NM_004667.6(HERC2):c.323-4749G>A |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000005009] |
Chr15:28285036 [GRCh38] Chr15:28530182 [GRCh37] Chr15:15q13.1 |
pathogenic|association |
NM_004667.6(HERC2):c.1598+247A>G |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000005010] |
Chr15:28268218 [GRCh38] Chr15:28513364 [GRCh37] Chr15:15q13.1 |
pathogenic|association|affects |
NM_004667.6(HERC2):c.13272+874T>C |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000005011] |
Chr15:28120472 [GRCh38] Chr15:28365618 [GRCh37] Chr15:15q13.1 |
pathogenic|association |
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_004667.6(HERC2):c.11675C>T (p.Pro3892Leu) |
single nucleotide variant |
not provided [RCV003321288] |
Chr15:28142263 [GRCh38] Chr15:28387409 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser) |
single nucleotide variant |
Elevated circulating creatine kinase concentration [RCV000735404]|Inborn genetic diseases [RCV002536541] |
Chr15:28229535 [GRCh38] Chr15:28474681 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4144C>T (p.Arg1382Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002527651]|not provided [RCV001696928] |
Chr15:28234144 [GRCh38] Chr15:28479290 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_004667.6(HERC2):c.1012T>G (p.Leu338Val) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333282]|not provided [RCV000519408] |
Chr15:28272286 [GRCh38] Chr15:28517432 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12697T>A (p.Ser4233Thr) |
single nucleotide variant |
not provided [RCV000521164] |
Chr15:28130268 [GRCh38] Chr15:28375414 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6644G>A (p.Gly2215Asp) |
single nucleotide variant |
not provided [RCV000522026] |
Chr15:28213884 [GRCh38] Chr15:28459030 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1781C>T (p.Pro594Leu) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV000074397] |
Chr15:28265707 [GRCh38] Chr15:28510853 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_004667.5(HERC2):c.10058-965C>T |
single nucleotide variant |
Lung cancer [RCV000099402] |
Chr15:28170620 [GRCh38] Chr15:28415766 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.5(HERC2):c.9832-259A>G |
single nucleotide variant |
Lung cancer [RCV000099403] |
Chr15:28174879 [GRCh38] Chr15:28420025 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.5(HERC2):c.5272+303G>T |
single nucleotide variant |
Lung cancer [RCV000099404] |
Chr15:28228892 [GRCh38] Chr15:28474038 [GRCh37] Chr15:15q13.1 |
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 15q13.1-13.3(chr15:28314197-32343758)x1 |
copy number loss |
See cases [RCV000050564] |
Chr15:28314197..32343758 [GRCh38] Chr15:28579796..32635959 [GRCh37] Chr15:26232938..30423251 [NCBI36] Chr15:15q13.1-13.3 |
pathogenic |
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 15q11.2-13.2(chr15:22144677-30349193)x1 |
copy number loss |
See cases [RCV000052348] |
Chr15:22144677..30349193 [GRCh38] Chr15:22432628..30641396 [GRCh37] Chr15:19933992..28428688 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28272443)x1 |
copy number loss |
See cases [RCV000052376] |
Chr15:23375083..28272443 [GRCh38] Chr15:23620230..28517589 [GRCh37] Chr15:21171671..26191184 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x3 |
copy number gain |
See cases [RCV000052378] |
Chr15:23398620..28190742 [GRCh38] Chr15:23643767..28435888 [GRCh37] Chr15:21195208..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x1 |
copy number loss |
See cases [RCV000052379] |
Chr15:23398620..28190742 [GRCh38] Chr15:23643767..28435888 [GRCh37] Chr15:21195208..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28446314)x1 |
copy number loss |
See cases [RCV000052380] |
Chr15:23398620..28446314 [GRCh38] Chr15:23643767..28691460 [GRCh37] Chr15:21195208..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28275308)x1 |
copy number loss |
See cases [RCV000052381] |
Chr15:23411589..28275308 [GRCh38] Chr15:23656736..28520454 [GRCh37] Chr15:21208177..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x3 |
copy number gain |
See cases [RCV000052349] |
Chr15:23319714..28190742 [GRCh38] Chr15:22669052..28435888 [GRCh37] Chr15:20220416..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1 |
copy number loss |
See cases [RCV000052350] |
Chr15:23319714..28190742 [GRCh38] Chr15:22669052..28435888 [GRCh37] Chr15:20220416..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 |
copy number gain |
See cases [RCV000052300] |
Chr15:19879749..28918517 [GRCh38] Chr15:20085002..29210720 [GRCh37] Chr15:18345016..26998012 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 |
copy number gain |
See cases [RCV000052301] |
Chr15:19879749..28702163 [GRCh38] Chr15:20085002..28947309 [GRCh37] Chr15:18345016..26746350 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)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 15q11.2-13.1(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 |
NM_004667.5(HERC2):c.9161C>T (p.Ser3054Leu) |
single nucleotide variant |
Malignant melanoma [RCV000070710] |
Chr15:28178889 [GRCh38] Chr15:28424035 [GRCh37] Chr15:26097630 [NCBI36] Chr15:15q13.1 |
not provided |
NM_004667.5(HERC2):c.6513C>T (p.Leu2171=) |
single nucleotide variant |
Malignant melanoma [RCV000070711] |
Chr15:28214118 [GRCh38] Chr15:28459264 [GRCh37] Chr15:26132859 [NCBI36] Chr15:15q13.1 |
not provided |
NM_004667.5(HERC2):c.4295C>T (p.Pro1432Leu) |
single nucleotide variant |
Malignant melanoma [RCV000070712] |
Chr15:28233720 [GRCh38] Chr15:28478866 [GRCh37] Chr15:26152461 [NCBI36] Chr15:15q13.1 |
not provided |
NM_004667.5(HERC2):c.943C>T (p.Gln315Ter) |
single nucleotide variant |
Malignant melanoma [RCV000070713] |
Chr15:28272355 [GRCh38] Chr15:28517501 [GRCh37] Chr15:26191096 [NCBI36] Chr15:15q13.1 |
not provided |
NM_004667.5(HERC2):c.7628C>T (p.Ala2543Val) |
single nucleotide variant |
Malignant melanoma [RCV000062843] |
Chr15:28201544 [GRCh38] Chr15:28446690 [GRCh37] Chr15:26120285 [NCBI36] Chr15:15q13.1 |
not provided |
NM_004667.6(HERC2):c.10840G>A (p.Val3614Met) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV000660624] |
Chr15:28152737 [GRCh38] Chr15:28397883 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.5(HERC2):c.72+3391G>T |
single nucleotide variant |
Lung cancer [RCV000087801] |
Chr15:28317971 [GRCh38] Chr15:28563117 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4095C>T (p.Ser1365=) |
single nucleotide variant |
not provided [RCV002292894] |
Chr15:28234193 [GRCh38] Chr15:28479339 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.5872C>G (p.His1958Asp) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001331285] |
Chr15:28218645 [GRCh38] Chr15:28463791 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6730G>A (p.Val2244Met) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001331286] |
Chr15:28213798 [GRCh38] Chr15:28458944 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10021C>T (p.Gln3341Ter) |
single nucleotide variant |
not provided [RCV001703354] |
Chr15:28174431 [GRCh38] Chr15:28419577 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_004667.6(HERC2):c.2602A>G (p.Thr868Ala) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001331282] |
Chr15:28256233 [GRCh38] Chr15:28501379 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8461C>T (p.Arg2821Cys) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001331290] |
Chr15:28191235 [GRCh38] Chr15:28436381 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8614G>C (p.Asp2872His) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001331291] |
Chr15:28191000 [GRCh38] Chr15:28436146 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4043C>T (p.Thr1348Ile) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001331283] |
Chr15:28234245 [GRCh38] Chr15:28479391 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.293T>C (p.Leu98Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002569103]|not provided [RCV001579538] |
Chr15:28292917 [GRCh38] Chr15:28538063 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7069+3G>A |
single nucleotide variant |
Prader-Willi syndrome [RCV001331287] |
Chr15:28210999 [GRCh38] Chr15:28456145 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3071T>C (p.Val1024Ala) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333288]|Inborn genetic diseases [RCV002546623] |
Chr15:28248716 [GRCh38] Chr15:28493862 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 15q12-13.1(chr15:27743987-28275167)x3 |
copy number gain |
See cases [RCV000134166] |
Chr15:27743987..28275167 [GRCh38] Chr15:27989133..28520313 [GRCh37] Chr15:25662728..26193908 [NCBI36] Chr15:15q12-13.1 |
likely benign |
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 15q13.1(chr15:28111211-28154050)x3 |
copy number gain |
See cases [RCV000134634] |
Chr15:28111211..28154050 [GRCh38] Chr15:28356357..28399196 [GRCh37] Chr15:26029952..26072791 [NCBI36] Chr15:15q13.1 |
benign |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28275170)x1 |
copy number loss |
See cases [RCV000134053] |
Chr15:23462288..28275170 [GRCh38] Chr15:23707435..28520316 [GRCh37] Chr15:21258528..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28314291)x1 |
copy number loss |
See cases [RCV000134115] |
Chr15:23462288..28314291 [GRCh38] Chr15:23707435..28557186 [GRCh37] Chr15:21258528..26233032 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275170)x3 |
copy number gain |
See cases [RCV000134062] |
Chr15:23319714..28275170 [GRCh38] Chr15:22765637..28520316 [GRCh37] Chr15:20317001..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28347620)x1 |
copy number loss |
See cases [RCV000134074] |
Chr15:23319714..28347620 [GRCh38] Chr15:23353638..28592766 [GRCh37] Chr15:20905079..26266361 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000134082] |
Chr15:22358243..28481444 [GRCh38] Chr15:22652047..28705151 [GRCh37] Chr15:20203411..26524679 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x1 |
copy number loss |
See cases [RCV000135313] |
Chr15:23328044..28154050 [GRCh38] Chr15:22860857..28399196 [GRCh37] Chr15:20412298..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28275170)x1 |
copy number loss |
See cases [RCV000134776] |
Chr15:23410917..28275170 [GRCh38] Chr15:23656064..28520316 [GRCh37] Chr15:21207505..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q13.1(chr15:28314232-28840742)x1 |
copy number loss |
See cases [RCV000134859] |
Chr15:28314232..28840742 [GRCh38] Chr15:28579796..29085888 [GRCh37] Chr15:26232973..26884929 [NCBI36] Chr15:15q13.1 |
likely benign |
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 |
NM_004667.6(HERC2):c.7411T>C (p.Ser2471Pro) |
single nucleotide variant |
not specified [RCV000202838] |
Chr15:28202416 [GRCh38] Chr15:28447562 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.905C>T (p.Thr302Met) |
single nucleotide variant |
not specified [RCV000202862] |
Chr15:28272900 [GRCh38] Chr15:28518046 [GRCh37] Chr15:15q13.1 |
benign |
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 |
NM_004667.6(HERC2):c.2389A>G (p.Met797Val) |
single nucleotide variant |
not provided [RCV000965953]|not specified [RCV000202943] |
Chr15:28257189 [GRCh38] Chr15:28502335 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
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 15q13.1(chr15:28314232-28459561)x3 |
copy number gain |
See cases [RCV000139068] |
Chr15:28314232..28459561 [GRCh38] Chr15:28579796..28704707 [GRCh37] Chr15:26232973..26378302 [NCBI36] Chr15:15q13.1 |
likely benign |
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 |
NM_004667.6(HERC2):c.815C>T (p.Thr272Met) |
single nucleotide variant |
not provided [RCV001568861]|not specified [RCV000202964] |
Chr15:28272990 [GRCh38] Chr15:28518136 [GRCh37] Chr15:15q13.1 |
benign|uncertain significance |
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 15q12-13.1(chr15:27713721-28154050)x3 |
copy number gain |
See cases [RCV000141409] |
Chr15:27713721..28154050 [GRCh38] Chr15:27958867..28399196 [GRCh37] Chr15:25632462..26072791 [NCBI36] Chr15:15q12-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000141251] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28976193 [GRCh37] Chr15:20316992..26775234 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 |
copy number loss |
See cases [RCV000140712] |
Chr15:23319714..28446314 [GRCh38] Chr15:22765628..28691460 [GRCh37] Chr15:20316992..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000140871] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29096442 [GRCh37] Chr15:20316992..26895483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300209)x1 |
copy number loss |
See cases [RCV000140888] |
Chr15:23328044..28300209 [GRCh38] Chr15:23286571..28545355 [GRCh37] Chr15:20838012..26218950 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 |
copy number gain |
See cases [RCV000140619] |
Chr15:21581401..28332641 [GRCh38] Chr15:22304596..28577787 [GRCh37] Chr15:19805960..26251382 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3 |
copy number gain |
See cases [RCV000140622] |
Chr15:23328044..28154050 [GRCh38] Chr15:23569415..28399196 [GRCh37] Chr15:21120856..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 |
copy number gain |
See cases [RCV000140623] |
Chr15:19840581..32621939 [GRCh38] Chr15:20045834..32914140 [GRCh37] Chr15:18305848..30701432 [NCBI36] Chr15:15q11.1-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28414765)x1 |
copy number loss |
See cases [RCV000141946] |
Chr15:23370621..28414765 [GRCh38] Chr15:23615768..28659911 [GRCh37] Chr15:21167209..26333506 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_004667.6(HERC2):c.821C>G (p.Ala274Gly) |
single nucleotide variant |
not specified [RCV000203166] |
Chr15:28272984 [GRCh38] Chr15:28518130 [GRCh37] Chr15:15q13.1 |
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 |
NM_004667.6(HERC2):c.2747-3C>A |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV003147405]|not provided [RCV000727185]|not specified [RCV000203211] |
Chr15:28255999 [GRCh38] Chr15:28501145 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)x1 |
copy number loss |
See cases [RCV000142069] |
Chr15:23328044..28315123 [GRCh38] Chr15:22770421..28560269 [GRCh37] Chr15:20321785..26233864 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)x1 |
copy number loss |
See cases [RCV000142233] |
Chr15:23328044..28315951 [GRCh38] Chr15:23290786..28561097 [GRCh37] Chr15:20842227..26234692 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28464569)x1 |
copy number loss |
See cases [RCV000142103] |
Chr15:23328044..28464569 [GRCh38] Chr15:22770421..28709715 [GRCh37] Chr15:20321785..26378746 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28578576)x1 |
copy number loss |
See cases [RCV000142234] |
Chr15:23370621..28578576 [GRCh38] Chr15:23615768..28823722 [GRCh37] Chr15:21167209..26622763 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300358)x1 |
copy number loss |
See cases [RCV000142170] |
Chr15:23375044..28300358 [GRCh38] Chr15:23620191..28545504 [GRCh37] Chr15:21171632..26219099 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300358)x1 |
copy number loss |
See cases [RCV000142132] |
Chr15:23328044..28300358 [GRCh38] Chr15:23286571..28545504 [GRCh37] Chr15:20838012..26219099 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1 |
copy number loss |
See cases [RCV000142046] |
Chr15:23328044..30077815 [GRCh38] Chr15:23276605..30370018 [GRCh37] Chr15:20828046..28157310 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28280314)x3 |
copy number gain |
See cases [RCV000142854] |
Chr15:23398620..28280314 [GRCh38] Chr15:23643767..28525460 [GRCh37] Chr15:21195208..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 |
copy number loss |
See cases [RCV000142766] |
Chr15:23319714..28314256 [GRCh38] Chr15:22765628..28559402 [GRCh37] Chr15:20316992..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000142713] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29085896 [GRCh37] Chr15:20316992..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000142795] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28912057 [GRCh37] Chr15:20316992..26711098 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4 |
copy number gain |
See cases [RCV000142791] |
Chr15:23319714..30527306 [GRCh38] Chr15:22765628..30819509 [GRCh37] Chr15:20316992..28606801 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30094350)x4 |
copy number gain |
See cases [RCV000143379] |
Chr15:23328044..30094350 [GRCh38] Chr15:22770421..30386553 [GRCh37] Chr15:20321785..28173845 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28389912)x1 |
copy number loss |
See cases [RCV000143443] |
Chr15:23370622..28389912 [GRCh38] Chr15:23615769..28635058 [GRCh37] Chr15:21167210..26308653 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28446314)x1 |
copy number loss |
See cases [RCV000143183] |
Chr15:23422864..28446314 [GRCh38] Chr15:23668011..28691460 [GRCh37] Chr15:21219452..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28460005)x1 |
copy number loss |
See cases [RCV000143185] |
Chr15:23422864..28460005 [GRCh38] Chr15:23668011..28801348 [GRCh37] Chr15:21219452..26600389 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28683584)x4 |
copy number gain |
See cases [RCV000143291] |
Chr15:23328044..28683584 [GRCh38] Chr15:22770421..28928730 [GRCh37] Chr15:20321785..26727771 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1 |
