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_000810.3(GABRA5):c.580+672T>A |
single nucleotide variant |
Lung cancer [RCV000099379] |
Chr15:26915557 [GRCh38] Chr15:27160704 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.3(GABRA5):c.580+4646A>G |
single nucleotide variant |
Lung cancer [RCV000099380] |
Chr15:26919531 [GRCh38] Chr15:27164678 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.3(GABRA5):c.580+7056C>A |
single nucleotide variant |
Lung cancer [RCV000099381] |
Chr15:26921941 [GRCh38] Chr15:27167088 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.3(GABRA5):c.878-1471C>A |
single nucleotide variant |
Lung cancer [RCV000099382] |
Chr15:26941744 [GRCh38] Chr15:27186891 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.3(GABRA5):c.982T>C (p.Tyr328His) |
single nucleotide variant |
Lung cancer [RCV000099383] |
Chr15:26943319 [GRCh38] Chr15:27188466 [GRCh37] Chr15:15q12 |
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 15q11.2-13.1(chr15:25161216-28190742)x1 |
copy number loss |
See cases [RCV000051583] |
Chr15:25161216..28190742 [GRCh38] Chr15:25406363..28435888 [GRCh37] Chr15:22957456..26109483 [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 15q11.2-13.1(chr15:24780911-29668996)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|See cases [RCV000051820] |
Chr15:24780911..29668996 [GRCh38] Chr15:25026058..29961200 [GRCh37] Chr15:22577151..27748492 [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 15q11.2-13.1(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 15q11.2-13.2(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(chr15:23319714-28190742)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(chr15:23398620-28190742)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)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 15q12(chr15:26575931-27051075)x1 |
copy number loss |
See cases [RCV000051951] |
Chr15:26575931..27051075 [GRCh38] Chr15:26821078..27296222 [GRCh37] Chr15:24372171..24878968 [NCBI36] Chr15:15q12 |
uncertain significance |
GRCh38/hg38 15q12(chr15:26856856-27620867)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052104]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052104]|See cases [RCV000052104] |
Chr15:26856856..27620867 [GRCh38] Chr15:27102003..27866013 [GRCh37] Chr15:24653096..25539608 [NCBI36] Chr15:15q12 |
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 |
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 15q11.2-12(chr15:22833525-27193380)x4 |
copy number gain |
not provided [RCV001310299] |
Chr15:22833525..27193380 [GRCh37] Chr15:15q11.2-12 |
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(chr15:23319714-28275170)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(chr15:23462288-28314291)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(chr15:23328044-28154050)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 15q11.2-13.1(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 15q11.2-13.1(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 15q11.2-13.1(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)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(chr15:23319714-30527306)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 15q11.2-14(chr15:25033869-37204304)x1 |
copy number loss |
See cases [RCV000143205] |
Chr15:25033869..37204304 [GRCh38] Chr15:25279016..37496505 [GRCh37] Chr15:22830109..35283797 [NCBI36] Chr15:15q11.2-14 |
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(chr15:23319714-28275167)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 |
Single allele |
duplication |
Autism spectrum disorder [RCV000225455] |
Chr15:20044342..28924405 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
Single allele |
duplication |
Autism spectrum disorder [RCV000225563] |
Chr15:25334522..28369712 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
duplication |
Autism spectrum disorder [RCV000225599] |
Chr15:23624148..28790734 [GRCh37] Chr15:15q11.2-13.1 |
