cases [RCV000137100] |
Chr15:23319714..28314256 [GRCh38] Chr15:22765628..28559402 [GRCh37] Chr15:20316992..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 |
copy number gain |
See cases [RCV000136964] |
Chr15:20480943..30217181 [GRCh38] Chr15:20686196..30509384 [GRCh37] Chr15:18946210..28296676 [NCBI36] Chr15:15q11.1-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28280314)x1 |
copy number loss |
See cases [RCV000136811] |
Chr15:23319714..28280314 [GRCh38] Chr15:22784523..28525460 [GRCh37] Chr15:20335887..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23454554-28280314)x1 |
copy number loss |
See cases [RCV000136734] |
Chr15:23454554..28280314 [GRCh38] Chr15:23699701..28525460 [GRCh37] Chr15:21250794..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28280314)x3 |
copy number gain |
See cases [RCV000136752] |
Chr15:23411789..28280314 [GRCh38] Chr15:23656936..28525460 [GRCh37] Chr15:21208377..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4 |
copy number gain |
See cases [RCV000137578] |
Chr15:23319714..30361733 [GRCh38] Chr15:22765628..30653936 [GRCh37] Chr15:20316992..28441228 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 |
copy number gain |
See cases [RCV000137630] |
Chr15:23319714..30073921 [GRCh38] Chr15:22765628..30366124 [GRCh37] Chr15:20316992..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x3 |
copy number gain |
See cases [RCV000137393] |
Chr15:23422864..28280314 [GRCh38] Chr15:23668011..28525460 [GRCh37] Chr15:21219452..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x1 |
copy number loss |
See cases [RCV000137394] |
Chr15:23422864..28280314 [GRCh38] Chr15:23668011..28525460 [GRCh37] Chr15:21219452..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 15q11.2-13.1(chr15:23523934-28280314)x1 |
copy number loss |
See cases [RCV000137270] |
Chr15:23523934..28280314 [GRCh38] Chr15:23769081..28525460 [GRCh37] Chr15:21320174..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|likely pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 |
copy number gain |
See cases [RCV000138132] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29006852 [GRCh37] Chr15:20316992..26805893 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000138133] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29006852 [GRCh37] Chr15:20316992..26805893 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 |
copy number gain |
See cases [RCV000137945] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28912057 [GRCh37] Chr15:20316992..26711098 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|likely benign |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28314256)x1 |
copy number loss |
See cases [RCV000137953] |
Chr15:23422864..28314256 [GRCh38] Chr15:23668011..28557186 [GRCh37] Chr15:21219452..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 15q11.2-12(chr15:23319714-25980547)x3 |
copy number gain |
See cases [RCV000137911] |
Chr15:23319714..25980547 [GRCh38] Chr15:23179889..26225694 [GRCh37] Chr15:20731330..23776787 [NCBI36] Chr15:15q11.2-12 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28446301)x1 |
copy number loss |
See cases [RCV000138857] |
Chr15:23462288..28446301 [GRCh38] Chr15:23707435..28691447 [GRCh37] Chr15:21258528..26365042 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 |
copy number gain |
See cases [RCV000138530] |
Chr15:23319714..38545325 [GRCh38] Chr15:22765628..38837526 [GRCh37] Chr15:20316992..36624818 [NCBI36] Chr15:15q11.2-14 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3 |
copy number gain |
See cases [RCV000138622] |
Chr15:23319714..32607357 [GRCh38] Chr15:22765637..32899558 [GRCh37] Chr15:20317001..30686850 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1 |
copy number loss |
See cases [RCV000138308] |
Chr15:23319714..32384654 [GRCh38] Chr15:22765628..32676855 [GRCh37] Chr15:20316992..30464147 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28446301)x1 |
copy number loss |
See cases [RCV000139335] |
Chr15:23410917..28446301 [GRCh38] Chr15:23656064..28691447 [GRCh37] Chr15:21207505..26365042 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3 |
copy number gain |
See cases [RCV000139101] |
Chr15:23319714..31175232 [GRCh38] Chr15:22765637..31467435 [GRCh37] Chr15:20317001..29254727 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446301)x3 |
copy number gain |
See cases [RCV000139162] |
Chr15:23319714..28446301 [GRCh38] Chr15:23300254..28691447 [GRCh37] Chr15:20851695..26365042 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28638603)x4 |
copy number gain |
See cases [RCV000139948] |
Chr15:23328044..28638603 [GRCh38] Chr15:22652060..28883749 [GRCh37] Chr15:20203424..26682790 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28289312)x1 |
copy number loss |
See cases [RCV000139980] |
Chr15:23370621..28289312 [GRCh38] Chr15:23615768..28534458 [GRCh37] Chr15:21167209..26208053 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300209)x1 |
copy number loss |
See cases [RCV000139986] |
Chr15:23375044..28300209 [GRCh38] Chr15:23620191..28545355 [GRCh37] Chr15:21171632..26218950 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000140240] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28940098 [GRCh37] Chr15:20316992..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28578576)x1 |
copy number loss |
See cases [RCV000140454] |
Chr15:23328044..28578576 [GRCh38] Chr15:22770421..28823722 [GRCh37] Chr15:20321785..26622763 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3 |
copy number gain |
See cases [RCV000139610] |
Chr15:23319714..32217731 [GRCh38] Chr15:22765637..32509932 [GRCh37] Chr15:20317001..30297224 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000141251] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28976193 [GRCh37] Chr15:20316992..26775234 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 |
copy number loss |
See cases [RCV000140712] |
Chr15:23319714..28446314 [GRCh38] Chr15:22765628..28691460 [GRCh37] Chr15:20316992..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000140871] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29096442 [GRCh37] Chr15:20316992..26895483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300209)x1 |
copy number loss |
See cases [RCV000140888] |
Chr15:23328044..28300209 [GRCh38] Chr15:23286571..28545355 [GRCh37] Chr15:20838012..26218950 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 |