copy number loss |
See cases [RCV000143226] |
Chr15:23328044..30023809 [GRCh38] Chr15:22770422..30316012 [GRCh37] Chr15:20321786..28103304 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-14(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 15q11.2-13.1(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 |
NM_004667.6(HERC2):c.12310G>A (p.Ala4104Thr) |
single nucleotide variant |
not provided [RCV001571027] |
Chr15:28132751 [GRCh38] Chr15:28377897 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 |
deletion |
Angelman syndrome [RCV001250751] |
Chr15:23579300..28447626 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
deletion |
Angelman syndrome [RCV001250749] |
Chr15:22646692..28964445 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_004667.6(HERC2):c.7316C>A (p.Ala2439Asp) |
single nucleotide variant |
not provided [RCV000224091] |
Chr15:28202511 [GRCh38] Chr15:28447657 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_004667.6(HERC2):c.7729G>A (p.Val2577Ile) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000603184]|not provided [RCV000224479] |
Chr15:28198757 [GRCh38] Chr15:28443903 [GRCh37] Chr15:15q13.1 |
uncertain significance |
Single allele |
duplication |
Autism spectrum disorder [RCV000225455] |
Chr15:20044342..28924405 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
NM_004667.6(HERC2):c.5132C>T (p.Thr1711Ile) |
single nucleotide variant |
not provided [RCV000224581] |
Chr15:28229335 [GRCh38] Chr15:28474481 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 |
NM_004667.6(HERC2):c.7361C>T (p.Ser2454Leu) |
single nucleotide variant |
not specified [RCV000239356] |
Chr15:28202466 [GRCh38] Chr15:28447612 [GRCh37] Chr15:15q13.1 |
pathogenic|uncertain significance |
NM_004667.6(HERC2):c.10474T>C (p.Ser3492Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002525247]|not provided [RCV000520105] |
Chr15:28167767 [GRCh38] Chr15:28412913 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
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 |
NM_004667.6(HERC2):c.3629T>C (p.Ile1210Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000622275]|not provided [RCV001591395] |
Chr15:28238721 [GRCh38] Chr15:28483867 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 |
NM_004667.6(HERC2):c.4625G>A (p.Arg1542His) |
single nucleotide variant |
not provided [RCV000522564] |
Chr15:28233196 [GRCh38] Chr15:28478342 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 |
NM_004667.6(HERC2):c.2603C>A (p.Thr868Lys) |
single nucleotide variant |
not provided [RCV000520711] |
Chr15:28256232 [GRCh38] Chr15:28501378 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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(chr15:23290862-28522838) |
copy number loss |
Angelman syndrome [RCV002280758] |
Chr15:23290862..28522838 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
complex |
Distal tetrasomy 15q [RCV002280777] |
Chr15:22770421..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_004667.6(HERC2):c.11992T>C (p.Phe3998Leu) |
single nucleotide variant |
not provided [RCV003238934] |
Chr15:28141455 [GRCh38] Chr15:28386601 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1597G>A (p.Val533Met) |
single nucleotide variant |
not provided [RCV000489021] |
Chr15:28268466 [GRCh38] Chr15:28513612 [GRCh37] Chr15:15q13.1 |
uncertain significance |
Single allele |
deletion |
Prader-Willi syndrome [RCV000520873] |
Chr15:23707435..28520316 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_004667.6(HERC2):c.5374A>G (p.Met1792Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002525180]|Prader-Willi syndrome [RCV002481712]|not provided [RCV000522982] |
Chr15:28228308 [GRCh38] Chr15:28473454 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8312A>T (p.His2771Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000623319]|not provided [RCV003225099] |
Chr15:28192100 [GRCh38] Chr15:28437246 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6551A>C (p.Glu2184Ala) |
single nucleotide variant |
not provided [RCV000520594] |
Chr15:28214080 [GRCh38] Chr15:28459226 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8342G>C (p.Ser2781Thr) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV002289713]|Inborn genetic diseases [RCV002528277]|not provided [RCV000520647] |
Chr15:28192070 [GRCh38] Chr15:28437216 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_004667.6(HERC2):c.9490C>T (p.Gln3164Ter) |
single nucleotide variant |
not provided [RCV000598893] |
Chr15:28176711 [GRCh38] Chr15:28421857 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10931G>A (p.Arg3644Gln) |
single nucleotide variant |
not provided [RCV000522299] |
Chr15:28146314 [GRCh38] Chr15:28391460 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) |
copy number gain |
Autism [RCV000626505] |
Chr15:23810397..29213787 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_004667.6(HERC2):c.983G>A (p.Arg328His) |
single nucleotide variant |
not specified [RCV000414554] |
Chr15:28272315 [GRCh38] Chr15:28517461 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6976del (p.Ile2325_Leu2326insTer) |
deletion |
Motor delay [RCV000414953] |
Chr15:28211095 [GRCh38] Chr15:28456241 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_004667.6(HERC2):c.8399G>A (p.Arg2800His) |
single nucleotide variant |
Prader-Willi syndrome [RCV002490924]|not provided [RCV000522432] |
Chr15:28192013 [GRCh38] Chr15:28437159 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6488T>C (p.Ile2163Thr) |
single nucleotide variant |
not specified [RCV000413947] |
Chr15:28214143 [GRCh38] Chr15:28459289 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 |
NM_004667.6(HERC2):c.12757G>A (p.Ala4253Thr) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV003333069]|Global developmental delay [RCV000449631]|not provided [RCV002525533] |
Chr15:28130208 [GRCh38] Chr15:28375354 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 15q13.1(chr15:28349513-28437018)x3 |
copy number gain |
See cases [RCV000449289] |
Chr15:28349513..28437018 [GRCh37] Chr15:15q13.1 |
likely benign |
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 |
NM_004667.6(HERC2):c.11698G>A (p.Glu3900Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002525517]|not provided [RCV000427910] |
Chr15:28142240 [GRCh38] Chr15:28387386 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2264T>C (p.Leu755Ser) |
single nucleotide variant |
Breast neoplasm [RCV000419806] |
Chr15:28260829 [GRCh38] Chr15:28505975 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_004667.6(HERC2):c.926C>G (p.Ala309Gly) |
single nucleotide variant |
Breast neoplasm [RCV000428747] |
Chr15:28272372 [GRCh38] Chr15:28517518 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_004667.6(HERC2):c.2263_2277del (p.Leu755_Asp759del) |
deletion |
Breast neoplasm [RCV000437067] |
Chr15:28260816..28260830 [GRCh38] Chr15:28505962..28505976 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_004667.6(HERC2):c.11716C>T (p.Arg3906Cys) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001782906]|not provided [RCV000421606] |
Chr15:28141831 [GRCh38] Chr15:28386977 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13612G>A (p.Val4538Met) |
single nucleotide variant |
Prader-Willi syndrome [RCV000763955]|not provided [RCV000439219] |
Chr15:28115539 [GRCh38] Chr15:28360685 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10274C>T (p.Pro3425Leu) |
single nucleotide variant |
not provided [RCV000427406] |
Chr15:28168546 [GRCh38] Chr15:28413692 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_004667.6(HERC2):c.4009C>T (p.Leu1337Phe) |
single nucleotide variant |
not provided [RCV000427462] |
Chr15:28234279 [GRCh38] Chr15:28479425 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.7058C>G (p.Thr2353Ser) |
single nucleotide variant |
not provided [RCV000429604]|not specified [RCV000609136] |
Chr15:28211013 [GRCh38] Chr15:28456159 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
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 |
NM_004667.6(HERC2):c.2945A>G (p.His982Arg) |
single nucleotide variant |
not provided [RCV000433840] |
Chr15:28254445 [GRCh38] Chr15:28499591 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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(chr15:23290862-28534245)x3 |
copy number gain |
See cases [RCV000448566] |
Chr15:23290862..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)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(chr15:23620191-28545601)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 |
NM_004667.6(HERC2):c.12801T>A (p.Asp4267Glu) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV000490894]|Inborn genetic diseases [RCV000623625]|not specified [RCV000454954] |
Chr15:28130164 [GRCh38] Chr15:28375310 [GRCh37] Chr15:15q13.1 |
pathogenic|benign |
NM_004667.6(HERC2):c.7594G>A (p.Val2532Met) |
single nucleotide variant |
not provided [RCV001643152]|not specified [RCV000455324] |
Chr15:28202136 [GRCh38] Chr15:28447282 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.10161G>C (p.Leu3387Phe) |
single nucleotide variant |
not provided [RCV000486637] |
Chr15:28169552 [GRCh38] Chr15:28414698 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.836del (p.Gly279fs) |
deletion |
not specified [RCV000456028] |
Chr15:28272969 [GRCh38] Chr15:28518115 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.757G>A (p.Val253Met) |
single nucleotide variant |
not provided [RCV000483108] |
Chr15:28274334 [GRCh38] Chr15:28519480 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 15q12-13.1(chr15:28036720-29244373)x3 |
copy number gain |
See cases [RCV000510634] |
Chr15:28036720..29244373 [GRCh37] Chr15:15q12-13.1 |
uncertain significance |
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 |
NC_000015.9:g.28447255A>C |
single nucleotide variant |
Diabetes mellitus AND insipidus with optic atrophy AND deafness [RCV000509517] |
Chr15:28447255 [GRCh37] Chr15:15q13.1 |
pathogenic|not provided |
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)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
NM_004667.6(HERC2):c.1123A>G (p.Arg375Gly) |
single nucleotide variant |
not provided [RCV000493708] |
Chr15:28270829 [GRCh38] Chr15:28515975 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 |
NM_004667.6(HERC2):c.7195G>T (p.Asp2399Tyr) |
single nucleotide variant |
not specified [RCV000493983] |
Chr15:28206257 [GRCh38] Chr15:28451403 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 15q11.2-13.1(chr15:23620191-28534245)x3 |
copy number gain |
See cases [RCV000510737] |
Chr15:23620191..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(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(chr15:22770421-28561671)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 |
NM_004667.6(HERC2):c.3347G>A (p.Arg1116Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003273773] |
Chr15:28246786 [GRCh38] Chr15:28491932 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8582T>C (p.Ile2861Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003258071] |
Chr15:28191032 [GRCh38] Chr15:28436178 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.547C>T (p.Arg183Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003281135] |
Chr15:28275001 [GRCh38] Chr15:28520147 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4277T>C (p.Met1426Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003281610] |
Chr15:28233738 [GRCh38] Chr15:28478884 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10747-4C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002528643]|not specified [RCV000600135] |
Chr15:28152834 [GRCh38] Chr15:28397980 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.6335C>T (p.Ser2112Phe) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV000626285] |
Chr15:28214678 [GRCh38] Chr15:28459824 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.14092G>A (p.Ala4698Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003291068] |
Chr15:28113211 [GRCh38] Chr15:28358357 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.14096C>T (p.Ser4699Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003273321]|not provided [RCV003443193] |
Chr15:28113207 [GRCh38] Chr15:28358353 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7669T>A (p.Phe2557Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003276086] |
Chr15:28201503 [GRCh38] Chr15:28446649 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13387C>T (p.His4463Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003272403] |
Chr15:28117040 [GRCh38] Chr15:28362186 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5797G>A (p.Ala1933Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003287910] |
Chr15:28220500 [GRCh38] Chr15:28465646 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5440A>G (p.Thr1814Ala) |
single nucleotide variant |
not provided [RCV000513909] |
Chr15:28228242 [GRCh38] Chr15:28473388 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.5429T>C (p.Met1810Thr) |
single nucleotide variant |
not provided [RCV000514091] |
Chr15:28228253 [GRCh38] Chr15:28473399 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1083C>T (p.His361=) |
single nucleotide variant |
not provided [RCV000514125] |
Chr15:28272215 [GRCh38] Chr15:28517361 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.11672C>T (p.Thr3891Ile) |
single nucleotide variant |
not provided [RCV000524091] |
Chr15:28142266 [GRCh38] Chr15:28387412 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13046G>A (p.Arg4349His) |
single nucleotide variant |
Inborn genetic diseases [RCV000624694] |
Chr15:28124179 [GRCh38] Chr15:28369325 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10969G>A (p.Val3657Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV000623958]|not provided [RCV000514990] |
Chr15:28146276 [GRCh38] Chr15:28391422 [GRCh37] Chr15:15q13.1 |
benign|likely benign|uncertain significance |
NM_004667.6(HERC2):c.1411C>T (p.Arg471Cys) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333285]|Inborn genetic diseases [RCV000623078] |
Chr15:28269283 [GRCh38] Chr15:28514429 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 |
NM_004667.6(HERC2):c.9710T>A (p.Leu3237Ter) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV000626149] |
Chr15:28175633 [GRCh38] Chr15:28420779 [GRCh37] Chr15:15q13.1 |
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 |
NM_004667.6(HERC2):c.5402A>G (p.Asn1801Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV000622758] |
Chr15:28228280 [GRCh38] Chr15:28473426 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4651A>C (p.Ile1551Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000623159]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000610058]|not provided [RCV001532250] |
Chr15:28233170 [GRCh38] Chr15:28478316 [GRCh37] Chr15:15q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 15q13.1-13.3(chr15:28547475-32446830)x1 |
copy number loss |
See cases [RCV000512490] |
Chr15:28547475..32446830 [GRCh37] Chr15:15q13.1-13.3 |
pathogenic |
NM_004667.6(HERC2):c.2549C>T (p.Pro850Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000624393]|not provided [RCV003441973] |
Chr15:28256286 [GRCh38] Chr15:28501432 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3421A>G (p.Ile1141Val) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV000681663] |
Chr15:28246037 [GRCh38] Chr15:28491183 [GRCh37] Chr15:15q13.1 |
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(chr15:22770421-28545601)x4 |
copy number gain |
not provided [RCV000683632] |
Chr15:22770421..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3 |
copy number gain |
not provided [RCV000683645] |
Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3 |
copy number gain |
not provided [RCV000683637] |
Chr15:22770421..32421780 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(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(chr15:23286571-28823722)x1 |
copy number loss |
not provided [RCV000683641] |
Chr15:23286571..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28560269)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)x1 |
copy number loss |
not provided [RCV000683646] |
Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1 |
copy number loss |
not provided [RCV000683650] |
Chr15:23637603..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1 |
copy number loss |
not provided [RCV000683640] |
Chr15:22876919..28561671 [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 15q11.2-13.1(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(chr15:23632677-28534458)x3 |
copy number gain |
not provided [RCV000683648] |
Chr15:23632677..28534458 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q13.1-13.2(chr15:28376935-31108698)x3 |
copy number gain |
not provided [RCV000683657] |
Chr15:28376935..31108698 [GRCh37] Chr15:15q13.1-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1 |
copy number loss |
not provided [RCV000683643] |
Chr15:23288374..29062203 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3 |
copy number gain |
not provided [RCV000683647] |
Chr15:23620191..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 |
copy number gain |
not provided [RCV000683631] |
Chr15:22770421..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1 |
copy number loss |
not provided [RCV000683635] |
Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(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(chr15:23288374-28705281)x1 |