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 15q11.2-13.3(chr15:25583931-32418279)x3 |
copy number gain |
See cases [RCV000240575] |
Chr15:25583931..32418279 [GRCh37] Chr15:15q11.2-13.3 |
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 15q11.2-13.1(chr15:22770421-29057676)x3 |
copy number gain |
FETAL DEMISE [RCV002282734] |
Chr15:22770421..29057676 [GRCh37] Chr15:15q11.2-13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398) |
copy number gain |
15q11q13 microduplication syndrome [RCV003319585] |
Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
NM_000810.4(GABRA5):c.1268G>A (p.Ser423Asn) |
single nucleotide variant |
not provided [RCV003221573] |
Chr15:26948112 [GRCh38] Chr15:27193259 [GRCh37] Chr15:15q12 |
uncertain significance |
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 15q11.2-26.3(chr15:22770422-102429112)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(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 15q11.2-26.3(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 15q12(chr15:26213602-27266045)x1 |
copy number loss |
See cases [RCV000511623] |
Chr15:26213602..27266045 [GRCh37] Chr15:15q12 |
uncertain significance |
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 15q11.2-13.1(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(chr15:22770421-31073668)x3,4 |
copy number gain |
not provided [RCV000683636] |
Chr15:22770421..31073668 [GRCh37] Chr15:15q11.2-13.2 |
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(chr15:23290786-28560269)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(chr15:23632677-28723454)x3 |
copy number gain |
not provided [RCV000683649] |
Chr15:23632677..28723454 [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(chr15:23637603-28644578)x1 |
copy number loss |
not provided [RCV000683650] |
Chr15:23637603..28644578 [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(chr15:23286571-28823722)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 |
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(chr15:22770421-28376934)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(chr15:22770421-29069001)x1 |
copy number loss |
not provided [RCV000683634] |
Chr15:22770421..29069001 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)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 15q11.2-13.3(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 |
NM_000810.4(GABRA5):c.880G>T (p.Val294Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV000850106]|not provided [RCV002279564] |
Chr15:26943217 [GRCh38] Chr15:27188364 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000810.4(GABRA5):c.100C>G (p.Pro34Ala) |
single nucleotide variant |
not provided [RCV001532246] |
Chr15:26880859 [GRCh38] Chr15:27126006 [GRCh37] Chr15:15q12 |
uncertain significance |
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 15q12(chr15:27112265-27113311)x3 |
copy number gain |
not provided [RCV000738691] |
Chr15:27112265..27113311 [GRCh37] Chr15:15q12 |
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 15q11.2-13.1(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 15q12(chr15:27112265-27112884)x1 |
copy number loss |
not provided [RCV000751220] |
Chr15:27112265..27112884 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q12(chr15:27112265-27113100)x3 |
copy number gain |
not provided [RCV000751221] |
Chr15:27112265..27113100 [GRCh37] Chr15:15q12 |
benign |
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_000810.4(GABRA5):c.878-9C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV001702127]|not provided [RCV001597653] |
Chr15:26943206 [GRCh38] Chr15:27188353 [GRCh37] Chr15:15q12 |
benign |
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 15q11.2-13.3(chr15:23213406-32446830)x1 |
copy number loss |
not provided [RCV001006665] |
Chr15:23213406..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000810.4(GABRA5):c.291C>T (p.Asp97=) |
single nucleotide variant |
not provided [RCV000885089] |
