| - GRCh38:
- Chr15:20966971-25963714
| ATP10A, ATP10A-DT, CYFIP1, FAM30C, GOLGA6L1, GOLGA6L2, GOLGA6L22, GOLGA6L26, GOLGA8S, IPW, LINC01193, LINC02203, LINC02250, LINC02346, LOC102724971, LOC112272575, LOC112272576, LOC112272578, LOC112272579, LOC121847940, LOC125078046, LOC125078047, LOC126088093, LOC126862074, LOC126862075, LOC126862076, LOC283683, MAGEL2, MIR1268A, MIR3118-3, MIR3118-4, MIR4508, MIR4509-1, MIR4715, MIR5701-2, MIR5701-3, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OR4M2, OR4M2-OT1, OR4M2B, OR4N4, OR4N4C, POTEB, POTEB3, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD64, SNRPN, SNURF, TUBGCP5, UBE3A | | Angelman syndrome | Pathogenic
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh38:
- Chr15:25354042-25357067
| SNHG14, UBE3A | | Angelman syndrome | Pathogenic
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601947
- GRCh38:
- Chr15:25356800
| SNHG14, UBE3A | G180D, G200D, G558D, G597D, G617D, G620D | Angelman syndrome | Uncertain significance
(May 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599723-25599724
- GRCh38:
- Chr15:25354576-25354577
| SNHG14, UBE3A | Y308fs, Y328fs, Y670fs, Y686fs, Y725fs, Y745fs, Y748fs | Angelman syndrome | Pathogenic
(Feb 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616542
- GRCh38:
- Chr15:25371395
| SNHG14, UBE3A | L201*, L240*, L260*, L263* | Angelman syndrome | Pathogenic
(Apr 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601977
- GRCh38:
- Chr15:25356830
| UBE3A, SNHG14 | G170fs, G190fs, G548fs, G587fs, G607fs, G610fs | Angelman syndrome | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616691
- GRCh38:
- Chr15:25371544
| UBE3A, SNHG14 | R151S, R190S, R210S, R213S | Angelman syndrome | Uncertain significance
(Oct 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599677
- GRCh38:
- Chr15:25354530
| UBE3A, SNHG14 | R323W, R343W, R685W, R701W, R740W, R760W, R763W | Angelman syndrome | Uncertain significance
(Apr 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615999-25616000
- GRCh38:
- Chr15:25370852-25370853
| UBE3A, SNHG14 | I382fs, I421fs, I441fs, I444fs | Angelman syndrome | Likely pathogenic
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599510
- GRCh38:
- Chr15:25354363
| SNHG14, UBE3A | V345L, V365L, V707L, V710L, V723L, V730L, V762L, V782L, V785L | Angelman syndrome | Uncertain significance
(Jan 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25584284-25585395
| UBE3A | | Angelman syndrome | Pathogenic
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615693-25650609
| UBE3A | | Angelman syndrome | Pathogenic
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616832-25616833
- GRCh38:
- Chr15:25371685-25371686
| SNHG14, UBE3A | S143fs, S163fs, S166fs, S104fs | Angelman syndrome | Likely pathogenic
(Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599502
- GRCh38:
- Chr15:25354355
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Oct 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25620814
- GRCh38:
- Chr15:25375667
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25650594
- GRCh38:
- Chr15:25405447
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601025
- GRCh38:
- Chr15:25355878
| UBE3A, SNHG14 | | Angelman syndrome | Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616262
- GRCh38:
- Chr15:25371115
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601883
- GRCh38:
- Chr15:25356736
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25585266
- GRCh38:
- Chr15:25340119
| UBE3A, SNHG14 | M750L, M770L, M825L, M405L, M763L, M822L, M802L, M385L, M747L | Angelman syndrome | Uncertain significance
(Nov 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:25615824
- GRCh38:
- Chr15:25370677
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615938
- GRCh38:
- Chr15:25370791
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616600
- GRCh38:
- Chr15:25371453
| SNHG14, UBE3A | T182A, T241A, T244A, T221A | Angelman syndrome, not provided | Uncertain significance
(Jan 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:25585339
- GRCh38:
- Chr15:25340192
| UBE3A, SNHG14 | E722D, E725D, E738D, E745D, E380D, E797D, E777D, E800D, E360D | Angelman syndrome | Uncertain significance
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616827
- GRCh38:
- Chr15:25371680
| UBE3A, SNHG14 | R106Q, R145Q, R165Q, R168Q | Angelman syndrome | Uncertain significance
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616137
- GRCh38:
- Chr15:25370990
| SNHG14, UBE3A | E398G, E336G, E375G, E395G | Angelman syndrome | Uncertain significance
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599802
- GRCh38:
- Chr15:25354655
| UBE3A, SNHG14 | I718S, I301S, I643S, I659S, I698S, I721S, I281S | Angelman syndrome | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25584328
- GRCh38:
- Chr15:25339181
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25620903
- GRCh38:
- Chr15:25375756
| UBE3A, SNHG14 | A24T, A4T, A27T | Angelman syndrome | Uncertain significance
