Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | rheumatoid arthritis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:34529319 | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | rheumatoid arthritis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:34529319 | |
|
|
|
|
|
|
|
|
SNHG14 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||
Snhg14 (Mus musculus - house mouse) |
|
.
Variants in SNHG14
641 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_130839.5(UBE3A):c.20+7T>C | single nucleotide variant | not provided [RCV000728017] | Chr15:25409081 [GRCh38] Chr15:25654228 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1753+20del | deletion | not specified [RCV000603234] | Chr15:25360363 [GRCh38] Chr15:25605510 [GRCh37] Chr15:15q11.2 |
likely benign |
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(chr15:23319714-28446314)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(chr15:23328044-28300209)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 15q11.1-13.2(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 15q11.1-13.1(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(chr15:19879749-28918517)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 15q11.2-14(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 15q11.1-13.1(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 |
NM_000462.3(UBE3A):c.2365delG | deletion | Angelman syndrome [RCV001290256] | Chr15:25340227 [GRCh38] Chr15:25585374 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.827del (p.Arg276fs) | deletion | not provided [RCV000255998] | Chr15:25371347 [GRCh38] Chr15:25616494 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.916T>A (p.Phe306Ile) | single nucleotide variant | Angelman syndrome [RCV001303102] | Chr15:25371258 [GRCh38] Chr15:25616405 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.767C>A (p.Ala256Glu) | single nucleotide variant | not provided [RCV000756863] | Chr15:25371407 [GRCh38] Chr15:25616554 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.939A>G (p.Leu313=) | single nucleotide variant | Angelman syndrome [RCV002521812]|not specified [RCV000435239] | Chr15:25371235 [GRCh38] Chr15:25616382 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.696T>C (p.Asp232=) | single nucleotide variant | Angelman syndrome [RCV002063451]|not specified [RCV000435453] | Chr15:25371478 [GRCh38] Chr15:25616625 [GRCh37] Chr15:15q11.2 |
likely benign |
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 |
NM_003097.6(SNRPN):c.421-5C>T | single nucleotide variant | Autism spectrum disorder [RCV000333018] | Chr15:24977773 [GRCh38] Chr15:25222920 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NM_130839.5(UBE3A):c.2280+17C>T | single nucleotide variant | Angelman syndrome [RCV002061663]|not specified [RCV000429086] | Chr15:25354511 [GRCh38] Chr15:25599658 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1757T>G (p.Met586Arg) | single nucleotide variant | not specified [RCV000201268] | Chr15:25356893 [GRCh38] Chr15:25602040 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.119G>T (p.Gly40Val) | single nucleotide variant | Angelman syndrome [RCV000202457] | Chr15:25375707 [GRCh38] Chr15:25620854 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1423A>G (p.Met475Val) | single nucleotide variant | Autism [RCV000202490]|Inborn genetic diseases [RCV003258697] | Chr15:25370751 [GRCh38] Chr15:25615898 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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(chr15:23319714-28190742)x1 | copy number loss | See cases [RCV000052350] | Chr15:23319714..28190742 [GRCh38] Chr15:22669052..28435888 [GRCh37] Chr15:20220416..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(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(chr15:23375083-28197267)x1 | copy number loss | See cases [RCV000052374] | Chr15:23375083..28197267 [GRCh38] Chr15:23620230..28442413 [GRCh37] Chr15:21171671..26116008 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28272443)x1 | copy number loss | See cases [RCV000052376] | Chr15:23375083..28272443 [GRCh38] Chr15:23620230..28517589 [GRCh37] Chr15:21171671..26191184 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(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(chr15:23494211-28281294)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(chr15:23537429-28275167)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 |
NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter) | single nucleotide variant | Angelman syndrome [RCV000008431] | Chr15:25340219 [GRCh38] Chr15:25585366 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr) | single nucleotide variant | Angelman syndrome [RCV000008433] | Chr15:25371725 [GRCh38] Chr15:25616872 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=) | microsatellite | not provided [RCV000733227] | Chr15:25339120..25339129 [GRCh38] Chr15:25584267..25584276 [GRCh37] Chr15:15q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.1187_1188insAG (p.Pro397fs) | insertion | not provided [RCV003325360] | Chr15:25370986..25370987 [GRCh38] Chr15:25616133..25616134 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.-164-178_-164-177dup | duplication | not provided [RCV001567357] | Chr15:25412147..25412148 [GRCh38] Chr15:25657294..25657295 [GRCh37] Chr15:15q11.2 |
likely benign |
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(chr15:23328044-28713633)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 |
NM_022807.5(SNRPN):c.-636C>A | single nucleotide variant | Autism spectrum disorder [RCV000284271] | Chr15:24829848 [GRCh38] Chr15:25074995 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2049dup (p.Leu684fs) | duplication | not provided [RCV003224038] | Chr15:25355966..25355967 [GRCh38] Chr15:25601113..25601114 [GRCh37] Chr15:15q11.2 |
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_130839.5(UBE3A):c.1269C>T (p.Asp423=) | single nucleotide variant | Angelman syndrome [RCV000144339]|Inborn genetic diseases [RCV002316275]|not provided [RCV000714144]|not specified [RCV000082342] | Chr15:25370905 [GRCh38] Chr15:25616052 [GRCh37] Chr15:15q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.1305T>A (p.Asp435Glu) | single nucleotide variant | not provided [RCV000144768] | Chr15:25370869 [GRCh38] Chr15:25616016 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_022807.5(SNRPN):c.-579+5G>A | single nucleotide variant | Autism spectrum disorder [RCV000278133] | Chr15:24829910 [GRCh38] Chr15:25075057 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1565_1566del (p.Leu522fs) | deletion | Angelman syndrome [RCV000144277] | Chr15:25370608..25370609 [GRCh38] Chr15:25615755..25615756 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1668dup (p.Glu557Ter) | duplication | Angelman syndrome [RCV000144280] | Chr15:25360467..25360468 [GRCh38] Chr15:25605614..25605615 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1874_1884del (p.Ile625fs) | deletion | Angelman syndrome [RCV000144283] | Chr15:25356766..25356776 [GRCh38] Chr15:25601913..25601923 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2032del (p.Gln678fs) | deletion | Angelman syndrome [RCV000144288] | Chr15:25355984 [GRCh38] Chr15:25601131 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2404_2405del (p.Phe802fs) | deletion | Angelman syndrome [RCV000144298] | Chr15:25340178..25340179 [GRCh38] Chr15:25585325..25585326 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter) | single nucleotide variant | Angelman syndrome [RCV000144304] | Chr15:25339207 [GRCh38] Chr15:25584354 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1364T>C (p.Leu455Pro) | single nucleotide variant | Angelman syndrome [RCV000144319] | Chr15:25370810 [GRCh38] Chr15:25615957 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg) | single nucleotide variant | Angelman syndrome [RCV000144323]|not provided [RCV000483509] | Chr15:25371765 [GRCh38] Chr15:25616912 [GRCh37] Chr15:15q11.2 |
likely pathogenic|uncertain significance |
NM_130839.5(UBE3A):c.1686TGA[1] (p.Asp563del) | microsatellite | Angelman syndrome [RCV000144325] | Chr15:25360445..25360447 [GRCh38] Chr15:25605592..25605594 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2499-40C>T | single nucleotide variant | Angelman syndrome [RCV000144332] | Chr15:25339297 [GRCh38] Chr15:25584444 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1494G>A (p.Met498Ile) | single nucleotide variant | Angelman syndrome [RCV000144340] | Chr15:25370680 [GRCh38] Chr15:25615827 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2499-34del | deletion | Angelman syndrome [RCV000144358]|not provided [RCV003326357] | Chr15:25339291 [GRCh38] Chr15:25584438 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer) | microsatellite | Angelman syndrome [RCV000144543]|not provided [RCV001532245] | Chr15:25371799..25371802 [GRCh38] Chr15:25616946..25616949 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.422_423del (p.Glu141fs) | microsatellite | Angelman syndrome [RCV000144544] | Chr15:25371751..25371752 [GRCh38] Chr15:25616898..25616899 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.607del (p.Asp203fs) | deletion | Angelman syndrome [RCV000144546] | Chr15:25371567 [GRCh38] Chr15:25616714 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2125-2A>C | single nucleotide variant | Angelman syndrome [RCV000144553] | Chr15:25354685 [GRCh38] Chr15:25599832 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.695A>T (p.Asp232Val) | single nucleotide variant | Angelman syndrome [RCV000144555] | Chr15:25371479 [GRCh38] Chr15:25616626 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1433C>T (p.Pro478Leu) | single nucleotide variant | Angelman syndrome [RCV000144558] | Chr15:25370741 [GRCh38] Chr15:25615888 [GRCh37] Chr15:15q11.2 |
pathogenic |
GRCh38/hg38 15q11.2(chr15:24823779-24829799)x1 | copy number loss | See cases [RCV000133812] | Chr15:24823779..24829799 [GRCh38] Chr15:25068926..25074946 [GRCh37] Chr15:22620019..22626039 [NCBI36] Chr15:15q11.2 |
uncertain significance |
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 |
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) | single nucleotide variant | Angelman syndrome [RCV000144338]|not provided [RCV001711293]|not specified [RCV000126215] | Chr15:25370995 [GRCh38] Chr15:25616142 [GRCh37] Chr15:15q11.2 |
benign|likely benign|uncertain significance |
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 |
NM_130839.5(UBE3A):c.1150G>T (p.Glu384Ter) | single nucleotide variant | Angelman syndrome [RCV000147859] | Chr15:25371024 [GRCh38] Chr15:25616171 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.176G>A (p.Arg59His) | single nucleotide variant | Angelman syndrome [RCV001762327]|not provided [RCV003237745]|not specified [RCV000147863] | Chr15:25375650 [GRCh38] Chr15:25620797 [GRCh37] Chr15:15q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs) | microsatellite | Angelman syndrome [RCV000147864]|not provided [RCV003229812] | Chr15:25370766..25370767 [GRCh38] Chr15:25615913..25615914 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.328A>G (p.Met110Val) | single nucleotide variant | Angelman syndrome [RCV001850009]|not specified [RCV000147885] | Chr15:25375498 [GRCh38] Chr15:25620645 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter) | single nucleotide variant | Angelman syndrome [RCV000147892] | Chr15:25371150 [GRCh38] Chr15:25616297 [GRCh37] Chr15:15q11.2 |
pathogenic|likely pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 | copy number loss | See cases [RCV000148194] | Chr15:23319714..28446314 [GRCh38] Chr15:22698522..28691460 [GRCh37] Chr15:20249886..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2(chr15:25365789-25375524)x3 | copy number gain | See cases [RCV000137546] | Chr15:25365789..25375524 [GRCh38] Chr15:25610936..25620671 [GRCh37] Chr15:23162029..23171764 [NCBI36] Chr15:15q11.2 |
pathogenic|uncertain significance |
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(chr15:23422864-28314256)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_003097.6(SNRPN):c.-295+8C>G | single nucleotide variant | Autism spectrum disorder [RCV000308802] | Chr15:24962217 [GRCh38] Chr15:25207364 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28446301)x1 | copy number loss | See cases [RCV000138857] | Chr15:23462288..28446301 [GRCh38] Chr15:23707435..28691447 [GRCh37] Chr15:21258528..26365042 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2(chr15:25087994-25088727)x1 | copy number loss | See cases [RCV000139108] | Chr15:25087994..25088727 [GRCh38] Chr15:25333141..25333874 [GRCh37] Chr15:22884234..22884967 [NCBI36] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.859G>A (p.Val287Ile) | single nucleotide variant | Angelman syndrome [RCV000695593]|not provided [RCV000486907] | Chr15:25371315 [GRCh38] Chr15:25616462 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2504_2516dup (p.Cys840fs) | duplication | Intellectual disability [RCV000414808] | Chr15:25339239..25339240 [GRCh38] Chr15:25584386..25584387 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) | single nucleotide variant | Angelman syndrome [RCV000690582]|not provided [RCV000478539] | Chr15:25370598 [GRCh38] Chr15:25615745 [GRCh37] Chr15:15q11.2 |
pathogenic|likely pathogenic |
NM_130839.5(UBE3A):c.2272G>A (p.Gly758Arg) | single nucleotide variant | Global developmental delay [RCV000415459] | Chr15:25354536 [GRCh38] Chr15:25599683 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.46A>G (p.Ile16Val) | single nucleotide variant | not provided [RCV000498069] | Chr15:25405477 [GRCh38] Chr15:25650624 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) | single nucleotide variant | Angelman syndrome [RCV001078933]|Inborn genetic diseases [RCV002372091]|not provided [RCV000724495] | Chr15:25370836 [GRCh38] Chr15:25615983 [GRCh37] Chr15:15q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.659A>C (p.Asn220Thr) | single nucleotide variant | not specified [RCV000193288] | Chr15:25371515 [GRCh38] Chr15:25616662 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh38/hg38 15q11.2(chr15:24847127-24863718)x1 | copy number loss | See cases [RCV000050748] | Chr15:24847127..24863718 [GRCh38] Chr15:25092274..25108865 [GRCh37] Chr15:22643367..22659958 [NCBI36] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.1708_1710del (p.Glu570del) | deletion | not provided [RCV000483009] | Chr15:25360426..25360428 [GRCh38] Chr15:25605573..25605575 [GRCh37] Chr15:15q11.2 |
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 |
NM_130839.5(UBE3A):c.1546T>C (p.Leu516=) | single nucleotide variant | not provided [RCV001574679] | Chr15:25370628 [GRCh38] Chr15:25615775 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_003097.6(SNRPN):c.-143-6C>T | single nucleotide variant | Autism spectrum disorder [RCV000360813] | Chr15:24974305 [GRCh38] Chr15:25219452 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter) | single nucleotide variant | Angelman syndrome [RCV001044278]|not provided [RCV000514203] | Chr15:25370670 [GRCh38] Chr15:25615817 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1608+1G>A | single nucleotide variant | not provided [RCV000523350] | Chr15:25370565 [GRCh38] Chr15:25615712 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_003097.6(SNRPN):c.183T>C (p.Arg61=) | single nucleotide variant | Autism spectrum disorder [RCV000261541]|not provided [RCV000909620] | Chr15:24976332 [GRCh38] Chr15:25221479 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) | single nucleotide variant | Angelman syndrome [RCV002519088]|not provided [RCV000345041] | Chr15:25360408 [GRCh38] Chr15:25605555 [GRCh37] Chr15:15q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.720C>A (p.Tyr240Ter) | single nucleotide variant | not provided [RCV000353013] | Chr15:25371454 [GRCh38] Chr15:25616601 [GRCh37] Chr15:15q11.2 |
pathogenic |
GRCh38/hg38 15q11.2(chr15:24847126-24862220)x1 | copy number loss | See cases [RCV000053711] | Chr15:24847126..24862220 [GRCh38] Chr15:25092273..25107367 [GRCh37] Chr15:22643366..22658460 [NCBI36] Chr15:15q11.2 |
benign |
NM_003097.6(SNRPN):c.-380C>T | single nucleotide variant | Autism spectrum disorder [RCV000348503] | Chr15:24962124 [GRCh38] Chr15:25207271 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2226C>G (p.Pro742=) | single nucleotide variant | not specified [RCV000600897] | Chr15:25354582 [GRCh38] Chr15:25599729 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1609-8A>G | single nucleotide variant | Angelman syndrome [RCV001807382]|Inborn genetic diseases [RCV002402492]|not provided [RCV001092400] | Chr15:25360535 [GRCh38] Chr15:25605682 [GRCh37] Chr15:15q11.2 |
pathogenic|uncertain significance |
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) | single nucleotide variant | Angelman syndrome [RCV002062046]|Inborn genetic diseases [RCV002384298]|not provided [RCV000727010] | Chr15:25371385 [GRCh38] Chr15:25616532 [GRCh37] Chr15:15q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.2134A>C (p.Asn712His) | single nucleotide variant | not provided [RCV000592140] | Chr15:25354674 [GRCh38] Chr15:25599821 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NM_003097.6(SNRPN):c.-110T>G | single nucleotide variant | Autism spectrum disorder [RCV000268173] | Chr15:24974344 [GRCh38] Chr15:25219491 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg) | single nucleotide variant | Angelman syndrome [RCV000705836]|Inborn genetic diseases [RCV000623096]|not provided [RCV000658168] | Chr15:25356705 [GRCh38] Chr15:25601852 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.278A>C (p.Tyr93Ser) | single nucleotide variant | Angelman syndrome [RCV003139950]|Inborn genetic diseases [RCV000624060] | Chr15:25375548 [GRCh38] Chr15:25620695 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2281-20A>G | single nucleotide variant | Angelman syndrome [RCV001861564]|not specified [RCV000441494] | Chr15:25354446 [GRCh38] Chr15:25599593 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.1241_1247del (p.Arg414fs) | microsatellite | not provided [RCV000274964] | Chr15:25370927..25370933 [GRCh38] Chr15:25616074..25616080 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2124+8A>G | single nucleotide variant | Angelman syndrome [RCV001492847]|not specified [RCV000443958] | Chr15:25355884 [GRCh38] Chr15:25601031 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2469dup (p.Ile824fs) | duplication | not provided [RCV000350818] | Chr15:25340113..25340114 [GRCh38] Chr15:25585260..25585261 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1824G>A (p.Gln608=) | single nucleotide variant | Angelman syndrome [RCV002522546]|not specified [RCV000441849] | Chr15:25356826 [GRCh38] Chr15:25601973 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1609-11T>C | single nucleotide variant | Angelman syndrome [RCV002060550]|not provided [RCV000578506] | Chr15:25360538 [GRCh38] Chr15:25605685 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_022807.5(SNRPN):c.-841T>A | single nucleotide variant | Autism spectrum disorder [RCV000363698] | Chr15:24823696 [GRCh38] Chr15:25068843 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.442C>T (p.Arg148Cys) | single nucleotide variant | Angelman syndrome [RCV000233373] | Chr15:25371732 [GRCh38] Chr15:25616879 [GRCh37] Chr15:15q11.2 |
likely pathogenic|uncertain significance |
NM_130839.5(UBE3A):c.367A>G (p.Thr123Ala) | single nucleotide variant | Angelman syndrome [RCV002497270]|not provided [RCV000593852] | Chr15:25371807 [GRCh38] Chr15:25616954 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.376A>C (p.Thr126Pro) | single nucleotide variant | Angelman syndrome [RCV000008432] | Chr15:25371798 [GRCh38] Chr15:25616945 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.153_154dup (p.Ala52fs) | microsatellite | not provided [RCV000365094] | Chr15:25375671..25375672 [GRCh38] Chr15:25620818..25620819 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1138G>A (p.Val380Ile) | single nucleotide variant | Inborn genetic diseases [RCV002318584]|not provided [RCV000484075] | Chr15:25371036 [GRCh38] Chr15:25616183 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) | single nucleotide variant | Angelman syndrome [RCV001851141]|Inborn genetic diseases [RCV000623288]|not provided [RCV000761899] | Chr15:25340164 [GRCh38] Chr15:25585311 [GRCh37] Chr15:15q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.1032T>C (p.Ile344=) | single nucleotide variant | Angelman syndrome [RCV001496586]|Inborn genetic diseases [RCV002372090]|not provided [RCV000177397] | Chr15:25371142 [GRCh38] Chr15:25616289 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_003097.6(SNRPN):c.452C>T (p.Ala151Val) | single nucleotide variant | not provided [RCV000489587] | Chr15:24977809 [GRCh38] Chr15:25222956 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr) | single nucleotide variant | Angelman syndrome [RCV000417032]|not specified [RCV000201274] | Chr15:25371167 [GRCh38] Chr15:25616314 [GRCh37] Chr15:15q11.2 |
likely pathogenic|uncertain significance |
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=) | single nucleotide variant | Angelman syndrome [RCV001482967]|not specified [RCV000418616] | Chr15:25370902 [GRCh38] Chr15:25616049 [GRCh37] Chr15:15q11.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_130839.5(UBE3A):c.*4A>G | single nucleotide variant | Angelman syndrome [RCV003235377]|not provided [RCV000733008] | Chr15:25339133 [GRCh38] Chr15:25584280 [GRCh37] Chr15:15q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.654C>T (p.Asp218=) | single nucleotide variant | Angelman syndrome [RCV002522474]|not provided [RCV001721367] | Chr15:25371520 [GRCh38] Chr15:25616667 [GRCh37] Chr15:15q11.2 |
likely benign |
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 |
NM_130839.5(UBE3A):c.1599A>G (p.Ala533=) | single nucleotide variant | Angelman syndrome [RCV002060153]|not specified [RCV000499955] | Chr15:25370575 [GRCh38] Chr15:25615722 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.63-14_63-7del | deletion | Angelman syndrome [RCV001507051]|not provided [RCV000175966] | Chr15:25375770..25375777 [GRCh38] Chr15:25620917..25620924 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.457G>A (p.Val153Ile) | single nucleotide variant | Angelman syndrome [RCV001240887]|not specified [RCV000413266] | Chr15:25371717 [GRCh38] Chr15:25616864 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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(chr15:22358243-28481444)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 15q11.2-13.3(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(chr15:25056998-25073086)x1 | copy number loss | See cases [RCV000141816] | Chr15:25056998..25073086 [GRCh38] Chr15:25302145..25318233 [GRCh37] Chr15:22853238..22869326 [NCBI36] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr) | single nucleotide variant | Angelman syndrome [RCV000144550]|not provided [RCV000724262] | Chr15:25405461 [GRCh38] Chr15:25650608 [GRCh37] Chr15:15q11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
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 |
NM_003097.6(SNRPN):c.3+10A>G | single nucleotide variant | Autism spectrum disorder [RCV000372539]|not provided [RCV000951127] | Chr15:24974466 [GRCh38] Chr15:25219613 [GRCh37] Chr15:15q11.2 |
benign|uncertain significance |
