Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Prader-Willi syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Prader-Willi syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:17337158 | PMID:19471314 | PMID:20301505 | PMID:32447825 | PMID:32870579 | PMID:37291246 | PMID:38218456 |
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Variants in PWRN1
1 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NR_026646.1(PWRN1):n.721-1689A>T | single nucleotide variant | Lung cancer [RCV000099330] | Chr15:24572821 [GRCh38] Chr15:24817968 [GRCh37] Chr15:15q11.2 |
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(chr15:24341879-24670107)x3 | copy number gain | See cases [RCV000051152] | Chr15:24341879..24670107 [GRCh38] Chr15:24587026..24915254 [GRCh37] Chr15:22138119..22466347 [NCBI36] Chr15:15q11.2 |
benign |
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 15q11.2(chr15:24186506-24863718)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051950]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051950]|See cases [RCV000051950] | Chr15:24186506..24863718 [GRCh38] Chr15:24431653..25108865 [GRCh37] Chr15:21982746..22659958 [NCBI36] Chr15:15q11.2 |
uncertain significance |
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 |
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 |
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 15q11.2-13.1(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(chr15:24096937-24873170)x3 | copy number gain | See cases [RCV000135319] | Chr15:24096937..24873170 [GRCh38] Chr15:24342084..25118317 [GRCh37] Chr15:21893177..22669410 [NCBI36] Chr15:15q11.2 |
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(chr15:24341879-24958682)x3 | copy number gain | See cases [RCV000137324] | Chr15:24341879..24958682 [GRCh38] Chr15:24587026..25203829 [GRCh37] Chr15:22138119..22754922 [NCBI36] Chr15:15q11.2 |
uncertain significance |
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(chr15:23422864-28314256)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 15q11.2-13.1(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 15q11.2-12(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(chr15:24288070-24786776)x4 | copy number gain | See cases [RCV000137912] | Chr15:24288070..24786776 [GRCh38] Chr15:24533217..25031923 [GRCh37] Chr15:22084310..22583016 [NCBI36] Chr15:15q11.2 |
pathogenic|uncertain significance |
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(chr15:23999707-28314256)x1 | copy number loss | See cases [RCV000139647] | Chr15:23999707..28314256 [GRCh38] Chr15:24244854..28557186 [GRCh37] Chr15:21795947..26232997 [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 15q11.1-13.3(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(chr15:23319714-28446314)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(chr15:24116502-24873170)x1 | copy number loss | See cases [RCV000140613] | Chr15:24116502..24873170 [GRCh38] Chr15:24361649..25118317 [GRCh37] Chr15:21912742..22669410 [NCBI36] Chr15:15q11.2 |
uncertain significance |
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 15q11.2-13.1(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(chr15:24233258-24955243)x3 | copy number gain | See cases [RCV000141645] | Chr15:24233258..24955243 [GRCh38] Chr15:24478405..25200390 [GRCh37] Chr15:22029498..22751483 [NCBI36] Chr15:15q11.2 |
uncertain significance |
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 15q11.2-13.2(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 15q11.2-13.1(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)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 15q11.2-13.1(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 15q11.2-13.2(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 15q11.2-12(chr15:24051424-27222420)x1 | copy number loss | See cases [RCV000143716] | Chr15:24051424..27222420 [GRCh38] Chr15:24296571..27467567 [GRCh37] Chr15:21847664..25050313 [NCBI36] Chr15:15q11.2-12 |
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(chr15:23319714-28446314)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 |
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 |
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 |
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 |
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(chr15:23689315-28644578) | copy number loss | Angelman syndrome [RCV002280761] | Chr15:23689315..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
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 |
Single allele | deletion | Prader-Willi syndrome [RCV000520873] | Chr15:23707435..28520316 [GRCh37] Chr15:15q11.2-13.1 |
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 15q11.2-14(chr15:24179003-37238599)x1 | copy number loss | See cases [RCV000449139] | Chr15:24179003..37238599 [GRCh37] Chr15:15q11.2-14 |
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 15q11.2-13.1(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 |
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 15q11.2-13.2(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(chr15:24339753-25107703)x3 | copy number gain | See cases [RCV000510716] | Chr15:24339753..25107703 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 15q11.2-26.3(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 |
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 15q11.2-13.3(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(chr15:23620191-28540415)x3 | copy number gain | not provided [RCV000683647] | Chr15:23620191..28540415 [GRCh37] Chr15:15q11.2-13.1 |
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 15q11.2-13.1(chr15:23632677-28723454)x3 | copy number gain | not provided [RCV000683649] | Chr15:23632677..28723454 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1 | copy number loss | not provided [RCV000683635] | Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1 | copy number loss | not provided [RCV000683650] | Chr15:23637603..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-12(chr15:23662481-25991024)x1 | copy number loss | not provided [RCV000683651] | Chr15:23662481..25991024 [GRCh37] Chr15:15q11.2-12 |