copy number gain |
See cases [RCV000140619] |
Chr15:21581401..28332641 [GRCh38] Chr15:22304596..28577787 [GRCh37] Chr15:19805960..26251382 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3 |
copy number gain |
See cases [RCV000140622] |
Chr15:23328044..28154050 [GRCh38] Chr15:23569415..28399196 [GRCh37] Chr15:21120856..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 |
copy number gain |
See cases [RCV000140623] |
Chr15:19840581..32621939 [GRCh38] Chr15:20045834..32914140 [GRCh37] Chr15:18305848..30701432 [NCBI36] Chr15:15q11.1-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28414765)x1 |
copy number loss |
See cases [RCV000141946] |
Chr15:23370621..28414765 [GRCh38] Chr15:23615768..28659911 [GRCh37] Chr15:21167209..26333506 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28414892)x1 |
copy number loss |
See cases [RCV000141728] |
Chr15:23370622..28414892 [GRCh38] Chr15:23615769..28660038 [GRCh37] Chr15:21167210..26333633 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1 |
copy number loss |
See cases [RCV000141730] |
Chr15:23328044..28836775 [GRCh38] Chr15:22770421..29081921 [GRCh37] Chr15:20321785..26880962 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)x1 |
copy number loss |
See cases [RCV000142069] |
Chr15:23328044..28315123 [GRCh38] Chr15:22770421..28560269 [GRCh37] Chr15:20321785..26233864 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)x1 |
copy number loss |
See cases [RCV000142233] |
Chr15:23328044..28315951 [GRCh38] Chr15:23290786..28561097 [GRCh37] Chr15:20842227..26234692 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28464569)x1 |
copy number loss |
See cases [RCV000142103] |
Chr15:23328044..28464569 [GRCh38] Chr15:22770421..28709715 [GRCh37] Chr15:20321785..26378746 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28578576)x1 |
copy number loss |
See cases [RCV000142234] |
Chr15:23370621..28578576 [GRCh38] Chr15:23615768..28823722 [GRCh37] Chr15:21167209..26622763 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300358)x1 |
copy number loss |
See cases [RCV000142170] |
Chr15:23375044..28300358 [GRCh38] Chr15:23620191..28545504 [GRCh37] Chr15:21171632..26219099 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300358)x1 |
copy number loss |
See cases [RCV000142132] |
Chr15:23328044..28300358 [GRCh38] Chr15:23286571..28545504 [GRCh37] Chr15:20838012..26219099 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1 |
copy number loss |
See cases [RCV000142046] |
Chr15:23328044..30077815 [GRCh38] Chr15:23276605..30370018 [GRCh37] Chr15:20828046..28157310 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28280314)x3 |
copy number gain |
See cases [RCV000142854] |
Chr15:23398620..28280314 [GRCh38] Chr15:23643767..28525460 [GRCh37] Chr15:21195208..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 |
copy number loss |
See cases [RCV000142766] |
Chr15:23319714..28314256 [GRCh38] Chr15:22765628..28559402 [GRCh37] Chr15:20316992..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000142713] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29085896 [GRCh37] Chr15:20316992..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000142795] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28912057 [GRCh37] Chr15:20316992..26711098 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4 |
copy number gain |
See cases [RCV000142791] |
Chr15:23319714..30527306 [GRCh38] Chr15:22765628..30819509 [GRCh37] Chr15:20316992..28606801 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30094350)x4 |
copy number gain |
See cases [RCV000143379] |
Chr15:23328044..30094350 [GRCh38] Chr15:22770421..30386553 [GRCh37] Chr15:20321785..28173845 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28389912)x1 |
copy number loss |
See cases [RCV000143443] |
Chr15:23370622..28389912 [GRCh38] Chr15:23615769..28635058 [GRCh37] Chr15:21167210..26308653 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28446314)x1 |
copy number loss |
See cases [RCV000143183] |
Chr15:23422864..28446314 [GRCh38] Chr15:23668011..28691460 [GRCh37] Chr15:21219452..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28460005)x1 |
copy number loss |
See cases [RCV000143185] |
Chr15:23422864..28460005 [GRCh38] Chr15:23668011..28801348 [GRCh37] Chr15:21219452..26600389 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28683584)x4 |
copy number gain |
See cases [RCV000143291] |
Chr15:23328044..28683584 [GRCh38] Chr15:22770421..28928730 [GRCh37] Chr15:20321785..26727771 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1 |
copy number loss |
See cases [RCV000143226] |
Chr15:23328044..30023809 [GRCh38] Chr15:22770422..30316012 [GRCh37] Chr15:20321786..28103304 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000148084] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29085896 [GRCh37] Chr15:20249886..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28294829)x1 |
copy number loss |
See cases [RCV000143702] |
Chr15:23328044..28294829 [GRCh38] Chr15:22770421..28539975 [GRCh37] Chr15:20321785..26213570 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28300209)x1 |
copy number loss |
See cases [RCV000143744] |
Chr15:23370622..28300209 [GRCh38] Chr15:23615769..28545355 [GRCh37] Chr15:21167210..26218950 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 |
copy number gain |
See cases [RCV000148060] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000148061] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 |
copy number gain |
See cases [RCV000148062] |
Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23444168-28277347)x3 |
copy number gain |
See cases [RCV000143666] |
Chr15:23444168..28277347 [GRCh38] Chr15:23689315..28522493 [GRCh37] Chr15:21240408..26196088 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 |
copy number loss |
See cases [RCV000148063] |
Chr15:23462305..28275167 [GRCh38] Chr15:23707452..28520313 [GRCh37] Chr15:21258545..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3 |
copy number gain |
See cases [RCV000143653] |
Chr15:23328044..32151843 [GRCh38] Chr15:23282829..32444044 [GRCh37] Chr15:20834270..30231336 [NCBI36] Chr15:15q11.2-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28713633)x3 |
copy number gain |
See cases [RCV000143479] |
Chr15:23328044..28713633 [GRCh38] Chr15:22770421..28958779 [GRCh37] Chr15:20321785..26757820 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28478308)x1 |