Chr15:26883351 [GRCh38] Chr15:27128498 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000810.4(GABRA5):c.1341G>A (p.Thr447=) |
single nucleotide variant |
not provided [RCV000881550] |
Chr15:26948185 [GRCh38] Chr15:27193332 [GRCh37] Chr15:15q12 |
benign |
NM_000810.4(GABRA5):c.264C>G (p.Ser88=) |
single nucleotide variant |
not provided [RCV000981251] |
Chr15:26883221 [GRCh38] Chr15:27128368 [GRCh37] Chr15:15q12 |
likely benign |
NM_000810.4(GABRA5):c.222G>A (p.Gln74=) |
single nucleotide variant |
not provided [RCV000904746] |
Chr15:26883179 [GRCh38] Chr15:27128326 [GRCh37] Chr15:15q12 |
benign|likely benign |
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(chr15:22382860-32396457) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767720] |
Chr15:22382860..32396457 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767753] |
Chr15:23810184..29213896 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) |
copy number loss |
Angelman syndrome [RCV000767721] |
Chr15:22770994..29050198 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767723] |
Chr15:22770994..28517432 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) |
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 |
NM_000810.4(GABRA5):c.610G>A (p.Val204Ile) |
single nucleotide variant |
not provided [RCV000968710] |
Chr15:26937214 [GRCh38] Chr15:27182361 [GRCh37] Chr15:15q12 |
benign |
NM_000810.4(GABRA5):c.303A>T (p.Arg101=) |
single nucleotide variant |
not provided [RCV000884745] |
Chr15:26883363 [GRCh38] Chr15:27128510 [GRCh37] Chr15:15q12 |
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 15q11.2-13.3(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(chr15:23615768-28561671) |
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(chr15:23810397-28525505) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767754] |
Chr15:23810397..28525505 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) |
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 |
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 15q11.1-13.3(chr15:20179527-32998070)x3 |
copy number gain |
not provided [RCV000846014] |
Chr15:20179527..32998070 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:24740574-28659911)x1 |
copy number loss |
not provided [RCV001007484] |
Chr15:24740574..28659911 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
duplication |
15q11q13 microduplication syndrome [RCV000825026] |
Chr15:23810928..28544664 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000810.4(GABRA5):c.1191G>A (p.Thr397=) |
single nucleotide variant |
not provided [RCV000960684] |
Chr15:26948035 [GRCh38] Chr15:27193182 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q12(chr15:26827140-27307225)x3 |
copy number gain |
not provided [RCV000849634] |
Chr15:26827140..27307225 [GRCh37] Chr15:15q12 |
uncertain significance |
Single allele |
complex |
Esophageal atresia [RCV000986105] |
Chr15:22676913..30137106 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV000986170]|not provided [RCV001561246] |
Chr15:26943239 [GRCh38] Chr15:27188386 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic |
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 |
GRCh37/hg19 15q11.2-12(chr15:23288374-27706996)x1 |
copy number loss |
not provided [RCV001006666] |
Chr15:23288374..27706996 [GRCh37] Chr15:15q11.2-12 |
pathogenic |
NM_000810.4(GABRA5):c.713G>A (p.Ser238Asn) |
single nucleotide variant |
not provided [RCV000995281] |
Chr15:26937317 [GRCh38] Chr15:27182464 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.1238C>T (p.Ser413Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV000850107] |
Chr15:26948082 [GRCh38] Chr15:27193229 [GRCh37] Chr15:15q12 |
pathogenic |
Single allele |
deletion |
Angelman syndrome [RCV001250749] |
Chr15:22646692..28964445 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000810.4(GABRA5):c.880G>C (p.Val294Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV000850105] |
Chr15:26943217 [GRCh38] Chr15:27188364 [GRCh37] Chr15:15q12 |
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 |