NM_130839.5(UBE3A):c.1185A>T (p.Glu395Asp) | single nucleotide variant | not specified [RCV000194607] | Chr15:25370989 [GRCh38] Chr15:25616136 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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_130839.5(UBE3A):c.1621G>A (p.Ala541Thr) | single nucleotide variant | not provided [RCV000520155] | Chr15:25360515 [GRCh38] Chr15:25605662 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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(chr15:24888564-24931279)x1 | copy number loss | See cases [RCV000142721] | Chr15:24888564..24931279 [GRCh38] Chr15:25133711..25176426 [GRCh37] Chr15:22684804..22727519 [NCBI36] Chr15:15q11.2 |
uncertain significance |
GRCh38/hg38 15q11.2(chr15:25073275-25092331)x1 | copy number loss | See cases [RCV000142997] | Chr15:25073275..25092331 [GRCh38] Chr15:25318422..25337478 [GRCh37] Chr15:22869515..22888571 [NCBI36] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.936G>A (p.Lys312=) | single nucleotide variant | Angelman syndrome [RCV001507049]|not specified [RCV000503502] | Chr15:25371238 [GRCh38] Chr15:25616385 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
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 15q11.2-13.2(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 |
NC_000015.10:g.(?_25339117)_(25409127_?)del | deletion | Angelman syndrome [RCV000524767] | Chr15:25339117..25409127 [GRCh38] Chr15:25584264..25654274 [GRCh37] Chr15:15q11.2 |
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(chr15:23328044-28294829)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 15q11.2-12(chr15:24051424-27222420)x1 | copy number loss | See cases [RCV000143716] | Chr15:24051424..27222420 [GRCh38] Chr15:24296571..27467567 [GRCh37] Chr15:21847664..25050313 [NCBI36] Chr15:15q11.2-12 |
pathogenic |
NM_130839.5(UBE3A):c.810T>A (p.Tyr270Ter) | single nucleotide variant | Angelman syndrome [RCV000144264] | Chr15:25371364 [GRCh38] Chr15:25616511 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1127dup (p.Tyr376Ter) | duplication | Angelman syndrome [RCV000144267] | Chr15:25371046..25371047 [GRCh38] Chr15:25616193..25616194 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1136dup (p.Asn379fs) | duplication | Angelman syndrome [RCV000144268] | Chr15:25371037..25371038 [GRCh38] Chr15:25616184..25616185 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1174G>T (p.Glu392Ter) | single nucleotide variant | Angelman syndrome [RCV000144269] | Chr15:25371000 [GRCh38] Chr15:25616147 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1345G>T (p.Glu449Ter) | single nucleotide variant | Angelman syndrome [RCV000144272] | Chr15:25370829 [GRCh38] Chr15:25615976 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter) | single nucleotide variant | Angelman syndrome [RCV000144287]|not provided [RCV003318554] | Chr15:25355984 [GRCh38] Chr15:25601131 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2162_2163insTATT (p.Lys721fs) | insertion | Angelman syndrome [RCV000144289] | Chr15:25354645..25354646 [GRCh38] Chr15:25599792..25599793 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2237T>A (p.Leu746Ter) | single nucleotide variant | Angelman syndrome [RCV000144291] | Chr15:25354571 [GRCh38] Chr15:25599718 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs) | microsatellite | Angelman syndrome [RCV000144299]|not provided [RCV001092399] | Chr15:25340150..25340153 [GRCh38] Chr15:25585297..25585300 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2534T>A (p.Leu845Ter) | single nucleotide variant | Angelman syndrome [RCV000144301] | Chr15:25339222 [GRCh38] Chr15:25584369 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2538del (p.Pro847fs) | deletion | Angelman syndrome [RCV000144302] | Chr15:25339218 [GRCh38] Chr15:25584365 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer) | duplication | Angelman syndrome [RCV000144306]|not provided [RCV001778754] | Chr15:25339189..25339190 [GRCh38] Chr15:25584336..25584337 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) | deletion | Angelman syndrome [RCV000144307]|not provided [RCV001008094] | Chr15:25339188..25339189 [GRCh38] Chr15:25584335..25584336 [GRCh37] Chr15:15q11.2 |
pathogenic|likely pathogenic |
NM_130839.5(UBE3A):c.2027C>T (p.Thr676Ile) | single nucleotide variant | Angelman syndrome [RCV000144312] | Chr15:25355989 [GRCh38] Chr15:25601136 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.869A>C (p.Asn290Thr) | single nucleotide variant | Angelman syndrome [RCV000144324] | Chr15:25371305 [GRCh38] Chr15:25616452 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1822C>G (p.Gln608Glu) | single nucleotide variant | Angelman syndrome [RCV000144343] | Chr15:25356828 [GRCh38] Chr15:25601975 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2078T>G (p.Leu693Arg) | single nucleotide variant | Angelman syndrome [RCV000144345] | Chr15:25355938 [GRCh38] Chr15:25601085 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.63-19_63-17del | deletion | Angelman syndrome [RCV000144347] | Chr15:25375780..25375782 [GRCh38] Chr15:25620927..25620929 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.915A>G (p.Leu305=) | single nucleotide variant | Angelman syndrome [RCV000144352] | Chr15:25371259 [GRCh38] Chr15:25616406 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.159del (p.Cys54fs) | deletion | Angelman syndrome [RCV000144538] | Chr15:25375667 [GRCh38] Chr15:25620814 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.259_262dup (p.Gly88fs) | duplication | Angelman syndrome [RCV000144539] | Chr15:25375563..25375564 [GRCh38] Chr15:25620710..25620711 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.335dup (p.Lys113fs) | duplication | Angelman syndrome [RCV000144541] | Chr15:25375490..25375491 [GRCh38] Chr15:25620637..25620638 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.463dup (p.Ser155fs) | duplication | Angelman syndrome [RCV000144545]|not provided [RCV002286703] | Chr15:25371710..25371711 [GRCh38] Chr15:25616857..25616858 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1754-2A>G | single nucleotide variant | Angelman syndrome [RCV000144552] | Chr15:25356898 [GRCh38] Chr15:25602045 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2618A>T (p.Ter873Leu) | single nucleotide variant | Angelman syndrome [RCV000144554] | Chr15:25339138 [GRCh38] Chr15:25584285 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro) | single nucleotide variant | Angelman syndrome [RCV000144556] | Chr15:25371404 [GRCh38] Chr15:25616551 [GRCh37] Chr15:15q11.2 |
pathogenic|uncertain significance |
NM_130839.5(UBE3A):c.848T>G (p.Leu283Trp) | single nucleotide variant | Angelman syndrome [RCV000144557] | Chr15:25371326 [GRCh38] Chr15:25616473 [GRCh37] Chr15:15q11.2 |
pathogenic |
GRCh38/hg38 15q11.2(chr15:24818426-24920098)x3 | copy number gain | See cases [RCV000134149] | Chr15:24818426..24920098 [GRCh38] Chr15:25063573..25165245 [GRCh37] Chr15:22614666..22716338 [NCBI36] Chr15:15q11.2 |
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 |
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs) | deletion | Angelman syndrome [RCV000147886]|not provided [RCV000414628] | Chr15:25371793..25371797 [GRCh38] Chr15:25616940..25616944 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1627G>T (p.Glu543Ter) | single nucleotide variant | Angelman syndrome [RCV000147866] | Chr15:25360509 [GRCh38] Chr15:25605656 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1748A>G (p.Asp583Gly) | single nucleotide variant | Angelman syndrome [RCV000147870] | Chr15:25360388 [GRCh38] Chr15:25605535 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1786_1790del (p.Phe596fs) | deletion | Angelman syndrome [RCV000147872] | Chr15:25356860..25356864 [GRCh38] Chr15:25602007..25602011 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs) | deletion | Angelman syndrome [RCV000147874]|not provided [RCV001009253] | Chr15:25356813..25356816 [GRCh38] Chr15:25601960..25601963 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=) | single nucleotide variant | Angelman syndrome [RCV000147876]|Inborn genetic diseases [RCV002408652] | Chr15:25356769 [GRCh38] Chr15:25601916 [GRCh37] Chr15:15q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp) | single nucleotide variant | Angelman syndrome [RCV001850008]|not specified [RCV000147877] | Chr15:25355930 [GRCh38] Chr15:25601077 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
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 |
NM_130839.5(UBE3A):c.981A>G (p.Lys327=) | single nucleotide variant | Angelman syndrome [RCV000532075] | Chr15:25371193 [GRCh38] Chr15:25616340 [GRCh37] Chr15:15q11.2 |
likely benign |
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 |
NM_003097.6(SNRPN):c.524C>T (p.Pro175Leu) | single nucleotide variant | Autism spectrum disorder [RCV000389708] | Chr15:24977881 [GRCh38] Chr15:25223028 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1237G>T (p.Glu413Ter) | single nucleotide variant | not provided [RCV000294573] | Chr15:25370937 [GRCh38] Chr15:25616084 [GRCh37] Chr15:15q11.2 |
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(chr15:23411789-28280314)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 |
NM_022807.5(SNRPN):c.-504-12T>C | single nucleotide variant | Autism spectrum disorder [RCV000395911] | Chr15:24919999 [GRCh38] Chr15:25165146 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 15q11.2(chr15:24341879-24958682)x3 | copy number gain | See cases [RCV000137324] | Chr15:24341879..24958682 [GRCh38] Chr15:24587026..25203829 [GRCh37] Chr15:22138119..22754922 [NCBI36] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.948_950del (p.Ala317del) | deletion | not provided [RCV000082352] | Chr15:25371224..25371226 [GRCh38] Chr15:25616371..25616373 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NR_003296.1(SNORD115-4):n.-1001_8265del | deletion | Normal pregnancy [RCV000161763] | Chr15:25175831..25185096 [GRCh38] Chr15:25420978..25430243 [GRCh37] Chr15:15q11.2 |
not provided |
GRCh38/hg38 15q11.2(chr15:24897997-25103626)x3 | copy number gain | See cases [RCV000138077] | Chr15:24897997..25103626 [GRCh38] Chr15:25143144..25348773 [GRCh37] Chr15:22694237..22899866 [NCBI36] Chr15:15q11.2 |
uncertain significance |
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 |
NM_003097.6(SNRPN):c.-262A>T | single nucleotide variant | Autism spectrum disorder [RCV000308382] | Chr15:24967964 [GRCh38] Chr15:25213111 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh38/hg38 15q11.2(chr15:24823754-24837359)x1 | copy number loss | See cases [RCV000138511] | Chr15:24823754..24837359 [GRCh38] Chr15:25068901..25082506 [GRCh37] Chr15:22619994..22633599 [NCBI36] Chr15:15q11.2 |
benign|likely benign|conflicting data from submitters |
GRCh38/hg38 15q11.2(chr15:25334870-25351819)x3 | copy number gain | See cases [RCV000138793] | Chr15:25334870..25351819 [GRCh38] Chr15:25580017..25596966 [GRCh37] Chr15:23131110..23148059 [NCBI36] Chr15:15q11.2 |
pathogenic |
GRCh38/hg38 15q11.2(chr15:24833260-24869217)x1 | copy number loss | See cases [RCV000138856] | Chr15:24833260..24869217 [GRCh38] Chr15:25078407..25114364 [GRCh37] Chr15:22629500..22665457 [NCBI36] Chr15:15q11.2 |
benign |
GRCh38/hg38 15q11.2(chr15:25087994-25088727)x3 | copy number gain | See cases [RCV000139106] | Chr15:25087994..25088727 [GRCh38] Chr15:25333141..25333874 [GRCh37] Chr15:22884234..22884967 [NCBI36] Chr15:15q11.2 |
likely benign |
GRCh38/hg38 15q11.2(chr15:24818426-25001476)x3 | copy number gain | See cases [RCV000139202] | Chr15:24818426..25001476 [GRCh38] Chr15:25063573..25246623 [GRCh37] Chr15:22614666..22797716 [NCBI36] Chr15:15q11.2 |
likely benign |
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 15q11.1-13.1(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 |
NM_003097.6(SNRPN):c.-280C>T | single nucleotide variant | Autism spectrum disorder [RCV000366467] | Chr15:24967946 [GRCh38] Chr15:25213093 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NM_130839.5(UBE3A):c.1335G>A (p.Glu445=) | single nucleotide variant | not specified [RCV000601938] | Chr15:25370839 [GRCh38] Chr15:25615986 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2125-1G>A | single nucleotide variant | Angelman syndrome [RCV001507065]|not provided [RCV000486030] | Chr15:25354684 [GRCh38] Chr15:25599831 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
GRCh38/hg38 15q11.2(chr15:24873776-24921819)x1 | copy number loss | See cases [RCV000051582] | Chr15:24873776..24921819 [GRCh38] Chr15:25118923..25166966 [GRCh37] Chr15:22670016..22718059 [NCBI36] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2504C>G (p.Pro835Arg) | single nucleotide variant | not specified [RCV000201273] | Chr15:25339252 [GRCh38] Chr15:25584399 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.744A>G (p.Lys248=) | single nucleotide variant | not provided [RCV001712283] | Chr15:25371430 [GRCh38] Chr15:25616577 [GRCh37] Chr15:15q11.2 |
likely benign |
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 |
NM_130839.5(UBE3A):c.1244_1253dup (p.Gly419fs) | duplication | Angelman syndrome [RCV000509135]|not provided [RCV000386255] | Chr15:25370920..25370921 [GRCh38] Chr15:25616067..25616068 [GRCh37] Chr15:15q11.2 |
pathogenic|not provided |
NM_130839.5(UBE3A):c.1521C>T (p.Leu507=) | single nucleotide variant | Angelman syndrome [RCV001500918]|not specified [RCV000433687] | Chr15:25370653 [GRCh38] Chr15:25615800 [GRCh37] Chr15:15q11.2 |
likely benign |
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 |
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) | single nucleotide variant | Angelman syndrome [RCV000144348]|Inborn genetic diseases [RCV002311730]|not specified [RCV000082349] | Chr15:25371801 [GRCh38] Chr15:25616948 [GRCh37] Chr15:15q11.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.2355G>A (p.Arg785=) | single nucleotide variant | Angelman syndrome [RCV002515943]|not provided [RCV000144769] | Chr15:25340228 [GRCh38] Chr15:25585375 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1606C>T (p.Arg536Trp) | single nucleotide variant | not provided [RCV000518889] | Chr15:25370568 [GRCh38] Chr15:25615715 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.806C>T (p.Thr269Met) | single nucleotide variant | not provided [RCV000519760] | Chr15:25371368 [GRCh38] Chr15:25616515 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NM_130839.5(UBE3A):c.2402T>A (p.Leu801His) | single nucleotide variant | Angelman syndrome [RCV001861497]|not provided [RCV000439201] | Chr15:25340181 [GRCh38] Chr15:25585328 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) | single nucleotide variant | Angelman syndrome [RCV000144329]|not provided [RCV000995272] | Chr15:25340168 [GRCh38] Chr15:25585315 [GRCh37] Chr15:15q11.2 |
benign|likely benign|uncertain significance |
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter) | single nucleotide variant | Angelman syndrome [RCV000144270]|Inborn genetic diseases [RCV000623493]|not provided [RCV003313042] | Chr15:25370913 [GRCh38] Chr15:25616060 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1415dup (p.Ser473fs) | duplication | Angelman syndrome [RCV000144273] | Chr15:25370758..25370759 [GRCh38] Chr15:25615905..25615906 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2016_2023del (p.Met673fs) | deletion | Angelman syndrome [RCV000144285] | Chr15:25355993..25356000 [GRCh38] Chr15:25601140..25601147 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2305del (p.Glu769fs) | deletion | Angelman syndrome [RCV000144295] | Chr15:25354402 [GRCh38] Chr15:25599549 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2523_2581dup (p.Lys861delinsIleMetCysPheTyrPheArgAsnThrGlnAlaLysLysAsnLeuLysArgAspCysTer) | duplication | Angelman syndrome [RCV000144300] | Chr15:25339174..25339175 [GRCh38] Chr15:25584321..25584322 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2547_2567dup (p.Leu855_Lys856insAsnSerSerLysGluLysLeu) | duplication | Angelman syndrome [RCV000144316] | Chr15:25339188..25339189 [GRCh38] Chr15:25584335..25584336 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.62+20G>A | single nucleotide variant | Angelman syndrome [RCV000144322] | Chr15:25405441 [GRCh38] Chr15:25650588 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.2354+20A>G | single nucleotide variant | Angelman syndrome [RCV000144328] | Chr15:25354333 [GRCh38] Chr15:25599480 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly) | single nucleotide variant | Angelman syndrome [RCV001857494]|not provided [RCV001704063] | Chr15:25371762 [GRCh38] Chr15:25616909 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
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(chr15:25337273-25342717)x3 | copy number gain | See cases [RCV000134165] | Chr15:25337273..25342717 [GRCh38] Chr15:25582420..25587864 [GRCh37] Chr15:23133513..23138957 [NCBI36] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) | microsatellite | Angelman syndrome [RCV000633514]|Epileptic encephalopathy [RCV001799632]|not provided [RCV000201275] | Chr15:25370698..25370702 [GRCh38] Chr15:25615845..25615849 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130838.1(UBE3A):c.-44_*1888del | deletion | Angelman syndrome [RCV000229848] | Chr15:25337249..25405506 [GRCh38] Chr15:25582396..25650653 [GRCh37] Chr15:15q11.2 |
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(chr15:23410917-28275170)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 |
NM_130839.5(UBE3A):c.1521_1528del (p.Tyr508fs) | deletion | Angelman syndrome [RCV000147865] | Chr15:25370646..25370653 [GRCh38] Chr15:25615793..25615800 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1694G>A (p.Gly565Glu) | single nucleotide variant | Angelman syndrome [RCV000147868] | Chr15:25360442 [GRCh38] Chr15:25605589 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.565_571del (p.Glu189fs) | deletion | Angelman syndrome [RCV000147889] | Chr15:25371603..25371609 [GRCh38] Chr15:25616750..25616756 [GRCh37] Chr15:15q11.2 |
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(chr15:23462305-28275167)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 15q11.2-13.1(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(chr15:23462105-28290061)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 |
NM_130839.5(UBE3A):c.2535_2551del (p.Leu846fs) | deletion | Angelman syndrome [RCV000470807] | Chr15:25339205..25339221 [GRCh38] Chr15:25584352..25584368 [GRCh37] Chr15:15q11.2 |
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 |
NM_003097.6(SNRPN):c.-274G>A | single nucleotide variant | Autism spectrum disorder [RCV000398462]|Inborn genetic diseases [RCV003165850] | Chr15:24967952 [GRCh38] Chr15:25213099 [GRCh37] Chr15:15q11.2 |
uncertain significance |
GRCh38/hg38 15q11.2(chr15:24670048-24888623)x3 | copy number gain | See cases [RCV000137327] | Chr15:24670048..24888623 [GRCh38] Chr15:24915195..25133770 [GRCh37] Chr15:22466288..22684863 [NCBI36] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1933T>C (p.Phe645Leu) | single nucleotide variant | Angelman syndrome [RCV000803798]|UBE3A-related condition [RCV003415851]|not provided [RCV000082345] | Chr15:25356717 [GRCh38] Chr15:25601864 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) | single nucleotide variant | Angelman syndrome [RCV000470827]|Inborn genetic diseases [RCV002313829]|not provided [RCV000443306]|not specified [RCV000082348] | Chr15:25339138 [GRCh38] Chr15:25584285 [GRCh37] Chr15:15q11.2 |
benign |
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(chr15:25073275-25088727)x1 | copy number loss | See cases [RCV000138481] | Chr15:25073275..25088727 [GRCh38] Chr15:25318422..25333874 [GRCh37] Chr15:22869515..22884967 [NCBI36] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) | single nucleotide variant | Angelman syndrome [RCV000768361]|not provided [RCV000714145] | Chr15:25371592 [GRCh38] Chr15:25616739 [GRCh37] Chr15:15q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter) | single nucleotide variant | Angelman syndrome [RCV000008430] | Chr15:25370865 [GRCh38] Chr15:25616012 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_022807.5(SNRPN):c.-823T>C | single nucleotide variant | Autism spectrum disorder [RCV000266828] | Chr15:24823714 [GRCh38] Chr15:25068861 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1754-2A>C | single nucleotide variant | not provided [RCV000579260] | Chr15:25356898 [GRCh38] Chr15:25602045 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_003097.6(SNRPN):c.-20G>T | single nucleotide variant | Autism spectrum disorder [RCV000320161] | Chr15:24974434 [GRCh38] Chr15:25219581 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2553_2569del (p.Ser851fs) | deletion | Angelman syndrome [RCV000416334] | Chr15:25339187..25339203 [GRCh38] Chr15:25584334..25584350 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1314_1402del (p.Lys438fs) | deletion | Inborn genetic diseases [RCV000190730] | Chr15:25370772..25370860 [GRCh38] Chr15:25615919..25616007 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.900_912delinsC (p.Glu300_Pro304delinsAsp) | indel | not specified [RCV000192349] | Chr15:25371262..25371274 [GRCh38] Chr15:25616409..25616421 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2562dup (p.Leu855fs) | duplication | Angelman syndrome [RCV000195178] | Chr15:25339193..25339194 [GRCh38] Chr15:25584340..25584341 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His) | single nucleotide variant | Angelman syndrome [RCV000989273]|Inborn genetic diseases [RCV001266187]|not provided [RCV000483765] | Chr15:25370597 [GRCh38] Chr15:25615744 [GRCh37] Chr15:15q11.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_130839.5(UBE3A):c.2571_2574del (p.Glu857fs) | microsatellite | not provided [RCV000371187] | Chr15:25339182..25339185 [GRCh38] Chr15:25584329..25584332 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1937G>C (p.Arg646Pro) | single nucleotide variant | not specified [RCV000501878] | Chr15:25356713 [GRCh38] Chr15:25601860 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1822_1823del (p.Gln608fs) | deletion | not provided [RCV000179007] | Chr15:25356827..25356828 [GRCh38] Chr15:25601974..25601975 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1230G>C (p.Leu410Phe) | single nucleotide variant | Inborn genetic diseases [RCV000622795] | Chr15:25370944 [GRCh38] Chr15:25616091 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.130G>A (p.Glu44Lys) | single nucleotide variant | Inborn genetic diseases [RCV000623357]|not provided [RCV002469221] | Chr15:25375696 [GRCh38] Chr15:25620843 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.507A>G (p.Gln169=) | single nucleotide variant | Angelman syndrome [RCV001481044]|not specified [RCV000606645] | Chr15:25371667 [GRCh38] Chr15:25616814 [GRCh37] Chr15:15q11.2 |
likely benign |
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(chr15:23375044-28300209)x1 | copy number loss | See cases [RCV000139986] | Chr15:23375044..28300209 [GRCh38] Chr15:23620191..28545355 [GRCh37] Chr15:21171632..26218950 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)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(chr15:23319714-31175232)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(chr15:22358243-28481444)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 15q11.1-13.2(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(chr15:24116502-24873170)x1 | copy number loss | See cases [RCV000140613] | Chr15:24116502..24873170 [GRCh38] Chr15:24361649..25118317 [GRCh37] Chr15:21912742..22669410 [NCBI36] Chr15:15q11.2 |
uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3 | copy number gain | See cases [RCV000140622] | Chr15:23328044..28154050 [GRCh38] Chr15:23569415..28399196 [GRCh37] Chr15:21120856..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28281294)x3 | copy number gain | See cases [RCV000051818] | Chr15:23411789..28281294 [GRCh38] Chr15:23656936..28526440 [GRCh37] Chr15:21208377..26200035 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 | copy number loss | See cases [RCV000052348] | Chr15:22144677..30349193 [GRCh38] Chr15:22432628..30641396 [GRCh37] Chr15:19933992..28428688 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28197267)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(chr15:25161216-28190742)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 |
NM_130839.5(UBE3A):c.141G>A (p.Thr47=) | single nucleotide variant | Angelman syndrome [RCV001448686]|not specified [RCV000430049] | Chr15:25375685 [GRCh38] Chr15:25620832 [GRCh37] Chr15:15q11.2 |
likely benign |
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(chr15:23337069-28272443)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(chr15:23462305-28190742)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(chr15:21581401-28332641)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(chr15:22358243-28481444)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 15q11.2-13.2(chr15:23319714-30527306)x4 | copy number gain | See cases [RCV000142791] | Chr15:23319714..30527306 [GRCh38] Chr15:22765628..30819509 [GRCh37] Chr15:20316992..28606801 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1 | copy number loss | See cases [RCV000141730] | Chr15:23328044..28836775 [GRCh38] Chr15:22770421..29081921 [GRCh37] Chr15:20321785..26880962 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(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(chr15:23328044-28315123)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 |
NM_130839.5(UBE3A):c.63-5T>G | single nucleotide variant | not provided [RCV000144818] | Chr15:25375768 [GRCh38] Chr15:25620915 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2420C>T (p.Thr807Met) | single nucleotide variant | Angelman syndrome [RCV001216875]|not provided [RCV000144824] | Chr15:25340163 [GRCh38] Chr15:25585310 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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(chr15:22358243-28481444)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 |
NM_130839.5(UBE3A):c.926C>G (p.Ala309Gly) | single nucleotide variant | not provided [RCV000437771] | Chr15:25371248 [GRCh38] Chr15:25616395 [GRCh37] Chr15:15q11.2 |
likely pathogenic|uncertain significance |
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 |
NM_130839.5(UBE3A):c.-153G>A | single nucleotide variant | not specified [RCV000126210] | Chr15:25411960 [GRCh38] Chr15:25657107 [GRCh37] Chr15:15q11.2 |
benign |
NM_022807.5(SNRPN):c.-672T>C | single nucleotide variant | Autism spectrum disorder [RCV000376376] | Chr15:24829812 [GRCh38] Chr15:25074959 [GRCh37] Chr15:15q11.2 |
likely benign |
GRCh38/hg38 15q11.2(chr15:25087469-25088727)x1 | copy number loss | See cases [RCV000142962] | Chr15:25087469..25088727 [GRCh38] Chr15:25332616..25333874 [GRCh37] Chr15:22883709..22884967 [NCBI36] Chr15:15q11.2 |
likely benign |
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 |
NM_130839.5(UBE3A):c.1021C>T (p.Gln341Ter) | single nucleotide variant | Angelman syndrome [RCV000144265] | Chr15:25371153 [GRCh38] Chr15:25616300 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs) | deletion | Angelman syndrome [RCV000144266]|Inborn genetic diseases [RCV000623803] | Chr15:25371136..25371142 [GRCh38] Chr15:25616283..25616289 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1330G>T (p.Glu444Ter) | single nucleotide variant | Angelman syndrome [RCV000144271] | Chr15:25370844 [GRCh38] Chr15:25615991 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1421_1422del (p.Phe474fs) | deletion | Angelman syndrome [RCV000144274] | Chr15:25370752..25370753 [GRCh38] Chr15:25615899..25615900 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1431T>A (p.Cys477Ter) | single nucleotide variant | Angelman syndrome [RCV000144275] | Chr15:25370743 [GRCh38] Chr15:25615890 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1631dup (p.Asn544fs) | duplication | Angelman syndrome [RCV000144279] | Chr15:25360504..25360505 [GRCh38] Chr15:25605651..25605652 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs) | duplication | Angelman syndrome [RCV000144305] | Chr15:25339195..25339196 [GRCh38] Chr15:25584342..25584343 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?) | deletion | Angelman syndrome [RCV000144308] | Chr15:25339131..25339140 [GRCh38] Chr15:25584278..25584287 [GRCh37] Chr15:15q11.2 |
pathogenic|benign |
NM_130839.5(UBE3A):c.2129T>G (p.Phe710Cys) | single nucleotide variant | Angelman syndrome [RCV000144313] | Chr15:25354679 [GRCh38] Chr15:25599826 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) | single nucleotide variant | Angelman syndrome [RCV000144315]|Inborn genetic diseases [RCV002514772]|Neurodevelopmental disorder [RCV003389042] | Chr15:25339216 [GRCh38] Chr15:25584363 [GRCh37] Chr15:15q11.2 |
pathogenic|likely pathogenic |
NM_130839.5(UBE3A):c.770T>A (p.Leu257His) | single nucleotide variant | Angelman syndrome [RCV000144318] | Chr15:25371404 [GRCh38] Chr15:25616551 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile) | single nucleotide variant | Angelman syndrome [RCV000144327]|Inborn genetic diseases [RCV002444596]|not specified [RCV000147880] | Chr15:25354363 [GRCh38] Chr15:25599510 [GRCh37] Chr15:15q11.2 |
benign|likely benign|uncertain significance |
NM_130839.5(UBE3A):c.361+29T>C | single nucleotide variant | Angelman syndrome [RCV000144333] | Chr15:25375436 [GRCh38] Chr15:25620583 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1608+34T>C | single nucleotide variant | Angelman syndrome [RCV000144341] | Chr15:25370532 [GRCh38] Chr15:25615679 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser) | single nucleotide variant | Angelman syndrome [RCV000144350]|not provided [RCV001762325]|not specified [RCV000194329] | Chr15:25371503 [GRCh38] Chr15:25616650 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2091T>C (p.Gly697=) | single nucleotide variant | Angelman syndrome [RCV000144355] | Chr15:25355925 [GRCh38] Chr15:25601072 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) | single nucleotide variant | Angelman syndrome [RCV000144356]|not provided [RCV000766996]|not specified [RCV000192972] | Chr15:25355920 [GRCh38] Chr15:25601067 [GRCh37] Chr15:15q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.337_340del (p.Lys113fs) | deletion | Angelman syndrome [RCV000144542] | Chr15:25375486..25375489 [GRCh38] Chr15:25620633..25620636 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.748G>T (p.Glu250Ter) | single nucleotide variant | Angelman syndrome [RCV000144548] | Chr15:25371426 [GRCh38] Chr15:25616573 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.777T>A (p.Tyr259Ter) | single nucleotide variant | Angelman syndrome [RCV000144549] | Chr15:25371397 [GRCh38] Chr15:25616544 [GRCh37] Chr15:15q11.2 |
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 |
NM_130839.5(UBE3A):c.1480A>G (p.Asn494Asp) | single nucleotide variant | not provided [RCV000413886] | Chr15:25370694 [GRCh38] Chr15:25615841 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1170_1173del (p.Asn390fs) | deletion | Angelman syndrome [RCV000147860] | Chr15:25371001..25371004 [GRCh38] Chr15:25616148..25616151 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1753+12A>G | single nucleotide variant | Angelman syndrome [RCV000147871] | Chr15:25360371 [GRCh38] Chr15:25605518 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1823A>G (p.Gln608Arg) | single nucleotide variant | Angelman syndrome [RCV000147873] | Chr15:25356827 [GRCh38] Chr15:25601974 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter) | single nucleotide variant | Angelman syndrome [RCV000147891] | Chr15:25371285 [GRCh38] Chr15:25616432 [GRCh37] Chr15:15q11.2 |
pathogenic |
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 |
NC_000015.9:g.(?_25582396)_(25650653_?)dup | duplication | Angelman syndrome [RCV000469021] | Chr15:25337249..25405506 [GRCh38] Chr15:25582396..25650653 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NM_130839.5(UBE3A):c.2354+10T>C | single nucleotide variant | Angelman syndrome [RCV000633508] | Chr15:25354343 [GRCh38] Chr15:25599490 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.570G>T (p.Lys190Asn) | single nucleotide variant | Angelman syndrome [RCV000633515]|not provided [RCV001572481] | Chr15:25371604 [GRCh38] Chr15:25616751 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2162A>T (p.Lys721Ile) | single nucleotide variant | Angelman syndrome [RCV000633516] | Chr15:25354646 [GRCh38] Chr15:25599793 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1876C>T (p.Leu626=) | single nucleotide variant | Angelman syndrome [RCV000633518] | Chr15:25356774 [GRCh38] Chr15:25601921 [GRCh37] Chr15:15q11.2 |
likely benign |
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(chr15:23319714-28314256)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 |
NC_000015.9:g.(?_25584264)_(25654274_?)dup | duplication | Angelman syndrome [RCV000539666] | Chr15:25339117..25409127 [GRCh38] Chr15:25584264..25654274 [GRCh37] Chr15:15q11.2 |
pathogenic|likely pathogenic|uncertain significance |
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 15q11.2-12(chr15:23319714-25980547)x3 | copy number gain | See cases [RCV000137911] | Chr15:23319714..25980547 [GRCh38] Chr15:23179889..26225694 [GRCh37] Chr15:20731330..23776787 [NCBI36] Chr15:15q11.2-12 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)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(chr15:23410917-28446301)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 |
NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs) | duplication | Angelman syndrome [RCV000193223] | Chr15:25339188..25339189 [GRCh38] Chr15:25584335..25584336 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2238dup (p.Phe747fs) | duplication | Angelman syndrome [RCV000194009] | Chr15:25354569..25354570 [GRCh38] Chr15:25599716..25599717 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2523_2566dup (p.Lys856fs) | duplication | Angelman syndrome [RCV000194169] | Chr15:25339189..25339190 [GRCh38] Chr15:25584336..25584337 [GRCh37] Chr15:15q11.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 | copy number loss | See cases [RCV000050733] | Chr15:23462305..28275167 [GRCh38] Chr15:23707452..28520313 [GRCh37] Chr15:21258545..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2(chr15:25337273-25381835)x1 | copy number loss | See cases [RCV000050874] | Chr15:25337273..25381835 [GRCh38] Chr15:25582420..25626982 [GRCh37] Chr15:23133513..23178075 [NCBI36] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1541dup (p.Gln515fs) | duplication | not provided [RCV000484005] | Chr15:25370632..25370633 [GRCh38] Chr15:25615779..25615780 [GRCh37] Chr15:15q11.2 |
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 |
NM_130839.5(UBE3A):c.1754-4A>G | single nucleotide variant | Angelman syndrome [RCV001205261]|not provided [RCV001662501]|not specified [RCV000503675] | Chr15:25356900 [GRCh38] Chr15:25602047 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.340G>A (p.Gly114Ser) | single nucleotide variant | not provided [RCV003313587] | Chr15:25375486 [GRCh38] Chr15:25620633 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.21A>G (p.Arg7=) | single nucleotide variant | not specified [RCV000615890] | Chr15:25405502 [GRCh38] Chr15:25650649 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.517del (p.Glu173fs) | deletion | not provided [RCV000493743] | Chr15:25371657 [GRCh38] Chr15:25616804 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1228T>C (p.Leu410=) | single nucleotide variant | Angelman syndrome [RCV001505113]|not provided [RCV001698444] | Chr15:25370946 [GRCh38] Chr15:25616093 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1782del (p.Lys594fs) | deletion | Angelman syndrome [RCV002280132]|Inborn genetic diseases [RCV000622728] | Chr15:25356868 [GRCh38] Chr15:25602015 [GRCh37] Chr15:15q11.2 |
pathogenic|likely pathogenic |
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) | deletion | Angelman syndrome [RCV000701063]|not provided [RCV000201266] | Chr15:25339188..25339193 [GRCh38] Chr15:25584335..25584340 [GRCh37] Chr15:15q11.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) | single nucleotide variant | Angelman syndrome [RCV000144349]|Inborn genetic diseases [RCV002311731]|not specified [RCV000082350] | Chr15:25371697 [GRCh38] Chr15:25616844 [GRCh37] Chr15:15q11.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) | single nucleotide variant | Angelman syndrome [RCV000144353]|Inborn genetic diseases [RCV002312891]|not specified [RCV000177396] | Chr15:25370770 [GRCh38] Chr15:25615917 [GRCh37] Chr15:15q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) | single nucleotide variant | Angelman syndrome [RCV000144354]|Inborn genetic diseases [RCV002316377]|not provided [RCV001705914]|not specified [RCV000192008] | Chr15:25356883 [GRCh38] Chr15:25602030 [GRCh37] Chr15:15q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter) | single nucleotide variant | Angelman syndrome [RCV002248757]|not provided [RCV000523070] | Chr15:25375759 [GRCh38] Chr15:25620906 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2433_2434del (p.Arg811fs) | microsatellite | not provided [RCV000254960] | Chr15:25340149..25340150 [GRCh38] Chr15:25585296..25585297 [GRCh37] Chr15:15q11.2 |
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(chr15:23370621-28578576)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 |
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) | single nucleotide variant | Angelman syndrome [RCV000144351]|Inborn genetic diseases [RCV002512558]|not provided [RCV001719911] | Chr15:25371359 [GRCh38] Chr15:25616506 [GRCh37] Chr15:15q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.2400A>T (p.Arg800Ser) | single nucleotide variant | not provided [RCV000519773] | Chr15:25340183 [GRCh38] Chr15:25585330 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.732C>T (p.Leu244=) | single nucleotide variant | Angelman syndrome [RCV001499203] | Chr15:25371442 [GRCh38] Chr15:25616589 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1176A>T (p.Glu392Asp) | single nucleotide variant | Angelman syndrome [RCV000147861]|not provided [RCV000523791] | Chr15:25370998 [GRCh38] Chr15:25616145 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.290C>T (p.Ser97Leu) | single nucleotide variant | Angelman syndrome [RCV002527579]|not provided [RCV000523816] | Chr15:25375536 [GRCh38] Chr15:25620683 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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(chr15:23444168-28277347)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 |
NM_130839.5(UBE3A):c.1447del (p.Ala483fs) | deletion | Angelman syndrome [RCV000144276] | Chr15:25370727 [GRCh38] Chr15:25615874 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1597dup (p.Ala533fs) | duplication | Angelman syndrome [RCV000144278] | Chr15:25370576..25370577 [GRCh38] Chr15:25615723..25615724 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter) | single nucleotide variant | Angelman syndrome [RCV000144282] | Chr15:25356860 [GRCh38] Chr15:25602007 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1972_1973del (p.Ser658fs) | microsatellite | Angelman syndrome [RCV000144284] | Chr15:25356043..25356044 [GRCh38] Chr15:25601190..25601191 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2230_2234dup (p.Tyr745Ter) | duplication | Angelman syndrome [RCV000144290] | Chr15:25354573..25354574 [GRCh38] Chr15:25599720..25599721 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2293C>T (p.Gln765Ter) | single nucleotide variant | Angelman syndrome [RCV000144293] | Chr15:25354414 [GRCh38] Chr15:25599561 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2547_2614del (p.Ser850fs) | deletion | Angelman syndrome [RCV000144303] | Chr15:25339142..25339209 [GRCh38] Chr15:25584289..25584356 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg) | single nucleotide variant | Angelman syndrome [RCV000144309]|Inborn genetic diseases [RCV000622521] | Chr15:25360443 [GRCh38] Chr15:25605590 [GRCh37] Chr15:15q11.2 |
pathogenic|likely pathogenic |
NM_130839.5(UBE3A):c.1810G>C (p.Glu604Gln) | single nucleotide variant | Angelman syndrome [RCV000144311] | Chr15:25356840 [GRCh38] Chr15:25601987 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2463GAT[1] (p.Met822del) | microsatellite | Angelman syndrome [RCV000144314] | Chr15:25340115..25340117 [GRCh38] Chr15:25585262..25585264 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys) | single nucleotide variant | Angelman syndrome [RCV000144317] | Chr15:25371797 [GRCh38] Chr15:25616944 [GRCh37] Chr15:15q11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_130839.5(UBE3A):c.1757T>A (p.Met586Lys) | single nucleotide variant | Angelman syndrome [RCV000144321] | Chr15:25356893 [GRCh38] Chr15:25602040 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_003097.6(SNRPN):c.-39G>A | single nucleotide variant | Autism spectrum disorder [RCV000262201] | Chr15:24974415 [GRCh38] Chr15:25219562 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2499-37dup | duplication | Angelman syndrome [RCV000144331] | Chr15:25339293..25339294 [GRCh38] Chr15:25584440..25584441 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.361+30G>A | single nucleotide variant | Angelman syndrome [RCV000144334] | Chr15:25375435 [GRCh38] Chr15:25620582 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.458T>G (p.Val153Gly) | single nucleotide variant | Angelman syndrome [RCV000144335] | Chr15:25371716 [GRCh38] Chr15:25616863 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1823A>C (p.Gln608Pro) | single nucleotide variant | Angelman syndrome [RCV000144344] | Chr15:25356827 [GRCh38] Chr15:25601974 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.*3CAAAA[2] (p.Ter873=) | microsatellite | Angelman syndrome [RCV000144359]|not provided [RCV001575275] | Chr15:25339120..25339124 [GRCh38] Chr15:25584267..25584271 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.323_324del (p.Ile108fs) | deletion | Angelman syndrome [RCV000144540] | Chr15:25375502..25375503 [GRCh38] Chr15:25620649..25620650 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.640dup (p.Ser214fs) | duplication | Angelman syndrome [RCV000144547] | Chr15:25371533..25371534 [GRCh38] Chr15:25616680..25616681 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1425_1439del (p.Met475_Phe479del) | deletion | Angelman syndrome [RCV000144559] | Chr15:25370735..25370749 [GRCh38] Chr15:25615882..25615896 [GRCh37] Chr15:15q11.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23439508-28154050)x1 | copy number loss | See cases [RCV000134437] | Chr15:23439508..28154050 [GRCh38] Chr15:23684655..28399196 [GRCh37] Chr15:21236096..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser) | single nucleotide variant | Angelman syndrome [RCV000147875]|Inborn genetic diseases [RCV000624655] | Chr15:25356785 [GRCh38] Chr15:25601932 [GRCh37] Chr15:15q11.2 |
pathogenic|uncertain significance |
NM_130839.5(UBE3A):c.2131G>A (p.Val711Ile) | single nucleotide variant | not specified [RCV000147878] | Chr15:25354677 [GRCh38] Chr15:25599824 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs) | deletion | Angelman syndrome [RCV000147883]|Inborn genetic diseases [RCV000622970]|Intellectual disability [RCV001260843]|not provided [RCV000481125] | Chr15:25339186..25339189 [GRCh38] Chr15:25584333..25584336 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.440del (p.Ile147fs) | deletion | Angelman syndrome [RCV000147887] | Chr15:25371734 [GRCh38] Chr15:25616881 [GRCh37] Chr15:15q11.2 |
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 |
NM_130839.5(UBE3A):c.1196C>G (p.Pro399Arg) | single nucleotide variant | Angelman syndrome [RCV000532974] | Chr15:25370978 [GRCh38] Chr15:25616125 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_003097.6(SNRPN):c.-386C>T | single nucleotide variant | Autism spectrum disorder [RCV000295889] | Chr15:24962118 [GRCh38] Chr15:25207265 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 15q11.2-13.1(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(chr15:23523934-28280314)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 |
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=) | single nucleotide variant | Angelman syndrome [RCV000464266]|Inborn genetic diseases [RCV002311729]|not provided [RCV001647066]|not specified [RCV000082344] | Chr15:25356877 [GRCh38] Chr15:25602024 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) | single nucleotide variant | Angelman syndrome [RCV000227142]|Inborn genetic diseases [RCV002311732]|not specified [RCV000082351] | Chr15:25371582 [GRCh38] Chr15:25616729 [GRCh37] Chr15:15q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs) | deletion | Angelman syndrome [RCV002513849]|not provided [RCV000173915] | Chr15:25339190..25339193 [GRCh38] Chr15:25584337..25584340 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1179T>A (p.Asp393Glu) | single nucleotide variant | Angelman syndrome [RCV002526948]|not provided [RCV000486084] | Chr15:25370995 [GRCh38] Chr15:25616142 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1609-20dup | duplication | not specified [RCV000487000] | Chr15:25360544..25360545 [GRCh38] Chr15:25605691..25605692 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2519G>C (p.Cys840Ser) | single nucleotide variant | not provided [RCV000479347] | Chr15:25339237 [GRCh38] Chr15:25584384 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA (p.Arg536fs) | indel | not provided [RCV000177394] | Chr15:25370566..25370567 [GRCh38] Chr15:25615713..25615714 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.546_547insCT (p.Glu183fs) | insertion | not provided [RCV000177395] | Chr15:25371627..25371628 [GRCh38] Chr15:25616774..25616775 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1471T>G (p.Tyr491Asp) | single nucleotide variant | not provided [RCV000498471] | Chr15:25370703 [GRCh38] Chr15:25615850 [GRCh37] Chr15:15q11.2 |
likely pathogenic|uncertain significance |
NM_022807.5(SNRPN):c.-819C>A | single nucleotide variant | Autism spectrum disorder [RCV000324112] | Chr15:24823718 [GRCh38] Chr15:25068865 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2397_2400dup (p.Leu801fs) | duplication | Angelman syndrome [RCV000193045] | Chr15:25340182..25340183 [GRCh38] Chr15:25585329..25585330 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2281-15T>C | single nucleotide variant | Angelman syndrome [RCV002524817]|not specified [RCV000421087] | Chr15:25354441 [GRCh38] Chr15:25599588 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2592G>A (p.Thr864=) | single nucleotide variant | Angelman syndrome [RCV001400538]|not specified [RCV000421112] | Chr15:25339164 [GRCh38] Chr15:25584311 [GRCh37] Chr15:15q11.2 |
benign|likely benign |