copy number loss |
not provided [RCV000683642] |
Chr15:23288374..28705281 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3 |
copy number gain |
not provided [RCV000683649] |
Chr15:23632677..28723454 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_004667.6(HERC2):c.7617+4A>C |
single nucleotide variant |
Wolfram syndrome 1 [RCV000509517] |
Chr15:28202109 [GRCh38] Chr15:28447255 [GRCh37] Chr15:15q13.1 |
not provided |
NM_004667.6(HERC2):c.1161T>C (p.Ile387=) |
single nucleotide variant |
not provided [RCV001532251] |
Chr15:28270791 [GRCh38] Chr15:28515937 [GRCh37] Chr15:15q13.1 |
likely benign |
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 15q12-13.1(chr15:27496959-28924405)x3 |
copy number gain |
not provided [RCV000738695] |
Chr15:27496959..28924405 [GRCh37] Chr15:15q12-13.1 |
benign |
GRCh37/hg19 15q12-13.1(chr15:27963180-28705017)x3 |
copy number gain |
not provided [RCV000738696] |
Chr15:27963180..28705017 [GRCh37] Chr15:15q12-13.1 |
benign |
GRCh37/hg19 15q13.1(chr15:28239710-28535266)x3 |
copy number gain |
not provided [RCV000738697] |
Chr15:28239710..28535266 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q13.1(chr15:28425679-28445053)x3 |
copy number gain |
not provided [RCV000738700] |
Chr15:28425679..28445053 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q13.1(chr15:28427970-28445053)x3 |
copy number gain |
not provided [RCV000738701] |
Chr15:28427970..28445053 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q13.1(chr15:28427986-28445053)x3 |
copy number gain |
not provided [RCV000738702] |
Chr15:28427986..28445053 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q13.1(chr15:28428372-28445053)x3 |
copy number gain |
not provided [RCV000738703] |
Chr15:28428372..28445053 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q13.1(chr15:28552856-28910914)x3 |
copy number gain |
not provided [RCV000738704] |
Chr15:28552856..28910914 [GRCh37] Chr15:15q13.1 |
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 |
NM_004667.6(HERC2):c.5442G>T (p.Thr1814=) |
single nucleotide variant |
not provided [RCV000895761] |
Chr15:28228240 [GRCh38] Chr15:28473386 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.8826-10G>T |
single nucleotide variant |
not provided [RCV000896404] |
Chr15:28182522 [GRCh38] Chr15:28427668 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.13913+14C>T |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001703319] |
Chr15:28114598 [GRCh38] Chr15:28359744 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.4183A>G (p.Ile1395Val) |
single nucleotide variant |
not provided [RCV001564533] |
Chr15:28234105 [GRCh38] Chr15:28479251 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11381G>A (p.Arg3794Lys) |
single nucleotide variant |
not provided [RCV001546470] |
Chr15:28143910 [GRCh38] Chr15:28389056 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8318G>T (p.Ser2773Ile) |
single nucleotide variant |
not provided [RCV000761903] |
Chr15:28192094 [GRCh38] Chr15:28437240 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9961A>G (p.Ser3321Gly) |
single nucleotide variant |
not provided [RCV003239184] |
Chr15:28174491 [GRCh38] Chr15:28419637 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2455T>C (p.Trp819Arg) |
single nucleotide variant |
not provided [RCV003314835] |
Chr15:28257123 [GRCh38] Chr15:28502269 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8508C>T (p.Ile2836=) |
single nucleotide variant |
not provided [RCV003312299] |
Chr15:28191188 [GRCh38] Chr15:28436334 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.7398G>A (p.Met2466Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003268036] |
Chr15:28202429 [GRCh38] Chr15:28447575 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9283G>T (p.Ala3095Ser) |
single nucleotide variant |
not provided [RCV001546314]|not specified [RCV002246423] |
Chr15:28177099 [GRCh38] Chr15:28422245 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7680T>C (p.Asn2560=) |
single nucleotide variant |
not provided [RCV001665699] |
Chr15:28201492 [GRCh38] Chr15:28446638 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.5838T>C (p.Asp1946=) |
single nucleotide variant |
not provided [RCV000951129] |
Chr15:28220459 [GRCh38] Chr15:28465605 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.2812T>C (p.Leu938=) |
single nucleotide variant |
not provided [RCV000951130] |
Chr15:28255931 [GRCh38] Chr15:28501077 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9709T>C (p.Leu3237=) |
single nucleotide variant |
not provided [RCV000883789] |
Chr15:28175634 [GRCh38] Chr15:28420780 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.9111G>A (p.Arg3037=) |
single nucleotide variant |
not provided [RCV000883790] |
Chr15:28178939 [GRCh38] Chr15:28424085 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.3798G>A (p.Gln1266=) |
single nucleotide variant |
not provided [RCV000883791] |
Chr15:28238168 [GRCh38] Chr15:28483314 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.2253A>G (p.Glu751=) |
single nucleotide variant |
not provided [RCV000967346] |
Chr15:28260840 [GRCh38] Chr15:28505986 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.6558C>T (p.Ala2186=) |
single nucleotide variant |
not provided [RCV000907079] |
Chr15:28213970 [GRCh38] Chr15:28459116 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001331289]|not provided [RCV000964341] |
Chr15:28192083 [GRCh38] Chr15:28437229 [GRCh37] Chr15:15q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004667.6(HERC2):c.14118G>A (p.Glu4706=) |
single nucleotide variant |
not provided [RCV000971190] |
Chr15:28113185 [GRCh38] Chr15:28358331 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_004667.6(HERC2):c.8043C>T (p.Val2681=) |
single nucleotide variant |
not provided [RCV000905699] |
Chr15:28196538 [GRCh38] Chr15:28441684 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.12867C>T (p.Ile4289=) |
single nucleotide variant |
not provided [RCV000892414] |
Chr15:28125129 [GRCh38] Chr15:28370275 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10900+10C>T |
single nucleotide variant |
not provided [RCV000880165] |
Chr15:28152667 [GRCh38] Chr15:28397813 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.4318T>C (p.Leu1440=) |
single nucleotide variant |
not provided [RCV000880166] |
Chr15:28233697 [GRCh38] Chr15:28478843 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.12272T>C (p.Ile4091Thr) |
single nucleotide variant |
not provided [RCV000903968] |
Chr15:28132789 [GRCh38] Chr15:28377935 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.11895C>T (p.Leu3965=) |
single nucleotide variant |
not provided [RCV000899890] |
Chr15:28141552 [GRCh38] Chr15:28386698 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3888G>T (p.Gly1296=) |
single nucleotide variant |
not provided [RCV000880295] |
Chr15:28237078 [GRCh38] Chr15:28482224 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1704C>T (p.Ala568=) |
single nucleotide variant |
not provided [RCV000880299] |
Chr15:28265869 [GRCh38] Chr15:28511015 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.13048C>T (p.Leu4350=) |
single nucleotide variant |
not provided [RCV000948947] |
Chr15:28124177 [GRCh38] Chr15:28369323 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.4810-10C>T |
single nucleotide variant |
not provided [RCV000902993] |
Chr15:28229857 [GRCh38] Chr15:28475003 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.13566G>A (p.Pro4522=) |
single nucleotide variant |
not provided [RCV000903004] |
Chr15:28116708 [GRCh38] Chr15:28361854 [GRCh37] Chr15:15q13.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_004667.6(HERC2):c.14136C>T (p.Ser4712=) |
single nucleotide variant |
not provided [RCV000880501] |
Chr15:28113167 [GRCh38] Chr15:28358313 [GRCh37] Chr15:15q13.1 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) |
copy number loss |
Angelman syndrome [RCV000767840] |
Chr15:22816713..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767717] |
Chr15:20190548..30300265 [GRCh37] Chr15:15q11.1-13.2 |
pathogenic |
NM_004667.6(HERC2):c.13011C>A (p.His4337Gln) |
single nucleotide variant |
not provided [RCV001036476] |
Chr15:28124214 [GRCh38] Chr15:28369360 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13879C>T (p.Arg4627Cys) |
single nucleotide variant |
not provided [RCV001036477] |
Chr15:28114646 [GRCh38] Chr15:28359792 [GRCh37] Chr15:15q13.1 |
uncertain significance |
Single allele |
duplication |
15q11q13 microduplication syndrome [RCV000825026] |
Chr15:23810928..28544664 [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 15q11.2-13.1(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(chr15:23810397-28525505) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767754] |
Chr15:23810397..28525505 [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(chr15:22383299-32917689) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767722] |
Chr15:22383299..32917689 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) |
copy number loss |
Prader-Willi syndrome [RCV000767726] |
Chr15:23810184..28525505 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767841] |
Chr15:22816713..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
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(chr15:22770994-28517432) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767723] |
Chr15:22770994..28517432 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) |
copy number loss |
Angelman syndrome [RCV000767724] |
Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) |
copy number loss |
Angelman syndrome [RCV000767725] |
Chr15:23683783..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_004667.6(HERC2):c.12750A>G (p.Lys4250=) |
single nucleotide variant |
not provided [RCV000983704] |
Chr15:28130215 [GRCh38] Chr15:28375361 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3749-10T>C |
single nucleotide variant |
not provided [RCV000903101] |
Chr15:28238227 [GRCh38] Chr15:28483373 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9063T>C (p.Asn3021=) |
single nucleotide variant |
not provided [RCV000981192] |
Chr15:28178987 [GRCh38] Chr15:28424133 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.6009C>T (p.Ser2003=) |
single nucleotide variant |
not provided [RCV000881429] |
Chr15:28218508 [GRCh38] Chr15:28463654 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8187T>C (p.Phe2729=) |
single nucleotide variant |
not provided [RCV000909109] |
Chr15:28196288 [GRCh38] Chr15:28441434 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8826-6G>T |
single nucleotide variant |
not provided [RCV000896403] |
Chr15:28182518 [GRCh38] Chr15:28427664 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3828G>A (p.Ala1276=) |
single nucleotide variant |
not provided [RCV000895419] |
Chr15:28238138 [GRCh38] Chr15:28483284 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8898G>A (p.Leu2966=) |
single nucleotide variant |
not provided [RCV000967345] |
Chr15:28182440 [GRCh38] Chr15:28427586 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.12147G>A (p.Lys4049=) |
single nucleotide variant |
not provided [RCV000885652] |
Chr15:28135561 [GRCh38] Chr15:28380707 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_004667.6(HERC2):c.2334A>G (p.Ser778=) |
single nucleotide variant |
not provided [RCV000885746] |
Chr15:28257244 [GRCh38] Chr15:28502390 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9723T>C (p.Ser3241=) |
single nucleotide variant |
not provided [RCV000895558] |
Chr15:28175620 [GRCh38] Chr15:28420766 [GRCh37] Chr15:15q13.1 |
likely benign |
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767718] |
Chr15:20191652..28525310 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767753] |
Chr15:23810184..29213896 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_004667.6(HERC2):c.6262G>A (p.Glu2088Lys) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV000791148] |
Chr15:28214751 [GRCh38] Chr15:28459897 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6287T>C (p.Leu2096Pro) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV000791149] |
Chr15:28214726 [GRCh38] Chr15:28459872 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7707_7708dup (p.Asn2570fs) |
microsatellite |
Developmental delay with autism spectrum disorder and gait instability [RCV000791133] |
Chr15:28201463..28201464 [GRCh38] Chr15:28446609..28446610 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_004667.6(HERC2):c.5391C>T (p.His1797=) |
single nucleotide variant |
not provided [RCV000893443] |
Chr15:28228291 [GRCh38] Chr15:28473437 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
Single allele |
complex |
Esophageal atresia [RCV000986105] |
Chr15:22676913..30137106 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q13.1(chr15:28440688-28644578)x3 |
copy number gain |
not provided [RCV000845993] |
Chr15:28440688..28644578 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9638G>A (p.Gly3213Glu) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV000791197] |
Chr15:28176476 [GRCh38] Chr15:28421622 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 15q11.2-13.3(chr15:23213406-32446830)x1 |
copy number loss |
not provided [RCV001006665] |
Chr15:23213406..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_004667.6(HERC2):c.4126C>T (p.Arg1376Ter) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV000989279] |
Chr15:28234162 [GRCh38] Chr15:28479308 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_004667.6(HERC2):c.1770C>T (p.Asp590=) |
single nucleotide variant |
not provided [RCV000894569] |
Chr15:28265718 [GRCh38] Chr15:28510864 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.2916T>C (p.Asp972=) |
single nucleotide variant |
not provided [RCV000981193] |
Chr15:28254474 [GRCh38] Chr15:28499620 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.5911C>G (p.Leu1971Val) |
single nucleotide variant |
not provided [RCV003238935] |
Chr15:28218606 [GRCh38] Chr15:28463752 [GRCh37] Chr15:15q13.1 |
likely pathogenic|uncertain significance |
NM_004667.6(HERC2):c.10855C>T (p.Pro3619Ser) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001090174] |
Chr15:28152722 [GRCh38] Chr15:28397868 [GRCh37] Chr15:15q13.1 |
pathogenic|uncertain significance |
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 15q11.1-13.3(chr15:20179527-32998070)x3 |
copy number gain |
not provided [RCV000846014] |
Chr15:20179527..32998070 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
Single allele |
deletion |
Angelman syndrome [RCV001250750] |
Chr15:22833416..28566671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q13.1(chr15:28356997-28438862)x3 |
copy number gain |
not provided [RCV000846945] |
Chr15:28356997..28438862 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6379A>G (p.Arg2127Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002549905]|not provided [RCV000995283] |
Chr15:28214252 [GRCh38] Chr15:28459398 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4723G>A (p.Glu1575Lys) |
single nucleotide variant |
not provided [RCV000995284] |
Chr15:28230453 [GRCh38] Chr15:28475599 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1088T>G (p.Leu363Trp) |
single nucleotide variant |
not provided [RCV000995285] |
Chr15:28270864 [GRCh38] Chr15:28516010 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001331288]|Prader-Willi syndrome [RCV001196115] |
Chr15:28196569 [GRCh38] Chr15:28441715 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q12-13.2(chr15:27666103-30386553)x1 |
copy number loss |
not provided [RCV000845688] |
Chr15:27666103..30386553 [GRCh37] Chr15:15q12-13.2 |
uncertain significance |
NM_004667.6(HERC2):c.7372G>A (p.Ala2458Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003247643]|not provided [RCV003320931] |
Chr15:28202455 [GRCh38] Chr15:28447601 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5347G>A (p.Ala1783Thr) |
single nucleotide variant |
not provided [RCV003318212] |
Chr15:28228335 [GRCh38] Chr15:28473481 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1442C>T (p.Thr481Met) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV000989280]|not provided [RCV003392718] |
Chr15:28269252 [GRCh38] Chr15:28514398 [GRCh37] Chr15:15q13.1 |
likely pathogenic|uncertain significance |
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) |
single nucleotide variant |
Inborn genetic diseases [RCV002561055]|Prader-Willi syndrome [RCV001197669] |
Chr15:28228331 [GRCh38] Chr15:28473477 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4892C>T (p.Pro1631Leu) |
single nucleotide variant |
not provided [RCV001093229] |
Chr15:28229765 [GRCh38] Chr15:28474911 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5662C>T (p.Pro1888Ser) |
single nucleotide variant |
not provided [RCV003235971] |
Chr15:28220635 [GRCh38] Chr15:28465781 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11498C>T (p.Pro3833Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003291554] |
Chr15:28142873 [GRCh38] Chr15:28388019 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.14195C>T (p.Thr4732Ile) |
single nucleotide variant |
not provided [RCV001569757] |
Chr15:28113108 [GRCh38] Chr15:28358254 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3811C>T (p.Arg1271Trp) |
single nucleotide variant |
not provided [RCV003318016] |
Chr15:28238155 [GRCh38] Chr15:28483301 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5465-5A>G |