(May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616919
- GRCh38:
- Chr15:25371772
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615794
- GRCh38:
- Chr15:25370647
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25620634
- GRCh38:
- Chr15:25375487
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25620598
- GRCh38:
- Chr15:25375451
| UBE3A, SNHG14 | | Angelman syndrome | Likely benign
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616886
- GRCh38:
- Chr15:25371739
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601171
- GRCh38:
- Chr15:25356024
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25620699
- GRCh38:
- Chr15:25375552
| SNHG14, UBE3A | A33P, A72P, A95P, A92P | Angelman syndrome | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616718
- GRCh38:
- Chr15:25371571
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616143-25616145
- GRCh38:
- Chr15:25370996-25370998
| UBE3A, SNHG14 | E372del, E392del, E395del, E333del | Angelman syndrome | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25620630
- GRCh38:
- Chr15:25375483
| SNHG14, UBE3A | A118S, A56S, A95S, A115S | Angelman syndrome | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616954
- GRCh38:
- Chr15:25371807
| SNHG14, UBE3A | T103P, T64P, T123P, T126P | Angelman syndrome | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601108
- GRCh38:
- Chr15:25355961
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616066
- GRCh38:
- Chr15:25370919
| UBE3A, SNHG14 | G419S, G360S, G422S, G399S | Angelman syndrome | Uncertain significance
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599772
- GRCh38:
- Chr15:25354625
| SNHG14, UBE3A | K311T, K291T, K708T, K669T, K731T, K653T, K728T | Angelman syndrome | Uncertain significance
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616664-25616665
- GRCh38:
- Chr15:25371517-25371518
| SNHG14, UBE3A | | Angelman syndrome | Pathogenic
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615962
- GRCh38:
- Chr15:25370815
| SNHG14, UBE3A | E433D, E456D, E453D, E394D | Angelman syndrome | Uncertain significance
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25584416
- GRCh38:
- Chr15:25339269
| UBE3A, SNHG14 | | Angelman syndrome | Likely benign
(Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615738
- GRCh38:
- Chr15:25370591
| UBE3A, SNHG14 | H528R, H531R, H469R, H508R | Angelman syndrome | Uncertain significance
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25584317
- GRCh38:
- Chr15:25339170
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615812
- GRCh38:
- Chr15:25370665
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599493
- GRCh38:
- Chr15:25354346
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25620914
- GRCh38:
- Chr15:25375767
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615767
- GRCh38:
- Chr15:25370620
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599834
- GRCh38:
- Chr15:25354687
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616972
- GRCh38:
- Chr15:25371825
| UBE3A, SNHG14 | | Angelman syndrome | Likely benign
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599511
- GRCh38:
- Chr15:25354364
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615710
- GRCh38:
- Chr15:25370563
| SNHG14, UBE3A | | Angelman syndrome | Uncertain significance
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25605515
- GRCh38:
- Chr15:25360368
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25620910
- GRCh38:
- Chr15:25375763
| SNHG14, UBE3A | | Angelman syndrome | Uncertain significance
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601824
- GRCh38:
- Chr15:25356677
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615977
- GRCh38:
- Chr15:25370830
| UBE3A, SNHG14 | N389K, N428K, N448K, N451K | Angelman syndrome | Uncertain significance
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616603
- GRCh38:
- Chr15:25371456
| UBE3A, SNHG14 | Y181H, Y243H, Y240H, Y220H | Angelman syndrome | Uncertain significance
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599553
- GRCh38:
- Chr15:25354406
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25620672
- GRCh38:
- Chr15:25375525
| SNHG14, UBE3A | P42S, P104S, P81S, P101S | Angelman syndrome | Uncertain significance
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599841
- GRCh38:
- Chr15:25354694
| UBE3A, SNHG14 | | Angelman syndrome | Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599559
- GRCh38:
- Chr15:25354412
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616549
- GRCh38:
- Chr15:25371402
| SNHG14, UBE3A | V261I, V238I, V199I, V258I | Angelman syndrome | Uncertain significance
(Jun 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601147
- GRCh38:
- Chr15:25356000
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616454
- GRCh38:
- Chr15:25371307
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601166
- GRCh38:
- Chr15:25356019