copy number loss |
See cases [RCV000143483] |
Chr15:23328044..28478308 [GRCh38] Chr15:22770421..28723454 [GRCh37] Chr15:20321785..26378746 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 |
copy number loss |
See cases [RCV000148195] |
Chr15:23319714..28275167 [GRCh38] Chr15:23300238..28520313 [GRCh37] Chr15:20851679..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 |
copy number loss |
See cases [RCV000148164] |
Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 |
copy number loss |
See cases [RCV000148194] |
Chr15:23319714..28446314 [GRCh38] Chr15:22698522..28691460 [GRCh37] Chr15:20249886..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NC_000015.9:g.(?_23730704)_(28530182_?)del |
deletion |
Angelman syndrome [RCV000191153] |
Chr15:23730704..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3 |
copy number gain |
See cases [RCV000240207] |
Chr15:20848460..27662530 [GRCh37] Chr15:15q11.2-12 |
pathogenic |
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4 |
copy number gain |
See cases [RCV000240220] |
Chr15:20190548..32917857 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
NM_005664.4(MKRN3):c.326G>A (p.Cys109Tyr) |
single nucleotide variant |
Precocious puberty, central, 2 [RCV000766215] |
Chr15:23566108 [GRCh38] Chr15:23811255 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
Single allele |
duplication |
Autism spectrum disorder [RCV000225455] |
Chr15:20044342..28924405 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
Single allele |
duplication |
Autism spectrum disorder [RCV000225599] |
Chr15:23624148..28790734 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
duplication |
Autism spectrum disorder [RCV000225663] |
Chr15:20306549..26208861 [GRCh37] Chr15:15q11.1-12 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3 |
copy number gain |
See cases [RCV000239962] |
Chr15:20733395..28406709 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x3 |
copy number gain |
See cases [RCV000511328] |
Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406709)x1 |
copy number loss |
See cases [RCV000240259] |
Chr15:22815306..28406709 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4 |
copy number gain |
See cases [RCV000240538] |
Chr15:20190548..32386089 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406709)x1 |
copy number loss |
See cases [RCV000240502] |
Chr15:22698522..28406709 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.694_695del (p.Arg232fs) |
microsatellite |
not provided [RCV000627467] |
Chr15:23566473..23566474 [GRCh38] Chr15:23811620..23811621 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28644578)x3 |
copy number gain |
See cases [RCV000449082] |
Chr15:22770421..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x3 |
copy number gain |
See cases [RCV000449451] |
Chr15:22770421..29062203 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545355)x1 |
copy number loss |
See cases [RCV000449342] |
Chr15:23620191..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28823722)x1 |
copy number loss |
See cases [RCV000449387] |
Chr15:23615768..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4 |
copy number gain |
See cases [RCV000454142] |
Chr15:20071673..30737344 [GRCh37] Chr15:15q11.1-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28357230)x1 |
copy number loss |
See cases [RCV000449305] |
Chr15:23620191..28357230 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x1 |
copy number loss |
See cases [RCV000449486] |
Chr15:22770421..28527747 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23300138-29338429)x3 |
copy number gain |
See cases [RCV000449160] |
Chr15:23300138..29338429 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28928730)x1 |
copy number loss |
See cases [RCV000446327] |
Chr15:22770421..28928730 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x3 |
copy number gain |
See cases [RCV000447681] |
Chr15:22770421..28527747 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28823722)x1 |
copy number loss |
See cases [RCV000447304] |
Chr15:23290862..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545355)x1 |
copy number loss |
See cases [RCV000447305] |
Chr15:22770421..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28561097)x3 |
copy number gain |
See cases [RCV000446375] |
Chr15:23290862..28561097 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28958779)x4 |
copy number gain |
See cases [RCV000447111] |
Chr15:22770421..28958779 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2(chr15:23633652-24093847)x3 |
copy number gain |
See cases [RCV000446198] |
Chr15:23633652..24093847 [GRCh37] Chr15:15q11.2 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28545355)x1 |
copy number loss |
See cases [RCV000446271] |
Chr15:23615768..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28545355)x1 |
copy number loss |
See cases [RCV000447349] |
Chr15:23286571..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29021034)x1 |
copy number loss |
See cases [RCV000447354] |
Chr15:22770421..29021034 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1 |
copy number loss |
See cases [RCV000446646] |
Chr15:22770421..28828168 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x4 |
copy number gain |
See cases [RCV000447598] |
Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23487423-28406650)x3 |
copy number gain |
See cases [RCV000446525] |
Chr15:23487423..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x3 |
copy number gain |
See cases [RCV000447049] |
Chr15:23707452..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x3 |
copy number gain |
See cases [RCV000446464] |
Chr15:22770421..28915864 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 |
copy number loss |
See cases [RCV000446703] |
Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650) |
copy number gain |
See cases [RCV000447173] |
Chr15:20190548..28406650 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28704050)x1 |
copy number loss |
See cases [RCV000447451] |
Chr15:22770421..28704050 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28527734)x1 |
copy number loss |
See cases [RCV000446656] |
Chr15:23620191..28527734 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561232)x1 |
copy number loss |
See cases [RCV000447084] |
Chr15:23620191..28561232 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-31760986)x1 |