single nucleotide variant |
not specified [RCV003317866] |
Chr15:28222220 [GRCh38] Chr15:28467366 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11300-15C>G |
single nucleotide variant |
not specified [RCV003317867] |
Chr15:28144006 [GRCh38] Chr15:28389152 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9254+25T>C |
single nucleotide variant |
not provided [RCV001677286] |
Chr15:28177394 [GRCh38] Chr15:28422540 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.3660A>C (p.Lys1220Asn) |
single nucleotide variant |
not provided [RCV001588425] |
Chr15:28238690 [GRCh38] Chr15:28483836 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10194A>G (p.Ser3398=) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001702130]|not provided [RCV001610943] |
Chr15:28169519 [GRCh38] Chr15:28414665 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.10326G>A (p.Met3442Ile) |
single nucleotide variant |
not provided [RCV001654061] |
Chr15:28168494 [GRCh38] Chr15:28413640 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.13234C>G (p.Arg4412Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003246986]|not provided [RCV001561926] |
Chr15:28121384 [GRCh38] Chr15:28366530 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11944C>T (p.Leu3982Phe) |
single nucleotide variant |
not provided [RCV001557833] |
Chr15:28141503 [GRCh38] Chr15:28386649 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6926-15T>A |
single nucleotide variant |
not provided [RCV001614613] |
Chr15:28211160 [GRCh38] Chr15:28456306 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.9939C>T (p.Arg3313=) |
single nucleotide variant |
not provided [RCV001559538] |
Chr15:28174513 [GRCh38] Chr15:28419659 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.11967G>A (p.Gln3989=) |
single nucleotide variant |
not provided [RCV001594800] |
Chr15:28141480 [GRCh38] Chr15:28386626 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.12408+27G>A |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001703320] |
Chr15:28132626 [GRCh38] Chr15:28377772 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.2448C>T (p.Ser816=) |
single nucleotide variant |
not provided [RCV000962508] |
Chr15:28257130 [GRCh38] Chr15:28502276 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.11991C>G (p.Leu3997=) |
single nucleotide variant |
not provided [RCV000899906] |
Chr15:28141456 [GRCh38] Chr15:28386602 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.13305C>T (p.Ala4435=) |
single nucleotide variant |
not provided [RCV000907689] |
Chr15:28117122 [GRCh38] Chr15:28362268 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9726C>T (p.Asp3242=) |
single nucleotide variant |
not provided [RCV000908420] |
Chr15:28175617 [GRCh38] Chr15:28420763 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9358C>T (p.Leu3120=) |
single nucleotide variant |
not provided [RCV000909904] |
Chr15:28177024 [GRCh38] Chr15:28422170 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8097A>G (p.Val2699=) |
single nucleotide variant |
not provided [RCV000908483] |
Chr15:28196484 [GRCh38] Chr15:28441630 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001824904]|Prader-Willi syndrome [RCV002502677]|not provided [RCV000903154] |
Chr15:28248654 [GRCh38] Chr15:28493800 [GRCh37] Chr15:15q13.1 |
likely benign|not provided |
NM_004667.6(HERC2):c.6117A>G (p.Val2039=) |
single nucleotide variant |
not provided [RCV000885745] |
Chr15:28215714 [GRCh38] Chr15:28460860 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.4296C>T (p.Pro1432=) |
single nucleotide variant |
not provided [RCV000907690] |
Chr15:28233719 [GRCh38] Chr15:28478865 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.13707C>T (p.Ile4569=) |
single nucleotide variant |
not provided [RCV000908662] |
Chr15:28115444 [GRCh38] Chr15:28360590 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.643+5G>A |
single nucleotide variant |
not provided [RCV000881929] |
Chr15:28274900 [GRCh38] Chr15:28520046 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3196T>C (p.Tyr1066His) |
single nucleotide variant |
not provided [RCV000962354] |
Chr15:28248591 [GRCh38] Chr15:28493737 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.2463G>A (p.Pro821=) |
single nucleotide variant |
not provided [RCV000888399] |
Chr15:28257115 [GRCh38] Chr15:28502261 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3050+8G>T |
single nucleotide variant |
not provided [RCV000892690] |
Chr15:28254332 [GRCh38] Chr15:28499478 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.6150G>A (p.Thr2050=) |
single nucleotide variant |
not provided [RCV000880007] |
Chr15:28215681 [GRCh38] Chr15:28460827 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9180G>A (p.Thr3060=) |
single nucleotide variant |
not provided [RCV000886351] |
Chr15:28177493 [GRCh38] Chr15:28422639 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3987C>T (p.Val1329=) |
single nucleotide variant |
not provided [RCV000882466] |
Chr15:28236979 [GRCh38] Chr15:28482125 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9792C>T (p.Val3264=) |
single nucleotide variant |
not provided [RCV000888544] |
Chr15:28175551 [GRCh38] Chr15:28420697 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.726C>T (p.Asp242=) |
single nucleotide variant |
not provided [RCV000948948] |
Chr15:28274365 [GRCh38] Chr15:28519511 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.10431C>T (p.Asp3477=) |
single nucleotide variant |
not provided [RCV000965285] |
Chr15:28167810 [GRCh38] Chr15:28412956 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.5040C>G (p.Ser1680Arg) |
single nucleotide variant |
not provided [RCV000955488] |
Chr15:28229540 [GRCh38] Chr15:28474686 [GRCh37] Chr15:15q13.1 |
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 |
NM_004667.6(HERC2):c.1150G>A (p.Glu384Lys) |
single nucleotide variant |
not provided [RCV001093231] |
Chr15:28270802 [GRCh38] Chr15:28515948 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.406T>G (p.Ser136Ala) |
single nucleotide variant |
not provided [RCV001093232] |
Chr15:28280204 [GRCh38] Chr15:28525350 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe) |
single nucleotide variant |
Prader-Willi syndrome [RCV001197668]|not provided [RCV002267082] |
Chr15:28167817 [GRCh38] Chr15:28412963 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3903T>A (p.Pro1301=) |
single nucleotide variant |
not provided [RCV000890153] |
Chr15:28237063 [GRCh38] Chr15:28482209 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.12612C>T (p.Cys4204=) |
single nucleotide variant |
not provided [RCV000958203] |
Chr15:28130553 [GRCh38] Chr15:28375699 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.5782C>T (p.Leu1928=) |
single nucleotide variant |
not provided [RCV000889516] |
Chr15:28220515 [GRCh38] Chr15:28465661 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10692G>A (p.Arg3564=) |
single nucleotide variant |
not provided [RCV000890152] |
Chr15:28163148 [GRCh38] Chr15:28408294 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.1281T>C (p.Gly427=) |
single nucleotide variant |
not provided [RCV000890154] |
Chr15:28269413 [GRCh38] Chr15:28514559 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.12234G>A (p.Pro4078=) |
single nucleotide variant |
not provided [RCV000890823] |
Chr15:28132827 [GRCh38] Chr15:28377973 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9192C>T (p.Val3064=) |
single nucleotide variant |
not provided [RCV000957250] |
Chr15:28177481 [GRCh38] Chr15:28422627 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.7768_7772dup (p.Gly2592fs) |
duplication |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000991452] |
Chr15:28198713..28198714 [GRCh38] Chr15:28443859..28443860 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_004667.6(HERC2):c.8512G>A (p.Asp2838Asn) |
single nucleotide variant |
not provided [RCV003234512] |
Chr15:28191184 [GRCh38] Chr15:28436330 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7318G>A (p.Val2440Met) |
single nucleotide variant |
not provided [RCV002469500] |
Chr15:28202509 [GRCh38] Chr15:28447655 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3734_3745del (p.Gly1245_Leu1249delinsVal) |
deletion |
not provided [RCV001544740] |
Chr15:28238605..28238616 [GRCh38] Chr15:28483751..28483762 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9113A>G (p.Gln3038Arg) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV002471892] |
Chr15:28178937 [GRCh38] Chr15:28424083 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.599C>T (p.Ala200Val) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV002471893] |
Chr15:28274949 [GRCh38] Chr15:28520095 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q12-13.1(chr15:27932902-28545459)x3 |
copy number gain |
not provided [RCV002473883] |
Chr15:27932902..28545459 [GRCh37] Chr15:15q12-13.1 |
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 |
NM_004667.6(HERC2):c.5577A>T (p.Ser1859=) |
single nucleotide variant |
not provided [RCV001532248] |
Chr15:28222103 [GRCh38] Chr15:28467249 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.5448G>A (p.Thr1816=) |
single nucleotide variant |
not provided [RCV001532249] |
Chr15:28228234 [GRCh38] Chr15:28473380 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9175G>A (p.Ala3059Thr) |
single nucleotide variant |
not provided [RCV001596601] |
Chr15:28177498 [GRCh38] Chr15:28422644 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3631C>T (p.Arg1211Cys) |
single nucleotide variant |
not provided [RCV001587923] |
Chr15:28238719 [GRCh38] Chr15:28483865 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9903A>G (p.Thr3301=) |
single nucleotide variant |
not provided [RCV001673611] |
Chr15:28174549 [GRCh38] Chr15:28419695 [GRCh37] Chr15:15q13.1 |
benign |
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 |
NM_004667.6(HERC2):c.5546A>G (p.Lys1849Arg) |
single nucleotide variant |
not provided [RCV001585222] |
Chr15:28222134 [GRCh38] Chr15:28467280 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5580A>G (p.Gly1860=) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001702349] |
Chr15:28222100 [GRCh38] Chr15:28467246 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.2445T>C (p.Gly815=) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001703321] |
Chr15:28257133 [GRCh38] Chr15:28502279 [GRCh37] Chr15:15q13.1 |
benign |
NM_004667.6(HERC2):c.11981A>C (p.Glu3994Ala) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001614480] |
Chr15:28141466 [GRCh38] Chr15:28386612 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7886-9C>A |
single nucleotide variant |
not provided [RCV001540390] |
Chr15:28198512 [GRCh38] Chr15:28443658 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q12-13.1(chr15:27571956-28600013) |
copy number loss |
Developmental delay with autism spectrum disorder and gait instability [RCV001004084] |
Chr15:27571956..28600013 [GRCh37] Chr15:15q12-13.1 |
pathogenic |
NM_004667.6(HERC2):c.10075G>T (p.Asp3359Tyr) |
single nucleotide variant |
not provided [RCV001529109] |
Chr15:28169638 [GRCh38] Chr15:28414784 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9607A>C (p.Asn3203His) |
single nucleotide variant |
not provided [RCV001093228] |
Chr15:28176507 [GRCh38] Chr15:28421653 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4317G>T (p.Leu1439Phe) |
single nucleotide variant |
not provided [RCV001093230] |
Chr15:28233698 [GRCh38] Chr15:28478844 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met) |
single nucleotide variant |
Prader-Willi syndrome [RCV001196468] |
Chr15:28191016 [GRCh38] Chr15:28436162 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11701-1G>A |
single nucleotide variant |
Prader-Willi syndrome [RCV001198553] |
Chr15:28141847 [GRCh38] Chr15:28386993 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_004667.6(HERC2):c.922T>G (p.Ser308Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV001267265] |
Chr15:28272376 [GRCh38] Chr15:28517522 [GRCh37] Chr15:15q13.1 |
uncertain significance |
Single allele |
duplication |
15q11q13 microduplication syndrome [RCV002280354] |
Chr15:22810652..29822566 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
NM_004667.6(HERC2):c.13709_13710del (p.Ala4570fs) |
microsatellite |
Developmental delay with autism spectrum disorder and gait instability [RCV001262497] |
Chr15:28115441..28115442 [GRCh38] Chr15:28360587..28360588 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8820C>G (p.Ser2940Arg) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001334312]|not provided [RCV003132426] |
Chr15:28186582 [GRCh38] Chr15:28431728 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9909G>A (p.Val3303=) |
single nucleotide variant |
not provided [RCV001311383] |
Chr15:28174543 [GRCh38] Chr15:28419689 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.637C>T (p.Arg213Ter) |
single nucleotide variant |
not provided [RCV001311385] |
Chr15:28274911 [GRCh38] Chr15:28520057 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_004667.6(HERC2):c.13034C>T (p.Ala4345Val) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333284] |
Chr15:28124191 [GRCh38] Chr15:28369337 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9623G>A (p.Cys3208Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV001265665] |
Chr15:28176491 [GRCh38] Chr15:28421637 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10456C>G (p.Pro3486Ala) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001262213] |
Chr15:28167785 [GRCh38] Chr15:28412931 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7576G>A (p.Glu2526Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV001267264] |
Chr15:28202154 [GRCh38] Chr15:28447300 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 15q11.2-13.2(chr15:23285775-30386399) |
copy number loss |
Angelman syndrome [RCV002280759] |
Chr15:23285775..30386399 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
NM_004667.6(HERC2):c.9110G>A (p.Arg3037Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV001267517] |
Chr15:28178940 [GRCh38] Chr15:28424086 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12570+4T>A |
single nucleotide variant |
Inborn genetic diseases [RCV001267518] |
Chr15:28132096 [GRCh38] Chr15:28377242 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1 |
copy number loss |
not provided [RCV001537909] |
Chr15:23616095..28538904 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_004667.6(HERC2):c.6671T>C (p.Met2224Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV001265664] |
Chr15:28213857 [GRCh38] Chr15:28459003 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12002C>T (p.Thr4001Met) |
single nucleotide variant |
not provided [RCV002280577] |
Chr15:28141445 [GRCh38] Chr15:28386591 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13374C>G (p.Ser4458Arg) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001329945] |
Chr15:28117053 [GRCh38] Chr15:28362199 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6385C>T (p.Arg2129Cys) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001334308] |
Chr15:28214246 [GRCh38] Chr15:28459392 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4154G>A (p.Gly1385Glu) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333290] |
Chr15:28234134 [GRCh38] Chr15:28479280 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4342G>A (p.Glu1448Lys) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333291] |
Chr15:28233673 [GRCh38] Chr15:28478819 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4370T>C (p.Leu1457Ser) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001331284] |
Chr15:28233543 [GRCh38] Chr15:28478689 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8305C>T (p.Arg2769Cys) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001334310]|Inborn genetic diseases [RCV003339601] |
Chr15:28192107 [GRCh38] Chr15:28437253 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2766C>G (p.Asn922Lys) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333287]|Inborn genetic diseases [RCV002546622]|not provided [RCV001751652] |
Chr15:28255977 [GRCh38] Chr15:28501123 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4582C>T (p.Leu1528Phe) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333292]|not specified [RCV002265986] |
Chr15:28233239 [GRCh38] Chr15:28478385 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 |
NM_004667.6(HERC2):c.10340A>G (p.Asn3447Ser) |
single nucleotide variant |
not provided [RCV001787564] |
Chr15:28168480 [GRCh38] Chr15:28413626 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.254A>G (p.Glu85Gly) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333286]|Inborn genetic diseases [RCV003284211] |
Chr15:28292956 [GRCh38] Chr15:28538102 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5841C>G (p.Asp1947Glu) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333293] |
Chr15:28220456 [GRCh38] Chr15:28465602 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6555+3G>A |
single nucleotide variant |
not provided [RCV001311384] |
Chr15:28214073 [GRCh38] Chr15:28459219 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.12943G>A (p.Ala4315Thr) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333283] |
Chr15:28125053 [GRCh38] Chr15:28370199 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13861C>T (p.His4621Tyr) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001329946] |