NC_000015.9:g.(?_26107444)_(28230334_?)del |
deletion |
Epilepsy, childhood absence, susceptibility to, 1 [RCV003105342] |
Chr15:26107444..28230334 [GRCh37] Chr15:15q12-13.1 |
pathogenic |
NM_000810.4(GABRA5):c.871G>C (p.Val291Leu) |
single nucleotide variant |
not provided [RCV001575721] |
Chr15:26940071 [GRCh38] Chr15:27185218 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000810.4(GABRA5):c.606T>C (p.Val202=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV001702038] |
Chr15:26937210 [GRCh38] Chr15:27182357 [GRCh37] Chr15:15q12 |
benign |
NM_000810.4(GABRA5):c.2T>A (p.Met1Lys) |
single nucleotide variant |
not provided [RCV001561680] |
Chr15:26869250 [GRCh38] Chr15:27114397 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.975C>T (p.Ala325=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV001703151]|not provided [RCV001661154] |
Chr15:26943312 [GRCh38] Chr15:27188459 [GRCh37] Chr15:15q12 |
benign |
NM_000810.4(GABRA5):c.878-27T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV001703311] |
Chr15:26943188 [GRCh38] Chr15:27188335 [GRCh37] Chr15:15q12 |
benign |
NM_000810.4(GABRA5):c.1017C>T (p.Ala339=) |
single nucleotide variant |
not provided [RCV000883788] |
Chr15:26943354 [GRCh38] Chr15:27188501 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000810.4(GABRA5):c.878-5C>T |
single nucleotide variant |
not provided [RCV000959135] |
Chr15:26943210 [GRCh38] Chr15:27188357 [GRCh37] Chr15:15q12 |
likely benign |
NM_000810.4(GABRA5):c.585G>A (p.Ala195=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV002505332]|not provided [RCV000910313] |
Chr15:26937189 [GRCh38] Chr15:27182336 [GRCh37] Chr15:15q12 |
benign|likely benign |
NC_000015.10:g.(?_25862297)_(26937328_?)del |
deletion |
Epilepsy, childhood absence, susceptibility to, 1 [RCV001033791] |
Chr15:26107444..27182475 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000810.4(GABRA5):c.1166C>T (p.Pro389Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV002265972]|Seizure [RCV001263393] |
Chr15:26948010 [GRCh38] Chr15:27193157 [GRCh37] Chr15:15q12 |
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 |
duplication |
15q11q13 microduplication syndrome [RCV002280354] |
Chr15:22810652..29822566 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
NM_000810.4(GABRA5):c.998C>T (p.Ser333Leu) |
single nucleotide variant |
not provided [RCV001889053] |
Chr15:26943335 [GRCh38] Chr15:27188482 [GRCh37] Chr15:15q12 |
uncertain significance |
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 |
NC_000015.10:g.22804175_30375696dup |
duplication |
15q11q13 microduplication syndrome [RCV001420629] |
Chr15:22804175..30375696 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
NM_000810.4(GABRA5):c.730T>C (p.Tyr244His) |
single nucleotide variant |
Autism spectrum disorder [RCV003128053] |
Chr15:26939930 [GRCh38] Chr15:27185077 [GRCh37] Chr15:15q12 |
likely benign |
NM_000810.4(GABRA5):c.898A>G (p.Met300Val) |
single nucleotide variant |
not provided [RCV003127008] |
Chr15:26943235 [GRCh38] Chr15:27188382 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.55del (p.Cys19fs) |
deletion |
not provided [RCV001773122] |
Chr15:26869300 [GRCh38] Chr15:27114447 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.490A>T (p.Thr164Ser) |
single nucleotide variant |
not provided [RCV001769066] |
Chr15:26883550 [GRCh38] Chr15:27128697 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.1089G>C (p.Lys363Asn) |
single nucleotide variant |
not provided [RCV001765185] |
Chr15:26943426 [GRCh38] Chr15:27188573 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.86+1G>A |
single nucleotide variant |
not specified [RCV001797893] |
Chr15:26869335 [GRCh38] Chr15:27114482 [GRCh37] Chr15:15q12 |
uncertain significance |
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 |
NM_000810.4(GABRA5):c.621C>T (p.Asn207=) |
single nucleotide variant |
not provided [RCV001815774] |
Chr15:26937225 [GRCh38] Chr15:27182372 [GRCh37] Chr15:15q12 |
likely benign |