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 15q11.2-13.1(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(chr15:22770421-28545601)x4 | copy number gain | not provided [RCV000683632] | Chr15:22770421..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2(chr15:24791549-25174407)x3 | copy number gain | not provided [RCV000683654] | Chr15:24791549..25174407 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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(chr15:24485840-25119954)x1 | copy number loss | not provided [RCV000683653] | Chr15:24485840..25119954 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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(chr15:22770421-28823722)x1 | copy number loss | not provided [RCV000683633] | Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1 | copy number loss | not provided [RCV000683634] | Chr15:22770421..29069001 [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 15q11.2-13.3(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(chr15:22876919-28561671)x1 | copy number loss | not provided [RCV000683640] | Chr15:22876919..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1 | copy number loss | not provided [RCV000683643] | Chr15:23288374..29062203 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2(chr15:24792806-25107703)x3 | copy number gain | not provided [RCV000683655] | Chr15:24792806..25107703 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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(chr15:23286571-28823722)x1 | copy number loss | not provided [RCV000683641] | Chr15:23286571..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28705281)x1 | copy number loss | not provided [RCV000683642] | Chr15:23288374..28705281 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NC_000015.10:g.(?_24566038)_(25781223_?)del | deletion | Angelman syndrome [RCV000708384] | Chr15:24566038..25781223 [GRCh38] Chr15:24811185..26026370 [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 |
GRCh37/hg19 15q11.2(chr15:24564581-24915898)x3 | copy number gain | not provided [RCV000738672] | Chr15:24564581..24915898 [GRCh37] Chr15:15q11.2 |
benign |
GRCh37/hg19 15q11.2(chr15:24574352-24855551)x3 | copy number gain | not provided [RCV000738673] | Chr15:24574352..24855551 [GRCh37] Chr15:15q11.2 |
benign |
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 15q11.1-26.3(chr15:20016811-102493540)x3 | copy number gain | not provided [RCV000751155] | Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(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(chr15:20071673-102461162)x3 | copy number gain | not provided [RCV000751156] | Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
Single allele | complex | Esophageal atresia [RCV000986105] | Chr15:22676913..30137106 [GRCh37] Chr15:15q11.2-13.1 |
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 15q11.2-13.3(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(chr15:23683783-28530182) | copy number loss | Angelman syndrome [RCV000767725] | Chr15:23683783..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NC_000015.10:g.(?_24566038)_(25781223_?)dup | duplication | Angelman syndrome [RCV001032676] | Chr15:24811185..26026370 [GRCh37] Chr15:15q11.2-12 |
likely 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 |
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 loss | Angelman syndrome [RCV000767840] | Chr15:22816713..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 15q11.2-13.1(chr15:23810397-28525505) | copy number gain | 15q11q13 microduplication syndrome [RCV000767754] | Chr15:23810397..28525505 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(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 15q11.2-13.3(chr15:20848750-32925141) | copy number loss | Angelman syndrome [RCV000767719] | Chr15:20848750..32925141 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) | copy number gain | 15q11q13 microduplication syndrome [RCV000767720] | Chr15:22382860..32396457 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) | copy number gain | 15q11q13 microduplication syndrome [RCV000767841] | Chr15:22816713..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele | deletion | Neurodevelopmental disorder [RCV000787376] | Chr15:23699983..28436313 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele | duplication | 15q11q13 microduplication syndrome [RCV000825026] | Chr15:23810928..28544664 [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 |
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 15q11.2-12(chr15:23288374-27706996)x1 | copy number loss | not provided [RCV001006666] | Chr15:23288374..27706996 [GRCh37] Chr15:15q11.2-12 |
pathogenic |
GRCh37/hg19 15q11.2(chr15:24493020-25200390)x3 | copy number gain | not provided [RCV000849159] | Chr15:24493020..25200390 [GRCh37] Chr15:15q11.2 |
uncertain significance |
Single allele | deletion | Angelman syndrome [RCV001250751] | Chr15:23579300..28447626 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele | deletion | Angelman syndrome [RCV001250750] | Chr15:22833416..28566671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele | deletion | Angelman syndrome [RCV001250749] | Chr15:22646692..28964445 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
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 15q11.2-13.1(chr15:23616095-28538904)x1 | copy number loss | not provided [RCV001537909] | Chr15:23616095..28538904 [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 |
GRCh37/hg19 15q11.2-13.1(chr15:24740574-28659911)x1 | copy number loss | not provided [RCV001007484] | Chr15:24740574..28659911 [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(chr15:24740574-25200390)x3 | copy number gain | not provided [RCV001258584] | Chr15:24740574..25200390 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh37/hg19 15q11.2(chr15:24184681-24975056)x3 | copy number gain | not provided [RCV001258583] | Chr15:24184681..24975056 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
Single allele | complex | Distal tetrasomy 15q [RCV002280777] | Chr15:22770421..32446830 [GRCh37] Chr15:15q11.2-13.3 |
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 15q11.2-13.1(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(chr15:23208842-28525460) | copy number gain | Epileptic encephalopathy [RCV001291989] | Chr15:23208842..28525460 [GRCh37] Chr15:15q11.2-13.1 |
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(chr15:23707435-28726651)x1 | copy number loss | not provided [RCV001281355] | Chr15:23707435..28726651 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NC_000015.10:g.22804175_30375696dup | duplication | 15q11q13 microduplication syndrome [RCV001420629] | Chr15:22804175..30375696 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
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(chr15:23620191-28545601) | copy number gain | 15q11q13 microduplication syndrome [RCV002280725] | Chr15:23620191..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NC_000015.10:g.23370759_30529376del | deletion | Angelman syndrome [RCV001839262] | Chr15:23370759..30529376 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
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(chr15:20739497-28566579)x1 | copy number loss | not provided [RCV002292908] | Chr15:20739497..28566579 [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 15q11.2-13.3(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 15q11.2-13.1(chr15:22770421-29855014) | copy number loss | Angelman syndrome [RCV002280760] | Chr15:22770421..29855014 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