Chr15:28114664 [GRCh38] Chr15:28359810 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2236C>T (p.Arg746Cys) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001329948]|not provided [RCV002291297] |
Chr15:28260857 [GRCh38] Chr15:28506003 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.698G>A (p.Arg233Gln) |
single nucleotide variant |
not provided [RCV002280054] |
Chr15:28274393 [GRCh38] Chr15:28519539 [GRCh37] Chr15:15q13.1 |
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 |
NM_004667.6(HERC2):c.8179G>C (p.Asp2727His) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001334309]|not provided [RCV001545114] |
Chr15:28196296 [GRCh38] Chr15:28441442 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8509G>A (p.Val2837Ile) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001334311] |
Chr15:28191187 [GRCh38] Chr15:28436333 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12599T>C (p.Val4200Ala) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001329944] |
Chr15:28130566 [GRCh38] Chr15:28375712 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.233A>G (p.Asp78Gly) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001329949]|not provided [RCV001751642] |
Chr15:28292977 [GRCh38] Chr15:28538123 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.14498G>A (p.Gly4833Glu) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001329947]|not provided [RCV001776200] |
Chr15:28111770 [GRCh38] Chr15:28356916 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3596A>G (p.Gln1199Arg) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001333289]|Inborn genetic diseases [RCV002546624] |
Chr15:28238754 [GRCh38] Chr15:28483900 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.10:g.22804175_30375696dup |
duplication |
15q11q13 microduplication syndrome [RCV001420629] |
Chr15:22804175..30375696 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
NM_004667.6(HERC2):c.10651G>T (p.Asp3551Tyr) |
single nucleotide variant |
not provided [RCV001539415] |
Chr15:28163189 [GRCh38] Chr15:28408335 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9992C>T (p.Thr3331Met) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001780442]|Inborn genetic diseases [RCV002540695]|not provided [RCV001755533] |
Chr15:28174460 [GRCh38] Chr15:28419606 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10993G>A (p.Val3665Ile) |
single nucleotide variant |
See cases [RCV002252581] |
Chr15:28146252 [GRCh38] Chr15:28391398 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8229C>G (p.Thr2743=) |
single nucleotide variant |
not provided [RCV001726937] |
Chr15:28196246 [GRCh38] Chr15:28441392 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3687C>T (p.Asp1229=) |
single nucleotide variant |
Prader-Willi syndrome [RCV002496050]|not provided [RCV001726939] |
Chr15:28238663 [GRCh38] Chr15:28483809 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.13036C>A (p.Leu4346Met) |
single nucleotide variant |
not provided [RCV001755491] |
Chr15:28124189 [GRCh38] Chr15:28369335 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5799T>A (p.Ala1933=) |
single nucleotide variant |
not provided [RCV001726938] |
Chr15:28220498 [GRCh38] Chr15:28465644 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.4648A>G (p.Ile1550Val) |
single nucleotide variant |
not provided [RCV001755465] |
Chr15:28233173 [GRCh38] Chr15:28478319 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7941C>A (p.Val2647=) |
single nucleotide variant |
not provided [RCV001755295] |
Chr15:28198448 [GRCh38] Chr15:28443594 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13544G>A (p.Arg4515Gln) |
single nucleotide variant |
not provided [RCV002272082] |
Chr15:28116730 [GRCh38] Chr15:28361876 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2743G>A (p.Ala915Thr) |
single nucleotide variant |
not provided [RCV001757317] |
Chr15:28256092 [GRCh38] Chr15:28501238 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3651C>A (p.Asn1217Lys) |
single nucleotide variant |
not provided [RCV001776852] |
Chr15:28238699 [GRCh38] Chr15:28483845 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9937C>G (p.Arg3313Gly) |
single nucleotide variant |
not provided [RCV001776866] |
Chr15:28174515 [GRCh38] Chr15:28419661 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6373C>T (p.Arg2125Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002541080]|not provided [RCV001776876] |
Chr15:28214258 [GRCh38] Chr15:28459404 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9832G>A (p.Val3278Met) |
single nucleotide variant |
not provided [RCV001776877] |
Chr15:28174620 [GRCh38] Chr15:28419766 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1426G>A (p.Ala476Thr) |
single nucleotide variant |
See cases [RCV002252582] |
Chr15:28269268 [GRCh38] Chr15:28514414 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5407G>A (p.Asp1803Asn) |
single nucleotide variant |
not provided [RCV001759007] |
Chr15:28228275 [GRCh38] Chr15:28473421 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3316G>C (p.Val1106Leu) |
single nucleotide variant |
not provided [RCV001776925] |
Chr15:28246817 [GRCh38] Chr15:28491963 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5392G>A (p.Gly1798Ser) |
single nucleotide variant |
not provided [RCV001769531] |
Chr15:28228290 [GRCh38] Chr15:28473436 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2462C>T (p.Pro821Leu) |
single nucleotide variant |
not provided [RCV001774956] |
Chr15:28257116 [GRCh38] Chr15:28502262 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7330C>T (p.Arg2444Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003163928]|not provided [RCV001787660] |
Chr15:28202497 [GRCh38] Chr15:28447643 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3986T>C (p.Val1329Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002541061]|not provided [RCV001776472] |
Chr15:28236980 [GRCh38] Chr15:28482126 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13702A>G (p.Thr4568Ala) |
single nucleotide variant |
not provided [RCV001768083] |
Chr15:28115449 [GRCh38] Chr15:28360595 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11962G>A (p.Val3988Met) |
single nucleotide variant |
not provided [RCV001768204] |
Chr15:28141485 [GRCh38] Chr15:28386631 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9179C>T (p.Thr3060Met) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV003147651]|not provided [RCV001753249] |
Chr15:28177494 [GRCh38] Chr15:28422640 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11541T>G (p.Phe3847Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002540688]|not provided [RCV001768336]|not specified [RCV002246480] |
Chr15:28142830 [GRCh38] Chr15:28387976 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8944G>T (p.Val2982Phe) |
single nucleotide variant |
not provided [RCV001768382] |
Chr15:28179217 [GRCh38] Chr15:28424363 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6628A>G (p.Ile2210Val) |
single nucleotide variant |
not provided [RCV001768394] |
Chr15:28213900 [GRCh38] Chr15:28459046 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10193_10194inv (p.Ser3398Leu) |
inversion |
not provided [RCV001774895] |
Chr15:28169519..28169520 [GRCh38] Chr15:28414665..28414666 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7727T>C (p.Met2576Thr) |
single nucleotide variant |
not provided [RCV001767925] |
Chr15:28198759 [GRCh38] Chr15:28443905 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2774C>T (p.Pro925Leu) |
single nucleotide variant |
not provided [RCV001776339] |
Chr15:28255969 [GRCh38] Chr15:28501115 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5620A>T (p.Met1874Leu) |
single nucleotide variant |
not provided [RCV001776494] |
Chr15:28222060 [GRCh38] Chr15:28467206 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.14422G>A (p.Asp4808Asn) |
single nucleotide variant |
not provided [RCV001776511] |
Chr15:28111846 [GRCh38] Chr15:28356992 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.14015C>T (p.Thr4672Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002540670]|not provided [RCV001769821] |
Chr15:28113577 [GRCh38] Chr15:28358723 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2024A>G (p.Asp675Gly) |
single nucleotide variant |
not provided [RCV001757578] |
Chr15:28263016 [GRCh38] Chr15:28508162 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3357G>A (p.Ala1119=) |
single nucleotide variant |
not provided [RCV001753038] |
Chr15:28246776 [GRCh38] Chr15:28491922 [GRCh37] Chr15:15q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004667.6(HERC2):c.6091C>T (p.Arg2031Trp) |
single nucleotide variant |
not provided [RCV001753240] |
Chr15:28215740 [GRCh38] Chr15:28460886 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7331G>A (p.Arg2444His) |
single nucleotide variant |
not provided [RCV001766238] |
Chr15:28202496 [GRCh38] Chr15:28447642 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13135G>A (p.Gly4379Arg) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001801256] |
Chr15:28124090 [GRCh38] Chr15:28369236 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5795C>T (p.Pro1932Leu) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001801257] |
Chr15:28220502 [GRCh38] Chr15:28465648 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7307C>T (p.Thr2436Met) |
single nucleotide variant |
not provided [RCV001757376] |
Chr15:28202520 [GRCh38] Chr15:28447666 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11914A>G (p.Lys3972Glu) |
single nucleotide variant |
not provided [RCV001757470] |
Chr15:28141533 [GRCh38] Chr15:28386679 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11267C>T (p.Ser3756Leu) |
single nucleotide variant |
not provided [RCV001776708] |
Chr15:28144109 [GRCh38] Chr15:28389255 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5678G>A (p.Arg1893His) |
single nucleotide variant |
not provided [RCV001757498] |
Chr15:28220619 [GRCh38] Chr15:28465765 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12282C>T (p.Val4094=) |
single nucleotide variant |
not provided [RCV001816148] |
Chr15:28132779 [GRCh38] Chr15:28377925 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9515-12T>A |
single nucleotide variant |
not provided [RCV001768353] |
Chr15:28176611 [GRCh38] Chr15:28421757 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9902_9903inv (p.Thr3301Met) |
inversion |
not provided [RCV001757748] |
Chr15:28174549..28174550 [GRCh38] Chr15:28419695..28419696 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8537C>T (p.Pro2846Leu) |
single nucleotide variant |
not provided [RCV001776899] |
Chr15:28191159 [GRCh38] Chr15:28436305 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.304G>C (p.Val102Leu) |
single nucleotide variant |
not provided [RCV001777052] |
Chr15:28292906 [GRCh38] Chr15:28538052 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.645C>T (p.Gly215=) |
single nucleotide variant |
not provided [RCV001777117] |
Chr15:28274446 [GRCh38] Chr15:28519592 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12914G>A (p.Arg4305His) |
single nucleotide variant |
not provided [RCV001759168] |
Chr15:28125082 [GRCh38] Chr15:28370228 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11973C>T (p.Ile3991=) |
single nucleotide variant |
not provided [RCV001815775] |
Chr15:28141474 [GRCh38] Chr15:28386620 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9831+7C>T |
single nucleotide variant |
not provided [RCV001816149] |
Chr15:28175505 [GRCh38] Chr15:28420651 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6615A>G (p.Ala2205=) |
single nucleotide variant |
not provided [RCV001816150] |
Chr15:28213913 [GRCh38] Chr15:28459059 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.6123C>T (p.Gly2041=) |
single nucleotide variant |
not provided [RCV001816151] |
Chr15:28215708 [GRCh38] Chr15:28460854 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.215A>C (p.Lys72Thr) |
single nucleotide variant |
not provided [RCV001816152] |
Chr15:28292995 [GRCh38] Chr15:28538141 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.187+153G>A |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001809140] |
Chr15:28299249 [GRCh38] Chr15:28544395 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q13.1-13.2(chr15:28394664-31122895)x1 |
copy number loss |
not provided [RCV001836487] |
Chr15:28394664..31122895 [GRCh37] Chr15:15q13.1-13.2 |
uncertain significance |
NM_004667.6(HERC2):c.6124G>A (p.Ala2042Thr) |
single nucleotide variant |
not provided [RCV001837136] |
Chr15:28215707 [GRCh38] Chr15:28460853 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1168C>T (p.Arg390Ter) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001839180] |
Chr15:28270784 [GRCh38] Chr15:28515930 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_004667.6(HERC2):c.13438G>A (p.Gly4480Ser) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV001839181] |
Chr15:28116836 [GRCh38] Chr15:28361982 [GRCh37] Chr15:15q13.1 |
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 |
NM_004667.6(HERC2):c.4661G>A (p.Arg1554Gln) |
single nucleotide variant |
not provided [RCV001837135] |
Chr15:28233160 [GRCh38] Chr15:28478306 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7480+4C>G |
single nucleotide variant |
not provided [RCV001843617] |
Chr15:28202343 [GRCh38] Chr15:28447489 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.410C>T (p.Ala137Val) |
single nucleotide variant |
not provided [RCV001843605] |
Chr15:28280200 [GRCh38] Chr15:28525346 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 |
NC_000015.9:g.(?_28090085)_(28544682_?)dup |
duplication |
not provided [RCV002015408] |
Chr15:28090085..28544682 [GRCh37] Chr15:15q12-13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12447C>T (p.Ala4149=) |
single nucleotide variant |
not provided [RCV002211289] |
Chr15:28132223 [GRCh38] Chr15:28377369 [GRCh37] Chr15:15q13.1 |
likely benign |
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 |
NM_004667.6(HERC2):c.11170G>A (p.Val3724Ile) |
single nucleotide variant |
not provided [RCV002222855] |
Chr15:28144206 [GRCh38] Chr15:28389352 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28267627)_(28391510_?)dup |
duplication |
not provided [RCV003109327] |
Chr15:28267627..28391510 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28475513)_(28475646_?)del |
deletion |
not provided [RCV003113567] |
Chr15:28475513..28475646 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28544548)_(28544662_?)dup |
duplication |
not provided [RCV003113568] |
Chr15:28544548..28544662 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_004667.6(HERC2):c.5453T>C (p.Leu1818Pro) |
single nucleotide variant |
not provided [RCV003131111] |
Chr15:28228229 [GRCh38] Chr15:28473375 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2655C>T (p.Ala885=) |
single nucleotide variant |
not provided [RCV003131112] |
Chr15:28256180 [GRCh38] Chr15:28501326 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3260C>T (p.Ser1087Phe) |
single nucleotide variant |
not provided [RCV003131113] |
Chr15:28246873 [GRCh38] Chr15:28492019 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4497C>A (p.Gly1499=) |
single nucleotide variant |
not provided [RCV003131115] |
Chr15:28233324 [GRCh38] Chr15:28478470 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12416C>T (p.Ala4139Val) |
single nucleotide variant |
not provided [RCV003131119] |
Chr15:28132254 [GRCh38] Chr15:28377400 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13570G>A (p.Ala4524Thr) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV003234236]|not provided [RCV003131123] |
Chr15:28116704 [GRCh38] Chr15:28361850 [GRCh37] Chr15:15q13.1 |
uncertain significance|not provided |
NM_004667.6(HERC2):c.545C>T (p.Ser182Phe) |
single nucleotide variant |
not provided [RCV003131124] |
Chr15:28275003 [GRCh38] Chr15:28520149 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3549T>G (p.His1183Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003093946]|not provided [RCV002244436] |
Chr15:28245909 [GRCh38] Chr15:28491055 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4352-1G>A |
single nucleotide variant |
See cases [RCV002252493] |
Chr15:28233562 [GRCh38] Chr15:28478708 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_004667.6(HERC2):c.1762A>G (p.Ser588Gly) |
single nucleotide variant |
See cases [RCV002253008] |
Chr15:28265726 [GRCh38] Chr15:28510872 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.612C>T (p.Ala204=) |
single nucleotide variant |
not provided [RCV003131116] |
Chr15:28274936 [GRCh38] Chr15:28520082 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12406C>A (p.Leu4136Met) |
single nucleotide variant |
not provided [RCV003154391] |
Chr15:28132655 [GRCh38] Chr15:28377801 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8751_8753del (p.Glu2918del) |
deletion |
not provided [RCV003234404] |
Chr15:28186649..28186651 [GRCh38] Chr15:28431795..28431797 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1570G>A (p.Gly524Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003254930] |
Chr15:28268493 [GRCh38] Chr15:28513639 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11218C>T (p.Arg3740Ter) |
single nucleotide variant |
not provided [RCV003229971] |
Chr15:28144158 [GRCh38] Chr15:28389304 [GRCh37] Chr15:15q13.1 |
likely 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 |
NM_004667.6(HERC2):c.13600C>T (p.Arg4534Cys) |
single nucleotide variant |
