SNHG14 (small nucleolar RNA host gene 14) - Rat Genome Database

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Gene: SNHG14 (small nucleolar RNA host gene 14) Homo sapiens
Analyze
Symbol: SNHG14
Name: small nucleolar RNA host gene 14
RGD ID: 12798467
HGNC Page HGNC:37462
Description: This gene is located within the Prader-Willi critical region and produces a long, spliced paternally-imprinted RNA that initiates within a common upstream promoter region shared by the SNRPN (small nuclear ribonucleoprotein polypeptide N) and SNURF genes. This transcript serves as a host RNA for the small nucleolar RNA, C/D box 115 and 116 clusters. This RNA extends in antisense into the region of the ubiquitin protein ligase E3A gene (UBE3A), and is thought to regulate imprinted expression of UBE3A in the brain. This transcript undergoes extensive alternative splicing, and may initiate and terminate at multiple locations within this genomic region. The full-length structure of all splice forms is not determined. [provided by RefSeq, Mar 2017]
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: REVIEWED
Previously known as: 115HG; IC-SNURF-SNRPN; LNCAT; NCRNA00214; U-UBE3A-ATS; UBE3A-AS; UBE3A-AS1; UBE3A-ATS; UBE3AATS
RGD Orthologs
Mouse
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381524,823,608 - 25,419,462 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1524,978,583 - 25,420,336 (+)EnsemblGRCh38hg38GRCh38
GRCh371525,068,755 - 25,664,609 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15q11.2NCBI
T2T-CHM13v2.01522,560,260 - 23,156,060 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:9070929   PMID:9590281   PMID:11007541   PMID:11106375   PMID:11157801   PMID:11159938   PMID:11726556   PMID:12154412   PMID:12477932   PMID:15014980   PMID:15146197   PMID:15226413  
PMID:15757975   PMID:16344560   PMID:16368707   PMID:20016068   PMID:22959273   PMID:23771028   PMID:24385930   PMID:25246219   PMID:27146458   PMID:27484051   PMID:28215748   PMID:30063126  
PMID:30254102   PMID:30611620   PMID:30737032   PMID:30779068   PMID:31081075   PMID:31114991   PMID:31121484   PMID:31252267   PMID:31273190   PMID:31397210   PMID:31471872   PMID:31513352  
PMID:31692034   PMID:31704614   PMID:31799655   PMID:31841176   PMID:31929143   PMID:31948764   PMID:32153123   PMID:32432733   PMID:32527996   PMID:32607966   PMID:32770994   PMID:32811821  
PMID:33059643   PMID:33155197   PMID:33161910   PMID:33300066   PMID:33485374   PMID:33490282   PMID:33539913   PMID:33652176   PMID:33682607   PMID:33782806   PMID:33856026   PMID:34338033  
PMID:34380584   PMID:34529319   PMID:34539244   PMID:34783894   PMID:34967554   PMID:35501644   PMID:35678981   PMID:35781593   PMID:36599973   PMID:36672838   PMID:37300688   PMID:37653187  
PMID:37849308  


Genomics

Comparative Map Data
SNHG14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381524,823,608 - 25,419,462 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1524,978,583 - 25,420,336 (+)EnsemblGRCh38hg38GRCh38
GRCh371525,068,755 - 25,664,609 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15q11.2NCBI
T2T-CHM13v2.01522,560,260 - 23,156,060 (+)NCBIT2T-CHM13v2.0
Snhg14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39758,922,485 - 60,099,925 (-)NCBIGRCm39GRCm39mm39
GRCm38759,272,737 - 60,450,177 (-)NCBIGRCm38GRCm38mm10GRCm38
MGSCv37767,114,463 - 67,119,317 (-)NCBIGRCm37MGSCv37mm9NCBIm37
Cytogenetic Map7B5NCBI
cM Map734.04NCBI

Variants

.
Variants in SNHG14
641 total Variants

Clinical 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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3977
Count of miRNA genes:1182
Interacting mature miRNAs:1530
Transcripts:ENST00000383025, ENST00000414175, ENST00000424208, ENST00000424333, ENST00000441592, ENST00000447911, ENST00000450809, ENST00000452731, ENST00000453082, ENST00000456576, ENST00000546682, ENST00000547292, ENST00000549804, ENST00000551077, ENST00000551361, ENST00000551631, ENST00000551938, ENST00000552781, ENST00000553108, ENST00000553134, ENST00000553149, ENST00000554726, ENST00000580438
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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