NM_130839.5(UBE3A):c.2607dup (p.Gly870fs) | duplication | Angelman syndrome [RCV000194248] | Chr15:25339148..25339149 [GRCh38] Chr15:25584295..25584296 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1009A>T (p.Met337Leu) | single nucleotide variant | Angelman syndrome [RCV000765202]|not specified [RCV000500376] | Chr15:25371165 [GRCh38] Chr15:25616312 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2370C>T (p.Ile790=) | single nucleotide variant | Angelman syndrome [RCV002522500]|Inborn genetic diseases [RCV002318482]|not specified [RCV000423060] | Chr15:25340213 [GRCh38] Chr15:25585360 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) | single nucleotide variant | Angelman syndrome [RCV002056886]|not provided [RCV000729891]|not specified [RCV000501444] | Chr15:25356051 [GRCh38] Chr15:25601198 [GRCh37] Chr15:15q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.1169A>G (p.Asn390Ser) | single nucleotide variant | Angelman syndrome [RCV001231001]|See cases [RCV002252144]|not specified [RCV000503287] | Chr15:25371005 [GRCh38] Chr15:25616152 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NM_130839.5(UBE3A):c.2403CTT[1] (p.Phe802del) | microsatellite | Inborn genetic diseases [RCV000623404] | Chr15:25340175..25340177 [GRCh38] Chr15:25585322..25585324 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.151_153del (p.Cys51del) | deletion | Inborn genetic diseases [RCV000623505] | Chr15:25375673..25375675 [GRCh38] Chr15:25620820..25620822 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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(chr15:23328044-28578576)x1 | copy number loss | See cases [RCV000140454] | Chr15:23328044..28578576 [GRCh38] Chr15:22770421..28823722 [GRCh37] Chr15:20321785..26622763 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)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 |
NM_130839.5(UBE3A):c.342C>A (p.Gly114=) | single nucleotide variant | Angelman syndrome [RCV001486202]|Inborn genetic diseases [RCV002438576]|not specified [RCV000611486] | Chr15:25375484 [GRCh38] Chr15:25620631 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_022807.5(SNRPN):c.-569C>T | single nucleotide variant | Autism spectrum disorder [RCV000335499] | Chr15:24886525 [GRCh38] Chr15:25131672 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs) | deletion | Angelman syndrome [RCV000202543]|Inborn genetic diseases [RCV000622670]|UBE3A-related condition [RCV003401095] | Chr15:25356778..25356779 [GRCh38] Chr15:25601925..25601926 [GRCh37] Chr15:15q11.2 |
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(chr15:23319714-28190742)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 15q11.2-13.2(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(chr15:23398620-28190742)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(chr15:23411589-28275308)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(chr15:23450287-28446314)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(chr15:23537429-28269468)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 |
NM_130839.5(UBE3A):c.361+18C>G | single nucleotide variant | not specified [RCV000434662] | Chr15:25375447 [GRCh38] Chr15:25620594 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1959+11T>A | single nucleotide variant | Angelman syndrome [RCV002065432]|not specified [RCV000609052] | Chr15:25356680 [GRCh38] Chr15:25601827 [GRCh37] Chr15:15q11.2 |
benign|likely benign |
NM_130839.5(UBE3A):c.1038T>C (p.Tyr346=) | single nucleotide variant | Angelman syndrome [RCV001468086]|not specified [RCV000437460] | Chr15:25371136 [GRCh38] Chr15:25616283 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) | single nucleotide variant | Angelman syndrome [RCV000983370]|not specified [RCV000437526] | Chr15:25360516 [GRCh38] Chr15:25605663 [GRCh37] Chr15:15q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.2281-12T>C | single nucleotide variant | not specified [RCV000611902] | Chr15:25354438 [GRCh38] Chr15:25599585 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2499-5_2499-2del | deletion | not specified [RCV000609334] | Chr15:25339259..25339262 [GRCh38] Chr15:25584406..25584409 [GRCh37] Chr15:15q11.2 |
likely benign |
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 | copy number gain | See cases [RCV000052305] | Chr15:19879750..27865713 [GRCh38] Chr15:20085003..28178425 [GRCh37] Chr15:18345017..25852020 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-12(chr15:25414685-25505084)x1 | copy number loss | See cases [RCV000051584] | Chr15:25414685..25505084 [GRCh38] Chr15:25659832..25750231 [GRCh37] Chr15:23210925..23301324 [NCBI36] Chr15:15q11.2-12 |
pathogenic |
NM_130839.5(UBE3A):c.2596del (p.Ala866fs) | deletion | not provided [RCV000487751] | Chr15:25339160 [GRCh38] Chr15:25584307 [GRCh37] Chr15:15q11.2 |
likely 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(chr15:24233258-24955243)x3 | copy number gain | See cases [RCV000141645] | Chr15:24233258..24955243 [GRCh38] Chr15:24478405..25200390 [GRCh37] Chr15:22029498..22751483 [NCBI36] Chr15:15q11.2 |
uncertain significance |
GRCh38/hg38 15q11.2-14(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 |
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe) | single nucleotide variant | Angelman syndrome [RCV000147882]|See cases [RCV002274930]|not provided [RCV000144763] | Chr15:25339193 [GRCh38] Chr15:25584340 [GRCh37] Chr15:15q11.2 |
likely pathogenic|uncertain significance |
NM_130839.5(UBE3A):c.175C>T (p.Arg59Cys) | single nucleotide variant | Angelman syndrome [RCV002512563]|not provided [RCV000144764] | Chr15:25375651 [GRCh38] Chr15:25620798 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NM_130839.5(UBE3A):c.199A>G (p.Ile67Val) | single nucleotide variant | Angelman syndrome [RCV002260624]|Inborn genetic diseases [RCV001266834]|not provided [RCV000144820] | Chr15:25375627 [GRCh38] Chr15:25620774 [GRCh37] Chr15:15q11.2 |
likely pathogenic|uncertain significance |
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(chr15:23319714-28446455)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 |
NM_130839.5(UBE3A):c.1953_1954del (p.His652fs) | microsatellite | not provided [RCV000255672] | Chr15:25356696..25356697 [GRCh38] Chr15:25601843..25601844 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) | single nucleotide variant | Angelman syndrome [RCV000147884]|not provided [RCV000154106] | Chr15:25339147 [GRCh38] Chr15:25584294 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_022807.5(SNRPN):c.-584A>G | single nucleotide variant | Autism spectrum disorder [RCV000375031] | Chr15:24829900 [GRCh38] Chr15:25075047 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) | single nucleotide variant | Angelman syndrome [RCV000144336]|Inborn genetic diseases [RCV002345433]|not provided [RCV000858785]|not specified [RCV000126214] | Chr15:25371556 [GRCh38] Chr15:25616703 [GRCh37] Chr15:15q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
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 15q11.2-13.1(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 |
NM_130839.5(UBE3A):c.1699_1702dup (p.Ser568fs) | duplication | Angelman syndrome [RCV000144281] | Chr15:25360433..25360434 [GRCh38] Chr15:25605580..25605581 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2017dup (p.Met673fs) | duplication | Angelman syndrome [RCV000144286] | Chr15:25355998..25355999 [GRCh38] Chr15:25601145..25601146 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2246del (p.Pro749fs) | deletion | Angelman syndrome [RCV000144292] | Chr15:25354562 [GRCh38] Chr15:25599709 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter) | single nucleotide variant | Angelman syndrome [RCV000144294] | Chr15:25354402 [GRCh38] Chr15:25599549 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2307_2311dup (p.Thr771fs) | duplication | Angelman syndrome [RCV000144296] | Chr15:25354395..25354396 [GRCh38] Chr15:25599542..25599543 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2349dup (p.Ile784fs) | duplication | Angelman syndrome [RCV000144297] | Chr15:25354357..25354358 [GRCh38] Chr15:25599504..25599505 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del) | microsatellite | Angelman syndrome [RCV000144310] | Chr15:25356843..25356845 [GRCh38] Chr15:25601990..25601992 [GRCh37] Chr15:15q11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_130839.5(UBE3A):c.1490G>C (p.Arg497Pro) | single nucleotide variant | Angelman syndrome [RCV000144320] | Chr15:25370684 [GRCh38] Chr15:25615831 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2281-42T>C | single nucleotide variant | Angelman syndrome [RCV000144326] | Chr15:25354468 [GRCh38] Chr15:25599615 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2499-31T>G | single nucleotide variant | Angelman syndrome [RCV000144330] | Chr15:25339288 [GRCh38] Chr15:25584435 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) | single nucleotide variant | Angelman syndrome [RCV000144337]|Inborn genetic diseases [RCV002316923]|not provided [RCV000488159] | Chr15:25371110 [GRCh38] Chr15:25616257 [GRCh37] Chr15:15q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 15q11.2(chr15:24847126-24862220)x3 | copy number gain | See cases [RCV000053710] | Chr15:24847126..24862220 [GRCh38] Chr15:25092273..25107367 [GRCh37] Chr15:22643366..22658460 [NCBI36] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.1753+32G>A | single nucleotide variant | Angelman syndrome [RCV000144342] | Chr15:25360351 [GRCh38] Chr15:25605498 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2124+9T>C | single nucleotide variant | Angelman syndrome [RCV000144346]|not provided [RCV000858258]|not specified [RCV000082346] | Chr15:25355883 [GRCh38] Chr15:25601030 [GRCh37] Chr15:15q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_130839.5(UBE3A):c.2124+19T>G | single nucleotide variant | Angelman syndrome [RCV000144357] | Chr15:25355873 [GRCh38] Chr15:25601020 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.*46del | deletion | Angelman syndrome [RCV000144360] | Chr15:25339091 [GRCh38] Chr15:25584238 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.362-2A>T | single nucleotide variant | Angelman syndrome [RCV000144551] | Chr15:25371814 [GRCh38] Chr15:25616961 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.901A>G (p.Met301Val) | single nucleotide variant | not provided [RCV000144821] | Chr15:25371273 [GRCh38] Chr15:25616420 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1185A>G (p.Glu395=) | single nucleotide variant | Angelman syndrome [RCV000463996]|Inborn genetic diseases [RCV002312890]|not specified [RCV000154107] | Chr15:25370989 [GRCh38] Chr15:25616136 [GRCh37] Chr15:15q11.2 |
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(chr15:23319714-28275170)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(chr15:22358243-28481444)x1 | copy number loss | See cases [RCV000134082] | Chr15:22358243..28481444 [GRCh38] Chr15:22652047..28705151 [GRCh37] Chr15:20203411..26524679 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28694922)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 |
NM_130839.5(UBE3A):c.1192A>C (p.Ile398Leu) | single nucleotide variant | Angelman syndrome [RCV000147862] | Chr15:25370982 [GRCh38] Chr15:25616129 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1659T>A (p.Tyr553Ter) | single nucleotide variant | Angelman syndrome [RCV000147867] | Chr15:25360477 [GRCh38] Chr15:25605624 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser) | single nucleotide variant | Angelman syndrome [RCV000147869] | Chr15:25360394 [GRCh38] Chr15:25605541 [GRCh37] Chr15:15q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_130839.5(UBE3A):c.2280G>C (p.Arg760=) | single nucleotide variant | not specified [RCV000147879] | Chr15:25354528 [GRCh38] Chr15:25599675 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His) | single nucleotide variant | Angelman syndrome [RCV000147881] | Chr15:25339211 [GRCh38] Chr15:25584358 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.448_459del (p.Ile150_Val153del) | deletion | Angelman syndrome [RCV000147888] | Chr15:25371715..25371726 [GRCh38] Chr15:25616862..25616873 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x1 | copy number loss | See cases [RCV000135313] | Chr15:23328044..28154050 [GRCh38] Chr15:22860857..28399196 [GRCh37] Chr15:20412298..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2(chr15:24096937-24873170)x3 | copy number gain | See cases [RCV000135319] | Chr15:24096937..24873170 [GRCh38] Chr15:24342084..25118317 [GRCh37] Chr15:21893177..22669410 [NCBI36] Chr15:15q11.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)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 |
NM_130839.5(UBE3A):c.2355-6_2355-5insTAAT | insertion | Angelman syndrome [RCV000633517] | Chr15:25340233..25340234 [GRCh38] Chr15:25585380..25585381 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_003097.6(SNRPN):c.-86G>A | single nucleotide variant | Autism spectrum disorder [RCV000359287] | Chr15:24974368 [GRCh38] Chr15:25219515 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 15q11.2-12(chr15:25337273-25553323)x1 | copy number loss | See cases [RCV000136869] | Chr15:25337273..25553323 [GRCh38] Chr15:25582420..25798470 [GRCh37] Chr15:23133513..23349563 [NCBI36] Chr15:15q11.2-12 |
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 |
NM_003097.6(SNRPN):c.-89T>C | single nucleotide variant | Autism spectrum disorder [RCV000302218]|not provided [RCV001642979] | Chr15:24974365 [GRCh38] Chr15:25219512 [GRCh37] Chr15:15q11.2 |
benign|likely benign |
NM_003097.6(SNRPN):c.-378C>T | single nucleotide variant | Autism spectrum disorder [RCV000399242]|not provided [RCV000896571] | Chr15:24962126 [GRCh38] Chr15:25207273 [GRCh37] Chr15:15q11.2 |
benign|uncertain significance |
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 |
NM_003097.6(SNRPN):c.685+14T>G | single nucleotide variant | not provided [RCV000514810] | Chr15:24978332 [GRCh38] Chr15:25223479 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2406_2414del (p.Leu803_Phe805del) | deletion | Angelman syndrome [RCV000543322] | Chr15:25340169..25340177 [GRCh38] Chr15:25585316..25585324 [GRCh37] Chr15:15q11.2 |
likely pathogenic|uncertain significance |
GRCh38/hg38 15q11.2(chr15:25084469-25088727)x1 | copy number loss | See cases [RCV000138410] | Chr15:25084469..25088727 [GRCh38] Chr15:25329616..25333874 [GRCh37] Chr15:22880709..22884967 [NCBI36] Chr15:15q11.2 |
likely benign |
GRCh38/hg38 15q11.2(chr15:25087769-25088727)x1 | copy number loss | See cases [RCV000138475] | Chr15:25087769..25088727 [GRCh38] Chr15:25332916..25333874 [GRCh37] Chr15:22884009..22884967 [NCBI36] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1052A>G (p.Asn351Ser) | single nucleotide variant | Angelman syndrome [RCV000546952]|not provided [RCV003392369] | Chr15:25371122 [GRCh38] Chr15:25616269 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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 |
NM_130839.5(UBE3A):c.493C>T (p.Arg165Trp) | single nucleotide variant | not provided [RCV000489469] | Chr15:25371681 [GRCh38] Chr15:25616828 [GRCh37] Chr15:15q11.2 |
likely pathogenic|uncertain significance |
NM_022807.5(SNRPN):c.-596del | deletion | Autism spectrum disorder [RCV000318345] | Chr15:24829888 [GRCh38] Chr15:25075035 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser) | single nucleotide variant | Angelman syndrome [RCV000690468]|not provided [RCV000597449] | Chr15:25354673 [GRCh38] Chr15:25599820 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.744A>T (p.Lys248Asn) | single nucleotide variant | not provided [RCV000497948] | Chr15:25371430 [GRCh38] Chr15:25616577 [GRCh37] Chr15:15q11.2 |
uncertain significance |
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(chr15:22358243-28481444)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 |
NM_130839.5(UBE3A):c.62+1_62+2insAA | insertion | Angelman syndrome [RCV000194951] | Chr15:25405459..25405460 [GRCh38] Chr15:25650606..25650607 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2535_2538del (p.Leu845fs) | deletion | Angelman syndrome [RCV000196394] | Chr15:25339218..25339221 [GRCh38] Chr15:25584365..25584368 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2567_2570dup (p.Leu859fs) | duplication | not provided [RCV000627512] | Chr15:25339185..25339186 [GRCh38] Chr15:25584332..25584333 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.512C>G (p.Thr171Ser) | single nucleotide variant | Angelman syndrome [RCV001861691]|not provided [RCV000658166] | Chr15:25371662 [GRCh38] Chr15:25616809 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter) | single nucleotide variant | Angelman syndrome [RCV001507035]|not provided [RCV000658116] | Chr15:25370967 [GRCh38] Chr15:25616114 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2503C>T (p.Pro835Ser) | single nucleotide variant | not provided [RCV000658324] | Chr15:25339253 [GRCh38] Chr15:25584400 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1696G>A (p.Gly566Ser) | single nucleotide variant | Angelman syndrome [RCV000677659] | Chr15:25360440 [GRCh38] Chr15:25605587 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2322C>T (p.Asp774=) | single nucleotide variant | Angelman syndrome [RCV000874433]|Inborn genetic diseases [RCV002314508]|not provided [RCV001619827] | Chr15:25354385 [GRCh38] Chr15:25599532 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2430C>T (p.Asp810=) | single nucleotide variant | Angelman syndrome [RCV002534544]|Inborn genetic diseases [RCV002316181] | Chr15:25340153 [GRCh38] Chr15:25585300 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.489C>G (p.Ser163Arg) | single nucleotide variant | not specified [RCV000678761] | Chr15:25371685 [GRCh38] Chr15:25616832 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1133C>G (p.Ala378Gly) | single nucleotide variant | Angelman syndrome [RCV000690074]|not provided [RCV001550951] | Chr15:25371041 [GRCh38] Chr15:25616188 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1153G>A (p.Val385Met) | single nucleotide variant | Angelman syndrome [RCV000692925] | Chr15:25371021 [GRCh38] Chr15:25616168 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2323G>A (p.Gly775Ser) | single nucleotide variant | Angelman syndrome [RCV000695140]|not provided [RCV003228980] | Chr15:25354384 [GRCh38] Chr15:25599531 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NC_000015.10:g.(?_25360363)_(25360547_?)del | deletion | Angelman syndrome [RCV000707742] | Chr15:25360363..25360547 [GRCh38] Chr15:25605510..25605694 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.647A>C (p.Gln216Pro) | single nucleotide variant | Angelman syndrome [RCV000691831]|not provided [RCV002285398] | Chr15:25371527 [GRCh38] Chr15:25616674 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.854T>C (p.Ile285Thr) | single nucleotide variant | Angelman syndrome [RCV000699666] | Chr15:25371320 [GRCh38] Chr15:25616467 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NC_000015.10:g.(?_25375445)_(25375783_?)del | deletion | Angelman syndrome [RCV000708279] | Chr15:25375445..25375783 [GRCh38] Chr15:25620592..25620930 [GRCh37] Chr15:15q11.2 |
pathogenic |
NC_000015.10:g.(?_24566038)_(25781223_?)del | deletion | Angelman syndrome [RCV000708384] | Chr15:24566038..25781223 [GRCh38] Chr15:24811185..26026370 [GRCh37] Chr15:15q11.2-12 |
pathogenic |
NM_130839.5(UBE3A):c.2030T>C (p.Phe677Ser) | single nucleotide variant | Angelman syndrome [RCV000700045] | Chr15:25355986 [GRCh38] Chr15:25601133 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1678_1699delinsT (p.Gln560_Val567delinsPhe) | indel | Angelman syndrome [RCV000692367] | Chr15:25360437..25360458 [GRCh38] Chr15:25605584..25605605 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2604A>T (p.Gly868=) | single nucleotide variant | Angelman syndrome [RCV000695337] | Chr15:25339152 [GRCh38] Chr15:25584299 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.342C>T (p.Gly114=) | single nucleotide variant | Angelman syndrome [RCV000704882]|not provided [RCV001672926] | Chr15:25375484 [GRCh38] Chr15:25620631 [GRCh37] Chr15:15q11.2 |
benign|likely benign|uncertain significance |
NC_000015.9:g.(?_25584264)_(25620930_?)dup | duplication | Angelman syndrome [RCV000707752] | Chr15:25339117..25375783 [GRCh38] Chr15:25584264..25620930 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1600del (p.Val535fs) | deletion | Angelman syndrome [RCV000688988] | Chr15:25370574 [GRCh38] Chr15:25615721 [GRCh37] Chr15:15q11.2 |
pathogenic |
NC_000015.10:g.(?_25354333)_(25360547_?)del | deletion | Angelman syndrome [RCV000708116] | Chr15:25354333..25360547 [GRCh38] Chr15:25599480..25605694 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.733T>G (p.Ser245Ala) | single nucleotide variant | Angelman syndrome [RCV000692007] | Chr15:25371441 [GRCh38] Chr15:25616588 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1224A>C (p.Glu408Asp) | single nucleotide variant | Inborn genetic diseases [RCV002315318] | Chr15:25370950 [GRCh38] Chr15:25616097 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.222G>A (p.Lys74=) | single nucleotide variant | Angelman syndrome [RCV002067017]|Inborn genetic diseases [RCV002316060] | Chr15:25375604 [GRCh38] Chr15:25620751 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2461_2470del (p.Leu820_Lys821insTer) | deletion | Inborn genetic diseases [RCV002318833] | Chr15:25340113..25340122 [GRCh38] Chr15:25585260..25585269 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2598C>T (p.Ala866=) | single nucleotide variant | Inborn genetic diseases [RCV002317491] | Chr15:25339158 [GRCh38] Chr15:25584305 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1271C>G (p.Pro424Arg) | single nucleotide variant | Inborn genetic diseases [RCV002318318] | Chr15:25370903 [GRCh38] Chr15:25616050 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1456A>G (p.Lys486Glu) | single nucleotide variant | Inborn genetic diseases [RCV002316869] | Chr15:25370718 [GRCh38] Chr15:25615865 [GRCh37] Chr15:15q11.2 |
likely pathogenic|uncertain significance |
NM_130839.5(UBE3A):c.406T>C (p.Leu136=) | single nucleotide variant | Angelman syndrome [RCV001401507]|Inborn genetic diseases [RCV002317543] | Chr15:25371768 [GRCh38] Chr15:25616915 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.20+447A>G | single nucleotide variant | not provided [RCV001573760] | Chr15:25408641 [GRCh38] Chr15:25653788 [GRCh37] Chr15:15q11.2 |
uncertain significance |
Single allele | duplication | Schizophrenia [RCV000754156] | Chr15:23319712..28684313 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
Single allele | duplication | Autism [RCV000754147] | Chr15:22420897..32130343 [GRCh38] Chr15:15q11.2-13.3 |
pathogenic |
Single allele | duplication | Autism [RCV000754157] | Chr15:23319712..28800324 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
Single allele | duplication | Schizophrenia [RCV000754155] | Chr15:23157975..28774125 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
NM_130839.5(UBE3A):c.2125-96_2125-94del | deletion | not provided [RCV001581866] | Chr15:25354777..25354779 [GRCh38] Chr15:25599924..25599926 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.21-55dup | duplication | not provided [RCV001534213] | Chr15:25405548..25405549 [GRCh38] Chr15:25650695..25650696 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.*3_*17del (p.Ter873=) | deletion | not provided [RCV001566731] | Chr15:25339120..25339134 [GRCh38] Chr15:25584267..25584281 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter) | single nucleotide variant | Angelman syndrome [RCV001507036]|not provided [RCV000760659] | Chr15:25371548 [GRCh38] Chr15:25616695 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2419del (p.Thr807fs) | deletion | not provided [RCV003312296] | Chr15:25340164 [GRCh38] Chr15:25585311 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.368C>G (p.Thr123Ser) | single nucleotide variant | Angelman syndrome [RCV001067071] | Chr15:25371806 [GRCh38] Chr15:25616953 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.870T>C (p.Asn290=) | single nucleotide variant | not provided [RCV001608830] | Chr15:25371304 [GRCh38] Chr15:25616451 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.883A>G (p.Ser295Gly) | single nucleotide variant | Angelman syndrome [RCV000985022] | Chr15:25371291 [GRCh38] Chr15:25616438 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.400C>T (p.Leu134Phe) | single nucleotide variant | Angelman syndrome [RCV003120626]|not provided [RCV001548031] | Chr15:25371774 [GRCh38] Chr15:25616921 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.-164-5921T>A | single nucleotide variant | not provided [RCV001666243] | Chr15:25417892 [GRCh38] Chr15:25663039 [GRCh37] Chr15:15q11.2 |