not provided [RCV002278869] |
Chr15:28116674 [GRCh38] Chr15:28361820 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2627C>T (p.Ala876Val) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV002272684] |
Chr15:28256208 [GRCh38] Chr15:28501354 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 |
NM_004667.6(HERC2):c.10937G>C (p.Cys3646Ser) |
single nucleotide variant |
not provided [RCV002275862] |
Chr15:28146308 [GRCh38] Chr15:28391454 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2359C>T (p.Arg787Cys) |
single nucleotide variant |
not provided [RCV002267319] |
Chr15:28257219 [GRCh38] Chr15:28502365 [GRCh37] Chr15:15q13.1 |
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_004667.6(HERC2):c.14336A>G (p.Glu4779Gly) |
single nucleotide variant |
not provided [RCV002274727] |
Chr15:28111932 [GRCh38] Chr15:28357078 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9431T>C (p.Met3144Thr) |
single nucleotide variant |
not provided [RCV002291397] |
Chr15:28176951 [GRCh38] Chr15:28422097 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8024A>G (p.Asn2675Ser) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV002290271] |
Chr15:28196557 [GRCh38] Chr15:28441703 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8937+4C>T |
single nucleotide variant |
not provided [RCV002262458] |
Chr15:28182397 [GRCh38] Chr15:28427543 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.7383C>T (p.Ile2461=) |
single nucleotide variant |
not provided [RCV002262459] |
Chr15:28202444 [GRCh38] Chr15:28447590 [GRCh37] Chr15:15q13.1 |
likely benign |
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 |
NM_004667.6(HERC2):c.9727G>A (p.Val3243Met) |
single nucleotide variant |
not provided [RCV002292158] |
Chr15:28175616 [GRCh38] Chr15:28420762 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10711G>T (p.Ala3571Ser) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV002272662] |
Chr15:28163129 [GRCh38] Chr15:28408275 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(28443916_28446601)_(28447761_28451385)dup |
duplication |
not specified [RCV003236538] |
Chr15:28446601..28447761 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(28538169_28544547)_(28544663_28566507)dup |
duplication |
Developmental delay with autism spectrum disorder and gait instability [RCV003236539] |
Chr15:28544547..28544663 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_004667.6(HERC2):c.13279C>T (p.Arg4427Ter) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV002266820] |
Chr15:28117148 [GRCh38] Chr15:28362294 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_004667.6(HERC2):c.4091G>A (p.Cys1364Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003096034]|not provided [RCV003154063]|not specified [RCV002266402] |
Chr15:28234197 [GRCh38] Chr15:28479343 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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_004667.6(HERC2):c.6722A>G (p.Lys2241Arg) |
single nucleotide variant |
not provided [RCV002291945] |
Chr15:28213806 [GRCh38] Chr15:28458952 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4611A>C (p.Leu1537Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003355851]|not provided [RCV002291961] |
Chr15:28233210 [GRCh38] Chr15:28478356 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.14106G>C (p.Gln4702His) |
single nucleotide variant |
not provided [RCV002292036] |
Chr15:28113197 [GRCh38] Chr15:28358343 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9885G>A (p.Thr3295=) |
single nucleotide variant |
not provided [RCV002262457] |
Chr15:28174567 [GRCh38] Chr15:28419713 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
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 |
NM_004667.6(HERC2):c.9074G>C (p.Gly3025Ala) |
single nucleotide variant |
not provided [RCV002293795] |
Chr15:28178976 [GRCh38] Chr15:28424122 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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 |
NM_004667.6(HERC2):c.13750A>C (p.Met4584Leu) |
single nucleotide variant |
not provided [RCV002274652] |
Chr15:28114775 [GRCh38] Chr15:28359921 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5395G>A (p.Ala1799Thr) |
single nucleotide variant |
not provided [RCV002283311] |
Chr15:28228287 [GRCh38] Chr15:28473433 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10874C>T (p.Ser3625Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003263023] |
Chr15:28152703 [GRCh38] Chr15:28397849 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13894C>T (p.Arg4632Trp) |
single nucleotide variant |
not provided [RCV003131114] |
Chr15:28114631 [GRCh38] Chr15:28359777 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6748C>T (p.Arg2250Trp) |
single nucleotide variant |
not provided [RCV003131117] |
Chr15:28213780 [GRCh38] Chr15:28458926 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8740C>T (p.Arg2914Cys) |
single nucleotide variant |
not provided [RCV003131120] |
Chr15:28186662 [GRCh38] Chr15:28431808 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12787_12791dup (p.Thr4265fs) |
duplication |
Developmental delay with autism spectrum disorder and gait instability [RCV003153178] |
Chr15:28130173..28130174 [GRCh38] Chr15:28375319..28375320 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_004667.6(HERC2):c.13072G>A (p.Glu4358Lys) |
single nucleotide variant |
not provided [RCV003152252] |
Chr15:28124153 [GRCh38] Chr15:28369299 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6365C>G (p.Thr2122Arg) |
single nucleotide variant |
not provided [RCV003154356] |
Chr15:28214266 [GRCh38] Chr15:28459412 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13531T>G (p.Ser4511Ala) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV003130936] |
Chr15:28116743 [GRCh38] Chr15:28361889 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3 |
copy number gain |
not provided [RCV002474488] |
Chr15:23615769..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1 |
copy number loss |
not provided [RCV002474513] |
Chr15:23615769..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q13.1-13.3(chr15:28540415-32446830)x1 |
copy number loss |
not provided [RCV002474549] |
Chr15:28540415..32446830 [GRCh37] Chr15:15q13.1-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1 |
copy number loss |
not provided [RCV002474564] |
Chr15:23290787..28560269 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 |
copy number gain |
not provided [RCV002474562] |
Chr15:22770422..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4 |
copy number gain |
not provided [RCV002473936] |
Chr15:22770422..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_004667.6(HERC2):c.8734C>T (p.Arg2912Trp) |
single nucleotide variant |
not provided [RCV003154110] |
Chr15:28186668 [GRCh38] Chr15:28431814 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5315C>T (p.Pro1772Leu) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV003148170] |
Chr15:28228367 [GRCh38] Chr15:28473513 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12937A>G (p.Thr4313Ala) |
single nucleotide variant |
not provided [RCV002308739] |
Chr15:28125059 [GRCh38] Chr15:28370205 [GRCh37] Chr15:15q13.1 |
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_004667.6(HERC2):c.3977T>C (p.Leu1326Pro) |
single nucleotide variant |
not provided [RCV002306425] |
Chr15:28236989 [GRCh38] Chr15:28482135 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5989C>G (p.Leu1997Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003102284]|not provided [RCV002306046] |
Chr15:28218528 [GRCh38] Chr15:28463674 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5647G>A (p.Asp1883Asn) |
single nucleotide variant |
not provided [RCV002300699] |
Chr15:28222033 [GRCh38] Chr15:28467179 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1954G>A (p.Glu652Lys) |
single nucleotide variant |
not provided [RCV002306136] |
Chr15:28263086 [GRCh38] Chr15:28508232 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13139C>G (p.Pro4380Arg) |
single nucleotide variant |
not provided [RCV002462382] |
Chr15:28124086 [GRCh38] Chr15:28369232 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8842G>T (p.Ala2948Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002571577]|not provided [RCV002510054] |
Chr15:28182496 [GRCh38] Chr15:28427642 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3964A>G (p.Met1322Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002752526]|not provided [RCV003443144] |
Chr15:28237002 [GRCh38] Chr15:28482148 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.14495C>T (p.Thr4832Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002776812] |
Chr15:28111773 [GRCh38] Chr15:28356919 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3509G>A (p.Arg1170Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002990800] |
Chr15:28245949 [GRCh38] Chr15:28491095 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5342C>T (p.Pro1781Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002774257] |
Chr15:28228340 [GRCh38] Chr15:28473486 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11998G>A (p.Val4000Met) |
single nucleotide variant |
not provided [RCV002461823] |
Chr15:28141449 [GRCh38] Chr15:28386595 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7366G>A (p.Val2456Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002571558]|not provided [RCV002508451] |
Chr15:28202461 [GRCh38] Chr15:28447607 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4681A>G (p.Lys1561Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002902631] |
Chr15:28230495 [GRCh38] Chr15:28475641 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12601A>C (p.Lys4201Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002902013] |
Chr15:28130564 [GRCh38] Chr15:28375710 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10768C>G (p.Leu3590Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002778923] |
Chr15:28152809 [GRCh38] Chr15:28397955 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.14395A>G (p.Ile4799Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002906449]|not provided [RCV003223770] |
Chr15:28111873 [GRCh38] Chr15:28357019 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_004667.6(HERC2):c.72+6G>C |
single nucleotide variant |
Inborn genetic diseases [RCV002683569] |
Chr15:28321356 [GRCh38] Chr15:28566502 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3308T>C (p.Ile1103Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002688861] |
Chr15:28246825 [GRCh38] Chr15:28491971 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2767A>G (p.Ile923Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002779943] |
Chr15:28255976 [GRCh38] Chr15:28501122 [GRCh37] Chr15:15q13.1 |
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 |
NM_004667.6(HERC2):c.926C>T (p.Ala309Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002749399] |
Chr15:28272372 [GRCh38] Chr15:28517518 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7637C>T (p.Thr2546Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002569419]|not provided [RCV002508737] |
Chr15:28201535 [GRCh38] Chr15:28446681 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4100C>T (p.Pro1367Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002905873] |
Chr15:28234188 [GRCh38] Chr15:28479334 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7771G>A (p.Val2591Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002841208] |
Chr15:28198715 [GRCh38] Chr15:28443861 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1 |
copy number loss |
not provided [RCV002511814] |
Chr15:23684645..28566612 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
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 |
NM_004667.6(HERC2):c.6670A>G (p.Met2224Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002754539] |
Chr15:28213858 [GRCh38] Chr15:28459004 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10460C>T (p.Ser3487Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002907071] |
Chr15:28167781 [GRCh38] Chr15:28412927 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3859C>G (p.Gln1287Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002772216] |
Chr15:28237107 [GRCh38] Chr15:28482253 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1135C>G (p.Leu379Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002753758] |
Chr15:28270817 [GRCh38] Chr15:28515963 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2797_2798del (p.Leu933fs) |
deletion |
not provided [RCV002907884] |
Chr15:28255945..28255946 [GRCh38] Chr15:28501091..28501092 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_004667.6(HERC2):c.3807C>A (p.Asp1269Glu) |
single nucleotide variant |
not provided [RCV002462560] |
Chr15:28238159 [GRCh38] Chr15:28483305 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2296A>G (p.Ile766Val) |
single nucleotide variant |
not provided [RCV002462729] |
Chr15:28260797 [GRCh38] Chr15:28505943 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6065G>A (p.Arg2022Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002969367] |
Chr15:28215766 [GRCh38] Chr15:28460912 [GRCh37] Chr15:15q13.1 |
uncertain significance |
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_004667.6(HERC2):c.5089C>G (p.Gln1697Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002977590] |
Chr15:28229491 [GRCh38] Chr15:28474637 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5683A>G (p.Ile1895Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002707652] |
Chr15:28220614 [GRCh38] Chr15:28465760 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.217A>C (p.Lys73Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002998418] |
Chr15:28292993 [GRCh38] Chr15:28538139 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4686G>C (p.Lys1562Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002849423] |
Chr15:28230490 [GRCh38] Chr15:28475636 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10999G>A (p.Val3667Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002869240] |
Chr15:28146246 [GRCh38] Chr15:28391392 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6866T>A (p.Leu2289His) |
single nucleotide variant |
Inborn genetic diseases [RCV002692409] |
Chr15:28212504 [GRCh38] Chr15:28457650 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11545-6C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002844189] |
Chr15:28142399 [GRCh38] Chr15:28387545 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6681G>C (p.Glu2227Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002821621] |
Chr15:28213847 [GRCh38] Chr15:28458993 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8036T>C (p.Ile2679Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002784111] |
Chr15:28196545 [GRCh38] Chr15:28441691 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2686G>A (p.Val896Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002759204] |
Chr15:28256149 [GRCh38] Chr15:28501295 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.596C>T (p.Ala199Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002797880] |
Chr15:28274952 [GRCh38] Chr15:28520098 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1015C>T (p.Pro339Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002926330]|not provided [RCV003395656] |
Chr15:28272283 [GRCh38] Chr15:28517429 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8506A>G (p.Ile2836Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002783973]|not provided [RCV003151926] |
Chr15:28191190 [GRCh38] Chr15:28436336 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10499C>T (p.Thr3500Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002884185] |
Chr15:28167742 [GRCh38] Chr15:28412888 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8035A>G (p.Ile2679Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003000499]|not provided [RCV003151924] |
Chr15:28196546 [GRCh38] Chr15:28441692 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_004667.6(HERC2):c.13883C>T (p.Ala4628Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002691442]|not provided [RCV003313307] |
Chr15:28114642 [GRCh38] Chr15:28359788 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3911A>G (p.Asp1304Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002844746] |
Chr15:28237055 [GRCh38] Chr15:28482201 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12431G>A (p.Arg4144His) |
single nucleotide variant |
Inborn genetic diseases [RCV002739348] |
Chr15:28132239 [GRCh38] Chr15:28377385 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12157G>T (p.Ala4053Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002911477] |
Chr15:28135551 [GRCh38] Chr15:28380697 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1078A>G (p.Met360Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002870519] |
Chr15:28272220 [GRCh38] Chr15:28517366 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4789A>C (p.Ile1597Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002693200] |
Chr15:28230387 [GRCh38] Chr15:28475533 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13157C>T (p.Thr4386Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002869714] |
Chr15:28124068 [GRCh38] Chr15:28369214 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.271A>T (p.Ile91Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002924547] |
Chr15:28292939 [GRCh38] Chr15:28538085 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7228G>A (p.Val2410Ile) |