NM_000810.4(GABRA5):c.1058G>T (p.Gly353Val) |
single nucleotide variant |
not provided [RCV001814876] |
Chr15:26943395 [GRCh38] Chr15:27188542 [GRCh37] Chr15:15q12 |
uncertain significance |
NC_000015.9:g.(?_26792940)_(28544682_?)dup |
duplication |
Epilepsy, childhood absence, susceptibility to, 1 [RCV003107872]|not provided [RCV001874738] |
Chr15:26792940..28544682 [GRCh37] Chr15:15q12-13.1 |
uncertain significance|no classifications from unflagged records |
NC_000015.10:g.23370759_30529376del |
deletion |
Angelman syndrome [RCV001839262] |
Chr15:23370759..30529376 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
NC_000015.9:g.(?_26792940)_(28544682_?)del |
deletion |
not provided [RCV001972406] |
Chr15:26792940..28544682 [GRCh37] Chr15:15q12-13.1 |
pathogenic |
NM_000810.4(GABRA5):c.725-520G>A |
single nucleotide variant |
not provided [RCV002211288] |
Chr15:26939405 [GRCh38] Chr15:27184552 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000810.4(GABRA5):c.990C>T (p.Phe330=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV003130966] |
Chr15:26943327 [GRCh38] Chr15:27188474 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.394G>T (p.Asp132Tyr) |
single nucleotide variant |
not provided [RCV002279061] |
Chr15:26883454 [GRCh38] Chr15:27128601 [GRCh37] Chr15:15q12 |
uncertain significance |
Single allele |
complex |
Distal tetrasomy 15q [RCV002280777] |
Chr15:22770421..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000810.4(GABRA5):c.1204T>G (p.Ser402Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003339943]|not provided [RCV002262456] |
Chr15:26948048 [GRCh38] Chr15:27193195 [GRCh37] Chr15:15q12 |
benign|likely benign |
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(chr15:23689315-28644578) |
copy number loss |
Angelman syndrome [RCV002280761] |
Chr15:23689315..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000810.4(GABRA5):c.725-584T>C |
single nucleotide variant |
not provided [RCV002262455] |
Chr15:26939341 [GRCh38] Chr15:27184488 [GRCh37] Chr15:15q12 |
likely benign |
NM_000810.4(GABRA5):c.902C>T (p.Thr301Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV002272577]|not provided [RCV002260729] |
Chr15:26943239 [GRCh38] Chr15:27188386 [GRCh37] Chr15:15q12 |
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 15q11.2-13.3(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(chr15:22770422-28545601)x4 |
copy number gain |
not provided [RCV002473936] |
Chr15:22770422..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1 |
copy number loss |
not provided [RCV002474513] |
Chr15:23615769..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000810.4(GABRA5):c.497+8842_497+8896del |
deletion |
Schizophrenia [RCV002463517] |
Chr15:26892395..26892449 [GRCh38] Chr15:27137542..27137596 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.72A>T (p.Leu24Phe) |
single nucleotide variant |
not provided [RCV002474018] |
Chr15:26869320 [GRCh38] Chr15:27114467 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.461G>A (p.Arg154Gln) |
single nucleotide variant |
not provided [RCV002474032] |
Chr15:26883521 [GRCh38] Chr15:27128668 [GRCh37] Chr15:15q12 |
uncertain significance |
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(chr15:23615769-28545601)x3 |
copy number gain |
not provided [RCV002474488] |
Chr15:23615769..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000810.4(GABRA5):c.117A>T (p.Lys39Asn) |
single nucleotide variant |
not provided [RCV002467285] |
Chr15:26880876 [GRCh38] Chr15:27126023 [GRCh37] Chr15:15q12 |
uncertain significance |
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 |
NM_000810.4(GABRA5):c.847C>T (p.Arg283Trp) |
single nucleotide variant |
not provided [RCV002467322] |
Chr15:26940047 [GRCh38] Chr15:27185194 [GRCh37] Chr15:15q12 |
uncertain significance |
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_000810.4(GABRA5):c.436A>G (p.Met146Val) |
single nucleotide variant |
not provided [RCV002301040] |
Chr15:26883496 [GRCh38] Chr15:27128643 [GRCh37] Chr15:15q12 |