benign |
NM_003097.6(SNRPN):c.168G>A (p.Ala56=) | single nucleotide variant | not provided [RCV000943288] | Chr15:24976317 [GRCh38] Chr15:25221464 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1836T>C (p.Ile612=) | single nucleotide variant | not provided [RCV000925955] | Chr15:25356814 [GRCh38] Chr15:25601961 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.211G>T (p.Glu71Ter) | single nucleotide variant | Angelman syndrome [RCV000853580] | Chr15:25375615 [GRCh38] Chr15:25620762 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_003097.6(SNRPN):c.261C>G (p.Pro87=) | single nucleotide variant | not provided [RCV000901722] | Chr15:24976410 [GRCh38] Chr15:25221557 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.558T>C (p.Asp186=) | single nucleotide variant | Angelman syndrome [RCV000944447] | Chr15:25371616 [GRCh38] Chr15:25616763 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1854G>C (p.Leu618=) | single nucleotide variant | Angelman syndrome [RCV000867264]|not provided [RCV001172082] | Chr15:25356796 [GRCh38] Chr15:25601943 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1273C>T (p.Leu425=) | single nucleotide variant | Angelman syndrome [RCV000927350] | Chr15:25370901 [GRCh38] Chr15:25616048 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130838.4(UBE3A):c.1831C>T (p.Pro611Ser) | single nucleotide variant | Esophageal atresia [RCV000984769] | Chr15:25356759 [GRCh38] Chr15:25601906 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.927G>A (p.Ala309=) | single nucleotide variant | Angelman syndrome [RCV001422841]|Inborn genetic diseases [RCV002372716]|not provided [RCV000995273] | Chr15:25371247 [GRCh38] Chr15:25616394 [GRCh37] Chr15:15q11.2 |
benign|likely benign |
NM_130839.5(UBE3A):c.20+473G>A | single nucleotide variant | not provided [RCV000995276] | Chr15:25408615 [GRCh38] Chr15:25653762 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.410G>A (p.Cys137Tyr) | single nucleotide variant | Angelman syndrome [RCV001072041] | Chr15:25371764 [GRCh38] Chr15:25616911 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.589G>A (p.Ala197Thr) | single nucleotide variant | Angelman syndrome [RCV001060515] | Chr15:25371585 [GRCh38] Chr15:25616732 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2442G>A (p.Val814=) | single nucleotide variant | Angelman syndrome [RCV001474694] | Chr15:25340141 [GRCh38] Chr15:25585288 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_003097.6(SNRPN):c.624T>G (p.Ala208=) | single nucleotide variant | not provided [RCV000897253] | Chr15:24978257 [GRCh38] Chr15:25223404 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.291G>A (p.Ser97=) | single nucleotide variant | Angelman syndrome [RCV001472023] | Chr15:25375535 [GRCh38] Chr15:25620682 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.873A>G (p.Arg291=) | single nucleotide variant | Angelman syndrome [RCV001487150] | Chr15:25371301 [GRCh38] Chr15:25616448 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_003097.6(SNRPN):c.534C>T (p.Pro178=) | single nucleotide variant | not provided [RCV000970278] | Chr15:24977891 [GRCh38] Chr15:25223038 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.1428A>G (p.Thr476=) | single nucleotide variant | Angelman syndrome [RCV000872475] | Chr15:25370746 [GRCh38] Chr15:25615893 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.20+402A>G | single nucleotide variant | not provided [RCV003313497] | Chr15:25408686 [GRCh38] Chr15:25653833 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1609-303_1609-302insCTAA | insertion | not provided [RCV000827798] | Chr15:25360829..25360830 [GRCh38] Chr15:25605976..25605977 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.1754-271A>G | single nucleotide variant | not provided [RCV000831640] | Chr15:25357167 [GRCh38] Chr15:25602314 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.425A>C (p.Asp142Ala) | single nucleotide variant | Angelman syndrome [RCV000818599] | Chr15:25371749 [GRCh38] Chr15:25616896 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1960-277C>T | single nucleotide variant | not provided [RCV000827909] | Chr15:25356333 [GRCh38] Chr15:25601480 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.362-115C>T | single nucleotide variant | not provided [RCV000834563] | Chr15:25371927 [GRCh38] Chr15:25617074 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.983_987del (p.Tyr328fs) | deletion | Intellectual disability [RCV000850199] | Chr15:25371187..25371191 [GRCh38] Chr15:25616334..25616338 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1060A>G (p.Asn354Asp) | single nucleotide variant | Angelman syndrome [RCV000801133] | Chr15:25371114 [GRCh38] Chr15:25616261 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2426_2427del (p.Thr809fs) | microsatellite | Angelman syndrome [RCV000824274] | Chr15:25340156..25340157 [GRCh38] Chr15:25585303..25585304 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2003A>G (p.Asn668Ser) | single nucleotide variant | Angelman syndrome [RCV000798442]|UBE3A-related condition [RCV003411755] | Chr15:25356013 [GRCh38] Chr15:25601160 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2499-219A>G | single nucleotide variant | not provided [RCV000837067] | Chr15:25339476 [GRCh38] Chr15:25584623 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.2354+164C>T | single nucleotide variant | not provided [RCV000837087] | Chr15:25354189 [GRCh38] Chr15:25599336 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1976T>G (p.Leu659Ter) | single nucleotide variant | Angelman syndrome [RCV000989272] | Chr15:25356040 [GRCh38] Chr15:25601187 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter) | single nucleotide variant | Angelman syndrome [RCV000989275]|Intellectual disability [RCV001260805] | Chr15:25371348 [GRCh38] Chr15:25616495 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.986A>G (p.Asn329Ser) | single nucleotide variant | Angelman syndrome [RCV000810290]|not provided [RCV001573453] | Chr15:25371188 [GRCh38] Chr15:25616335 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu) | single nucleotide variant | Angelman syndrome [RCV000810663] | Chr15:25340139 [GRCh38] Chr15:25585286 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.589G>T (p.Ala197Ser) | single nucleotide variant | Angelman syndrome [RCV000805189]|Inborn genetic diseases [RCV002534803] | Chr15:25371585 [GRCh38] Chr15:25616732 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1482T>C (p.Asn494=) | single nucleotide variant | Angelman syndrome [RCV000805190]|not provided [RCV001637993] | Chr15:25370692 [GRCh38] Chr15:25615839 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.1322del (p.Ile441fs) | deletion | Angelman syndrome [RCV000799398] | Chr15:25370852 [GRCh38] Chr15:25615999 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2499-152T>C | single nucleotide variant | not provided [RCV000831541] | Chr15:25339409 [GRCh38] Chr15:25584556 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.2391del (p.Glu797fs) | deletion | not provided [RCV001008597] | Chr15:25340192 [GRCh38] Chr15:25585339 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2198G>A (p.Gly733Asp) | single nucleotide variant | not specified [RCV001174844] | Chr15:25354610 [GRCh38] Chr15:25599757 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.675C>A (p.Gly225=) | single nucleotide variant | not provided [RCV000995274] | Chr15:25371499 [GRCh38] Chr15:25616646 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.333C>A (p.Asn111Lys) | single nucleotide variant | not provided [RCV000995275] | Chr15:25375493 [GRCh38] Chr15:25620640 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.826C>A (p.Arg276=) | single nucleotide variant | Angelman syndrome [RCV001237551] | Chr15:25371348 [GRCh38] Chr15:25616495 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.659A>G (p.Asn220Ser) | single nucleotide variant | Angelman syndrome [RCV001221514] | Chr15:25371515 [GRCh38] Chr15:25616662 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1012G>T (p.Glu338Ter) | single nucleotide variant | Angelman syndrome [RCV001221493] | Chr15:25371162 [GRCh38] Chr15:25616309 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2198G>T (p.Gly733Val) | single nucleotide variant | Angelman syndrome [RCV000989271] | Chr15:25354610 [GRCh38] Chr15:25599757 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.779T>A (p.Leu260Ter) | single nucleotide variant | Angelman syndrome [RCV003223601] | Chr15:25371395 [GRCh38] Chr15:25616542 [GRCh37] Chr15:15q11.2 |
pathogenic |
GRCh38/hg38 15q11.2(chr15:25354042-25357067)x1 | copy number loss | Angelman syndrome [RCV003327620] | Chr15:25354042..25357067 [GRCh38] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.167C>A (p.Thr56Asn) | single nucleotide variant | Angelman syndrome [RCV001229891] | Chr15:25375659 [GRCh38] Chr15:25620806 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.*199A>G | single nucleotide variant | not provided [RCV001549953] | Chr15:25338938 [GRCh38] Chr15:25584085 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1936C>T (p.Arg646Cys) | single nucleotide variant | not provided [RCV001576361] | Chr15:25356714 [GRCh38] Chr15:25601861 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_003097.6(SNRPN):c.324G>T (p.Arg108Ser) | single nucleotide variant | not provided [RCV003239029] | Chr15:24976933 [GRCh38] Chr15:25222080 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.988_989delinsTT (p.Ala330Leu) | indel | not provided [RCV001575793] | Chr15:25371185..25371186 [GRCh38] Chr15:25616332..25616333 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1165C>A (p.His389Asn) | single nucleotide variant | not provided [RCV001568657] | Chr15:25371009 [GRCh38] Chr15:25616156 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1609-57dup | duplication | not provided [RCV001534377] | Chr15:25360577..25360578 [GRCh38] Chr15:25605724..25605725 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.*12del | deletion | not provided [RCV001652662] | Chr15:25339125 [GRCh38] Chr15:25584272 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.305A>G (p.Asn102Ser) | single nucleotide variant | Angelman syndrome [RCV002568446]|not provided [RCV001568101] | Chr15:25375521 [GRCh38] Chr15:25620668 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1754-161G>C | single nucleotide variant | not provided [RCV001594556] | Chr15:25357057 [GRCh38] Chr15:25602204 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2281-40_2281-38del | microsatellite | not provided [RCV001677329] | Chr15:25354464..25354466 [GRCh38] Chr15:25599611..25599613 [GRCh37] Chr15:15q11.2 |
benign |
NM_003097.6(SNRPN):c.525G>A (p.Pro175=) | single nucleotide variant | not provided [RCV000911033] | Chr15:24977882 [GRCh38] Chr15:25223029 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.2281-9A>G | single nucleotide variant | Angelman syndrome [RCV001858577] | Chr15:25354435 [GRCh38] Chr15:25599582 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1770T>C (p.Asp590=) | single nucleotide variant | Angelman syndrome [RCV001437207] | Chr15:25356880 [GRCh38] Chr15:25602027 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_003097.6(SNRPN):c.363C>A (p.Pro121=) | single nucleotide variant | not provided [RCV000974123] | Chr15:24976972 [GRCh38] Chr15:25222119 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.1002G>A (p.Arg334=) | single nucleotide variant | Angelman syndrome [RCV001421637] | Chr15:25371172 [GRCh38] Chr15:25616319 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_003097.6(SNRPN):c.267T>C (p.Asp89=) | single nucleotide variant | not provided [RCV000898263] | Chr15:24976416 [GRCh38] Chr15:25221563 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.578C>G (p.Ala193Gly) | single nucleotide variant | Angelman syndrome [RCV001236585] | Chr15:25371596 [GRCh38] Chr15:25616743 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2124+6_2124+9del | deletion | Angelman syndrome [RCV001223325] | Chr15:25355883..25355886 [GRCh38] Chr15:25601030..25601033 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2279G>A (p.Arg760Gln) | single nucleotide variant | Angelman syndrome [RCV001202865] | Chr15:25354529 [GRCh38] Chr15:25599676 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.400C>A (p.Leu134Ile) | single nucleotide variant | Angelman syndrome [RCV001227497] | Chr15:25371774 [GRCh38] Chr15:25616921 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.172C>T (p.Leu58Phe) | single nucleotide variant | Angelman syndrome [RCV001206599] | Chr15:25375654 [GRCh38] Chr15:25620801 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2600_2604dup (p.Phe869fs) | duplication | Angelman syndrome [RCV001235083] | Chr15:25339151..25339152 [GRCh38] Chr15:25584298..25584299 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2517_2553dup (p.Lys852delinsLeuLeuTer) | duplication | Angelman syndrome [RCV000989270] | Chr15:25339202..25339203 [GRCh38] Chr15:25584349..25584350 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1405_1408del (p.Glu469fs) | deletion | Angelman syndrome [RCV000989274] | Chr15:25370766..25370769 [GRCh38] Chr15:25615913..25615916 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_003097.6(SNRPN):c.462T>A (p.Ala154=) | single nucleotide variant | not provided [RCV000913829] | Chr15:24977819 [GRCh38] Chr15:25222966 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.362-10G>T | single nucleotide variant | Angelman syndrome [RCV000957249] | Chr15:25371822 [GRCh38] Chr15:25616969 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.867G>A (p.Glu289=) | single nucleotide variant | Angelman syndrome [RCV002726266] | Chr15:25371307 [GRCh38] Chr15:25616454 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_003097.6(SNRPN):c.676G>C (p.Gly226Arg) | single nucleotide variant | not provided [RCV001732426] | Chr15:24978309 [GRCh38] Chr15:25223456 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.422A>G (p.Glu141Gly) | single nucleotide variant | not provided [RCV003231686] | Chr15:25371752 [GRCh38] Chr15:25616899 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.732_735del (p.Ser245fs) | microsatellite | See cases [RCV002253003] | Chr15:25371439..25371442 [GRCh38] Chr15:25616586..25616589 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1754-3T>C | single nucleotide variant | Angelman syndrome [RCV002032557]|not provided [RCV001546001] | Chr15:25356899 [GRCh38] Chr15:25602046 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_003097.6(SNRPN):c.259C>T (p.Pro87Ser) | single nucleotide variant | not provided [RCV002473426] | Chr15:24976408 [GRCh38] Chr15:25221555 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.-100-195A>G | single nucleotide variant | not provided [RCV001594557] | Chr15:25409402 [GRCh38] Chr15:25654549 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1415T>A (p.Phe472Tyr) | single nucleotide variant | not provided [RCV002464931] | Chr15:25370759 [GRCh38] Chr15:25615906 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.362A>G (p.Asp121Gly) | single nucleotide variant | not provided [RCV002469741] | Chr15:25371812 [GRCh38] Chr15:25616959 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2567_2568dup (p.Glu857fs) | duplication | not provided [RCV001008324] | Chr15:25339187..25339188 [GRCh38] Chr15:25584334..25584335 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.960A>G (p.Lys320=) | single nucleotide variant | not provided [RCV001619233] | Chr15:25371214 [GRCh38] Chr15:25616361 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.-100-317del | deletion | not provided [RCV001597866] | Chr15:25409524 [GRCh38] Chr15:25654671 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter) | single nucleotide variant | Angelman syndrome [RCV001071345]|not provided [RCV002051915] | Chr15:25371108 [GRCh38] Chr15:25616255 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2535_2544dup (p.Tyr849fs) | duplication | not provided [RCV001092398] | Chr15:25339211..25339212 [GRCh38] Chr15:25584358..25584359 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.343G>A (p.Ala115Thr) | single nucleotide variant | Angelman syndrome [RCV001048073] | Chr15:25375483 [GRCh38] Chr15:25620630 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2065A>G (p.Met689Val) | single nucleotide variant | not provided [RCV001575271] | Chr15:25355951 [GRCh38] Chr15:25601098 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2589C>A (p.Ile863=) | single nucleotide variant | not provided [RCV001588605] | Chr15:25339167 [GRCh38] Chr15:25584314 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.330G>C (p.Met110Ile) | single nucleotide variant | Angelman syndrome [RCV001049447] | Chr15:25375496 [GRCh38] Chr15:25620643 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.20+545G>A | single nucleotide variant | not provided [RCV001585050] | Chr15:25408543 [GRCh38] Chr15:25653690 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1131T>A (p.Tyr377Ter) | single nucleotide variant | Angelman syndrome [RCV001050018] | Chr15:25371043 [GRCh38] Chr15:25616190 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2547C>G (p.Tyr849Ter) | single nucleotide variant | Angelman syndrome [RCV001706787] | Chr15:25339209 [GRCh38] Chr15:25584356 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2378_2381del (p.Ser793fs) | microsatellite | Angelman syndrome [RCV001048607] | Chr15:25340202..25340205 [GRCh38] Chr15:25585349..25585352 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2273G>A (p.Gly758Glu) | single nucleotide variant | Angelman syndrome [RCV001004699] | Chr15:25354535 [GRCh38] Chr15:25599682 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1568A>G (p.Lys523Arg) | single nucleotide variant | Angelman syndrome [RCV001060776]|not provided [RCV002469336] | Chr15:25370606 [GRCh38] Chr15:25615753 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.295G>T (p.Gly99Cys) | single nucleotide variant | Angelman syndrome [RCV001216704]|not provided [RCV001586059] | Chr15:25375531 [GRCh38] Chr15:25620678 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.147G>T (p.Glu49Asp) | single nucleotide variant | Angelman syndrome [RCV001206328] | Chr15:25375679 [GRCh38] Chr15:25620826 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2355-3T>C | single nucleotide variant | Angelman syndrome [RCV001202492] | Chr15:25340231 [GRCh38] Chr15:25585378 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1067G>A (p.Arg356Gln) | single nucleotide variant | Angelman syndrome [RCV001064036] | Chr15:25371107 [GRCh38] Chr15:25616254 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.161G>A (p.Cys54Tyr) | single nucleotide variant | Angelman syndrome [RCV001040169]|not provided [RCV003235451] | Chr15:25375665 [GRCh38] Chr15:25620812 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.393del (p.Val130_Tyr131insTer) | deletion | not provided [RCV001008049] | Chr15:25371781 [GRCh38] Chr15:25616928 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1789dup (p.Trp597fs) | duplication | not provided [RCV001008254] | Chr15:25356860..25356861 [GRCh38] Chr15:25602007..25602008 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser) | single nucleotide variant | Angelman syndrome [RCV001054488]|not provided [RCV001585954] | Chr15:25371582 [GRCh38] Chr15:25616729 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.2344_2345del (p.Val782fs) | deletion | Angelman syndrome [RCV001203004] | Chr15:25354362..25354363 [GRCh38] Chr15:25599509..25599510 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1006A>C (p.Met336Leu) | single nucleotide variant | Angelman syndrome [RCV001063115]|not provided [RCV002051914] | Chr15:25371168 [GRCh38] Chr15:25616315 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2033A>G (p.Gln678Arg) | single nucleotide variant | Angelman syndrome [RCV001260931] | Chr15:25355983 [GRCh38] Chr15:25601130 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp) | single nucleotide variant | Angelman syndrome [RCV001264747] | Chr15:25356786 [GRCh38] Chr15:25601933 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2410C>T (p.Gln804Ter) | single nucleotide variant | Angelman syndrome [RCV001265637] | Chr15:25340173 [GRCh38] Chr15:25585320 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2508_2510dup (p.Ser837_His838insSer) | duplication | Angelman syndrome [RCV002280268] | Chr15:25339245..25339246 [GRCh38] Chr15:25584392..25584393 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2438C>T (p.Pro813Leu) | single nucleotide variant | not provided [RCV001311375] | Chr15:25340145 [GRCh38] Chr15:25585292 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1221G>A (p.Gln407=) | single nucleotide variant | Angelman syndrome [RCV001447789]|not provided [RCV001311378] | Chr15:25370953 [GRCh38] Chr15:25616100 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2483G>A (p.Gly828Asp) | single nucleotide variant | Intellectual disability [RCV001260778] | Chr15:25340100 [GRCh38] Chr15:25585247 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2446G>C (p.Gly816Arg) | single nucleotide variant | Inborn genetic diseases [RCV001266969] | Chr15:25340137 [GRCh38] Chr15:25585284 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.62+2dup | duplication | Intellectual disability [RCV001260838] | Chr15:25405458..25405459 [GRCh38] Chr15:25650605..25650606 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_003097.6(SNRPN):c.712C>T (p.Pro238Ser) | single nucleotide variant | not provided [RCV001765639] | Chr15:24978433 [GRCh38] Chr15:25223580 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.535C>T (p.Gln179Ter) | single nucleotide variant | not provided [RCV001268541] | Chr15:25371639 [GRCh38] Chr15:25616786 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2617_*12del (p.Ter873del) | deletion | not provided [RCV001268249] | Chr15:25339125..25339139 [GRCh38] Chr15:25584272..25584286 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1969C>T (p.Gln657Ter) | single nucleotide variant | not provided [RCV001268484] | Chr15:25356047 [GRCh38] Chr15:25601194 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_003097.6(SNRPN):c.515G>A (p.Arg172Gln) | single nucleotide variant | not provided [RCV001765821] | Chr15:24977872 [GRCh38] Chr15:25223019 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr) | single nucleotide variant | Intellectual disability [RCV001260797] | Chr15:25354553 [GRCh38] Chr15:25599700 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.1477G>A (p.Asp493Asn) | single nucleotide variant | Angelman syndrome [RCV001350813] | Chr15:25370697 [GRCh38] Chr15:25615844 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2263C>G (p.Leu755Val) | single nucleotide variant | Angelman syndrome [RCV001305337] | Chr15:25354545 [GRCh38] Chr15:25599692 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2498+3A>G | single nucleotide variant | Angelman syndrome [RCV001317949] | Chr15:25340082 [GRCh38] Chr15:25585229 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1402del (p.Thr468fs) | deletion | Angelman syndrome [RCV001334474] | Chr15:25370772 [GRCh38] Chr15:25615919 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1764A>T (p.Thr588=) | single nucleotide variant | Angelman syndrome [RCV001422947] | Chr15:25356886 [GRCh38] Chr15:25602033 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.618A>G (p.Ala206=) | single nucleotide variant | Angelman syndrome [RCV001397647] | Chr15:25371556 [GRCh38] Chr15:25616703 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1937G>T (p.Arg646Leu) | single nucleotide variant | Angelman syndrome [RCV001305075] | Chr15:25356713 [GRCh38] Chr15:25601860 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1830T>C (p.Thr610=) | single nucleotide variant | Angelman syndrome [RCV001414745] | Chr15:25356820 [GRCh38] Chr15:25601967 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2155C>T (p.Leu719Phe) | single nucleotide variant | not provided [RCV001311376] | Chr15:25354653 [GRCh38] Chr15:25599800 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2147A>T (p.Asp716Val) | single nucleotide variant | not provided [RCV001311377] | Chr15:25354661 [GRCh38] Chr15:25599808 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2421G>A (p.Thr807=) | single nucleotide variant | Angelman syndrome [RCV001309466] | Chr15:25340162 [GRCh38] Chr15:25585309 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.63-68_63-66del | microsatellite | not provided [RCV000832469] | Chr15:25375829..25375831 [GRCh38] Chr15:25620976..25620978 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.131A>C (p.Glu44Ala) | single nucleotide variant | Angelman syndrome [RCV001307559] | Chr15:25375695 [GRCh38] Chr15:25620842 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.62+289_62+293del | microsatellite | not provided [RCV000827954] | Chr15:25405168..25405172 [GRCh38] Chr15:25650315..25650319 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.580G>C (p.Ala194Pro) | single nucleotide variant | Angelman syndrome [RCV001324181] | Chr15:25371594 [GRCh38] Chr15:25616741 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2416A>G (p.Thr806Ala) | single nucleotide variant | Angelman syndrome [RCV001347148] | Chr15:25340167 [GRCh38] Chr15:25585314 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.511A>T (p.Thr171Ser) | single nucleotide variant | Angelman syndrome [RCV001338171]|not provided [RCV003314688] | Chr15:25371663 [GRCh38] Chr15:25616810 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.835A>G (p.Asn279Asp) | single nucleotide variant | Angelman syndrome [RCV001308824] | Chr15:25371339 [GRCh38] Chr15:25616486 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1153G>T (p.Val385Leu) | single nucleotide variant | Angelman syndrome [RCV001317929]|not provided [RCV001567021] | Chr15:25371021 [GRCh38] Chr15:25616168 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2181C>G (p.Phe727Leu) | single nucleotide variant | Angelman syndrome [RCV001341393] | Chr15:25354627 [GRCh38] Chr15:25599774 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.853A>G (p.Ile285Val) | single nucleotide variant | Angelman syndrome [RCV001306219] | Chr15:25371321 [GRCh38] Chr15:25616468 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1936C>A (p.Arg646Ser) | single nucleotide variant | Angelman syndrome [RCV001319675] | Chr15:25356714 [GRCh38] Chr15:25601861 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.361+6A>G | single nucleotide variant | Angelman syndrome [RCV001368621] | Chr15:25375459 [GRCh38] Chr15:25620606 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.-164-3898dup | duplication | not provided [RCV001356808] | Chr15:25415849..25415850 [GRCh38] Chr15:25660996..25660997 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.270C>T (p.Ser90=) | single nucleotide variant | Angelman syndrome [RCV001414222] | Chr15:25375556 [GRCh38] Chr15:25620703 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.444T>G (p.Arg148=) | single nucleotide variant | Angelman syndrome [RCV001395672] | Chr15:25371730 [GRCh38] Chr15:25616877 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.790G>A (p.Val264Met) | single nucleotide variant | Angelman syndrome [RCV001339093] | Chr15:25371384 [GRCh38] Chr15:25616531 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.87A>G (p.Leu29=) | single nucleotide variant | Angelman syndrome [RCV001464838] | Chr15:25375739 [GRCh38] Chr15:25620886 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.238T>C (p.Cys80Arg) | single nucleotide variant | Angelman syndrome [RCV001377695] | Chr15:25375588 [GRCh38] Chr15:25620735 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1800A>G (p.Pro600=) | single nucleotide variant | Angelman syndrome [RCV001479450] | Chr15:25356850 [GRCh38] Chr15:25601997 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2423G>A (p.Gly808Asp) | single nucleotide variant | Angelman syndrome [RCV001379188] | Chr15:25340160 [GRCh38] Chr15:25585307 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1719G>A (p.Gln573=) | single nucleotide variant | Angelman syndrome [RCV001474465] | Chr15:25360417 [GRCh38] Chr15:25605564 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.858C>T (p.Ile286=) | single nucleotide variant | Angelman syndrome [RCV001442514]|not provided [RCV001712901] | Chr15:25371316 [GRCh38] Chr15:25616463 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.861A>G (p.Val287=) | single nucleotide variant | Angelman syndrome [RCV001463416] | Chr15:25371313 [GRCh38] Chr15:25616460 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.20+251T>C | single nucleotide variant | not provided [RCV001643484] | Chr15:25408837 [GRCh38] Chr15:25653984 [GRCh37] Chr15:15q11.2 |
benign |
NC_000015.10:g.22804175_30375696dup | duplication | 15q11q13 microduplication syndrome [RCV001420629] | Chr15:22804175..30375696 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
NM_130839.5(UBE3A):c.62+9A>G | single nucleotide variant | Angelman syndrome [RCV001407486] | Chr15:25405452 [GRCh38] Chr15:25650599 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2125-259_2125-257del | microsatellite | not provided [RCV001541342] | Chr15:25354940..25354942 [GRCh38] Chr15:25600087..25600089 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.961C>T (p.Leu321=) | single nucleotide variant | Angelman syndrome [RCV001431320] | Chr15:25371213 [GRCh38] Chr15:25616360 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.459T>G (p.Val153=) | single nucleotide variant | Angelman syndrome [RCV001411072] | Chr15:25371715 [GRCh38] Chr15:25616862 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.807G>A (p.Thr269=) | single nucleotide variant | Angelman syndrome [RCV001445583] | Chr15:25371367 [GRCh38] Chr15:25616514 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.*23C>A | single nucleotide variant | not provided [RCV001717101] | Chr15:25339114 [GRCh38] Chr15:25584261 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.660T>C (p.Asn220=) | single nucleotide variant | Angelman syndrome [RCV001454064] | Chr15:25371514 [GRCh38] Chr15:25616661 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.587C>T (p.Ser196Phe) | single nucleotide variant | not provided [RCV001590597] | Chr15:25371587 [GRCh38] Chr15:25616734 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2124+9_2124+10insTT | insertion | Angelman syndrome [RCV001458549] | Chr15:25355882..25355883 [GRCh38] Chr15:25601029..25601030 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1347A>G (p.Glu449=) | single nucleotide variant | Angelman syndrome [RCV001473601] | Chr15:25370827 [GRCh38] Chr15:25615974 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1608+304C>G | single nucleotide variant | not provided [RCV001582277] | Chr15:25370262 [GRCh38] Chr15:25615409 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1248C>T (p.Asn416=) | single nucleotide variant | Angelman syndrome [RCV001458986] | Chr15:25370926 [GRCh38] Chr15:25616073 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.-100-312C>T | single nucleotide variant | not provided [RCV001536415] | Chr15:25409519 [GRCh38] Chr15:25654666 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.*22_*35del | deletion | not provided [RCV001589989] | Chr15:25339102..25339115 [GRCh38] Chr15:25584249..25584262 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.858C>A (p.Ile286=) | single nucleotide variant | not provided [RCV001716640] | Chr15:25371316 [GRCh38] Chr15:25616463 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.2313A>G (p.Thr771=) | single nucleotide variant | Angelman syndrome [RCV001440187] | Chr15:25354394 [GRCh38] Chr15:25599541 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1860T>A (p.Ile620=) | single nucleotide variant | Angelman syndrome [RCV001502505] | Chr15:25356790 [GRCh38] Chr15:25601937 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.303C>T (p.Pro101=) | single nucleotide variant | Angelman syndrome [RCV001423941] | Chr15:25375523 [GRCh38] Chr15:25620670 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2515_2531dup (p.Leu846fs) | duplication | Angelman syndrome [RCV001386580] | Chr15:25339224..25339225 [GRCh38] Chr15:25584371..25584372 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.235C>T (p.Leu79Phe) | single nucleotide variant | not provided [RCV001508748] | Chr15:25375591 [GRCh38] Chr15:25620738 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1596T>C (p.Asp532=) | single nucleotide variant | Angelman syndrome [RCV001455071] | Chr15:25370578 [GRCh38] Chr15:25615725 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.81G>A (p.Lys27=) | single nucleotide variant | Angelman syndrome [RCV001399448] | Chr15:25375745 [GRCh38] Chr15:25620892 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1960G>C (p.Val654Leu) | single nucleotide variant | Angelman syndrome [RCV001726508] | Chr15:25356056 [GRCh38] Chr15:25601203 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.940C>A (p.Pro314Thr) | single nucleotide variant | not provided [RCV003127010] | Chr15:25371234 [GRCh38] Chr15:25616381 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2035A>G (p.Ile679Val) | single nucleotide variant | not provided [RCV003127068] | Chr15:25355981 [GRCh38] Chr15:25601128 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1325C>T (p.Pro442Leu) | single nucleotide variant | not provided [RCV001756455] | Chr15:25370849 [GRCh38] Chr15:25615996 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.357T>G (p.Phe119Leu) | single nucleotide variant | not provided [RCV001754786] | Chr15:25375469 [GRCh38] Chr15:25620616 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1059T>G (p.Phe353Leu) | single nucleotide variant | not provided [RCV001760782] | Chr15:25371115 [GRCh38] Chr15:25616262 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.654CAA[1] (p.Asn220del) | microsatellite | Angelman syndrome [RCV001882886]|not provided [RCV001763526] | Chr15:25371515..25371517 [GRCh38] Chr15:25616662..25616664 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.943C>T (p.Leu315Phe) | single nucleotide variant | not provided [RCV001756963] | Chr15:25371231 [GRCh38] Chr15:25616378 [GRCh37] Chr15:15q11.2 |
uncertain significance |
Single allele | duplication | 15q11q13 microduplication syndrome [RCV002280354] | Chr15:22810652..29822566 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
NM_130839.5(UBE3A):c.1801T>A (p.Ser601Thr) | single nucleotide variant | See cases [RCV002253131] | Chr15:25356849 [GRCh38] Chr15:25601996 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1972A>C (p.Ser658Arg) | single nucleotide variant | not provided [RCV001751857] | Chr15:25356044 [GRCh38] Chr15:25601191 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1682G>A (p.Gly561Glu) | single nucleotide variant | Angelman syndrome [RCV001788548] | Chr15:25360454 [GRCh38] Chr15:25605601 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1708G>C (p.Glu570Gln) | single nucleotide variant | not provided [RCV001764024] | Chr15:25360428 [GRCh38] Chr15:25605575 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1277A>C (p.Glu426Ala) | single nucleotide variant | not provided [RCV001754417] | Chr15:25370897 [GRCh38] Chr15:25616044 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1704C>T (p.Ser568=) | single nucleotide variant | not provided [RCV001768800] | Chr15:25360432 [GRCh38] Chr15:25605579 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.20+465G>A | single nucleotide variant | Angelman syndrome [RCV001775356] | Chr15:25408623 [GRCh38] Chr15:25653770 [GRCh37] Chr15:15q11.2 |
likely pathogenic|likely benign |
NM_130839.5(UBE3A):c.2357A>C (p.Glu786Ala) | single nucleotide variant | not provided [RCV001799978] | Chr15:25340226 [GRCh38] Chr15:25585373 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_003097.6(SNRPN):c.293C>A (p.Ala98Asp) | single nucleotide variant | not provided [RCV001761153] | Chr15:24976902 [GRCh38] Chr15:25222049 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.676C>T (p.Pro226Ser) | single nucleotide variant | not provided [RCV001765227] | Chr15:25371498 [GRCh38] Chr15:25616645 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1192A>G (p.Ile398Val) | single nucleotide variant | Angelman syndrome [RCV002540285]|not provided [RCV001770846] | Chr15:25370982 [GRCh38] Chr15:25616129 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1933T>G (p.Phe645Val) | single nucleotide variant | not provided [RCV001765701] | Chr15:25356717 [GRCh38] Chr15:25601864 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1207G>A (p.Glu403Lys) | single nucleotide variant | not provided [RCV001771242] | Chr15:25370967 [GRCh38] Chr15:25616114 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.211G>A (p.Glu71Lys) | single nucleotide variant | not provided [RCV001787605] | Chr15:25375615 [GRCh38] Chr15:25620762 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.-164-5870T>G | single nucleotide variant | not provided [RCV001786974] | Chr15:25417841 [GRCh38] Chr15:25662988 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.-164-969dup | duplication | not provided [RCV001786920] | Chr15:25412939..25412940 [GRCh38] Chr15:25658086..25658087 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_003097.6(SNRPN):c.260C>T (p.Pro87Leu) | single nucleotide variant | not provided [RCV001733006] | Chr15:24976409 [GRCh38] Chr15:25221556 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_003097.6(SNRPN):c.182G>A (p.Arg61His) | single nucleotide variant | not provided [RCV001763399] | Chr15:24976331 [GRCh38] Chr15:25221478 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.248A>G (p.His83Arg) | single nucleotide variant | not provided [RCV001787676] | Chr15:25375578 [GRCh38] Chr15:25620725 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2238_2240del (p.Leu746del) | deletion | Angelman syndrome [RCV001861062]|not provided [RCV001758157] | Chr15:25354568..25354570 [GRCh38] Chr15:25599715..25599717 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.91G>A (p.Glu31Lys) | single nucleotide variant | not provided [RCV001758276] | Chr15:25375735 [GRCh38] Chr15:25620882 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.307A>G (p.Asn103Asp) | single nucleotide variant | not provided [RCV001758759] | Chr15:25375519 [GRCh38] Chr15:25620666 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2376T>C (p.His792=) | single nucleotide variant | not provided [RCV003394272]|not specified [RCV001819178] | Chr15:25340207 [GRCh38] Chr15:25585354 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.*80_*83dup | duplication | Angelman syndrome [RCV000008436] | Chr15:25339053..25339054 [GRCh38] Chr15:25584200..25584201 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1687G>T (p.Asp563Tyr) | single nucleotide variant | not specified [RCV001817911] | Chr15:25360449 [GRCh38] Chr15:25605596 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1675G>C (p.Glu559Gln) | single nucleotide variant | Angelman syndrome [RCV003155432]|not specified [RCV001817912] | Chr15:25360461 [GRCh38] Chr15:25605608 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2471T>A (p.Ile824Lys) | single nucleotide variant | Angelman syndrome [RCV001802619] | Chr15:25340112 [GRCh38] Chr15:25585259 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.1937G>A (p.Arg646His) | single nucleotide variant | Angelman syndrome [RCV001874671]|Inborn genetic diseases [RCV002406966]|not provided [RCV003314700] | Chr15:25356713 [GRCh38] Chr15:25601860 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NC_000015.10:g.23370759_30529376del | deletion | Angelman syndrome [RCV001839262] | Chr15:23370759..30529376 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
NM_130839.5(UBE3A):c.1310G>A (p.Arg437Gln) | single nucleotide variant | Angelman syndrome [RCV001915445]|not provided [RCV003151868] | Chr15:25370864 [GRCh38] Chr15:25616011 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.641G>T (p.Ser214Ile) | single nucleotide variant | Angelman syndrome [RCV002022157] | Chr15:25371533 [GRCh38] Chr15:25616680 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2114A>G (p.Glu705Gly) | single nucleotide variant | Angelman syndrome [RCV002024811] | Chr15:25355902 [GRCh38] Chr15:25601049 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.393T>A (p.Tyr131Ter) | single nucleotide variant | Angelman syndrome [RCV002002385] | Chr15:25371781 [GRCh38] Chr15:25616928 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.299C>T (p.Ala100Val) | single nucleotide variant | Angelman syndrome [RCV001910408] | Chr15:25375527 [GRCh38] Chr15:25620674 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1157A>G (p.Asp386Gly) | single nucleotide variant | Angelman syndrome [RCV002024441] | Chr15:25371017 [GRCh38] Chr15:25616164 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.171del (p.Leu58fs) | deletion | Angelman syndrome [RCV001864353] | Chr15:25375655 [GRCh38] Chr15:25620802 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2396A>C (p.Lys799Thr) | single nucleotide variant | Developmental disorder [RCV001843751] | Chr15:25340187 [GRCh38] Chr15:25585334 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.680ATG[1] (p.Asp228del) | microsatellite | Angelman syndrome [RCV001912642] | Chr15:25371489..25371491 [GRCh38] Chr15:25616636..25616638 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2162_2166dup (p.Val723fs) | duplication | Angelman syndrome [RCV001785106] | Chr15:25354641..25354642 [GRCh38] Chr15:25599788..25599789 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1858A>G (p.Ile620Val) | single nucleotide variant | Angelman syndrome [RCV001908581] | Chr15:25356792 [GRCh38] Chr15:25601939 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.171T>A (p.Phe57Leu) | single nucleotide variant | Angelman syndrome [RCV001912187] | Chr15:25375655 [GRCh38] Chr15:25620802 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.247C>T (p.His83Tyr) | single nucleotide variant | Angelman syndrome [RCV002005694]|not provided [RCV003313257] | Chr15:25375579 [GRCh38] Chr15:25620726 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2286_2291dup (p.Leu762_Asp763dup) | duplication | Angelman syndrome [RCV001872968] | Chr15:25354415..25354416 [GRCh38] Chr15:25599562..25599563 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.574A>G (p.Lys192Glu) | single nucleotide variant | Angelman syndrome [RCV001927857] | Chr15:25371600 [GRCh38] Chr15:25616747 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2498+2T>C | single nucleotide variant | Angelman syndrome [RCV001926484] | Chr15:25340083 [GRCh38] Chr15:25585230 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1474T>C (p.Tyr492His) | single nucleotide variant | not provided [RCV001840865] | Chr15:25370700 [GRCh38] Chr15:25615847 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2224C>T (p.Pro742Ser) | single nucleotide variant | Angelman syndrome [RCV002021426] | Chr15:25354584 [GRCh38] Chr15:25599731 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.290C>G (p.Ser97Trp) | single nucleotide variant | Angelman syndrome [RCV001893307] | Chr15:25375536 [GRCh38] Chr15:25620683 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1894A>G (p.Met632Val) | single nucleotide variant | Angelman syndrome [RCV002040348] | Chr15:25356756 [GRCh38] Chr15:25601903 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.178A>G (p.Met60Val) | single nucleotide variant | Angelman syndrome [RCV002020905] | Chr15:25375648 [GRCh38] Chr15:25620795 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1609-10C>T | single nucleotide variant | Angelman syndrome [RCV001885574] | Chr15:25360537 [GRCh38] Chr15:25605684 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2216A>G (p.Asn739Ser) | single nucleotide variant | Angelman syndrome [RCV001943158] | Chr15:25354592 [GRCh38] Chr15:25599739 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1160C>T (p.Thr387Ile) | single nucleotide variant | Angelman syndrome [RCV001944683] | Chr15:25371014 [GRCh38] Chr15:25616161 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.275C>T (p.Ala92Val) | single nucleotide variant | Angelman syndrome [RCV001898026] | Chr15:25375551 [GRCh38] Chr15:25620698 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.296G>A (p.Gly99Asp) | single nucleotide variant | Angelman syndrome [RCV001959883] | Chr15:25375530 [GRCh38] Chr15:25620677 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1206C>T (p.Ser402=) | single nucleotide variant | Angelman syndrome [RCV001886897]|Inborn genetic diseases [RCV002458734] | Chr15:25370968 [GRCh38] Chr15:25616115 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.1147G>A (p.Gly383Arg) | single nucleotide variant | Angelman syndrome [RCV001906125] | Chr15:25371027 [GRCh38] Chr15:25616174 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1168A>G (p.Asn390Asp) | single nucleotide variant | Angelman syndrome [RCV002001042] | Chr15:25371006 [GRCh38] Chr15:25616153 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2239T>G (p.Phe747Val) | single nucleotide variant | Angelman syndrome [RCV001905317] | Chr15:25354569 [GRCh38] Chr15:25599716 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.443G>A (p.Arg148His) | single nucleotide variant | Angelman syndrome [RCV001887981] | Chr15:25371731 [GRCh38] Chr15:25616878 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1285C>G (p.Leu429Val) | single nucleotide variant | Angelman syndrome [RCV001875345] | Chr15:25370889 [GRCh38] Chr15:25616036 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.454A>G (p.Arg152Gly) | single nucleotide variant | Angelman syndrome [RCV002013972] | Chr15:25371720 [GRCh38] Chr15:25616867 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1651C>A (p.Gln551Lys) | single nucleotide variant | Angelman syndrome [RCV001902924] | Chr15:25360485 [GRCh38] Chr15:25605632 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2430_2433dup (p.Ala812fs) | microsatellite | Angelman syndrome [RCV001933306] | Chr15:25340149..25340150 [GRCh38] Chr15:25585296..25585297 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2354+6G>A | single nucleotide variant | Angelman syndrome [RCV001951792] | Chr15:25354347 [GRCh38] Chr15:25599494 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2124+1G>T | single nucleotide variant | Angelman syndrome [RCV001990284] | Chr15:25355891 [GRCh38] Chr15:25601038 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.819A>G (p.Val273=) | single nucleotide variant | Angelman syndrome [RCV001953480]|not provided [RCV003395321] | Chr15:25371355 [GRCh38] Chr15:25616502 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.745A>G (p.Ile249Val) | single nucleotide variant | Angelman syndrome [RCV001937454] | Chr15:25371429 [GRCh38] Chr15:25616576 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2265_2267dup (p.Ile756dup) | duplication | Angelman syndrome [RCV001994246] | Chr15:25354540..25354541 [GRCh38] Chr15:25599687..25599688 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2239T>C (p.Phe747Leu) | single nucleotide variant | Angelman syndrome [RCV001918530] | Chr15:25354569 [GRCh38] Chr15:25599716 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2104A>G (p.Ile702Val) | single nucleotide variant | Angelman syndrome [RCV001921267] | Chr15:25355912 [GRCh38] Chr15:25601059 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1607G>A (p.Arg536Gln) | single nucleotide variant | Angelman syndrome [RCV002035086] | Chr15:25370567 [GRCh38] Chr15:25615714 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1786T>G (p.Phe596Val) | single nucleotide variant | Angelman syndrome [RCV001918406]|UBE3A-related condition [RCV003401868] | Chr15:25356864 [GRCh38] Chr15:25602011 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1625T>G (p.Met542Arg) | single nucleotide variant | Angelman syndrome [RCV001975520] | Chr15:25360511 [GRCh38] Chr15:25605658 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.730C>T (p.Leu244Phe) | single nucleotide variant | Angelman syndrome [RCV001884391] | Chr15:25371444 [GRCh38] Chr15:25616591 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2385del (p.Asp796fs) | deletion | Angelman syndrome [RCV001931349] | Chr15:25340198 [GRCh38] Chr15:25585345 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.361+16T>A | single nucleotide variant | Angelman syndrome [RCV002111752] | Chr15:25375449 [GRCh38] Chr15:25620596 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1767del (p.Thr588_Tyr589insTer) | deletion | not provided [RCV002224470] | Chr15:25356883 [GRCh38] Chr15:25602030 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.62+7G>A | single nucleotide variant | Angelman syndrome [RCV002110297] | Chr15:25405454 [GRCh38] Chr15:25650601 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2483G>T (p.Gly828Val) | single nucleotide variant | not provided [RCV002211284] | Chr15:25340100 [GRCh38] Chr15:25585247 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2406C>A (p.Phe802Leu) | single nucleotide variant | not provided [RCV002211285] | Chr15:25340177 [GRCh38] Chr15:25585324 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2280+18T>G | single nucleotide variant | Angelman syndrome [RCV002092099] | Chr15:25354510 [GRCh38] Chr15:25599657 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.828A>G (p.Arg276=) | single nucleotide variant | Angelman syndrome [RCV002085948] | Chr15:25371346 [GRCh38] Chr15:25616493 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2354+13del | deletion | Angelman syndrome [RCV002174190] | Chr15:25354340 [GRCh38] Chr15:25599487 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.189T>C (p.Asn63=) | single nucleotide variant | Angelman syndrome [RCV002113182] | Chr15:25375637 [GRCh38] Chr15:25620784 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.927G>T (p.Ala309=) | single nucleotide variant | Angelman syndrome [RCV002197257] | Chr15:25371247 [GRCh38] Chr15:25616394 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1566C>T (p.Leu522=) | single nucleotide variant | Angelman syndrome [RCV002129325] | Chr15:25370608 [GRCh38] Chr15:25615755 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1753+1121C>A | single nucleotide variant | not provided [RCV002211286] | Chr15:25359262 [GRCh38] Chr15:25604409 [GRCh37] Chr15:15q11.2 |
benign|likely benign |
NM_130839.5(UBE3A):c.2145T>C (p.Ser715=) | single nucleotide variant | Angelman syndrome [RCV002187401] | Chr15:25354663 [GRCh38] Chr15:25599810 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.345T>G (p.Ala115=) | single nucleotide variant | Angelman syndrome [RCV002096997] | Chr15:25375481 [GRCh38] Chr15:25620628 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1086T>C (p.Asp362=) | single nucleotide variant | Angelman syndrome [RCV002080407] | Chr15:25371088 [GRCh38] Chr15:25616235 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1161A>T (p.Thr387=) | single nucleotide variant | Angelman syndrome [RCV002089956] | Chr15:25371013 [GRCh38] Chr15:25616160 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2499-19dup | duplication | Angelman syndrome [RCV002175059] | Chr15:25339275..25339276 [GRCh38] Chr15:25584422..25584423 [GRCh37] Chr15:15q11.2 |
benign |
NM_130839.5(UBE3A):c.108G>A (p.Gln36=) | single nucleotide variant | Angelman syndrome [RCV002175102] | Chr15:25375718 [GRCh38] Chr15:25620865 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1959+15A>G | single nucleotide variant | Angelman syndrome [RCV002093340] | Chr15:25356676 [GRCh38] Chr15:25601823 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1305T>C (p.Asp435=) | single nucleotide variant | Angelman syndrome [RCV002150070] | Chr15:25370869 [GRCh38] Chr15:25616016 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2499-6A>G | single nucleotide variant | Angelman syndrome [RCV002170356] | Chr15:25339263 [GRCh38] Chr15:25584410 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.705C>G (p.Ala235=) | single nucleotide variant | Angelman syndrome [RCV002125189] | Chr15:25371469 [GRCh38] Chr15:25616616 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2614C>T (p.Leu872=) | single nucleotide variant | Angelman syndrome [RCV002077678] | Chr15:25339142 [GRCh38] Chr15:25584289 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1809T>C (p.Phe603=) | single nucleotide variant | Angelman syndrome [RCV002205635] | Chr15:25356841 [GRCh38] Chr15:25601988 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2354+12A>G | single nucleotide variant | Angelman syndrome [RCV002187618] | Chr15:25354341 [GRCh38] Chr15:25599488 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1884A>C (p.Val628=) | single nucleotide variant | Angelman syndrome [RCV002194367] | Chr15:25356766 [GRCh38] Chr15:25601913 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1539A>G (p.Gly513=) | single nucleotide variant | Angelman syndrome [RCV002213444] | Chr15:25370635 [GRCh38] Chr15:25615782 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2499-10C>T | single nucleotide variant | Angelman syndrome [RCV002148670] | Chr15:25339267 [GRCh38] Chr15:25584414 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2163A>G (p.Lys721=) | single nucleotide variant | Angelman syndrome [RCV002153440] | Chr15:25354645 [GRCh38] Chr15:25599792 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1014G>A (p.Glu338=) | single nucleotide variant | Angelman syndrome [RCV002121031] | Chr15:25371160 [GRCh38] Chr15:25616307 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2124+10G>A | single nucleotide variant | Angelman syndrome [RCV002177949] | Chr15:25355882 [GRCh38] Chr15:25601029 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2354+16C>T | single nucleotide variant | Angelman syndrome [RCV002176236] | Chr15:25354337 [GRCh38] Chr15:25599484 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.356T>G (p.Phe119Cys) | single nucleotide variant | Inborn genetic diseases [RCV003093863]|not provided [RCV002222769] | Chr15:25375470 [GRCh38] Chr15:25620617 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1594G>T (p.Asp532Tyr) | single nucleotide variant | Angelman syndrome [RCV002226830] | Chr15:25370580 [GRCh38] Chr15:25615727 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.834T>C (p.Pro278=) | single nucleotide variant | Angelman syndrome [RCV002183302] | Chr15:25371340 [GRCh38] Chr15:25616487 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.768A>G (p.Ala256=) | single nucleotide variant | Angelman syndrome [RCV002143611] | Chr15:25371406 [GRCh38] Chr15:25616553 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1753+8C>T | single nucleotide variant | Angelman syndrome [RCV002202891] | Chr15:25360375 [GRCh38] Chr15:25605522 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1134A>G (p.Ala378=) | single nucleotide variant | Angelman syndrome [RCV002135678] | Chr15:25371040 [GRCh38] Chr15:25616187 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2508A>C (p.Thr836=) | single nucleotide variant | Angelman syndrome [RCV002136617] | Chr15:25339248 [GRCh38] Chr15:25584395 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.477A>G (p.Ala159=) | single nucleotide variant | Angelman syndrome [RCV002158061] | Chr15:25371697 [GRCh38] Chr15:25616844 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2124+13T>G | single nucleotide variant | Angelman syndrome [RCV002102372] | Chr15:25355879 [GRCh38] Chr15:25601026 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.210C>T (p.Leu70=) | single nucleotide variant | Angelman syndrome [RCV002156967] | Chr15:25375616 [GRCh38] Chr15:25620763 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2125-20G>A | single nucleotide variant | Angelman syndrome [RCV002202391] | Chr15:25354703 [GRCh38] Chr15:25599850 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2247A>G (p.Pro749=) | single nucleotide variant | Angelman syndrome [RCV002155146] | Chr15:25354561 [GRCh38] Chr15:25599708 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1040A>C (p.Lys347Thr) | single nucleotide variant | not provided [RCV003156655] | Chr15:25371134 [GRCh38] Chr15:25616281 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1820del (p.Gly607fs) | deletion | Angelman syndrome [RCV003152877] | Chr15:25356830 [GRCh38] Chr15:25601977 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2498+1G>A | single nucleotide variant | Angelman syndrome [RCV002246802] | Chr15:25340084 [GRCh38] Chr15:25585231 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.419G>A (p.Arg140Lys) | single nucleotide variant | not provided [RCV002288220] | Chr15:25371755 [GRCh38] Chr15:25616902 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1289G>T (p.Gly430Val) | single nucleotide variant | Angelman syndrome [RCV003096190]|not provided [RCV002276279] | Chr15:25370885 [GRCh38] Chr15:25616032 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.650G>C (p.Gly217Ala) | single nucleotide variant | not provided [RCV002276297] | Chr15:25371524 [GRCh38] Chr15:25616671 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.283G>C (p.Glu95Gln) | single nucleotide variant | not provided [RCV002287041] | Chr15:25375543 [GRCh38] Chr15:25620690 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1704del (p.Glu570fs) | deletion | Angelman syndrome [RCV002287308] | Chr15:25360432 [GRCh38] Chr15:25605579 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2510C>T (p.Ser837Phe) | single nucleotide variant | Angelman syndrome [RCV002288385] | Chr15:25339246 [GRCh38] Chr15:25584393 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_003097.6(SNRPN):c.481A>G (p.Ile161Val) | single nucleotide variant | not provided [RCV002269574] | Chr15:24977838 [GRCh38] Chr15:25222985 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1204A>C (p.Ser402Arg) | single nucleotide variant | not provided [RCV003234438] | Chr15:25370970 [GRCh38] Chr15:25616117 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.422A>T (p.Glu141Val) | single nucleotide variant | Angelman syndrome [RCV002266676] | Chr15:25371752 [GRCh38] Chr15:25616899 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1838G>T (p.Gly613Val) | single nucleotide variant | Angelman syndrome [RCV002283872] | Chr15:25356812 [GRCh38] Chr15:25601959 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1318_1321delinsATAAAC (p.Leu440fs) | indel | Inborn genetic diseases [RCV002421440] | Chr15:25370853..25370856 [GRCh38] Chr15:25616000..25616003 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.677C>G (p.Pro226Arg) | single nucleotide variant | not provided [RCV003152125] | Chr15:25371497 [GRCh38] Chr15:25616644 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2458_2461dup (p.Lys821fs) | duplication | Angelman syndrome [RCV002466383] | Chr15:25340121..25340122 [GRCh38] Chr15:25585268..25585269 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2295A>G (p.Gln765=) | single nucleotide variant | Angelman syndrome [RCV002727004] | Chr15:25354412 [GRCh38] Chr15:25599559 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_003097.6(SNRPN):c.66A>C (p.Gln22His) | single nucleotide variant | not provided [RCV002467081] | Chr15:24975420 [GRCh38] Chr15:25220567 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1435T>A (p.Phe479Ile) | single nucleotide variant | Angelman syndrome [RCV002304717] | Chr15:25370739 [GRCh38] Chr15:25615886 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1322T>G (p.Ile441Ser) | single nucleotide variant | Inborn genetic diseases [RCV002447586] | Chr15:25370852 [GRCh38] Chr15:25615999 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2169A>G (p.Val723=) | single nucleotide variant | Inborn genetic diseases [RCV002424333] | Chr15:25354639 [GRCh38] Chr15:25599786 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1983T>C (p.Asp661=) | single nucleotide variant | Angelman syndrome [RCV003100937]|Inborn genetic diseases [RCV002410768] | Chr15:25356033 [GRCh38] Chr15:25601180 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2516C>T (p.Thr839Ile) | single nucleotide variant | Inborn genetic diseases [RCV002455455] | Chr15:25339240 [GRCh38] Chr15:25584387 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.886C>G (p.Pro296Ala) | single nucleotide variant | Inborn genetic diseases [RCV002430212] | Chr15:25371288 [GRCh38] Chr15:25616435 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1199A>T (p.Glu400Val) | single nucleotide variant | Angelman syndrome [RCV002299599] | Chr15:25370975 [GRCh38] Chr15:25616122 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.855_857dup (p.Ile286_Val287insIle) | duplication | Angelman syndrome [RCV002510695] | Chr15:25371316..25371317 [GRCh38] Chr15:25616463..25616464 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1173AGA[1] (p.Glu392del) | microsatellite | Angelman syndrome [RCV003015067] | Chr15:25370996..25370998 [GRCh38] Chr15:25616143..25616145 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.301C>T (p.Pro101Ser) | single nucleotide variant | Angelman syndrome [RCV002731214] | Chr15:25375525 [GRCh38] Chr15:25620672 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.977C>G (p.Ser326Cys) | single nucleotide variant | Inborn genetic diseases [RCV002883972] | Chr15:25371197 [GRCh38] Chr15:25616344 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2343T>C (p.Ser781=) | single nucleotide variant | Angelman syndrome [RCV002880433] | Chr15:25354364 [GRCh38] Chr15:25599511 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_022807.5(SNRPN):c.-390-9497_-390-228del | deletion | Prader-Willi syndrome [RCV002512190] | Chr15:24952617..24961886 [GRCh38] Chr15:25197764..25207033 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_001394334.1(SNURF):c.129G>C (p.Arg43Ser) | single nucleotide variant | Inborn genetic diseases [RCV002749272] | Chr15:24967950 [GRCh38] Chr15:25213097 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1906A>G (p.Arg636Gly) | single nucleotide variant | not provided [RCV002462763] | Chr15:25356744 [GRCh38] Chr15:25601891 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1959+14C>T | single nucleotide variant | Angelman syndrome [RCV002842763] | Chr15:25356677 [GRCh38] Chr15:25601824 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1255G>A (p.Gly419Ser) | single nucleotide variant | Angelman syndrome [RCV002996858] | Chr15:25370919 [GRCh38] Chr15:25616066 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1497C>T (p.Tyr499=) | single nucleotide variant | Angelman syndrome [RCV003097585] | Chr15:25370677 [GRCh38] Chr15:25615824 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2055T>C (p.Phe685=) | single nucleotide variant | Angelman syndrome [RCV003021761] | Chr15:25355961 [GRCh38] Chr15:25601108 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.402T>A (p.Leu134=) | single nucleotide variant | Angelman syndrome [RCV003055538] | Chr15:25371772 [GRCh38] Chr15:25616919 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2016C>T (p.Asp672=) | single nucleotide variant | Angelman syndrome [RCV002740371] | Chr15:25356000 [GRCh38] Chr15:25601147 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.4G>T (p.Ala2Ser) | single nucleotide variant | Inborn genetic diseases [RCV002707435] | Chr15:25409104 [GRCh38] Chr15:25654251 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_001394334.1(SNURF):c.130C>T (p.Arg44Cys) | single nucleotide variant | Inborn genetic diseases [RCV002661150] | Chr15:24967951 [GRCh38] Chr15:25213098 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.718T>C (p.Tyr240His) | single nucleotide variant | Angelman syndrome [RCV002824106] | Chr15:25371456 [GRCh38] Chr15:25616603 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1344T>A (p.Asn448Lys) | single nucleotide variant | Angelman syndrome [RCV002821043] | Chr15:25370830 [GRCh38] Chr15:25615977 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.367A>C (p.Thr123Pro) | single nucleotide variant | Angelman syndrome [RCV003019855] | Chr15:25371807 [GRCh38] Chr15:25616954 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1359G>C (p.Glu453Asp) | single nucleotide variant | Angelman syndrome [RCV002975714] | Chr15:25370815 [GRCh38] Chr15:25615962 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1383T>C (p.Tyr461=) | single nucleotide variant | Angelman syndrome [RCV003080337] | Chr15:25370791 [GRCh38] Chr15:25615938 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=) | single nucleotide variant | Angelman syndrome [RCV002926658]|not provided [RCV003395535] | Chr15:25339170 [GRCh38] Chr15:25584317 [GRCh37] Chr15:15q11.2 |
likely benign|uncertain significance |
NM_130839.5(UBE3A):c.2125-11G>A | single nucleotide variant | Angelman syndrome [RCV002760724] | Chr15:25354694 [GRCh38] Chr15:25599841 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2124+14T>C | single nucleotide variant | Angelman syndrome [RCV002592306] | Chr15:25355878 [GRCh38] Chr15:25601025 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1554A>C (p.Pro518=) | single nucleotide variant | Angelman syndrome [RCV002885316] | Chr15:25370620 [GRCh38] Chr15:25615767 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1583A>G (p.His528Arg) | single nucleotide variant | Angelman syndrome [RCV002923448]|not provided [RCV003332392] | Chr15:25370591 [GRCh38] Chr15:25615738 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.63-4A>G | single nucleotide variant | Angelman syndrome [RCV002868009] | Chr15:25375767 [GRCh38] Chr15:25620914 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.62+14G>C | single nucleotide variant | Angelman syndrome [RCV002592312] | Chr15:25405447 [GRCh38] Chr15:25650594 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2280+14dup | duplication | Angelman syndrome [RCV002576230] | Chr15:25354513..25354514 [GRCh38] Chr15:25599660..25599661 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.772G>A (p.Val258Ile) | single nucleotide variant | Angelman syndrome [RCV002745677] | Chr15:25371402 [GRCh38] Chr15:25616549 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2354+7T>A | single nucleotide variant | Angelman syndrome [RCV002890017] | Chr15:25354346 [GRCh38] Chr15:25599493 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1059T>C (p.Phe353=) | single nucleotide variant | Angelman syndrome [RCV002595944] | Chr15:25371115 [GRCh38] Chr15:25616262 [GRCh37] Chr15:15q11.2 |
likely benign |
NC_000015.10:g.25375764del | deletion | Angelman syndrome [RCV002851452] | Chr15:25375763 [GRCh38] Chr15:25620910 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_003097.6(SNRPN):c.316G>A (p.Val106Ile) | single nucleotide variant | Inborn genetic diseases [RCV002874950] | Chr15:24976925 [GRCh38] Chr15:25222072 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1914A>G (p.Leu638=) | single nucleotide variant | Angelman syndrome [RCV002595202] | Chr15:25356736 [GRCh38] Chr15:25601883 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.435T>C (p.Pro145=) | single nucleotide variant | Angelman syndrome [RCV003042800] | Chr15:25371739 [GRCh38] Chr15:25616886 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1527C>T (p.Ser509=) | single nucleotide variant | Angelman syndrome [RCV003057239] | Chr15:25370647 [GRCh38] Chr15:25615794 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.343G>T (p.Ala115Ser) | single nucleotide variant | Angelman syndrome [RCV003041522] | Chr15:25375483 [GRCh38] Chr15:25620630 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2301A>G (p.Leu767=) | single nucleotide variant | Angelman syndrome [RCV002790454] | Chr15:25354406 [GRCh38] Chr15:25599553 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.274G>C (p.Ala92Pro) | single nucleotide variant | Angelman syndrome [RCV003022568] | Chr15:25375552 [GRCh38] Chr15:25620699 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.361+14T>C | single nucleotide variant | Angelman syndrome [RCV003025036] | Chr15:25375451 [GRCh38] Chr15:25620598 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_001394334.1(SNURF):c.143A>G (p.Gln48Arg) | single nucleotide variant | Inborn genetic diseases [RCV002787011] | Chr15:24967964 [GRCh38] Chr15:25213111 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.603A>G (p.Glu201=) | single nucleotide variant | Angelman syndrome [RCV003023870] | Chr15:25371571 [GRCh38] Chr15:25616718 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2555A>G (p.Lys852Arg) | single nucleotide variant | Inborn genetic diseases [RCV002767537]|not provided [RCV003235776] | Chr15:25339201 [GRCh38] Chr15:25584348 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.362-13T>C | single nucleotide variant | Angelman syndrome [RCV002872480] | Chr15:25371825 [GRCh38] Chr15:25616972 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_001394334.1(SNURF):c.209G>A (p.Gly70Asp) | single nucleotide variant | Inborn genetic diseases [RCV002850384] | Chr15:24968030 [GRCh38] Chr15:25213177 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2125-4A>G | single nucleotide variant | Angelman syndrome [RCV002872512] | Chr15:25354687 [GRCh38] Chr15:25599834 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.339A>G (p.Lys113=) | single nucleotide variant | Angelman syndrome [RCV003025168] | Chr15:25375487 [GRCh38] Chr15:25620634 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.494G>A (p.Arg165Gln) | single nucleotide variant | Angelman syndrome [RCV003081854] | Chr15:25371680 [GRCh38] Chr15:25616827 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.656_657insTTGA (p.Asn219_Asn220insTer) | insertion | Angelman syndrome [RCV003005988] | Chr15:25371517..25371518 [GRCh38] Chr15:25616664..25616665 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.488dup (p.Ser163fs) | duplication | Angelman syndrome [RCV002810041] | Chr15:25371685..25371686 [GRCh38] Chr15:25616832..25616833 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2352T>C (p.Ile784=) | single nucleotide variant | Angelman syndrome [RCV002648008] | Chr15:25354355 [GRCh38] Chr15:25599502 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.232A>G (p.Lys78Glu) | single nucleotide variant | Angelman syndrome [RCV002577385] | Chr15:25375594 [GRCh38] Chr15:25620741 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.827G>A (p.Arg276Gln) | single nucleotide variant | Angelman syndrome [RCV002578125] | Chr15:25371347 [GRCh38] Chr15:25616494 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.70G>A (p.Ala24Thr) | single nucleotide variant | Angelman syndrome [RCV003044496] | Chr15:25375756 [GRCh38] Chr15:25620903 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2464A>T (p.Met822Leu) | single nucleotide variant | Angelman syndrome [RCV002579107] | Chr15:25340119 [GRCh38] Chr15:25585266 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2575T>C (p.Leu859=) | single nucleotide variant | Angelman syndrome [RCV003062445] | Chr15:25339181 [GRCh38] Chr15:25584328 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1184A>G (p.Glu395Gly) | single nucleotide variant | Angelman syndrome [RCV003060892] | Chr15:25370990 [GRCh38] Chr15:25616137 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2499-12T>C | single nucleotide variant | Angelman syndrome [RCV002934072] | Chr15:25339269 [GRCh38] Chr15:25584416 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1753+15A>G | single nucleotide variant | Angelman syndrome [RCV002835043] | Chr15:25360368 [GRCh38] Chr15:25605515 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1608+3A>T | single nucleotide variant | Angelman syndrome [RCV002856980] | Chr15:25370563 [GRCh38] Chr15:25615710 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2153T>G (p.Ile718Ser) | single nucleotide variant | Angelman syndrome [RCV003063101] | Chr15:25354655 [GRCh38] Chr15:25599802 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.43G>A (p.Asp15Asn) | single nucleotide variant | Inborn genetic diseases [RCV002965101] | Chr15:25405480 [GRCh38] Chr15:25650627 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2183A>C (p.Lys728Thr) | single nucleotide variant | Angelman syndrome [RCV003010076] | Chr15:25354625 [GRCh38] Chr15:25599772 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1509A>G (p.Arg503=) | single nucleotide variant | Angelman syndrome [RCV002877570] | Chr15:25370665 [GRCh38] Chr15:25615812 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1992G>A (p.Glu664=) | single nucleotide variant | Angelman syndrome [RCV003046190] | Chr15:25356024 [GRCh38] Chr15:25601171 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1997A>C (p.Glu666Ala) | single nucleotide variant | Angelman syndrome [RCV002605545] | Chr15:25356019 [GRCh38] Chr15:25601166 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2391A>T (p.Glu797Asp) | single nucleotide variant | Angelman syndrome [RCV003070331] | Chr15:25340192 [GRCh38] Chr15:25585339 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.721A>G (p.Thr241Ala) | single nucleotide variant | Angelman syndrome [RCV003073214]|not provided [RCV003313304] | Chr15:25371453 [GRCh38] Chr15:25616600 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.159C>T (p.Ser53=) | single nucleotide variant | Angelman syndrome [RCV002607136] | Chr15:25375667 [GRCh38] Chr15:25620814 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1458G>T (p.Lys486Asn) | single nucleotide variant | not provided [RCV003222812] | Chr15:25370716 [GRCh38] Chr15:25615863 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1421T>C (p.Phe474Ser) | single nucleotide variant | not provided [RCV003225426] | Chr15:25370753 [GRCh38] Chr15:25615900 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_003097.6(SNRPN):c.698C>A (p.Pro233Gln) | single nucleotide variant | Inborn genetic diseases [RCV003219268] | Chr15:24978419 [GRCh38] Chr15:25223566 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NC_000015.10:g.25278417C>T | single nucleotide variant | not provided [RCV003222811] | Chr15:25278417 [GRCh38] Chr15:25523564 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2278C>T (p.Arg760Trp) | single nucleotide variant | Angelman syndrome [RCV003139211] | Chr15:25354530 [GRCh38] Chr15:25599677 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.630G>T (p.Arg210Ser) | single nucleotide variant | Angelman syndrome [RCV003139212] | Chr15:25371544 [GRCh38] Chr15:25616691 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2344G>C (p.Val782Leu) | single nucleotide variant | Angelman syndrome [RCV003225813] | Chr15:25354363 [GRCh38] Chr15:25599510 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.242A>G (p.Asp81Gly) | single nucleotide variant | not provided [RCV003225368] | Chr15:25375584 [GRCh38] Chr15:25620731 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2230_2231dup (p.Tyr745fs) | duplication | Angelman syndrome [RCV003224755] | Chr15:25354576..25354577 [GRCh38] Chr15:25599723..25599724 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1850G>A (p.Gly617Asp) | single nucleotide variant | Angelman syndrome [RCV003225269] | Chr15:25356800 [GRCh38] Chr15:25601947 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1321dup (p.Ile441fs) | duplication | Angelman syndrome [RCV003133066] | Chr15:25370852..25370853 [GRCh38] Chr15:25615999..25616000 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1 | copy number loss | Angelman syndrome [RCV003327724] | Chr15:20966971..25963714 [GRCh38] Chr15:15q11.2-12 |
pathogenic |
NM_130839.5(UBE3A):c.2340C>G (p.Asp780Glu) | single nucleotide variant | not provided [RCV003329881] | Chr15:25354367 [GRCh38] Chr15:25599514 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.303dup (p.Asn102fs) | duplication | Angelman syndrome [RCV003340751] | Chr15:25375522..25375523 [GRCh38] Chr15:25620669..25620670 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2308del (p.Thr770fs) | deletion | Angelman syndrome [RCV003334463] | Chr15:25354399 [GRCh38] Chr15:25599546 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2527G>A (p.Val843Met) | single nucleotide variant | Inborn genetic diseases [RCV003374610] | Chr15:25339229 [GRCh38] Chr15:25584376 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NR_001292.2(SNORD108):n.23T>A | single nucleotide variant | not provided [RCV003393659] | Chr15:24986947 [GRCh38] Chr15:25232094 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1614_1624del (p.Glu538fs) | deletion | Angelman syndrome [RCV003333363] | Chr15:25360512..25360522 [GRCh38] Chr15:25605659..25605669 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.237_238del (p.Leu79_Cys80insTer) | microsatellite | Inborn genetic diseases [RCV003364801] | Chr15:25375588..25375589 [GRCh38] Chr15:25620735..25620736 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1791_1801delinsAAGATTCTTTTGAAA (p.Trp597_Ser601delinsTer) | indel | Angelman syndrome [RCV003445292] | Chr15:25356849..25356859 [GRCh38] Chr15:25601996..25602006 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.2204A>G (p.His735Arg) | single nucleotide variant | Angelman syndrome [RCV003873796] | Chr15:25354604 [GRCh38] Chr15:25599751 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_003097.6(SNRPN):c.637A>G (p.Ile213Val) | single nucleotide variant | not provided [RCV003491532] | Chr15:24978270 [GRCh38] Chr15:25223417 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2591C>T (p.Thr864Met) | single nucleotide variant | Angelman syndrome [RCV003873208] | Chr15:25339165 [GRCh38] Chr15:25584312 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_003097.6(SNRPN):c.385G>T (p.Gly129Cys) | single nucleotide variant | not provided [RCV003443852] | Chr15:24976994 [GRCh38] Chr15:25222141 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2532_2535dup (p.Leu846fs) | duplication | UBE3A-related condition [RCV003408426] | Chr15:25339220..25339221 [GRCh38] Chr15:25584367..25584368 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.2447G>A (p.Gly816Glu) | single nucleotide variant | UBE3A-related condition [RCV003404615] | Chr15:25340136 [GRCh38] Chr15:25585283 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.290C>A (p.Ser97Ter) | single nucleotide variant | UBE3A-related condition [RCV003406229] | Chr15:25375536 [GRCh38] Chr15:25620683 [GRCh37] Chr15:15q11.2 |
likely pathogenic |
NM_130839.5(UBE3A):c.140C>T (p.Thr47Met) | single nucleotide variant | not provided [RCV003442696] | Chr15:25375686 [GRCh38] Chr15:25620833 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.601G>A (p.Glu201Lys) | single nucleotide variant | UBE3A-related condition [RCV003408303] | Chr15:25371573 [GRCh38] Chr15:25616720 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1886A>C (p.His629Pro) | single nucleotide variant | UBE3A-related condition [RCV003412465] | Chr15:25356764 [GRCh38] Chr15:25601911 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1219C>T (p.Gln407Ter) | single nucleotide variant | not provided [RCV003441485] | Chr15:25370955 [GRCh38] Chr15:25616102 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1065T>C (p.Ser355=) | single nucleotide variant | not provided [RCV003393660] | Chr15:25371109 [GRCh38] Chr15:25616256 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2515_2518dup (p.Cys840fs) | duplication | UBE3A-related condition [RCV003406233] | Chr15:25339237..25339238 [GRCh38] Chr15:25584384..25584385 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.1673G>A (p.Gly558Glu) | single nucleotide variant | not provided [RCV003442577] | Chr15:25360463 [GRCh38] Chr15:25605610 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_003097.6(SNRPN):c.483T>C (p.Ile161=) | single nucleotide variant | not provided [RCV003390463] | Chr15:24977840 [GRCh38] Chr15:25222987 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.645A>C (p.Ser215=) | single nucleotide variant | not provided [RCV003393661] | Chr15:25371529 [GRCh38] Chr15:25616676 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2547C>T (p.Tyr849=) | single nucleotide variant | Angelman syndrome [RCV003510194] | Chr15:25339209 [GRCh38] Chr15:25584356 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.1154T>G (p.Val385Gly) | single nucleotide variant | Angelman syndrome [RCV003510233] | Chr15:25371020 [GRCh38] Chr15:25616167 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2205T>C (p.His735=) | single nucleotide variant | Angelman syndrome [RCV003876993] | Chr15:25354603 [GRCh38] Chr15:25599750 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.362-11dup | duplication | Angelman syndrome [RCV003510775] | Chr15:25371822..25371823 [GRCh38] Chr15:25616969..25616970 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.159C>G (p.Ser53=) | single nucleotide variant | Angelman syndrome [RCV003509981] | Chr15:25375667 [GRCh38] Chr15:25620814 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.954A>G (p.Gln318=) | single nucleotide variant | Angelman syndrome [RCV003510791] | Chr15:25371220 [GRCh38] Chr15:25616367 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.633A>G (p.Ile211Met) | single nucleotide variant | Angelman syndrome [RCV003510936] | Chr15:25371541 [GRCh38] Chr15:25616688 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.684T>C (p.Asp228=) | single nucleotide variant | Angelman syndrome [RCV003509885] | Chr15:25371490 [GRCh38] Chr15:25616637 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2168T>G (p.Val723Gly) | single nucleotide variant | Angelman syndrome [RCV003510928] | Chr15:25354640 [GRCh38] Chr15:25599787 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.362-10G>A | single nucleotide variant | Angelman syndrome [RCV003511007] | Chr15:25371822 [GRCh38] Chr15:25616969 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2470A>G (p.Ile824Val) | single nucleotide variant | Angelman syndrome [RCV003510462] | Chr15:25340113 [GRCh38] Chr15:25585260 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1439T>C (p.Ile480Thr) | single nucleotide variant | Angelman syndrome [RCV003510478] | Chr15:25370735 [GRCh38] Chr15:25615882 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.2388T>C (p.Asp796=) | single nucleotide variant | Angelman syndrome [RCV003509147] | Chr15:25340195 [GRCh38] Chr15:25585342 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2521T>G (p.Phe841Val) | single nucleotide variant | Angelman syndrome [RCV003510119] | Chr15:25339235 [GRCh38] Chr15:25584382 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.963G>A (p.Leu321=) | single nucleotide variant | Angelman syndrome [RCV003510209] | Chr15:25371211 [GRCh38] Chr15:25616358 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.2124+3A>G | single nucleotide variant | Angelman syndrome [RCV003510828] | Chr15:25355889 [GRCh38] Chr15:25601036 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.704C>T (p.Ala235Val) | single nucleotide variant | Angelman syndrome [RCV003510122] | Chr15:25371470 [GRCh38] Chr15:25616617 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1301T>G (p.Leu434Arg) | single nucleotide variant | Angelman syndrome [RCV003509411] | Chr15:25370873 [GRCh38] Chr15:25616020 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.610T>C (p.Ser204Pro) | single nucleotide variant | Angelman syndrome [RCV003879326] | Chr15:25371564 [GRCh38] Chr15:25616711 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1401A>G (p.Glu467=) | single nucleotide variant | Angelman syndrome [RCV003824590] | Chr15:25370773 [GRCh38] Chr15:25615920 [GRCh37] Chr15:15q11.2 |
likely benign |
NM_130839.5(UBE3A):c.625T>C (p.Ser209Pro) | single nucleotide variant | Angelman syndrome [RCV003509350] | Chr15:25371549 [GRCh38] Chr15:25616696 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1122G>A (p.Met374Ile) | single nucleotide variant | Angelman syndrome [RCV003509359] | Chr15:25371052 [GRCh38] Chr15:25616199 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.1001G>A (p.Arg334Gln) | single nucleotide variant | Angelman syndrome [RCV003509951] | Chr15:25371173 [GRCh38] Chr15:25616320 [GRCh37] Chr15:15q11.2 |
uncertain significance |
NM_130839.5(UBE3A):c.613_614del (p.Glu205fs) | deletion | Angelman syndrome [RCV003510753] | Chr15:25371560..25371561 [GRCh38] Chr15:25616707..25616708 [GRCh37] Chr15:15q11.2 |
pathogenic |
NM_130839.5(UBE3A):c.580G>T (p.Ala194Ser) | single nucleotide variant | Angelman syndrome [RCV003511177] | Chr15:25371594 [GRCh38] Chr15:25616741 [GRCh37] Chr15:15q11.2 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 69 | 610 | 966 | 14 | 94 | 15 | 578 | 357 | 1193 | 35 | 247 | 732 | 1 | 382 | ||||
Low | 2234 | 1669 | 717 | 567 | 1145 | 406 | 3755 | 1797 | 2534 | 369 | 1157 | 822 | 167 | 1 | 1204 | 2397 | 2 | 1 |
Below cutoff | 46 | 710 | 36 | 36 | 694 | 37 | 14 | 35 | 1 | 8 | 25 | 23 | 9 | 1 |
RefSeq Acc Id: | ENST00000414175 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000424208 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000424333 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000441592 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000447911 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000452731 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000453082 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000546682 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000547292 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000549804 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000551077 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000551361 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000551631 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000551938 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000552781 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000553108 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000553134 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000553149 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000554726 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000557108 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000580438 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000604135 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000626200 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000640631 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000652996 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000653389 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000653407 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000653489 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000654023 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000654058 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000654223 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000654902 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000654984 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655143 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655153 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655258 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655461 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655695 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655746 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655954 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655965 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000655993 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000656009 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000656420 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000656450 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000656463 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000656474 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000656510 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000656600 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000656959 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000657002 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000657011 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000657095 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000657237 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000657285 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000657798 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000657850 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000658480 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000658502 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000658623 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000658769 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000658853 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000658859 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000659029 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000659236 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000660376 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000660430 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000660542 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000660717 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000660956 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661110 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661253 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661305 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661389 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661541 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661608 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661738 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661889 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000661926 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000662370 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000662451 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000662834 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663026 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663359 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663446 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663600 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663612 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663945 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000663996 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000664256 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000664545 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000664763 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665253 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665311 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665397 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665411 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665547 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665799 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665819 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665906 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665930 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000665961 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000666022 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000666289 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000666606 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000666663 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000666955 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000667390 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000667393 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000667478 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000667531 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000667788 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000667925 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000668163 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000668419 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000668444 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000668570 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000668750 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000668953 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669064 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669072 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669377 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669673 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669778 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669814 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669867 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669911 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669928 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000669989 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000670011 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000670384 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000670394 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000670542 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000670587 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000670678 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000670697 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000671079 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000671121 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000671136 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000671374 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000671491 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000671517 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NR_146177 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
Database | Acc Id | Source(s) |
COSMIC | SNHG14 | COSMIC |
Ensembl Genes | ENSG00000224078 | Ensembl |
GTEx | ENSG00000224078 | GTEx |
HGNC ID | HGNC:37462 | ENTREZGENE |
Human Proteome Map | SNHG14 | Human Proteome Map |
NCBI Gene | SNHG14 | ENTREZGENE |
OMIM | 616259 | OMIM |
RNAcentral | URS0000ABD7E9 | RNACentral |