single nucleotide variant |
not provided [RCV002509994] |
Chr15:28202599 [GRCh38] Chr15:28447745 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11737G>A (p.Glu3913Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002692171] |
Chr15:28141810 [GRCh38] Chr15:28386956 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5371A>G (p.Ser1791Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002737327] |
Chr15:28228311 [GRCh38] Chr15:28473457 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11716C>G (p.Arg3906Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002694372] |
Chr15:28141831 [GRCh38] Chr15:28386977 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6268G>T (p.Ala2090Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002712502] |
Chr15:28214745 [GRCh38] Chr15:28459891 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1252C>T (p.His418Tyr) |
single nucleotide variant |
not provided [RCV003059851] |
Chr15:28270700 [GRCh38] Chr15:28515846 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8416G>A (p.Glu2806Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002702004]|not provided [RCV003234228] |
Chr15:28191996 [GRCh38] Chr15:28437142 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13163G>A (p.Arg4388Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002830334] |
Chr15:28124062 [GRCh38] Chr15:28369208 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6855G>C (p.Gln2285His) |
single nucleotide variant |
Inborn genetic diseases [RCV002853970] |
Chr15:28212515 [GRCh38] Chr15:28457661 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.961G>T (p.Ala321Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002986495] |
Chr15:28272337 [GRCh38] Chr15:28517483 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7633G>A (p.Val2545Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002640941] |
Chr15:28201539 [GRCh38] Chr15:28446685 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2743G>C (p.Ala915Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002788537] |
Chr15:28256092 [GRCh38] Chr15:28501238 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8944G>C (p.Val2982Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003004219] |
Chr15:28179217 [GRCh38] Chr15:28424363 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5558C>T (p.Pro1853Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002787006] |
Chr15:28222122 [GRCh38] Chr15:28467268 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8793_8795del (p.Glu2934del) |
deletion |
Inborn genetic diseases [RCV002804330] |
Chr15:28186607..28186609 [GRCh38] Chr15:28431753..28431755 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8002G>T (p.Val2668Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002987121] |
Chr15:28198387 [GRCh38] Chr15:28443533 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12225C>G (p.Asn4075Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002930274] |
Chr15:28135483 [GRCh38] Chr15:28380629 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1826C>T (p.Ala609Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002849904] |
Chr15:28265662 [GRCh38] Chr15:28510808 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1591G>A (p.Asp531Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002641331] |
Chr15:28268472 [GRCh38] Chr15:28513618 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10628C>T (p.Ala3543Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002666513] |
Chr15:28163212 [GRCh38] Chr15:28408358 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6672G>A (p.Met2224Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002698496] |
Chr15:28213856 [GRCh38] Chr15:28459002 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12662+4C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002873674]|not provided [RCV003395647] |
Chr15:28130499 [GRCh38] Chr15:28375645 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_004667.6(HERC2):c.958G>A (p.Gly320Arg) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV003457208]|Inborn genetic diseases [RCV002744597] |
Chr15:28272340 [GRCh38] Chr15:28517486 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7397T>C (p.Met2466Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002956454] |
Chr15:28202430 [GRCh38] Chr15:28447576 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13695G>A (p.Met4565Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002743323] |
Chr15:28115456 [GRCh38] Chr15:28360602 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5367G>T (p.Met1789Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002664777] |
Chr15:28228315 [GRCh38] Chr15:28473461 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9448G>A (p.Gly3150Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002984254] |
Chr15:28176753 [GRCh38] Chr15:28421899 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7721G>C (p.Gly2574Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002892406] |
Chr15:28198765 [GRCh38] Chr15:28443911 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3757G>A (p.Ala1253Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002891608]|not provided [RCV003135250] |
Chr15:28238209 [GRCh38] Chr15:28483355 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10315G>A (p.Ala3439Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002981808] |
Chr15:28168505 [GRCh38] Chr15:28413651 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8361G>T (p.Lys2787Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002788272] |
Chr15:28192051 [GRCh38] Chr15:28437197 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3221C>T (p.Thr1074Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002644957] |
Chr15:28248566 [GRCh38] Chr15:28493712 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7742G>A (p.Arg2581Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002813335] |
Chr15:28198744 [GRCh38] Chr15:28443890 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3577+6G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002813506] |
Chr15:28245875 [GRCh38] Chr15:28491021 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1420A>G (p.Thr474Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002939665] |
Chr15:28269274 [GRCh38] Chr15:28514420 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6119G>C (p.Cys2040Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002965080] |
Chr15:28215712 [GRCh38] Chr15:28460858 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12223A>C (p.Asn4075His) |
single nucleotide variant |
Inborn genetic diseases [RCV002965210] |
Chr15:28135485 [GRCh38] Chr15:28380631 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.860A>T (p.His287Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002934178] |
Chr15:28272945 [GRCh38] Chr15:28518091 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.170A>C (p.Glu57Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002669865] |
Chr15:28299419 [GRCh38] Chr15:28544565 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11306G>C (p.Ser3769Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002648243] |
Chr15:28143985 [GRCh38] Chr15:28389131 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6451C>T (p.Arg2151Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002878659] |
Chr15:28214180 [GRCh38] Chr15:28459326 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.34G>T (p.Ala12Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002896995] |
Chr15:28321400 [GRCh38] Chr15:28566546 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13696A>G (p.Ser4566Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002809030] |
Chr15:28115455 [GRCh38] Chr15:28360601 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6377G>T (p.Arg2126Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002936888] |
Chr15:28214254 [GRCh38] Chr15:28459400 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.6116T>C (p.Val2039Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002670033] |
Chr15:28215715 [GRCh38] Chr15:28460861 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.562G>A (p.Gly188Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002702811] |
Chr15:28274986 [GRCh38] Chr15:28520132 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.50A>C (p.Lys17Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003011005] |
Chr15:28321384 [GRCh38] Chr15:28566530 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13711G>T (p.Asp4571Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002835759] |
Chr15:28115440 [GRCh38] Chr15:28360586 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.14020-4G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002702727] |
Chr15:28113287 [GRCh38] Chr15:28358433 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9037G>A (p.Val3013Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002768929] |
Chr15:28179013 [GRCh38] Chr15:28424159 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13007A>G (p.Asn4336Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002680160] |
Chr15:28124218 [GRCh38] Chr15:28369364 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5710A>G (p.Ile1904Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002655243]|not provided [RCV003319543] |
Chr15:28220587 [GRCh38] Chr15:28465733 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1627G>A (p.Ala543Thr) |
single nucleotide variant |
not provided [RCV003131121] |
Chr15:28265946 [GRCh38] Chr15:28511092 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13272+5C>T |
single nucleotide variant |
not provided [RCV003131122] |
Chr15:28121341 [GRCh38] Chr15:28366487 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7048G>C (p.Glu2350Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002677259] |
Chr15:28211023 [GRCh38] Chr15:28456169 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.188A>G (p.Asp63Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002722965] |
Chr15:28293022 [GRCh38] Chr15:28538168 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7126C>A (p.Pro2376Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002677727] |
Chr15:28206326 [GRCh38] Chr15:28451472 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.548G>T (p.Arg183Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002678147] |
Chr15:28275000 [GRCh38] Chr15:28520146 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7834C>G (p.Gln2612Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002945055] |
Chr15:28198652 [GRCh38] Chr15:28443798 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4427C>T (p.Ser1476Leu) |
single nucleotide variant |
not provided [RCV003154511] |
Chr15:28233486 [GRCh38] Chr15:28478632 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9633G>A (p.Glu3211=) |
single nucleotide variant |
not provided [RCV003393694] |
Chr15:28176481 [GRCh38] Chr15:28421627 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.7122G>A (p.Pro2374=) |
single nucleotide variant |
not provided [RCV003393702] |
Chr15:28206330 [GRCh38] Chr15:28451476 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.6549C>T (p.Ser2183=) |
single nucleotide variant |
not provided [RCV003393705] |
Chr15:28214082 [GRCh38] Chr15:28459228 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.6373C>A (p.Arg2125=) |
single nucleotide variant |
not provided [RCV003393707] |
Chr15:28214258 [GRCh38] Chr15:28459404 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3577+4C>T |
single nucleotide variant |
not provided [RCV003393712] |
Chr15:28245877 [GRCh38] Chr15:28491023 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1674C>T (p.Cys558=) |
single nucleotide variant |
not provided [RCV003393718] |
Chr15:28265899 [GRCh38] Chr15:28511045 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8963C>T (p.Thr2988Ile) |
single nucleotide variant |
not provided [RCV003223853] |
Chr15:28179198 [GRCh38] Chr15:28424344 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.992A>G (p.Gln331Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003218563] |
Chr15:28272306 [GRCh38] Chr15:28517452 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2102A>C (p.Lys701Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003218634] |
Chr15:28262938 [GRCh38] Chr15:28508084 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13919A>G (p.His4640Arg) |
single nucleotide variant |
not provided [RCV003222813] |
Chr15:28113673 [GRCh38] Chr15:28358819 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3638C>T (p.Ala1213Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003186211] |
Chr15:28238712 [GRCh38] Chr15:28483858 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6917C>G (p.Ala2306Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003286961] |
Chr15:28212453 [GRCh38] Chr15:28457599 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9682A>G (p.Thr3228Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003193513] |
Chr15:28176432 [GRCh38] Chr15:28421578 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12037G>A (p.Ala4013Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003197624] |
Chr15:28135671 [GRCh38] Chr15:28380817 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6424C>G (p.Leu2142Val) |
single nucleotide variant |
not provided [RCV003218872] |
Chr15:28214207 [GRCh38] Chr15:28459353 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7100G>A (p.Gly2367Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003217192] |
Chr15:28206352 [GRCh38] Chr15:28451498 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12568A>G (p.Lys4190Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003220284] |
Chr15:28132102 [GRCh38] Chr15:28377248 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4841C>A (p.Thr1614Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003219348] |
Chr15:28229816 [GRCh38] Chr15:28474962 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4111C>T (p.Pro1371Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003203329] |
Chr15:28234177 [GRCh38] Chr15:28479323 [GRCh37] Chr15:15q13.1 |
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_004667.6(HERC2):c.6992C>T (p.Ala2331Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003200151] |
Chr15:28211079 [GRCh38] Chr15:28456225 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9113A>T (p.Gln3038Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003184095] |
Chr15:28178937 [GRCh38] Chr15:28424083 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1402C>T (p.Arg468Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003259343] |
Chr15:28269292 [GRCh38] Chr15:28514438 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12014A>C (p.Lys4005Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003282800] |
Chr15:28141433 [GRCh38] Chr15:28386579 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10193C>T (p.Ser3398Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003207042] |
Chr15:28169520 [GRCh38] Chr15:28414666 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13907A>G (p.Asn4636Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003209786] |
Chr15:28114618 [GRCh38] Chr15:28359764 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1029G>T (p.Arg343Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003178227] |
Chr15:28272269 [GRCh38] Chr15:28517415 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13966G>A (p.Val4656Ile) |
single nucleotide variant |
not provided [RCV003135551] |
Chr15:28113626 [GRCh38] Chr15:28358772 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4590A>G (p.Ile1530Met) |
single nucleotide variant |
not provided [RCV003135553] |
Chr15:28233231 [GRCh38] Chr15:28478377 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.726C>G (p.Asp242Glu) |
single nucleotide variant |
not provided [RCV003135554] |
Chr15:28274365 [GRCh38] Chr15:28519511 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3705A>G (p.Ile1235Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003162197]|not provided [RCV003135555] |
Chr15:28238645 [GRCh38] Chr15:28483791 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10430A>G (p.Asp3477Gly) |
single nucleotide variant |
not provided [RCV003135556] |
Chr15:28167811 [GRCh38] Chr15:28412957 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4882G>C (p.Gly1628Arg) |
single nucleotide variant |
not provided [RCV003135557] |
Chr15:28229775 [GRCh38] Chr15:28474921 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9657G>A (p.Ala3219=) |
single nucleotide variant |
not provided [RCV003135558] |
Chr15:28176457 [GRCh38] Chr15:28421603 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2870A>G (p.Gln957Arg) |
single nucleotide variant |
not provided [RCV003135559] |
Chr15:28255873 [GRCh38] Chr15:28501019 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.517T>G (p.Ser173Ala) |
single nucleotide variant |
not provided [RCV003135560] |
Chr15:28280093 [GRCh38] Chr15:28525239 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8867C>T (p.Thr2956Met) |
single nucleotide variant |
not provided [RCV003135561] |
Chr15:28182471 [GRCh38] Chr15:28427617 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9824C>T (p.Ser3275Leu) |
single nucleotide variant |
not provided [RCV003135562] |
Chr15:28175519 [GRCh38] Chr15:28420665 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8451+8C>A |
single nucleotide variant |
not provided [RCV003135563] |