| UBE3A, SNHG14 | E607A, E666A, E229A, E249A, E669A, E646A | Angelman syndrome | Uncertain significance
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616494
- GRCh38:
- Chr15:25371347
| UBE3A, SNHG14 | R217Q, R256Q, R279Q, R276Q | Angelman syndrome | Uncertain significance
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25620741
- GRCh38:
- Chr15:25375594
| SNHG14, UBE3A | K81E, K78E, K58E, K19E | Angelman syndrome | Uncertain significance
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599660-25599661
- GRCh38:
- Chr15:25354513-25354514
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616463-25616464
- GRCh38:
- Chr15:25371316-25371317
| SNHG14, UBE3A | | Angelman syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr15:25585268-25585269
- GRCh38:
- Chr15:25340121-25340122
| SNHG14, UBE3A | K384fs, K404fs, K746fs, K749fs, K762fs, K769fs, K801fs, K821fs, K824fs | Angelman syndrome | Pathogenic
(Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601180
- GRCh38:
- Chr15:25356033
| SNHG14, UBE3A | | Angelman syndrome, Inborn genetic diseases | Likely benign
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:25616122
- GRCh38:
- Chr15:25370975
| SNHG14, UBE3A | E341V, E380V, E400V, E403V | Angelman syndrome | Uncertain significance
(Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615886
- GRCh38:
- Chr15:25370739
| SNHG14, UBE3A | F420I, F459I, F479I, F482I | Angelman syndrome | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25584393
- GRCh38:
- Chr15:25339246
| SNHG14, UBE3A | S400F, S420F, S762F, S765F, S778F, S785F, S817F, S837F, S840F | Angelman syndrome | Uncertain significance
(Jan 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25605579
- GRCh38:
- Chr15:25360432
| SNHG14, UBE3A | E133fs, E153fs, E511fs, E550fs, E570fs, E573fs | Angelman syndrome | Likely pathogenic
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601959
- GRCh38:
- Chr15:25356812
| SNHG14, UBE3A | G176V, G196V, G554V, G593V, G613V, G616V | Angelman syndrome | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:23689315-28644578
| ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A | | Angelman syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:22770421-29855014
| APBA2, ATP10A, CYFIP1, ENTREP2, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A | | Angelman syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:23285775-30386399
| ENTREP2, APBA2, ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8J, GOLGA8M, HERC2, IPW, MAGEL2, OCA2, MKRN3, NDN, NPAP1, NSMCE3, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, UBE3A | | Angelman syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:23290862-28522838
| ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A | | Angelman syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:23615768-28522838
| ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A | | Angelman syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:25584392-25584393
- GRCh38:
- Chr15:25339245-25339246
| SNHG14, UBE3A | | Angelman syndrome | Likely pathogenic
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616032
- GRCh38:
- Chr15:25370885
| UBE3A, SNHG14 | G371V, G410V, G430V, G433V | not provided, Angelman syndrome | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:25616899
- GRCh38:
- Chr15:25371752
| SNHG14, UBE3A | E121V, E141V, E144V, E82V | Angelman syndrome | Uncertain significance
(Jul 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25585231
- GRCh38:
- Chr15:25340084
| SNHG14, UBE3A | | Angelman syndrome | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615727
- GRCh38:
- Chr15:25370580
| SNHG14, UBE3A | D473Y, D512Y, D532Y, D535Y | Angelman syndrome | Likely pathogenic
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25601913
- GRCh38:
- Chr15:25356766
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Jun 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599484
- GRCh38:
- Chr15:25354337
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Dec 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599487
- GRCh38:
- Chr15:25354340
| UBE3A, SNHG14 | | Angelman syndrome | Likely benign
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25584395
- GRCh38:
- Chr15:25339248
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25584414
- GRCh38:
- Chr15:25339267
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616553
- GRCh38:
- Chr15:25371406
| UBE3A, SNHG14 | | Angelman syndrome | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616187
- GRCh38:
- Chr15:25371040
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25599792
- GRCh38:
- Chr15:25354645
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25615755
- GRCh38:
- Chr15:25370608
| SNHG14, UBE3A | | Angelman syndrome | Likely benign
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25616307
- GRCh38:
- Chr15:25371160
| UBE3A, SNHG14 | | Angelman syndrome | Likely benign
(May 7, 2022) | criteria provided, single submitter |