copy number loss |
See cases [RCV000445857] |
Chr15:22770421..31760986 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_005664.4(MKRN3):c.982C>T (p.Arg328Cys) |
single nucleotide variant |
Precocious puberty, central, 2 [RCV000505267] |
Chr15:23566764 [GRCh38] Chr15:23811911 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_005664.4(MKRN3):c.1046G>T (p.Ser349Ile) |
single nucleotide variant |
not provided [RCV000439509] |
Chr15:23566828 [GRCh38] Chr15:23811975 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x3 |
copy number gain |
See cases [RCV000445780] |
Chr15:22770421..29069001 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:23282829-32446830)x1 |
copy number loss |
See cases [RCV000445807] |
Chr15:23282829..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3 |
copy number gain |
See cases [RCV000445711] |
Chr15:20733395..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073669)x4 |
copy number gain |
See cases [RCV000448114] |
Chr15:22770421..31073669 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 |
copy number gain |
See cases [RCV000447765] |
Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534458)x1 |
copy number loss |
See cases [RCV000448156] |
Chr15:22770421..28534458 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406650)x1 |
copy number loss |
See cases [RCV000448168] |
Chr15:22815306..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x3 |
copy number gain |
See cases [RCV000448177] |
Chr15:23288374..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-14(chr15:22770421-33707835)x3 |
copy number gain |
See cases [RCV000447775] |
Chr15:22770421..33707835 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28709715)x1 |
copy number loss |
See cases [RCV000448196] |
Chr15:22770421..28709715 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x1 |
copy number loss |
See cases [RCV000447934] |
Chr15:22770421..28915864 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x4 |
copy number gain |
See cases [RCV000448060] |
Chr15:22770421..28660038 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28534245)x3 |
copy number gain |
See cases [RCV000448566] |
Chr15:23290862..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)x1 |
copy number loss |
See cases [RCV000448654] |
Chr15:23620191..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 |
copy number gain |
See cases [RCV000448210] |
Chr15:20190548..32917801 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545459)x1 |
copy number loss |
See cases [RCV000448755] |
Chr15:23290786..28545459 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1 |
copy number loss |
See cases [RCV000448076] |
Chr15:22698522..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28419123)x1 |
copy number loss |
See cases [RCV000448602] |
Chr15:22770421..28419123 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28437018)x1 |
copy number loss |
See cases [RCV000448456] |
Chr15:23620191..28437018 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x1 |
copy number loss |
See cases [RCV000448093] |
Chr15:23707452..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 |
copy number gain |
See cases [RCV000448096] |
Chr15:22770421..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 |
copy number gain |
See cases [RCV000448389] |
Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28540415)x1 |
copy number loss |
See cases [RCV000510622] |
Chr15:23615768..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28526410)x3 |
copy number gain |
See cases [RCV000510367] |
Chr15:22770421..28526410 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4 |
copy number gain |
See cases [RCV000510386] |
Chr15:22770421..31122895 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 |
copy number gain |
See cases [RCV000510251] |
Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28415107)x1 |
copy number loss |
See cases [RCV000510397] |
Chr15:22770421..28415107 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23625784-28540345)x1 |
copy number loss |
See cases [RCV000510211] |
Chr15:23625784..28540345 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3 |
copy number gain |
See cases [RCV000510224] |
Chr15:22770421..29214721 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561671)x1 |
copy number loss |
See cases [RCV000510689] |
Chr15:23615769..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561097)x3 |
copy number gain |
See cases [RCV000510296] |
Chr15:23615769..28561097 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 |
copy number loss |
See cases [RCV000510693] |
Chr15:22770421..29062203 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) |
copy number gain |
See cases [RCV000512019] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x1 |
copy number loss |
See cases [RCV000511670] |
Chr15:22770421..28660038 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545601)x1 |
copy number loss |
See cases [RCV000511767] |
Chr15:23290786..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic|uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28534245)x3 |
copy number gain |
See cases [RCV000511592] |
Chr15:23615768..28534245 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534359)x1 |
copy number loss |
See cases [RCV000511600] |
Chr15:23620191..28534359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28953483)x3 |
copy number gain |
See cases [RCV000511850] |
Chr15:23615769..28953483 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28539975)x1 |
copy number loss |
See cases [RCV000510883] |
Chr15:23620191..28539975 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x1 |
copy number loss |
See cases [RCV000511196] |
Chr15:23620191..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561671)x1 |
copy number loss |
See cases [RCV000510894] |
Chr15:23620191..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28958779)x3 |
copy number gain |
See cases [RCV000510929] |
Chr15:23620191..28958779 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30369944)x4 |
copy number gain |
See cases [RCV000510901] |
Chr15:22770421..30369944 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534245)x3 |
copy number gain |
See cases [RCV000510737] |
Chr15:23620191..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561671)x1 |
copy number loss |
See cases [RCV000511178] |
Chr15:22770421..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28958779)x3 |