uncertain significance |
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(chr15:23684645-28566612)x1 |
copy number loss |
not provided [RCV002511814] |
Chr15:23684645..28566612 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000810.4(GABRA5):c.220C>A (p.Gln74Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002992594] |
Chr15:26883177 [GRCh38] Chr15:27128324 [GRCh37] Chr15:15q12 |
likely benign |
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_000810.4(GABRA5):c.180C>G (p.Tyr60Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002846024] |
Chr15:26880939 [GRCh38] Chr15:27126086 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.101C>T (p.Pro34Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002803905] |
Chr15:26880860 [GRCh38] Chr15:27126007 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.221A>G (p.Gln74Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002702921] |
Chr15:26883178 [GRCh38] Chr15:27128325 [GRCh37] Chr15:15q12 |
uncertain significance |
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_000810.4(GABRA5):c.74C>G (p.Ser25Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV003135307] |
Chr15:26869322 [GRCh38] Chr15:27114469 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.983_988del (p.Tyr328_Ala329del) |
deletion |
Developmental and epileptic encephalopathy, 79 [RCV003135308] |
Chr15:26943318..26943323 [GRCh38] Chr15:27188465..27188470 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.1186G>T (p.Gly396Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003220202] |
Chr15:26948030 [GRCh38] Chr15:27193177 [GRCh37] Chr15:15q12 |
uncertain significance |
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 |
NM_000810.4(GABRA5):c.474C>T (p.Asp158=) |
single nucleotide variant |
not provided [RCV003326903] |
Chr15:26883534 [GRCh38] Chr15:27128681 [GRCh37] Chr15:15q12 |
likely benign |
NM_000810.4(GABRA5):c.693G>A (p.Thr231=) |
single nucleotide variant |
not provided [RCV003326904] |
Chr15:26937297 [GRCh38] Chr15:27182444 [GRCh37] Chr15:15q12 |
likely benign |
NM_000810.4(GABRA5):c.313A>G (p.Lys105Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 79 [RCV003338099] |
Chr15:26883373 [GRCh38] Chr15:27128520 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.475G>C (p.Gly159Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003347358] |
Chr15:26883535 [GRCh38] Chr15:27128682 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.209-7C>G |
single nucleotide variant |
not provided [RCV003393669] |
Chr15:26883159 [GRCh38] Chr15:27128306 [GRCh37] Chr15:15q12 |
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 |
Single allele |
duplication |
not provided [RCV003448679] |
Chr15:22750407..32516333 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000810.4(GABRA5):c.228G>A (p.Arg76=) |
single nucleotide variant |
not provided [RCV003393670] |
Chr15:26883185 [GRCh38] Chr15:27128332 [GRCh37] Chr15:15q12 |
likely benign |
NM_000810.4(GABRA5):c.757C>G (p.Leu253Val) |
single nucleotide variant |
not provided [RCV003443703] |
Chr15:26939957 [GRCh38] Chr15:27185104 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.1155C>T (p.Pro385=) |
single nucleotide variant |
not provided [RCV003390465] |
Chr15:26947999 [GRCh38] Chr15:27193146 [GRCh37] Chr15:15q12 |
benign |
NM_000810.4(GABRA5):c.1299C>T (p.Phe433=) |
single nucleotide variant |
not provided [RCV003390466] |
Chr15:26948143 [GRCh38] Chr15:27193290 [GRCh37] Chr15:15q12 |
likely benign |
NM_000810.4(GABRA5):c.725-672C>T |
single nucleotide variant |
not provided [RCV003393673] |
Chr15:26939253 [GRCh38] Chr15:27184400 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.369C>T (p.Leu123=) |
single nucleotide variant |
not provided [RCV003393671] |
Chr15:26883429 [GRCh38] Chr15:27128576 [GRCh37] Chr15:15q12 |
likely benign |
NM_000810.4(GABRA5):c.472G>T (p.Asp158Tyr) |
single nucleotide variant |
not provided [RCV003393672] |
Chr15:26883532 [GRCh38] Chr15:27128679 [GRCh37] Chr15:15q12 |
uncertain significance |