Sequence

Nucleotide Sequences
RefSeq Transcripts NR_146177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC100774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF319522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF319523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF319524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY362862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY362863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY362864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY362865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY362866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY421730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN389953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA296172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN990150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA986470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U81001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000414175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,189,303 - 25,193,489 (+)Ensembl
RefSeq Acc Id: ENST00000424208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,181,843 - 25,222,285 (+)Ensembl
RefSeq Acc Id: ENST00000424333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,197,428 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000441592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,172,979 - 25,182,051 (+)Ensembl
RefSeq Acc Id: ENST00000447911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,180,314 - 25,182,708 (+)Ensembl
RefSeq Acc Id: ENST00000452731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,252,225 - 25,338,196 (+)Ensembl
RefSeq Acc Id: ENST00000453082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,218,352 - 25,375,476 (+)Ensembl
RefSeq Acc Id: ENST00000546682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,081,154 - 25,113,927 (+)Ensembl
RefSeq Acc Id: ENST00000547292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,051,089 - 25,056,565 (+)Ensembl
RefSeq Acc Id: ENST00000549804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,050,632 - 25,138,756 (+)Ensembl
RefSeq Acc Id: ENST00000551077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,065,026 - 25,070,483 (+)Ensembl
RefSeq Acc Id: ENST00000551361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,981,994 - 25,002,830 (+)Ensembl
RefSeq Acc Id: ENST00000551631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,979,557 - 25,036,490 (+)Ensembl
RefSeq Acc Id: ENST00000551938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,000,314 - 25,002,404 (+)Ensembl
RefSeq Acc Id: ENST00000552781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,019,035 - 25,053,916 (+)Ensembl
RefSeq Acc Id: ENST00000553108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,078,954 - 25,111,998 (+)Ensembl
RefSeq Acc Id: ENST00000553134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,000,305 - 25,020,825 (+)Ensembl
RefSeq Acc Id: ENST00000553149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,117,472 - 25,172,996 (+)Ensembl
RefSeq Acc Id: ENST00000554726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,267,013 - 25,419,467 (+)Ensembl
RefSeq Acc Id: ENST00000557108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,978,583 - 24,991,753 (+)Ensembl
RefSeq Acc Id: ENST00000580438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,417,934 - 25,419,445 (+)Ensembl
RefSeq Acc Id: ENST00000604135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,041,918 - 25,042,428 (+)Ensembl
RefSeq Acc Id: ENST00000626200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,109,682 - 25,120,426 (+)Ensembl
RefSeq Acc Id: ENST00000640631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,041,689 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000652996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,213,508 - 25,279,986 (+)Ensembl
RefSeq Acc Id: ENST00000653389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,232,232 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000653407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,065,092 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000653489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,197,909 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000654023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,227,011 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000654058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,096,335 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000654223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,050,526 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000654902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,076,910 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000654984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,259,858 - 25,419,439 (+)Ensembl
RefSeq Acc Id: ENST00000655143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,051,477 - 25,070,528 (+)Ensembl
RefSeq Acc Id: ENST00000655153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,064,833 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000655258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,081,177 - 25,120,408 (+)Ensembl
RefSeq Acc Id: ENST00000655461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,103,273 - 25,109,811 (+)Ensembl
RefSeq Acc Id: ENST00000655695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,101,575 - 25,119,890 (+)Ensembl
RefSeq Acc Id: ENST00000655746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,082,663 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000655954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,184,928 - 25,186,002 (+)Ensembl
RefSeq Acc Id: ENST00000655965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,041,974 - 25,056,953 (+)Ensembl
RefSeq Acc Id: ENST00000655993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,086,527 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000656009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,234,476 - 25,419,435 (+)Ensembl
RefSeq Acc Id: ENST00000656420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,193,313 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000656450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,232,644 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000656463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,015,221 - 25,023,250 (+)Ensembl
RefSeq Acc Id: ENST00000656474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,265,675 - 25,419,439 (+)Ensembl
RefSeq Acc Id: ENST00000656510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,042,339 - 25,120,129 (+)Ensembl
RefSeq Acc Id: ENST00000656600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,076,910 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000656959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,041,974 - 25,056,955 (+)Ensembl
RefSeq Acc Id: ENST00000657002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,106,521 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000657011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,269,797 - 25,419,467 (+)Ensembl
RefSeq Acc Id: ENST00000657095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,101,575 - 25,112,020 (+)Ensembl
RefSeq Acc Id: ENST00000657237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,065,026 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000657285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,082,606 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000657798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,051,474 - 25,056,955 (+)Ensembl
RefSeq Acc Id: ENST00000657850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,091,607 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000658480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,091,659 - 25,096,980 (+)Ensembl
RefSeq Acc Id: ENST00000658502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,265,749 - 25,419,435 (+)Ensembl
RefSeq Acc Id: ENST00000658623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,378,998 - 25,419,391 (+)Ensembl
RefSeq Acc Id: ENST00000658769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,065,026 - 25,067,884 (+)Ensembl
RefSeq Acc Id: ENST00000658853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,376,243 - 25,419,459 (+)Ensembl
RefSeq Acc Id: ENST00000658859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,082,768 - 25,119,875 (+)Ensembl
RefSeq Acc Id: ENST00000659029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,002,581 - 25,023,250 (+)Ensembl
RefSeq Acc Id: ENST00000659236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,107,908 - 25,111,261 (+)Ensembl
RefSeq Acc Id: ENST00000660376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,236,087 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000660430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,233,523 - 25,419,259 (+)Ensembl