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 |
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 |
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(chr15:23615769-28545601)x3 | copy number gain | not provided [RCV002474488] | Chr15:23615769..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 | copy number gain | not provided [RCV002474562] | Chr15:22770422..28545355 [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(chr15:22770422-28545601)x4 | copy number gain | not provided [RCV002473936] | Chr15:22770422..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3 | copy number gain | not provided [RCV002475662] | Chr15:23632678..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1 | copy number loss | not provided [RCV002511814] | Chr15:23684645..28566612 [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 |
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 |
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 |
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 15q11.2-14(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 |
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 |
Single allele | duplication | not provided [RCV003448679] | Chr15:22750407..32516333 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NG_016177 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NR_026646 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007069208 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007069209 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007069210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007069211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007069212 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007069213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007069214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007069215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007069216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007069217 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC087463 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC139147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC139362 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC034815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC037352 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OA986466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OA986467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000561964 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000562244 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000562501 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000564898 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000565241 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000565295 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000565512 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000565893 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000566676 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000566797 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000567647 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000568019 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000568045 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000568541 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000568609 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000569908 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000570105 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000650789 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000650803 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000650870 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000650918 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000651067 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000651215 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000651227 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000651552 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000651558 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000651815 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000652025 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000652139 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000652316 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000652526 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000652735 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655991 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000657427 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000657530 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000660084 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000660695 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661140 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661593 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661753 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661971 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000662084 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663242 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663548 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663854 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665535 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000666127 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000666311 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000667431 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000667702 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000668025 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000668898 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669607 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669731 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669910 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000670594 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000670841 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NR_026646 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RGD ID: | 15096868 | ||||||||
Promoter ID: | EPDNEWNC_H1693 | ||||||||
Type: | initiation region | ||||||||
Name: | PWRN1_1 | ||||||||
Description: | Prader-Willi region non-protein coding RNA 1 [Source:HGNCSymbol;Acc:HGNC:33235] | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
COSMIC | PWRN1 | COSMIC |
Ensembl Genes | ENSG00000259905 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000568609 | ENTREZGENE |
GTEx | ENSG00000259905 | GTEx |
HGNC ID | HGNC:33235 | ENTREZGENE |
Human Proteome Map | PWRN1 | Human Proteome Map |
NCBI Gene | 791114 | ENTREZGENE |
OMIM | 611215 | OMIM |
PharmGKB | PA162400498 | PharmGKB |
RNAcentral | URS000075E11D | RNACentral |