copy number gain |
See cases [RCV000511275] |
Chr15:23290862..28958779 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) |
copy number gain |
Autism [RCV000626505] |
Chr15:23810397..29213787 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.1487A>G (p.His496Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003239349] |
Chr15:23567269 [GRCh38] Chr15:23812416 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.170C>T (p.Pro57Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003281105] |
Chr15:23565952 [GRCh38] Chr15:23811099 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28163991)x1 |
copy number loss |
See cases [RCV000512394] |
Chr15:23615769..28163991 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561670)x4 |
copy number gain |
See cases [RCV000512182] |
Chr15:22770421..28561670 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28709715)x1 |
copy number loss |
See cases [RCV000512355] |
Chr15:23620191..28709715 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28540415)x1 |
copy number loss |
See cases [RCV000512547] |
Chr15:23286571..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29009042)x3 |
copy number gain |
See cases [RCV000512432] |
Chr15:22770421..29009042 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4 |
copy number gain |
not provided [RCV000683630] |
Chr15:22770421..28376934 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4 |
copy number gain |
not provided [RCV000683632] |
Chr15:22770421..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 |
copy number loss |
not provided [RCV000683633] |
Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 |
copy number gain |
not provided [RCV000683631] |
Chr15:22770421..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1 |
copy number loss |
not provided [RCV000683635] |
Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4 |
copy number gain |
not provided [RCV000683636] |
Chr15:22770421..31073668 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28560269)x1 |
copy number loss |
not provided [RCV000683644] |
Chr15:23290786..28560269 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3 |
copy number gain |
not provided [RCV000683645] |
Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3 |
copy number gain |
not provided [RCV000683637] |
Chr15:22770421..32421780 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28534458)x3 |
copy number gain |
not provided [RCV000683648] |
Chr15:23632677..28534458 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4 |
copy number gain |
not provided [RCV000683638] |
Chr15:22770421..32439524 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28705281)x1 |
copy number loss |
not provided [RCV000683642] |
Chr15:23288374..28705281 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28823722)x1 |
copy number loss |
not provided [RCV000683641] |
Chr15:23286571..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1 |
copy number loss |
not provided [RCV000683643] |
Chr15:23288374..29062203 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x1 |
copy number loss |
not provided [RCV000683646] |
Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3 |
copy number gain |
not provided [RCV000683647] |
Chr15:23620191..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4 |
copy number gain |
not provided [RCV000683639] |
Chr15:22770421..33098520 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1 |
copy number loss |
not provided [RCV000683640] |
Chr15:22876919..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3 |
copy number gain |
not provided [RCV000683649] |
Chr15:23632677..28723454 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1 |
copy number loss |
not provided [RCV000683650] |
Chr15:23637603..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1 |
copy number loss |
not provided [RCV000683634] |
Chr15:22770421..29069001 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-12(chr15:23662481-25991024)x1 |
copy number loss |
not provided [RCV000683651] |
Chr15:23662481..25991024 [GRCh37] Chr15:15q11.2-12 |
pathogenic |
Single allele |
duplication |
Schizophrenia [RCV000754156] |
Chr15:23319712..28684313 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1 |
copy number loss |
not provided [RCV000738652] |
Chr15:22652330..29050198 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28532120)x1 |
copy number loss |
not provided [RCV000738660] |
Chr15:23672782..28532120 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28544359)x1 |
copy number loss |
not provided [RCV000738661] |
Chr15:23672782..28544359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23693406-29085893)x3 |
copy number gain |
not provided [RCV000738662] |
Chr15:23693406..29085893 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754147] |
Chr15:22420897..32130343 [GRCh38] Chr15:15q11.2-13.3 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754157] |
Chr15:23319712..28800324 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 |
copy number gain |
not provided [RCV000754760] |
Chr15:20102541..28535051 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
Single allele |
duplication |
Schizophrenia [RCV000754155] |
Chr15:23157975..28774125 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22750305-28535266)x1 |
copy number loss |
not provided [RCV000751176] |
Chr15:22750305..28535266 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22835967-30371774)x4 |
copy number gain |
not provided [RCV000751178] |
Chr15:22835967..30371774 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23109890-29085893)x3 |
copy number gain |
not provided [RCV000751181] |
Chr15:23109890..29085893 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28506450)x3 |
copy number gain |
not provided [RCV000751185] |
Chr15:23656946..28506450 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28535266)x3 |
copy number gain |
not provided [RCV000751186] |
Chr15:23656946..28535266 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x3 |
copy number gain |
not provided [RCV000751187] |
Chr15:23656946..28544359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x1 |
copy number loss |
not provided [RCV000751188] |
Chr15:23656946..28544359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 |
copy number gain |
not provided [RCV000751155] |
Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 |
copy number gain |
not provided [RCV000751156] |
Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
NM_005664.4(MKRN3):c.402G>A (p.Pro134=) |
single nucleotide variant |
not provided [RCV000897087] |
Chr15:23566184 [GRCh38] Chr15:23811331 [GRCh37] Chr15:15q11.2 |
benign |
NM_005664.4(MKRN3):c.425G>C (p.Gly142Ala) |
single nucleotide variant |
not provided [RCV000917622] |
Chr15:23566207 [GRCh38] Chr15:23811354 [GRCh37] Chr15:15q11.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_005664.4(MKRN3):c.1317C>T (p.Ser439=) |
single nucleotide variant |
not provided [RCV000929190] |
Chr15:23567099 [GRCh38] Chr15:23812246 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_005664.4(MKRN3):c.566G>A (p.Arg189His) |
single nucleotide variant |
Inborn genetic diseases [RCV002537558]|not provided [RCV000902373] |
Chr15:23566348 [GRCh38] Chr15:23811495 [GRCh37] Chr15:15q11.2 |
benign|uncertain significance |
NM_005664.4(MKRN3):c.480C>G (p.Pro160=) |
single nucleotide variant |
not provided [RCV000925155] |
Chr15:23566262 [GRCh38] Chr15:23811409 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_005664.4(MKRN3):c.477C>A (p.Ala159=) |
single nucleotide variant |
not provided [RCV000914768] |
Chr15:23566259 [GRCh38] Chr15:23811406 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_005664.4(MKRN3):c.1457C>G (p.Pro486Arg) |
single nucleotide variant |
not provided [RCV000898904] |
Chr15:23567239 [GRCh38] Chr15:23812386 [GRCh37] Chr15:15q11.2 |
benign |
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) |
copy number loss |
Angelman syndrome [RCV000767840] |
Chr15:22816713..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4 |
copy number gain |
not provided [RCV001006663] |
Chr15:22770421..32915089 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 |
copy number loss |
not provided [RCV001006664] |
Chr15:22770421..36861479 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767717] |
Chr15:20190548..30300265 [GRCh37] Chr15:15q11.1-13.2 |
pathogenic |
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767718] |
Chr15:20191652..28525310 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767723] |
Chr15:22770994..28517432 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) |
copy number loss |
Angelman syndrome [RCV000767724] |
Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) |
copy number loss |
Angelman syndrome [RCV000767725] |
Chr15:23683783..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767753] |
Chr15:23810184..29213896 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1 |
copy number loss |
not provided [RCV001006665] |
Chr15:23213406..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
Single allele |
duplication |
15q11q13 microduplication syndrome [RCV000825026] |
Chr15:23810928..28544664 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767754] |
Chr15:23810397..28525505 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767720] |
Chr15:22382860..32396457 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767722] |
Chr15:22383299..32917689 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) |
copy number loss |
Prader-Willi syndrome [RCV000767726] |
Chr15:23810184..28525505 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767841] |
Chr15:22816713..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.102C>A (p.Val34=) |
single nucleotide variant |
not provided [RCV000981507] |
Chr15:23565884 [GRCh38] Chr15:23811031 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_005664.4(MKRN3):c.357C>T (p.His119=) |
single nucleotide variant |
not provided [RCV000906921] |
Chr15:23566139 [GRCh38] Chr15:23811286 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_005664.4(MKRN3):c.153G>A (p.Ala51=) |
single nucleotide variant |
not provided [RCV000920710] |
Chr15:23565935 [GRCh38] Chr15:23811082 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_005664.4(MKRN3):c.225C>T (p.Ala75=) |
single nucleotide variant |
not provided [RCV000907457] |
Chr15:23566007 [GRCh38] Chr15:23811154 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_005664.4(MKRN3):c.1311A>G (p.Ser437=) |
single nucleotide variant |
not provided [RCV000924639] |
Chr15:23567093 [GRCh38] Chr15:23812240 [GRCh37] Chr15:15q11.2 |
likely benign |
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) |
copy number loss |
Angelman syndrome [RCV000767719] |
Chr15:20848750..32925141 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) |
copy number loss |
Angelman syndrome [RCV000767721] |
Chr15:22770994..29050198 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.1491T>C (p.Tyr497=) |
single nucleotide variant |
not provided [RCV000914030] |
Chr15:23567273 [GRCh38] Chr15:23812420 [GRCh37] Chr15:15q11.2 |
likely benign |
GRCh37/hg19 15q11.2(chr15:23620191-23929571)x3 |
copy number gain |
not provided [RCV000849544] |
Chr15:23620191..23929571 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4 |
copy number gain |
not provided [RCV001006662] |
Chr15:22770421..30386553 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-12(chr15:23288374-27706996)x1 |
copy number loss |
not provided [RCV001006666] |
Chr15:23288374..27706996 [GRCh37] Chr15:15q11.2-12 |
pathogenic |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787376] |
Chr15:23699983..28436313 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3 |
copy number gain |
not provided [RCV000846014] |
Chr15:20179527..32998070 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
Single allele |
deletion |
Angelman syndrome [RCV001250751] |
Chr15:23579300..28447626 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
complex |
Esophageal atresia [RCV000986105] |
Chr15:22676913..30137106 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
deletion |
Angelman syndrome [RCV001250750] |
Chr15:22833416..28566671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.802_803del (p.Met268fs) |
deletion |
not provided [RCV001550386] |
Chr15:23566584..23566585 [GRCh38] Chr15:23811731..23811732 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_005664.4(MKRN3):c.399G>A (p.Ser133=) |
single nucleotide variant |
not provided [RCV000922300] |
Chr15:23566181 [GRCh38] Chr15:23811328 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_005664.4(MKRN3):c.1452G>A (p.Glu484=) |
single nucleotide variant |
not provided [RCV000975276] |
Chr15:23567234 [GRCh38] Chr15:23812381 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_005664.4(MKRN3):c.276C>T (p.Ser92=) |