RefSeq Acc Id: ENST00000660542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,075,771 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000660717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,054,206 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000660956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,079,058 - 25,122,561 (+)Ensembl
RefSeq Acc Id: ENST00000661110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,261,256 - 25,279,995 (+)Ensembl
RefSeq Acc Id: ENST00000661253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,054,206 - 25,119,876 (+)Ensembl
RefSeq Acc Id: ENST00000661305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,213,508 - 25,279,985 (+)Ensembl
RefSeq Acc Id: ENST00000661389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,095,547 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000661541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,082,672 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000661608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,095,547 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000661738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,078,871 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000661889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,085,385 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000661926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,089,132 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000662370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,076,910 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000662451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,089,546 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000662834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,041,974 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000663026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,086,527 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000663359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,230,751 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000663446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,206,080 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000663600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,266,428 - 25,419,467 (+)Ensembl
RefSeq Acc Id: ENST00000663612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,094,037 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000663945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,097,663 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000663996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,107,470 - 25,119,890 (+)Ensembl
RefSeq Acc Id: ENST00000664256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,064,771 - 25,111,976 (+)Ensembl
RefSeq Acc Id: ENST00000664545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,041,974 - 25,111,941 (+)Ensembl
RefSeq Acc Id: ENST00000664763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,233,347 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000665253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,099,588 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000665311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,213,508 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000665397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,208,083 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000665411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,262,518 - 25,419,577 (+)Ensembl
RefSeq Acc Id: ENST00000665547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,089,546 - 25,119,890 (+)Ensembl
RefSeq Acc Id: ENST00000665799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,096,332 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000665819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,073,107 - 25,111,424 (+)Ensembl
RefSeq Acc Id: ENST00000665906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,081,096 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000665930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,089,064 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000665961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,103,278 - 25,119,875 (+)Ensembl
RefSeq Acc Id: ENST00000666022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,085,387 - 25,119,887 (+)Ensembl
RefSeq Acc Id: ENST00000666289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,065,026 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000666606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,073,107 - 25,102,073 (+)Ensembl
RefSeq Acc Id: ENST00000666663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,236,085 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000666955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,091,587 - 25,099,221 (+)Ensembl
RefSeq Acc Id: ENST00000667390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,093,766 - 25,094,715 (+)Ensembl
RefSeq Acc Id: ENST00000667393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,041,974 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000667478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,096,339 - 25,114,025 (+)Ensembl
RefSeq Acc Id: ENST00000667531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,076,910 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000667788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,081,287 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000667925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,065,034 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000668163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,089,074 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000668419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,082,768 - 25,119,890 (+)Ensembl
RefSeq Acc Id: ENST00000668444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,096,338 - 25,113,773 (+)Ensembl
RefSeq Acc Id: ENST00000668570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,213,508 - 25,419,358 (+)Ensembl
RefSeq Acc Id: ENST00000668750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,041,974 - 25,119,875 (+)Ensembl
RefSeq Acc Id: ENST00000668953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,073,107 - 25,119,875 (+)Ensembl
RefSeq Acc Id: ENST00000669064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,232,711 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000669072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,093,766 - 25,120,408 (+)Ensembl
RefSeq Acc Id: ENST00000669377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,099,499 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000669673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,041,974 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000669778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,089,546 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000669814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,096,331 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000669867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,213,508 - 25,419,302 (+)Ensembl
RefSeq Acc Id: ENST00000669911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,213,508 - 25,419,041 (+)Ensembl
RefSeq Acc Id: ENST00000669928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,236,088 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000669989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,208,108 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000670011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,100,179 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000670384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,206,263 - 25,420,336 (+)Ensembl
RefSeq Acc Id: ENST00000670394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,065,026 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000670542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,059,668 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000670587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,089,928 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000670678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,106,521 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000670697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,106,291 - 25,108,318 (+)Ensembl
RefSeq Acc Id: ENST00000671079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,265,904 - 25,338,244 (+)Ensembl
RefSeq Acc Id: ENST00000671121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,099,499 - 25,122,467 (+)Ensembl
RefSeq Acc Id: ENST00000671136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,089,852 - 25,106,181 (+)Ensembl
RefSeq Acc Id: ENST00000671374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,070,147 - 25,122,561 (+)Ensembl
RefSeq Acc Id: ENST00000671491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,077,536 - 25,080,234 (+)Ensembl
RefSeq Acc Id: ENST00000671517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,101,575 - 25,119,875 (+)Ensembl
RefSeq Acc Id: NR_146177
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381524,823,608 - 25,419,462 (+)NCBI
T2T-CHM13v2.01522,560,260 - 23,156,060 (+)NCBI
Sequence:

Additional Information

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