Chr15:28191953 [GRCh38] Chr15:28437099 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1577G>A (p.Arg526Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003209927] |
Chr15:28268486 [GRCh38] Chr15:28513632 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2465C>A (p.Pro822His) |
single nucleotide variant |
not provided [RCV003135550] |
Chr15:28257113 [GRCh38] Chr15:28502259 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4191C>A (p.Asp1397Glu) |
single nucleotide variant |
not provided [RCV003135552] |
Chr15:28234097 [GRCh38] Chr15:28479243 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5774A>G (p.Asp1925Gly) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV003142439] |
Chr15:28220523 [GRCh38] Chr15:28465669 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3136G>A (p.Glu1046Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003258384] |
Chr15:28248651 [GRCh38] Chr15:28493797 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10432G>A (p.Ala3478Thr) |
single nucleotide variant |
not provided [RCV003142572] |
Chr15:28167809 [GRCh38] Chr15:28412955 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3143C>A (p.Ser1048Tyr) |
single nucleotide variant |
not provided [RCV003142571] |
Chr15:28248644 [GRCh38] Chr15:28493790 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.548G>A (p.Arg183Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003190646] |
Chr15:28275000 [GRCh38] Chr15:28520146 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6514C>T (p.Arg2172Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003190653] |
Chr15:28214117 [GRCh38] Chr15:28459263 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7943A>C (p.Lys2648Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003193610] |
Chr15:28198446 [GRCh38] Chr15:28443592 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5879C>T (p.Thr1960Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003204248] |
Chr15:28218638 [GRCh38] Chr15:28463784 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.1175C>T (p.Thr392Met) |
single nucleotide variant |
not provided [RCV003319631] |
Chr15:28270777 [GRCh38] Chr15:28515923 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11603C>T (p.Thr3868Met) |
single nucleotide variant |
not provided [RCV003319824] |
Chr15:28142335 [GRCh38] Chr15:28387481 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2317-11T>G |
single nucleotide variant |
not provided [RCV003321387] |
Chr15:28257272 [GRCh38] Chr15:28502418 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.238G>A (p.Glu80Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003308476] |
Chr15:28292972 [GRCh38] Chr15:28538118 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.8284C>T (p.Arg2762Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003265932] |
Chr15:28192128 [GRCh38] Chr15:28437274 [GRCh37] Chr15:15q13.1 |
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_004667.6(HERC2):c.825C>T (p.Thr275=) |
single nucleotide variant |
not provided [RCV003326906] |
Chr15:28272980 [GRCh38] Chr15:28518126 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.825C>A (p.Thr275=) |
single nucleotide variant |
not provided [RCV003326907] |
Chr15:28272980 [GRCh38] Chr15:28518126 [GRCh37] Chr15:15q13.1 |
likely benign |
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_004667.6(HERC2):c.816G>A (p.Thr272=) |
single nucleotide variant |
not provided [RCV003326908] |
Chr15:28272989 [GRCh38] Chr15:28518135 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10229+5G>A |
single nucleotide variant |
not provided [RCV003328920] |
Chr15:28169479 [GRCh38] Chr15:28414625 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6900G>T (p.Lys2300Asn) |
single nucleotide variant |
not provided [RCV003328982] |
Chr15:28212470 [GRCh38] Chr15:28457616 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5884A>G (p.Met1962Val) |
single nucleotide variant |
not provided [RCV003329608] |
Chr15:28218633 [GRCh38] Chr15:28463779 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.2742C>T (p.Cys914=) |
single nucleotide variant |
not provided [RCV003326905] |
Chr15:28256093 [GRCh38] Chr15:28501239 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3205G>A (p.Glu1069Lys) |
single nucleotide variant |
not provided [RCV003328976] |
Chr15:28248582 [GRCh38] Chr15:28493728 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.9583A>G (p.Ile3195Val) |
single nucleotide variant |
not provided [RCV003387569] |
Chr15:28176531 [GRCh38] Chr15:28421677 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13705A>G (p.Ile4569Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003358972] |
Chr15:28115446 [GRCh38] Chr15:28360592 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12517G>A (p.Asp4173Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003378749] |
Chr15:28132153 [GRCh38] Chr15:28377299 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4903C>G (p.Leu1635Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003354310] |
Chr15:28229754 [GRCh38] Chr15:28474900 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.4577A>G (p.Asn1526Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003352651] |
Chr15:28233244 [GRCh38] Chr15:28478390 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3859C>A (p.Gln1287Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003351404] |
Chr15:28237107 [GRCh38] Chr15:28482253 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.12072G>A (p.Ser4024=) |
single nucleotide variant |
not provided [RCV003393678] |
Chr15:28135636 [GRCh38] Chr15:28380782 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.11835T>C (p.Thr3945=) |
single nucleotide variant |
not provided [RCV003393679] |
Chr15:28141612 [GRCh38] Chr15:28386758 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.11646T>C (p.Arg3882=) |
single nucleotide variant |
not provided [RCV003393680] |
Chr15:28142292 [GRCh38] Chr15:28387438 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.11238C>T (p.Asn3746=) |
single nucleotide variant |
not provided [RCV003393682] |
Chr15:28144138 [GRCh38] Chr15:28389284 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.11159C>G (p.Ser3720Cys) |
single nucleotide variant |
not provided [RCV003393683] |
Chr15:28144217 [GRCh38] Chr15:28389363 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11009-5C>T |
single nucleotide variant |
not provided [RCV003393684] |
Chr15:28144809 [GRCh38] Chr15:28389955 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10587G>A (p.Pro3529=) |
single nucleotide variant |
not provided [RCV003393687] |
Chr15:28163253 [GRCh38] Chr15:28408399 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8970A>G (p.Ser2990=) |
single nucleotide variant |
not provided [RCV003393696] |
Chr15:28179191 [GRCh38] Chr15:28424337 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8198A>T (p.Glu2733Val) |
single nucleotide variant |
not provided [RCV003393700] |
Chr15:28196277 [GRCh38] Chr15:28441423 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7164C>T (p.Ala2388=) |
single nucleotide variant |
not provided [RCV003393701] |
Chr15:28206288 [GRCh38] Chr15:28451434 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.4689A>G (p.Pro1563=) |
single nucleotide variant |
not provided [RCV003393711] |
Chr15:28230487 [GRCh38] Chr15:28475633 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.2487C>T (p.Ala829=) |
single nucleotide variant |
not provided [RCV003393715] |
Chr15:28257091 [GRCh38] Chr15:28502237 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1932C>T (p.Gly644=) |
single nucleotide variant |
not provided [RCV003393717] |
Chr15:28263108 [GRCh38] Chr15:28508254 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1074C>T (p.Gly358=) |
single nucleotide variant |
not provided [RCV003393723] |
Chr15:28272224 [GRCh38] Chr15:28517370 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1068C>T (p.Ser356=) |
single nucleotide variant |
not provided [RCV003393724] |
Chr15:28272230 [GRCh38] Chr15:28517376 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.11128A>C (p.Met3710Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003383102] |
Chr15:28144685 [GRCh38] Chr15:28389831 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.5825C>T (p.Ser1942Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003347515] |
Chr15:28220472 [GRCh38] Chr15:28465618 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3602G>A (p.Cys1201Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003367181] |
Chr15:28238748 [GRCh38] Chr15:28483894 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6729C>T (p.Thr2243=) |
single nucleotide variant |
not provided [RCV003456888] |
Chr15:28213799 [GRCh38] Chr15:28458945 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.7745C>T (p.Ala2582Val) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV003457217] |
Chr15:28198741 [GRCh38] Chr15:28443887 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.14167G>A (p.Val4723Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003348533] |
Chr15:28113136 [GRCh38] Chr15:28358282 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7516T>A (p.Ser2506Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003346981] |
Chr15:28202214 [GRCh38] Chr15:28447360 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.7568A>G (p.Tyr2523Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003349571] |
Chr15:28202162 [GRCh38] Chr15:28447308 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3948C>T (p.His1316=) |
single nucleotide variant |
not provided [RCV002211290] |
Chr15:28237018 [GRCh38] Chr15:28482164 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1185T>A (p.Val395=) |
single nucleotide variant |
not provided [RCV003393722] |
Chr15:28270767 [GRCh38] Chr15:28515913 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.323-6T>C |
single nucleotide variant |
not provided [RCV003393726] |
Chr15:28280293 [GRCh38] Chr15:28525439 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1782G>A (p.Pro594=) |
single nucleotide variant |
not provided [RCV003390472] |
Chr15:28265706 [GRCh38] Chr15:28510852 [GRCh37] Chr15:15q13.1 |
likely benign |
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 |
NM_004667.6(HERC2):c.5355C>G (p.Phe1785Leu) |
single nucleotide variant |
Developmental delay with autism spectrum disorder and gait instability [RCV003445317] |
Chr15:28228327 [GRCh38] Chr15:28473473 [GRCh37] Chr15:15q13.1 |
uncertain significance |
Single allele |
duplication |
not provided [RCV003448679] |
Chr15:22750407..32516333 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_004667.6(HERC2):c.10998C>T (p.Ser3666=) |
single nucleotide variant |
not provided [RCV003393685] |
Chr15:28146247 [GRCh38] Chr15:28391393 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9384C>T (p.Tyr3128=) |
single nucleotide variant |
not provided [RCV003393695] |
Chr15:28176998 [GRCh38] Chr15:28422144 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8298G>A (p.Gln2766=) |
single nucleotide variant |
not provided [RCV003393699] |
Chr15:28192114 [GRCh38] Chr15:28437260 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.6795C>T (p.Ala2265=) |
single nucleotide variant |
not provided [RCV003393703] |
Chr15:28212575 [GRCh38] Chr15:28457721 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.6540A>G (p.Gly2180=) |
single nucleotide variant |
not provided [RCV003393706] |
Chr15:28214091 [GRCh38] Chr15:28459237 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1205G>A (p.Arg402His) |
single nucleotide variant |
not provided [RCV003393721] |
Chr15:28270747 [GRCh38] Chr15:28515893 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.3757G>T (p.Ala1253Ser) |
single nucleotide variant |
not provided [RCV003442480] |
Chr15:28238209 [GRCh38] Chr15:28483355 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10395A>G (p.Pro3465=) |
single nucleotide variant |
not provided [RCV003393689] |
Chr15:28168425 [GRCh38] Chr15:28413571 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.6246A>G (p.Pro2082=) |
single nucleotide variant |
not provided [RCV003393708] |
Chr15:28214767 [GRCh38] Chr15:28459913 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.2048A>G (p.Lys683Arg) |
single nucleotide variant |
not provided [RCV003393716] |
Chr15:28262992 [GRCh38] Chr15:28508138 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.10295C>T (p.Ser3432Phe) |
single nucleotide variant |
not provided [RCV003443673] |
Chr15:28168525 [GRCh38] Chr15:28413671 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13766A>G (p.Asn4589Ser) |
single nucleotide variant |
not provided [RCV003443653] |
Chr15:28114759 [GRCh38] Chr15:28359905 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13229G>A (p.Arg4410His) |
single nucleotide variant |
not provided [RCV003393676] |
Chr15:28121389 [GRCh38] Chr15:28366535 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.11640C>G (p.Ala3880=) |
single nucleotide variant |
not provided [RCV003393681] |
Chr15:28142298 [GRCh38] Chr15:28387444 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.9858C>T (p.His3286=) |
single nucleotide variant |
not provided [RCV003393693] |
Chr15:28174594 [GRCh38] Chr15:28419740 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.5961C>T (p.Ser1987=) |
single nucleotide variant |
not provided [RCV003393710] |
Chr15:28218556 [GRCh38] Chr15:28463702 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1626C>T (p.Ser542=) |
single nucleotide variant |
not provided [RCV003393719] |
Chr15:28265947 [GRCh38] Chr15:28511093 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.1413C>T (p.Arg471=) |
single nucleotide variant |
not provided [RCV003393720] |
Chr15:28269281 [GRCh38] Chr15:28514427 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.987C>T (p.Ser329=) |
single nucleotide variant |
not provided [RCV003393725] |
Chr15:28272311 [GRCh38] Chr15:28517457 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3349C>T (p.His1117Tyr) |
single nucleotide variant |
not provided [RCV003443652] |
Chr15:28246784 [GRCh38] Chr15:28491930 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6110C>T (p.Pro2037Leu) |
single nucleotide variant |
HERC2-related condition [RCV003410754] |
Chr15:28215721 [GRCh38] Chr15:28460867 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.13638C>T (p.Thr4546=) |
single nucleotide variant |
not provided [RCV003390468] |
Chr15:28115513 [GRCh38] Chr15:28360659 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.13194G>A (p.Ala4398=) |
single nucleotide variant |
not provided [RCV003390469] |
Chr15:28121424 [GRCh38] Chr15:28366570 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10530A>G (p.Ala3510=) |
single nucleotide variant |
not provided [RCV003390470] |
Chr15:28167711 [GRCh38] Chr15:28412857 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.2919A>G (p.Glu973=) |
single nucleotide variant |
not provided [RCV003390471] |
Chr15:28254471 [GRCh38] Chr15:28499617 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.12378C>T (p.Ser4126=) |
single nucleotide variant |
not provided [RCV003393677] |
Chr15:28132683 [GRCh38] Chr15:28377829 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10968A>C (p.Thr3656=) |
single nucleotide variant |
not provided [RCV003393686] |
Chr15:28146277 [GRCh38] Chr15:28391423 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8338G>A (p.Asp2780Asn) |
single nucleotide variant |
not provided [RCV003393698] |
Chr15:28192074 [GRCh38] Chr15:28437220 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_004667.6(HERC2):c.6138G>T (p.Pro2046=) |
single nucleotide variant |
not provided [RCV003393709] |
Chr15:28215693 [GRCh38] Chr15:28460839 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.14058G>A (p.Lys4686=) |
single nucleotide variant |
not provided [RCV003393675] |
Chr15:28113245 [GRCh38] Chr15:28358391 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10458G>A (p.Pro3486=) |
single nucleotide variant |
not provided [RCV003393688] |
Chr15:28167783 [GRCh38] Chr15:28412929 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10242C>G (p.Val3414=) |
single nucleotide variant |
not provided [RCV003393690] |
Chr15:28168578 [GRCh38] Chr15:28413724 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10239T>A (p.Val3413=) |
single nucleotide variant |
not provided [RCV003393691] |
Chr15:28168581 [GRCh38] Chr15:28413727 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.10236T>C (p.Ala3412=) |
single nucleotide variant |
not provided [RCV003393692] |
Chr15:28168584 [GRCh38] Chr15:28413730 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.8868G>A (p.Thr2956=) |
single nucleotide variant |
not provided [RCV003393697] |
Chr15:28182470 [GRCh38] Chr15:28427616 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.6585C>T (p.Ser2195=) |
single nucleotide variant |
not provided [RCV003393704] |
Chr15:28213943 [GRCh38] Chr15:28459089 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.3390T>C (p.Thr1130=) |
single nucleotide variant |
not provided [RCV003393713] |
Chr15:28246743 [GRCh38] Chr15:28491889 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.2643C>T (p.Thr881=) |
single nucleotide variant |
not provided [RCV003393714] |
Chr15:28256192 [GRCh38] Chr15:28501338 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_004667.6(HERC2):c.7013A>G (p.Lys2338Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003379574] |
Chr15:28211058 [GRCh38] Chr15:28456204 [GRCh37] Chr15:15q13.1 |
uncertain significance |