single nucleotide variant |
not provided [RCV000914653] |
Chr15:23566058 [GRCh38] Chr15:23811205 [GRCh37] Chr15:15q11.2 |
benign |
NM_005664.4(MKRN3):c.393C>T (p.Gly131=) |
single nucleotide variant |
not provided [RCV000901077] |
Chr15:23566175 [GRCh38] Chr15:23811322 [GRCh37] Chr15:15q11.2 |
benign |
NM_005664.4(MKRN3):c.1318G>A (p.Ala440Thr) |
single nucleotide variant |
not provided [RCV000908661] |
Chr15:23567100 [GRCh38] Chr15:23812247 [GRCh37] Chr15:15q11.2 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1 |
copy number loss |
not provided [RCV002472551] |
Chr15:23670891..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.208_214dup (p.Leu72fs) |
duplication |
not provided [RCV001008571] |
Chr15:23565989..23565990 [GRCh38] Chr15:23811136..23811137 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_005664.4(MKRN3):c.663C>T (p.Pro221=) |
single nucleotide variant |
not provided [RCV001695491] |
Chr15:23566445 [GRCh38] Chr15:23811592 [GRCh37] Chr15:15q11.2 |
benign |
Single allele |
deletion |
Angelman syndrome [RCV001250749] |
Chr15:22646692..28964445 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-12(chr15:22833525-27193380)x4 |
copy number gain |
not provided [RCV001310299] |
Chr15:22833525..27193380 [GRCh37] Chr15:15q11.2-12 |
pathogenic |
GRCh37/hg19 15q11.2(chr15:22770421-25648680)x1 |
copy number loss |
Hypotonia [RCV002284313] |
Chr15:22770421..25648680 [GRCh37] Chr15:15q11.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23208842-28525460) |
copy number gain |
Epileptic encephalopathy [RCV001291989] |
Chr15:23208842..28525460 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1 |
copy number loss |
not provided [RCV001281355] |
Chr15:23707435..28726651 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1 |
copy number loss |
not provided [RCV001537909] |
Chr15:23616095..28538904 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.103T>G (p.Cys35Gly) |
single nucleotide variant |
Precocious puberty, central, 2 [RCV001331452] |
Chr15:23565885 [GRCh38] Chr15:23811032 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NC_000015.10:g.22804175_30375696dup |
duplication |
15q11q13 microduplication syndrome [RCV001420629] |
Chr15:22804175..30375696 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
NM_005664.4(MKRN3):c.515G>A (p.Gly172Asp) |
single nucleotide variant |
not provided [RCV001755188] |
Chr15:23566297 [GRCh38] Chr15:23811444 [GRCh37] Chr15:15q11.2 |
uncertain significance |
Single allele |
duplication |
15q11q13 microduplication syndrome [RCV002280354] |
Chr15:22810652..29822566 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-12(chr15:22722801-26749200) |
copy number gain |
Cerebral palsy [RCV001796580] |
Chr15:22722801..26749200 [GRCh37] Chr15:15q11.2-12 |
risk factor |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) |
copy number loss |
Prader-Willi syndrome [RCV002280643] |
Chr15:22770421..28635058 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NC_000015.9:g.(?_23006221)_(23932364_?)dup |
duplication |
not provided [RCV001988148] |
Chr15:23006221..23932364 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh37/hg19 15q11.2(chr15:22770422-24058623)x3 |
copy number gain |
not provided [RCV001832958] |
Chr15:22770422..24058623 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NC_000015.10:g.23370759_30529376del |
deletion |
Angelman syndrome [RCV001839262] |
Chr15:23370759..30529376 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
NM_005664.4(MKRN3):c.1034G>A (p.Arg345His) |
single nucleotide variant |
not specified [RCV002223076] |
Chr15:23566816 [GRCh38] Chr15:23811963 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NC_000015.9:g.(?_23006221)_(23932364_?)del |
deletion |
not provided [RCV003119950] |
Chr15:23006221..23932364 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.-81C>T |
single nucleotide variant |
Precocious puberty, central, 2 [RCV003131592] |
Chr15:23565702 [GRCh38] Chr15:23810849 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579) |
copy number gain |
15q11q13 microduplication syndrome [RCV003236743] |
Chr15:23684691..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601) |
copy number gain |
15q11q13 microduplication syndrome [RCV002280725] |
Chr15:23620191..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838) |
copy number loss |
Angelman syndrome [RCV002280757] |
Chr15:23615768..28522838 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838) |
copy number loss |
Angelman syndrome [RCV002280758] |
Chr15:23290862..28522838 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014) |
copy number loss |
Angelman syndrome [RCV002280760] |
Chr15:22770421..29855014 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
complex |
Distal tetrasomy 15q [RCV002280777] |
Chr15:22770421..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578) |
copy number loss |
Angelman syndrome [RCV002280761] |
Chr15:23689315..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29057676)x3 |
copy number gain |
FETAL DEMISE [RCV002282734] |
Chr15:22770421..29057676 [GRCh37] Chr15:15q11.2-13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368) |
copy number gain |
See cases [RCV002286340] |
Chr15:30370019..30374368 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x1 |
copy number loss |
See cases [RCV002286346] |
Chr15:23288374..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399) |
copy number loss |
Angelman syndrome [RCV002280759] |
Chr15:23285775..30386399 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4 |
copy number gain |
not provided [RCV002473936] |
Chr15:22770422..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3 |
copy number gain |
not provided [RCV002474488] |
Chr15:23615769..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1 |
copy number loss |
not provided [RCV002474513] |
Chr15:23615769..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1 |
copy number loss |
not provided [RCV002474564] |
Chr15:23290787..28560269 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 |
copy number gain |
not provided [RCV002474562] |
Chr15:22770422..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4 |
copy number gain |
not provided [RCV002473944] |
Chr15:22770422..30386553 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
NM_005664.4(MKRN3):c.1007A>G (p.Asn336Ser) |
single nucleotide variant |
not provided [RCV002474210] |
Chr15:23566789 [GRCh38] Chr15:23811936 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1 |
copy number loss |
not provided [RCV002511814] |
Chr15:23684645..28566612 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.455C>T (p.Pro152Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002991271] |
Chr15:23566237 [GRCh38] Chr15:23811384 [GRCh37] Chr15:15q11.2 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3 |
copy number gain |
not provided [RCV002475662] |
Chr15:23632678..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1 |
copy number loss |
not provided [RCV002511813] |
Chr15:22833525..28544662 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3 |
copy number gain |
not provided [RCV002475533] |
Chr15:23620192..28545459 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.1082G>T (p.Cys361Phe) |
single nucleotide variant |
not provided [RCV003152147] |
Chr15:23566864 [GRCh38] Chr15:23812011 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.76G>T (p.Gly26Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002754661] |
Chr15:23565858 [GRCh38] Chr15:23811005 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.122C>G (p.Ser41Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002951992] |
Chr15:23565904 [GRCh38] Chr15:23811051 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.1383T>G (p.Ile461Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002758327] |
Chr15:23567165 [GRCh38] Chr15:23812312 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.638G>A (p.Arg213Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002738746] |
Chr15:23566420 [GRCh38] Chr15:23811567 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.434C>T (p.Thr145Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003006636] |
Chr15:23566216 [GRCh38] Chr15:23811363 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.257C>T (p.Pro86Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002936406] |
Chr15:23566039 [GRCh38] Chr15:23811186 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.461A>G (p.Gln154Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002855759] |
Chr15:23566243 [GRCh38] Chr15:23811390 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.152C>T (p.Ala51Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002988249] |
Chr15:23565934 [GRCh38] Chr15:23811081 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.637C>T (p.Arg213Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002960841] |
Chr15:23566419 [GRCh38] Chr15:23811566 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.370C>T (p.Arg124Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002963888] |
Chr15:23566152 [GRCh38] Chr15:23811299 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.1511A>G (p.Asn504Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002677235] |
Chr15:23567293 [GRCh38] Chr15:23812440 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.974A>G (p.Asn325Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002722688] |
Chr15:23566756 [GRCh38] Chr15:23811903 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_005664.4(MKRN3):c.109C>T (p.Pro37Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002724120] |
Chr15:23565891 [GRCh38] Chr15:23811038 [GRCh37] Chr15:15q11.2 |
uncertain significance |
Single allele |
duplication |
See cases [RCV003154623] |
Chr15:22833523..25223593 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1 |
copy number loss |
not provided [RCV003222838] |
Chr15:23406271..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.131C>T (p.Pro44Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003173545] |
Chr15:23565913 [GRCh38] Chr15:23811060 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.482del (p.Pro161fs) |
deletion |
Precocious puberty, central, 2 [RCV003142246] |
Chr15:23566258 [GRCh38] Chr15:23811405 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_005664.4(MKRN3):c.148C>T (p.His50Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003220942] |
Chr15:23565930 [GRCh38] Chr15:23811077 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.4(MKRN3):c.-87C>T |
single nucleotide variant |
not provided [RCV003219002] |
Chr15:23565696 [GRCh38] Chr15:23810843 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398) |
copy number gain |
15q11q13 microduplication syndrome [RCV003319585] |
Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
NM_005664.4(MKRN3):c.795A>G (p.Ile265Met) |
single nucleotide variant |
not provided [RCV003318922] |
Chr15:23566577 [GRCh38] Chr15:23811724 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1 |
copy number loss |
not provided [RCV003326926] |
Chr15:23605427..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1 |
copy number loss |
Angelman syndrome [RCV003327724] |
Chr15:20966971..25963714 [GRCh38] Chr15:15q11.2-12 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4 |
copy number gain |
not provided [RCV003326925] |
Chr15:22742396..28567325 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_005664.4(MKRN3):c.410C>T (p.Ala137Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003379070] |
Chr15:23566192 [GRCh38] Chr15:23811339 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_005664.3(MKRN3):c.-265G>A |
single nucleotide variant |
not provided [RCV003426481] |
Chr15:23565518 [GRCh38] Chr15:23810665 [GRCh37] Chr15:15q11.2 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1 |
copy number loss |
not provided [RCV003483220] |
Chr15:23615769..28915864 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3 |
copy number gain |
not provided [RCV003485056] |
Chr15:22770422..36556562 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3 |
copy number gain |
not provided [RCV003485057] |
Chr15:22770422..32915593 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3 |
copy number gain |
not provided [RCV003485058] |
Chr15:22770422..29013164 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NC_000015.10:g.23564819G>A |
single nucleotide variant |
not provided [RCV003426480] |
Chr15:23564819 [GRCh38] Chr15:23809966 [GRCh37] Chr15:15q11.2 |
benign |
NM_005664.4(MKRN3):c.900G>A (p.Ser300=) |
single nucleotide variant |
not provided [RCV003426482] |
Chr15:23566682 [GRCh38] Chr15:23811829 [GRCh37] Chr15:15q11.2 |
likely benign |
Single allele |
duplication |
not provided [RCV003448679] |
Chr15:22750407..32516333 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |